Carmil2 MGI Mouse Gene Detail - MGI:2685431 - capping protein regulator and myosin 1 linker 2

Symbol

Carmil2
Name

capping protein regulator and myosin 1 linker 2
Synonyms

D130029J02Rik, Rltpr

Feature Type

protein coding gene
IDs

MGI:2685431
NCBI Gene: 234695
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr8:106412906-106424819 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 53.04 cM
Mapping Data

1 experiment

SNPs within 2kb

289 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2685431	protein coding gene	Chr8:106412642-106424827 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0034053	protein coding gene	Chr8:107989053-108000982 (+)
A/J	MGP_AJ_G0034034	protein coding gene	Chr8:103672487-103684537 (+)
AKR/J	MGP_AKRJ_G0033960	protein coding gene	Chr8:106673454-106685379 (+)
BALB/cJ	MGP_BALBcJ_G0034027	protein coding gene	Chr8:103863010-103874939 (+)
C3H/HeJ	MGP_C3HHeJ_G0033739	protein coding gene	Chr8:107414272-107426205 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034547	protein coding gene	Chr8:111956980-111968909 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031489	protein coding gene	Chr8:96806947-96822580 (+)
CAST/EiJ	MGP_CASTEiJ_G0033065	protein coding gene	Chr8:106913926-106926009 (+)
CBA/J	MGP_CBAJ_G0033712	protein coding gene	Chr8:115550435-115562360 (+)
DBA/2J	MGP_DBA2J_G0033867	protein coding gene	Chr8:103019894-103031823 (+)
FVB/NJ	MGP_FVBNJ_G0033813	protein coding gene	Chr8:101946232-101960640 (+)
LP/J	MGP_LPJ_G0033958	protein coding gene	Chr8:108196279-108208208 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033856	protein coding gene	Chr8:118746946-118758879 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034565	protein coding gene	Chr8:106637400-106649329 (+)
PWK/PhJ	MGP_PWKPhJ_G0032766	protein coding gene	Chr8:102410292-102422439 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032607	protein coding gene	Chr8:105317590-105334471 (+)
WSB/EiJ	MGP_WSBEiJ_G0033181	protein coding gene	Chr8:107304511-107318967 (+)

Human Ortholog

CARMIL2, capping protein regulator and myosin 1 linker 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CARMIL2, capping protein regulator and myosin 1 linker 2
Synonyms

CARMIL2b, IMD58, LRRC16C, RLTPR
Links

HGNC:27089

NCBI Gene ID: 146206

neXtProt AC: NX_Q6F5E8

UniProt: Q6F5E8
Chr Location

16q22.1; chr16:67644988-67657569 (+) GRCh38

MGI Vertebrate Homology

Carmil2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CARMIL2
Gene Tree

Carmil2

Diseases

1 with human CARMIL2 associations

				Human Disease	Mouse Models
				immunodeficiency 58 IDs immunodeficiency 58 DOID:0111984 OMIM:618131 ORDO:542301 UMLS_CUI:C4748304

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

9 phenotypes from 3 alleles in 3 genetic backgrounds
1 phenotype from multigenic genotypes
5 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

4
Chemically induced (ENU)

1
Targeted

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

39 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out or ENU-induced allele exhibit decreased regulatory T cells and reduced proliferative and IL2-secretion response to anti-CD3 and anti-CD28 antibodies.

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All GO Annotations

56
GO References

5

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

706
cDNA Data

3

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN carmil2

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All Sequences

50
RefSeq

17
UniProt

3
CCDS

CCDS22607.1, CCDS90452.1

Ensembl

ENSMUSG00000050357 (Evidence)
NCBI Gene

234695

			Length	Strain/Species	Flank
genomic	ENSMUSG00000050357	Ensembl Gene Model \| MGI Sequence Detail	11914	C57BL/6J	± kb
transcript	ENSMUST00000213019	Ensembl \| MGI Sequence Detail	4194	Not Applicable
polypeptide	ENSMUSP00000148422	Ensembl \| MGI Sequence Detail	1397	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000029598 capping protein, Arp2/3 and myosin-I linker protein 2

(term hierarchy)
InterPro Domains

IPR031943 CARMIL, C-terminal domain

IPR041245 CARMIL, pleckstrin homology domain

IPR001611 Leucine-rich repeat

IPR032675 Leucine-rich repeat domain superfamily

IPR011993 PH-like domain superfamily

IPR051279 Protein Phosphatase 1 Regulatory and Actin Interaction Protein

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All nucleic 3

cDNA 3

Microarray probesets 2

Summaries

All 25

Gene Ontology 5

Phenotypes 5
Earliest

J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Carmil2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr79176	Chr8:106412619-106412633 (+)	-280 bp
Tssr79177	Chr8:106412659-106412688 (+)	-232 bp
Tssr79178	Chr8:106412778-106412860 (+)	-87 bp
Tssr79179	Chr8:106412863-106412902 (+)	-23 bp
Tssr79180	Chr8:106412905-106412925 (+)	9 bp
Tssr79181	Chr8:106420458-106420512 (+)	7,579 bp
Tssr79182	Chr8:106420558-106420645 (+)	7,696 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24