Incidental Mutation 'R6179:Ccr2'
ID 487938
Institutional Source Beutler Lab
Gene Symbol Ccr2
Ensembl Gene ENSMUSG00000049103
Gene Name C-C motif chemokine receptor 2
Synonyms CKR2B, CC-CKR-2, Cmkbr2, CCR2A, CCR2B, CKR2, CKR2A
MMRRC Submission 044321-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6179 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 123901987-123913594 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 123906008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 96 (N96T)
Ref Sequence ENSEMBL: ENSMUSP00000130112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055918] [ENSMUST00000165984] [ENSMUST00000168841] [ENSMUST00000171719]
AlphaFold P51683
Predicted Effect probably damaging
Transcript: ENSMUST00000055918
AA Change: N96T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049909
Gene: ENSMUSG00000049103
AA Change: N96T

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 66 332 4.8e-8 PFAM
Pfam:7tm_1 72 318 1.5e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165984
AA Change: N96T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128734
Gene: ENSMUSG00000049103
AA Change: N96T

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 66 332 4.8e-8 PFAM
Pfam:7tm_1 72 318 2.9e-59 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168841
AA Change: N96T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132453
Gene: ENSMUSG00000049103
AA Change: N96T

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 66 332 4.8e-8 PFAM
Pfam:7tm_1 72 318 2.9e-59 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171719
AA Change: N96T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130112
Gene: ENSMUSG00000049103
AA Change: N96T

