Incidental Mutation 'R5817:Xcr1'
ID 449111
Institutional Source Beutler Lab
Gene Symbol Xcr1
Ensembl Gene ENSMUSG00000060509
Gene Name chemokine (C motif) receptor 1
Synonyms GPR5, C motif-1/lymphotactin receptor, Ccxcr1, XCR1
MMRRC Submission 043397-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R5817 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 123681380-123691094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 123684922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 280 (C280Y)
Ref Sequence ENSEMBL: ENSMUSP00000138255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084715] [ENSMUST00000167595] [ENSMUST00000182350] [ENSMUST00000184082]
AlphaFold Q9R0M1
Predicted Effect probably benign
Transcript: ENSMUST00000084715
SMART Domains Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241

DomainStartEndE-ValueType
Pfam:RUN 19 167 4.7e-12 PFAM
low complexity region 196 206 N/A INTRINSIC
coiled coil region 223 270 N/A INTRINSIC
coiled coil region 348 1110 N/A INTRINSIC
FYVE 1124 1191 2.69e-16 SMART
PDB:1OLM|E 1343 1428 1e-5 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000167595
SMART Domains Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241

DomainStartEndE-ValueType
Pfam:RUN 20 167 7.8e-12 PFAM
low complexity region 196 206 N/A INTRINSIC
coiled coil region 223 270 N/A INTRINSIC
coiled coil region 348 1110 N/A INTRINSIC
FYVE 1124 1191 2.69e-16 SMART
PDB:1OLM|E 1343 1428 1e-5 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000182350
AA Change: C280Y

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138255
Gene: ENSMUSG00000060509
AA Change: C280Y

DomainStartEndE-ValueType
low complexity region 48 59 N/A INTRINSIC
Pfam:7tm_1 60 295 1.9e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183700
Predicted Effect probably benign
Transcript: ENSMUST00000184082
SMART Domains Protein: ENSMUSP00000139343
Gene: ENSMUSG00000025241

