Incidental Mutation 'IGL02678:Ccr2'
ID303257
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 #IGL02678
Quality Score
Status
Chromosome9
Chromosomal Location124101950-124113557 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 124106746 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 354 (D354E)
Ref Sequence ENSEMBL: ENSMUSP00000130112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055918] [ENSMUST00000165984] [ENSMUST00000168841] [ENSMUST00000171719]
Predicted Effect probably benign
Transcript: ENSMUST00000055918
AA Change: D354E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000049909
Gene: ENSMUSG00000049103
AA Change: D354E

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
AA Change: D354E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000128734
Gene: ENSMUSG00000049103
AA Change: D354E

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
AA Change: D354E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000132453
Gene: ENSMUSG00000049103
AA Change: D354E

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
AA Change: D354E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000130112
Gene: ENSMUSG00000049103
AA Change: D354E

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,228,917 Y360C probably damaging Het
Aasdh A G 5: 76,888,020 probably benign Het
Adgrb1 A G 15: 74,538,328 E272G probably damaging Het
Alcam G A 16: 52,274,038 P416S probably damaging Het
B3galt1 A G 2: 68,118,910 H323R probably benign Het
Bahcc1 G A 11: 120,272,871 S665N probably damaging Het
Birc6 T C 17: 74,649,903 S3631P probably damaging Het
Capn3 A C 2: 120,502,998 N621T probably damaging Het
Ccdc162 G A 10: 41,561,155 H480Y probably damaging Het
Cdc42bpb T G 12: 111,326,096 D335A probably damaging Het
Chrd G T 16: 20,734,020 R89L probably damaging Het
Cops2 T C 2: 125,844,911 R91G probably benign Het
Ddi1 T C 9: 6,266,106 T88A probably benign Het
Dnaic1 A C 4: 41,602,917 E140A probably benign Het
Gcn1l1 A G 5: 115,613,755 D2063G probably damaging Het
Gdpd4 A T 7: 97,974,377 probably benign Het
Gif T C 19: 11,748,475 M43T probably damaging Het
Gm13212 A T 4: 145,622,497 H168L probably damaging Het
Gm2075 C A 12: 88,012,176 P110Q possibly damaging Het
Gm6614 A T 6: 142,008,718 Y10N probably damaging Het
Gng7 C A 10: 80,951,684 L48F probably damaging Het
Htt G T 5: 34,899,902 C2725F probably damaging Het
Inpp4b A G 8: 81,856,744 K159R probably damaging Het
Insr G T 8: 3,173,570 N854K probably benign Het
Ktn1 A T 14: 47,734,153 probably null Het
Lcat A G 8: 105,941,940 probably null Het
Mb21d2 T C 16: 28,828,049 E391G probably benign Het
Mms19 A G 19: 41,954,476 S354P possibly damaging Het
Mx2 G A 16: 97,556,120 probably null Het
Mycl G A 4: 122,999,983 R192Q probably damaging Het
Mzf1 A G 7: 13,052,909 V78A possibly damaging Het
Nipbl G T 15: 8,351,110 P733T possibly damaging Het
Nploc4 A G 11: 120,389,372 I450T probably benign Het
Olfr948 C T 9: 39,318,921 S231N probably benign Het
Omd A T 13: 49,592,281 E389V probably benign Het
Oxgr1 A G 14: 120,022,168 L209P probably damaging Het
Pak1 A C 7: 97,894,002 T291P probably damaging Het
Pcmtd1 T A 1: 7,169,821 I338K probably damaging Het
Phrf1 A G 7: 141,260,282 D364G probably damaging Het
Pomk G A 8: 25,983,107 P273S probably damaging Het
Psg22 A T 7: 18,719,493 I38F probably damaging Het
Rbks G T 5: 31,673,413 T42N probably damaging Het
Rrbp1 A G 2: 143,990,187 V20A probably damaging Het
Six4 T C 12: 73,112,634 Y176C probably damaging Het
Slc11a2 T A 15: 100,412,200 M9L possibly damaging Het
Slc16a11 T C 11: 70,215,416 L112S probably damaging Het
Slc25a28 A T 19: 43,667,147 probably benign Het
Slc30a3 G A 5: 31,088,332 R237* probably null Het
Smc1b G A 15: 85,065,000 R1237* probably null Het
Smtn T C 11: 3,526,353 E585G possibly damaging Het
Spatc1 A T 15: 76,292,372 D441V probably damaging Het
Tenm4 A G 7: 96,896,219 N2481D probably damaging Het
Tnks2 A T 19: 36,845,743 I137F possibly damaging Het
Trip11 T C 12: 101,883,390 K1472E probably damaging Het
Ttn C A 2: 76,878,316 E1846* probably null Het
Vwa8 A G 14: 78,984,200 D532G probably damaging Het
Zfp977 G A 7: 42,582,995 T14I probably damaging Het
Other mutations in Ccr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01816:Ccr2 APN 9 124106198 missense probably benign
IGL02962:Ccr2 APN 9 124105675 splice site probably benign
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
X0026:Ccr2 UTSW 9 124105906 missense probably benign 0.00
Posted On2015-04-16