Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00948:Ccl2'

28568

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccl2

Ensembl Gene

ENSMUSG00000035385

Gene Name

chemokine (C-C motif) ligand 2

Synonyms

Sigje, SMC-CF, monocyte chemoattractant protein-1, MCP1, MCP-1, monocyte chemotactic protein, Scya2, HC11, MCAF

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

IGL00948

Quality Score

Status

Chromosome

Chromosomal Location

82035571-82037453 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82035732 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 24 (Q24L)

Ref Sequence

ENSEMBL: ENSMUSP00000000193 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000193] [ENSMUST00000171515]

AlphaFold

P10148

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000193
AA Change: Q24L

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000000193
Gene: ENSMUSG00000035385
AA Change: Q24L

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
SCY	31	90	4.63e-32	SMART
low complexity region	128	147	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124479

Predicted Effect

probably benign
Transcript: ENSMUST00000171515

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is one of several cytokine genes clustered on chromosome 11. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and memory T cells but not for neutrophils. The human ortholog has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, such as psoriasis, rheumatoid arthritis, and atherosclerosis. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defective macrophage recruitment, abnormal choroid morphology, photoreceptor degeneration, and altered response to injury, infection, alcohol, and a high fat diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd33	G	A	7: 43,529,558		probably benign	Het
Cmya5	T	C	13: 93,091,036	I2515V	probably benign	Het
Cntnap5b	A	G	1: 100,141,357	T101A	probably benign	Het
Cyp4a12a	T	A	4: 115,301,962	M143K	probably damaging	Het
Ephb4	C	A	5: 137,366,659	S663R	probably damaging	Het
Gm4847	T	C	1: 166,630,338	D482G	probably benign	Het
Gskip	C	A	12: 105,698,844	N47K	probably damaging	Het
Kmt2c	T	C	5: 25,377,161	Y473C	probably benign	Het
Lrrc7	T	A	3: 158,161,557	N849I	probably damaging	Het
Magel2	T	A	7: 62,379,322	V658E	unknown	Het
Nmral1	C	T	16: 4,716,406	G57E	probably damaging	Het
Olfr801	A	T	10: 129,669,887	L211I	probably damaging	Het
Olfr921	C	T	9: 38,775,812	Q186*	probably null	Het
Padi3	C	A	4: 140,788,943	R542L	possibly damaging	Het
Plrg1	T	C	3: 83,068,119	V260A	probably damaging	Het
Prex2	A	G	1: 11,170,614	H982R	probably damaging	Het
Rbm26	T	A	14: 105,150,343	T448S	probably damaging	Het
Ryr1	C	T	7: 29,020,195	M4262I	possibly damaging	Het
Slc41a3	A	T	6: 90,645,714	D441V	probably damaging	Het
Slc7a2	A	G	8: 40,912,524	E448G	probably benign	Het
Smtnl2	C	A	11: 72,411,241		probably null	Het
Tox3	G	A	8: 90,270,434	P66L	probably damaging	Het
Vmn1r19	T	C	6: 57,405,262	F267L	probably benign	Het
Vmn2r12	A	G	5: 109,097,675	S64P	possibly damaging	Het
Zfp764	T	C	7: 127,405,204	S252G	possibly damaging	Het

Other mutations in Ccl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01807:Ccl2	APN	11	82035687	missense	possibly damaging	0.88
R2227:Ccl2	UTSW	11	82036601	critical splice donor site	probably null
R3772:Ccl2	UTSW	11	82036958	missense	probably damaging	1.00
R4027:Ccl2	UTSW	11	82037059	missense	probably benign	0.23
R5049:Ccl2	UTSW	11	82036507	missense	probably damaging	0.99
R5073:Ccl2	UTSW	11	82037158	intron	probably benign
R6289:Ccl2	UTSW	11	82036969	missense	probably benign	0.03
R7041:Ccl2	UTSW	11	82035663	start codon destroyed	probably null	1.00
R8392:Ccl2	UTSW	11	82036982	missense	probably damaging	0.98
R8783:Ccl2	UTSW	11	82036534	missense	probably damaging	1.00

Posted On

2013-04-17