DomainStartEndE-ValueType
Pfam:RUN 7 167 4.5e-12 PFAM
low complexity region 196 206 N/A INTRINSIC
coiled coil region 223 270 N/A INTRINSIC
low complexity region 355 366 N/A INTRINSIC
Meta Mutation Damage Score 0.3627 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a chemokine receptor belonging to the G protein-coupled receptor superfamily. The family members are characterized by the presence of 7 transmembrane domains and numerous conserved amino acids. This receptor is most closely related to RBS11 and the MIP1-alpha/RANTES receptor. It transduces a signal by increasing the intracellular calcium ions level. The viral macrophage inflammatory protein-II is an antagonist of this receptor and blocks signaling. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit reduced CD8+ dendritic cell migration in response to XCL1. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A G 4: 144,349,497 (GRCm39) I251M probably benign Het
Abcf3 T C 16: 20,367,833 (GRCm39) V63A possibly damaging Het
Agpat4 C T 17: 12,434,097 (GRCm39) probably benign Het
Ahcyl2 G A 6: 29,890,720 (GRCm39) V292M probably damaging Het
Ahnak2 A T 12: 112,740,437 (GRCm39) F406I probably damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arhgef5 G A 6: 43,252,038 (GRCm39) D930N probably benign Het
Cc2d2a G A 5: 43,869,760 (GRCm39) R887Q probably damaging Het
Ceacam18 A G 7: 43,291,265 (GRCm39) T236A probably benign Het
Chst15 A T 7: 131,870,873 (GRCm39) Y221N probably damaging Het
Chst15 G A 7: 131,870,876 (GRCm39) L220F probably damaging Het
Cntn2 G A 1: 132,446,486 (GRCm39) T784I probably benign Het
D630003M21Rik A G 2: 158,038,413 (GRCm39) L1011P probably damaging Het
Dync2h1 T A 9: 6,996,905 (GRCm39) D3894V probably damaging Het
Eif1ad19 G T 12: 87,740,201 (GRCm39) D119E probably benign Het
Fam13b T C 18: 34,590,850 (GRCm39) M443V possibly damaging Het
Fam20a T A 11: 109,564,244 (GRCm39) Q503L possibly damaging Het
Ftdc2 T C 16: 58,457,156 (GRCm39) I89V probably benign Het
Gm11677 C T 11: 111,615,537 (GRCm39) noncoding transcript Het
Gm5454 T A 13: 103,493,140 (GRCm39) noncoding transcript Het
Gm5581 A G 6: 131,144,132 (GRCm39) noncoding transcript Het
Gm6619 A G 6: 131,463,400 (GRCm39) I6V unknown Het
Gmcl1 A G 6: 86,691,230 (GRCm39) M255T probably damaging Het
Golm2 T A 2: 121,736,525 (GRCm39) S231T probably benign Het
Gprc5c T A 11: 114,754,450 (GRCm39) C42* probably null Het
Hmcn1 T A 1: 150,613,275 (GRCm39) E1384V possibly damaging Het
Il6 A G 5: 30,223,006 (GRCm39) I91V probably benign Het
Kmt2d A T 15: 98,760,244 (GRCm39) S1005T unknown Het
Map1a A T 2: 121,129,391 (GRCm39) H143L possibly damaging Het
Mical2 A T 7: 111,922,866 (GRCm39) T624S probably benign Het
Msh3 A T 13: 92,422,508 (GRCm39) N549K possibly damaging Het
Ncr1 T A 7: 4,343,894 (GRCm39) I164N possibly damaging Het
Or10ak11 T G 4: 118,687,296 (GRCm39) T115P probably damaging Het
Or51a5 A T 7: 102,771,115 (GRCm39) M292K possibly damaging Het
Or52m1 A G 7: 102,289,585 (GRCm39) N44S probably damaging Het
Or8d2b A G 9: 38,788,673 (GRCm39) D67G probably damaging Het
Palmd T C 3: 116,712,272 (GRCm39) I541M probably benign Het
Pcsk7 A T 9: 45,837,331 (GRCm39) M552L probably benign Het
Plekhh2 A G 17: 84,879,154 (GRCm39) E626G possibly damaging Het
Pole G A 5: 110,460,838 (GRCm39) D1176N probably damaging Het
Polr2f T C 15: 79,035,869 (GRCm39) I110T probably damaging Het
Pomt1 A T 2: 32,138,691 (GRCm39) I436F probably damaging Het
Prag1 A C 8: 36,570,857 (GRCm39) Q480P probably damaging Het
Qars1 C T 9: 108,387,441 (GRCm39) probably benign Het
Ralgapa2 G A 2: 146,175,406 (GRCm39) S1797L probably damaging Het
Rbm26 T C 14: 105,366,039 (GRCm39) T832A probably damaging Het
Rnf169 A G 7: 99,574,976 (GRCm39) S540P probably benign Het
Serpini1 T A 3: 75,520,631 (GRCm39) M76K probably benign Het
Shq1 A G 6: 100,550,681 (GRCm39) L419S probably damaging Het
Slc25a17 G A 15: 81,211,261 (GRCm39) T225M probably damaging Het
Slc6a5 C A 7: 49,606,239 (GRCm39) L716I probably benign Het
Smc1b A G 15: 84,951,984 (GRCm39) V1149A probably damaging Het
Trappc1 A T 11: 69,215,060 (GRCm39) Q26L possibly damaging Het
Trpm2 C A 10: 77,801,814 (GRCm39) G84W probably damaging Het
Ttn G A 2: 76,573,010 (GRCm39) T24215M probably damaging Het
Ubn2 C A 6: 38,456,088 (GRCm39) T337K probably damaging Het
Ubr4 A G 4: 139,196,158 (GRCm39) K1265E probably damaging Het
Vmn1r214 T G 13: 23,219,491 (GRCm39) I328M probably damaging Het
Zc3h13 A G 14: 75,565,572 (GRCm39) E895G probably damaging Het
Other mutations in Xcr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03324:Xcr1 APN 9 123,685,549 (GRCm39) missense probably benign 0.26
R0049:Xcr1 UTSW 9 123,684,940 (GRCm39) missense possibly damaging 0.49
R0049:Xcr1 UTSW 9 123,684,940 (GRCm39) missense possibly damaging 0.49
R0318:Xcr1 UTSW 9 123,685,219 (GRCm39) missense possibly damaging 0.92
R0683:Xcr1 UTSW 9 123,684,940 (GRCm39) missense probably benign 0.03
R4107:Xcr1 UTSW 9 123,685,153 (GRCm39) missense possibly damaging 0.67
R4127:Xcr1 UTSW 9 123,685,561 (GRCm39) missense probably damaging 1.00
R4859:Xcr1 UTSW 9 123,685,712 (GRCm39) missense probably benign
R5408:Xcr1 UTSW 9 123,685,631 (GRCm39) missense probably benign 0.00
R5419:Xcr1 UTSW 9 123,685,375 (GRCm39) missense probably benign 0.06
R6051:Xcr1 UTSW 9 123,685,181 (GRCm39) missense probably benign 0.01
R6384:Xcr1 UTSW 9 123,684,847 (GRCm39) missense probably damaging 1.00
R6395:Xcr1 UTSW 9 123,684,854 (GRCm39) missense probably damaging 0.96
R6528:Xcr1 UTSW 9 123,685,048 (GRCm39) missense probably damaging 1.00
R6594:Xcr1 UTSW 9 123,685,309 (GRCm39) missense probably benign 0.00
R6990:Xcr1 UTSW 9 123,685,300 (GRCm39) missense probably benign 0.15
R7648:Xcr1 UTSW 9 123,685,657 (GRCm39) missense possibly damaging 0.54
R9276:Xcr1 UTSW 9 123,685,680 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCTCAGTAGAAGGAGGGTCC -3'
(R):5'- ATGGGTTCTTGGCCTCAGTC -3'

Sequencing Primer
(F):5'- GGGTCCCTCATATGTAAAGGTACC -3'
(R):5'- CTCAGGACTTTGTTTCGCACAAGG -3'
Posted On 2016-12-20