Incidental Mutation 'IGL02962:Ccr2'
ID365413
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccr2
Ensembl Gene ENSMUSG00000049103
Gene Namechemokine (C-C motif) receptor 2
SynonymsCmkbr2, CKR2A, CC-CKR-2, CKR2B, CCR2B, CKR2, CCR2A
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02962
Quality Score
Status
Chromosome9
Chromosomal Location124101950-124113557 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 124105675 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055918] [ENSMUST00000165984] [ENSMUST00000168841] [ENSMUST00000171719]
Predicted Effect probably benign
Transcript: ENSMUST00000055918
SMART Domains Protein: ENSMUSP00000049909
Gene: ENSMUSG00000049103

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 66 332 4.8e-8 PFAM
Pfam:7tm_1 72 318 1.5e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165984
SMART Domains Protein: ENSMUSP00000128734
Gene: ENSMUSG00000049103

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 66 332 4.8e-8 PFAM
Pfam:7tm_1 72 318 2.9e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168841
SMART Domains Protein: ENSMUSP00000132453
Gene: ENSMUSG00000049103

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 66 332 4.8e-8 PFAM
Pfam:7tm_1 72 318 2.9e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171719
SMART Domains Protein: ENSMUSP00000130112
Gene: ENSMUSG00000049103

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 66 332 4.8e-8 PFAM
Pfam:7tm_1 72 318 2.9e-59 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes two isoforms of a receptor for monocyte chemoattractant protein-1, a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved in monocyte infiltration in inflammatory diseases such as rheumatoid arthritis as well as in the inflammatory response against tumors. The receptors encoded by this gene mediate agonist-dependent calcium mobilization and inhibition of adenylyl cyclase. This gene is located in the chemokine receptor gene cluster region. Two alternatively spliced transcript variants are expressed by the gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in leukocyte physiology that result in altered response to myocardial infarction and increased susceptibility to bacterial infection and colitis. Mice may also exhibit retinal degeneration and alcohol aversion depending on the knock-out allele. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,610,593 probably null Het
9530068E07Rik T C 11: 52,403,535 V209A possibly damaging Het
Abca3 T A 17: 24,400,409 V907E probably damaging Het
Acvrl1 T C 15: 101,135,501 Y90H probably benign Het
Aff3 T C 1: 38,535,656 D81G probably damaging Het
Amn G T 12: 111,274,517 V152L probably damaging Het
Arhgap44 A G 11: 65,067,161 probably benign Het
Atad5 T A 11: 80,108,579 V895D possibly damaging Het
Card9 T G 2: 26,358,017 probably null Het
Ccer1 T C 10: 97,693,840 S122P unknown Het
Dsg1a T A 18: 20,340,324 I818N possibly damaging Het
Ear10 G T 14: 43,923,317 L18I probably damaging Het
Gm13089 T A 4: 143,697,340 E293V probably benign Het
Mertk A G 2: 128,777,454 Y544C probably damaging Het
Miga1 A T 3: 152,285,341 probably benign Het
Myo18a T C 11: 77,778,235 V307A probably damaging Het
Olfr1354 T A 10: 78,916,939 L33H probably damaging Het
Olfr488 A T 7: 108,255,703 I145N possibly damaging Het
Pou2f3 T C 9: 43,125,089 probably benign Het
Prickle2 A C 6: 92,376,422 S744A probably benign Het
Prkcb T A 7: 122,425,047 probably null Het
Prkd2 A G 7: 16,869,832 T813A probably benign Het
Prkra G A 2: 76,633,547 T257M probably damaging Het
Rbm18 C T 2: 36,122,874 R102Q probably damaging Het
Rbsn A G 6: 92,190,326 S446P probably benign Het
Rpgrip1l A T 8: 91,270,362 V28D possibly damaging Het
Sdccag8 A T 1: 176,948,362 K613I probably damaging Het
Serbp1 G A 6: 67,267,119 G8D probably damaging Het
Slc6a2 T A 8: 92,972,762 Y139* probably null Het
Slc7a2 T A 8: 40,905,584 F321L probably damaging Het
Slco1b2 G A 6: 141,648,553 S48N probably damaging Het
Ssbp2 G T 13: 91,642,371 V118L possibly damaging Het
Sugp1 T A 8: 70,059,862 probably benign Het
Taar5 C A 10: 23,970,985 R94S possibly damaging Het
Tgs1 G T 4: 3,586,181 A353S probably benign Het
Trav1 A G 14: 52,428,642 E32G probably damaging Het
Trp53bp2 T C 1: 182,431,595 V71A probably benign Het
Vmn2r50 T C 7: 10,050,325 Y74C probably damaging Het
Wars A T 12: 108,875,780 M147K probably damaging Het
Other mutations in Ccr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01816:Ccr2 APN 9 124106198 missense probably benign
IGL02678:Ccr2 APN 9 124106746 missense probably benign 0.00
IGL03330:Ccr2 APN 9 124105959 missense probably damaging 1.00
IGL03381:Ccr2 APN 9 124106372 missense probably benign 0.22
R0499:Ccr2 UTSW 9 124105939 missense possibly damaging 0.55
R0499:Ccr2 UTSW 9 124106126 missense possibly damaging 0.77
R0602:Ccr2 UTSW 9 124106621 missense probably benign 0.02
R0714:Ccr2 UTSW 9 124105929 missense probably benign
R1975:Ccr2 UTSW 9 124106793 missense probably benign 0.05
R4785:Ccr2 UTSW 9 124106372 missense probably benign 0.22
R5858:Ccr2 UTSW 9 124106427 missense probably benign 0.45
R5901:Ccr2 UTSW 9 124106202 missense possibly damaging 0.50
R6179:Ccr2 UTSW 9 124105971 missense probably damaging 1.00
R6933:Ccr2 UTSW 9 124106124 missense probably damaging 1.00
R7353:Ccr2 UTSW 9 124106756 missense probably damaging 1.00
R7515:Ccr2 UTSW 9 124106160 missense probably damaging 1.00
R7575:Ccr2 UTSW 9 124105806 missense probably benign
X0026:Ccr2 UTSW 9 124105906 missense probably benign 0.00
Posted On2015-12-18