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 66 332 4.8e-8 PFAM
Pfam:7tm_1 72 318 2.9e-59 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.5%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 19,003,653 (GRCm39) probably benign Het
4930590J08Rik T C 6: 91,919,311 (GRCm39) S657P probably damaging Het
Abca9 T C 11: 110,025,080 (GRCm39) I988V probably benign Het
Acte1 A G 7: 143,425,524 (GRCm39) T58A probably benign Het
Aox4 T A 1: 58,270,662 (GRCm39) D280E probably benign Het
Apob T A 12: 8,055,060 (GRCm39) L1353* probably null Het
Atp2b1 C T 10: 98,858,691 (GRCm39) R222C probably damaging Het
AW209491 T G 13: 14,811,668 (GRCm39) S174A possibly damaging Het
B930094E09Rik G C 18: 31,742,911 (GRCm39) probably benign Het
Cbln3 G T 14: 56,121,517 (GRCm39) P43Q possibly damaging Het
Ccdc181 A T 1: 164,107,487 (GRCm39) T57S probably benign Het
Cep131 T C 11: 119,956,837 (GRCm39) I868V probably benign Het
Chd2 A G 7: 73,094,071 (GRCm39) I1535T probably damaging Het
Chl1 A T 6: 103,660,204 (GRCm39) T377S probably benign Het
Cpeb3 A G 19: 37,065,853 (GRCm39) F439L probably damaging Het
Crb2 T C 2: 37,680,269 (GRCm39) V399A probably damaging Het
Cry2 C T 2: 92,244,187 (GRCm39) G329R probably damaging Het
Dock4 A G 12: 40,781,868 (GRCm39) E691G probably benign Het
Edil3 A T 13: 88,970,108 (GRCm39) H3L probably benign Het
Endod1 T C 9: 14,268,757 (GRCm39) I243V probably benign Het
Fpr3 G A 17: 18,190,919 (GRCm39) W63* probably null Het
Gtse1 T G 15: 85,753,158 (GRCm39) N424K possibly damaging Het
Kcnt1 G A 2: 25,783,192 (GRCm39) V252M probably damaging Het
Kifbp G A 10: 62,399,029 (GRCm39) Q130* probably null Het
Lmbrd2 T G 15: 9,149,262 (GRCm39) I48M probably damaging Het
Lrrc7 T G 3: 158,059,069 (GRCm39) I13L probably damaging Het
Mbd4 A G 6: 115,822,386 (GRCm39) S408P probably benign Het
Mphosph10 A G 7: 64,028,529 (GRCm39) V542A possibly damaging Het
Msto1 C A 3: 88,818,254 (GRCm39) R331L probably damaging Het
Myh10 G A 11: 68,692,979 (GRCm39) E1425K probably damaging Het
Nup43 T C 10: 7,554,437 (GRCm39) I340T probably benign Het
Or1j4 T C 2: 36,740,846 (GRCm39) S263P possibly damaging Het
Pcm1 T A 8: 41,736,669 (GRCm39) M884K probably damaging Het
Phf20 T A 2: 156,140,573 (GRCm39) L749H probably damaging Het
Pigp T C 16: 94,171,226 (GRCm39) R22G probably null Het
Polr2b T C 5: 77,468,824 (GRCm39) M200T probably damaging Het
Ppig T A 2: 69,580,471 (GRCm39) D668E unknown Het
Prss3 G A 6: 41,352,060 (GRCm39) R68C probably benign Het
Retreg3 G A 11: 100,994,721 (GRCm39) probably benign Het
Shank1 T C 7: 44,006,630 (GRCm39) F2116L possibly damaging Het
Spg21 T C 9: 65,376,090 (GRCm39) S33P possibly damaging Het
Spns3 A G 11: 72,390,349 (GRCm39) S432P probably damaging Het
Stra6 A G 9: 58,042,452 (GRCm39) E27G probably damaging Het
Tanc1 A G 2: 59,673,320 (GRCm39) Q1468R probably benign Het
Tbce T G 13: 14,194,362 (GRCm39) E99A probably benign Het
Tmem106b T C 6: 13,084,252 (GRCm39) V252A probably damaging Het
Trim10 A G 17: 37,187,923 (GRCm39) T380A probably damaging Het
Trim31 T A 17: 37,220,501 (GRCm39) D472E probably damaging Het
Vmn2r28 G A 7: 5,491,003 (GRCm39) Q415* probably null Het
Vwf G A 6: 125,626,252 (GRCm39) C7Y unknown Het
Yeats2 C T 16: 20,033,225 (GRCm39) P1088L probably benign Het
Zfp40 C A 17: 23,397,354 (GRCm39) V48L possibly damaging Het
Other mutations in Ccr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01816:Ccr2 APN 9 123,906,235 (GRCm39) missense probably benign
IGL02678:Ccr2 APN 9 123,906,783 (GRCm39) missense probably benign 0.00
IGL02962:Ccr2 APN 9 123,905,712 (GRCm39) splice site probably benign
IGL03330:Ccr2 APN 9 123,905,996 (GRCm39) missense probably damaging 1.00
IGL03381:Ccr2 APN 9 123,906,409 (GRCm39) missense probably benign 0.22
R0499:Ccr2 UTSW 9 123,906,163 (GRCm39) missense possibly damaging 0.77
R0499:Ccr2 UTSW 9 123,905,976 (GRCm39) missense possibly damaging 0.55
R0602:Ccr2 UTSW 9 123,906,658 (GRCm39) missense probably benign 0.02
R0714:Ccr2 UTSW 9 123,905,966 (GRCm39) missense probably benign
R1975:Ccr2 UTSW 9 123,906,830 (GRCm39) missense probably benign 0.05
R4785:Ccr2 UTSW 9 123,906,409 (GRCm39) missense probably benign 0.22
R5858:Ccr2 UTSW 9 123,906,464 (GRCm39) missense probably benign 0.45
R5901:Ccr2 UTSW 9 123,906,239 (GRCm39) missense possibly damaging 0.50
R6933:Ccr2 UTSW 9 123,906,161 (GRCm39) missense probably damaging 1.00
R7353:Ccr2 UTSW 9 123,906,793 (GRCm39) missense probably damaging 1.00
R7515:Ccr2 UTSW 9 123,906,197 (GRCm39) missense probably damaging 1.00
R7575:Ccr2 UTSW 9 123,905,843 (GRCm39) missense probably benign
R8743:Ccr2 UTSW 9 123,906,131 (GRCm39) missense probably damaging 0.99
R8746:Ccr2 UTSW 9 123,906,448 (GRCm39) missense probably benign 0.00
R9215:Ccr2 UTSW 9 123,906,023 (GRCm39) missense probably damaging 1.00
R9558:Ccr2 UTSW 9 123,906,104 (GRCm39) missense possibly damaging 0.55
R9682:Ccr2 UTSW 9 123,906,176 (GRCm39) missense probably damaging 0.99
X0026:Ccr2 UTSW 9 123,905,943 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CGATGATGGTGAGCCTTGTC -3'
(R):5'- CTACACTTGTTATCACCCCAAAGG -3'

Sequencing Primer
(F):5'- GGTGAGCCTTGTCATAAAACC -3'
(R):5'- GGTAACTGTCCTGGCTTTTAAAG -3'
Posted On 2017-10-10