Incidental Mutation 'R2071:Xpr1'
ID 227108
Institutional Source Beutler Lab
Gene Symbol Xpr1
Ensembl Gene ENSMUSG00000026469
Gene Name xenotropic and polytropic retrovirus receptor 1
Synonyms suppressor of yeast G deletion, Rmc1, Rmc-1, Syg1
MMRRC Submission 040076-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.804) question?
Stock # R2071 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 155151447-155293161 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155166026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 574 (T574A)
Ref Sequence ENSEMBL: ENSMUSP00000107404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027741] [ENSMUST00000111774] [ENSMUST00000111775]
AlphaFold Q9Z0U0
Predicted Effect probably benign
Transcript: ENSMUST00000027741
AA Change: T574A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000027741
Gene: ENSMUSG00000026469
AA Change: T574A

DomainStartEndE-ValueType
Pfam:SPX 1 174 1.4e-33 PFAM
transmembrane domain 235 257 N/A INTRINSIC
Pfam:EXS 268 616 5.8e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111774
AA Change: T574A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000107404
Gene: ENSMUSG00000026469
AA Change: T574A

DomainStartEndE-ValueType
Pfam:SPX 1 176 1.5e-38 PFAM
transmembrane domain 235 257 N/A INTRINSIC
Pfam:EXS 267 617 2.4e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111775
AA Change: T509A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000107405
Gene: ENSMUSG00000026469
AA Change: T509A

DomainStartEndE-ValueType
Pfam:SPX 1 176 4.5e-39 PFAM
transmembrane domain 235 257 N/A INTRINSIC
Pfam:EXS 267 434 3.6e-45 PFAM
Pfam:EXS 432 552 3.6e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192359
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
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 receptor for the xenotropic and polytropic classes of murine leukemia viruses. The encoded protein is involved in phosphate homeostasis by mediating phosphate export from the cell. Defects in this gene have been associated with idiopathic basal ganglia calcification-6. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygotes and heterozygotes for a variant from some wild Mus stocks, including M. spretus, support replication of xenotropic murine leukemia viruses and mink cell focus-forming murine leukemia viruses that are not replicated in most laboratory strains. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik T A 1: 57,422,474 (GRCm39) H283Q probably damaging Het
2810021J22Rik A G 11: 58,767,595 (GRCm39) K31E probably damaging Het
Abcc10 G C 17: 46,614,491 (GRCm39) N1477K probably benign Het
Adam33 T C 2: 130,897,266 (GRCm39) T310A probably benign Het
Afm A G 5: 90,671,594 (GRCm39) D92G probably benign Het
Arg1 C T 10: 24,798,561 (GRCm39) A30T probably benign Het
Ash1l C G 3: 88,873,510 (GRCm39) P98A probably damaging Het
Atad5 A T 11: 79,988,878 (GRCm39) probably null Het
Atg2a T C 19: 6,307,488 (GRCm39) V1474A probably benign Het
Atp12a A G 14: 56,603,466 (GRCm39) K24E probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
B3gnt4 A T 5: 123,649,433 (GRCm39) H266L probably benign Het
Bora T C 14: 99,299,714 (GRCm39) S229P probably damaging Het
Ccn1 C T 3: 145,354,428 (GRCm39) W161* probably null Het
Cdsn A T 17: 35,865,591 (GRCm39) D40V probably damaging Het
Cep295 T C 9: 15,252,860 (GRCm39) R323G probably damaging Het
Chek2 T C 5: 110,989,112 (GRCm39) probably benign Het
Chga A T 12: 102,529,122 (GRCm39) K366N probably damaging Het
Chrm5 T C 2: 112,309,572 (GRCm39) K515E probably null Het
Cmtr1 A G 17: 29,913,757 (GRCm39) probably null Het
Dsg3 T C 18: 20,669,882 (GRCm39) L632S probably damaging Het
Eif1ad8 T A 12: 87,563,822 (GRCm39) F52L probably benign Het
Fzd3 A G 14: 65,473,012 (GRCm39) F252S probably damaging Het
Gas2l2 T C 11: 83,312,775 (GRCm39) K846E probably benign Het
Gpatch11 T C 17: 79,148,514 (GRCm39) probably null Het
Gucy2g T A 19: 55,210,772 (GRCm39) Y661F possibly damaging Het
Hhip A G 8: 80,783,931 (GRCm39) F72L probably benign Het
Kat14 T C 2: 144,231,136 (GRCm39) L181P probably damaging Het
Kifc3 A T 8: 95,834,981 (GRCm39) probably null Het
Kntc1 G T 5: 123,932,340 (GRCm39) probably null Het
Man2b1 G T 8: 85,812,013 (GRCm39) V156L possibly damaging Het
Mast1 T C 8: 85,647,823 (GRCm39) D517G probably damaging Het
Mc1r T C 8: 124,135,108 (GRCm39) L287P possibly damaging Het
Mctp1 A T 13: 76,907,843 (GRCm39) E238V probably damaging Het
Mmp12 T A 9: 7,349,725 (GRCm39) I52N probably damaging Het
Morc1 C T 16: 48,412,974 (GRCm39) T705I probably benign Het
Mrpl24 T C 3: 87,830,374 (GRCm39) probably null Het
Nap1l1 C T 10: 111,328,761 (GRCm39) T230I possibly damaging Het
Niban1 T C 1: 151,512,181 (GRCm39) F28L probably damaging Het
Nmral1 T A 16: 4,534,211 (GRCm39) I77F probably damaging Het
Nudt13 T A 14: 20,354,045 (GRCm39) D36E probably damaging Het
Oxsm A G 14: 16,241,983 (GRCm38) L262P probably benign Het
Pde10a A T 17: 9,180,827 (GRCm39) I754F probably benign Het
Pdzph1 T C 17: 59,281,092 (GRCm39) R397G probably benign Het
Pgap6 T C 17: 26,341,017 (GRCm39) Y176H probably damaging Het
Polr1a T A 6: 71,953,058 (GRCm39) V567E possibly damaging Het
Pou3f2 A G 4: 22,488,076 (GRCm39) V19A probably benign Het
Pramel34 T G 5: 93,784,375 (GRCm39) Q363P probably damaging Het
Pth1r A G 9: 110,556,081 (GRCm39) I264T probably benign Het
Ptprn C A 1: 75,231,788 (GRCm39) G504C probably damaging Het
Rbak A G 5: 143,162,339 (GRCm39) L8P probably damaging Het
Rev3l T A 10: 39,700,349 (GRCm39) D1615E probably benign Het
Rhob A G 12: 8,549,232 (GRCm39) M134T probably benign Het
Slc10a4 T C 5: 73,164,840 (GRCm39) L144P probably damaging Het
Slc45a3 T C 1: 131,905,370 (GRCm39) L131P probably damaging Het
Slf1 T A 13: 77,252,743 (GRCm39) E259D probably benign Het
Slitrk5 A G 14: 111,917,621 (GRCm39) Y415C probably damaging Het
Sohlh2 A G 3: 55,115,043 (GRCm39) I343V probably benign Het
Sorl1 T C 9: 41,890,753 (GRCm39) D1922G possibly damaging Het
Spats2l T A 1: 57,979,623 (GRCm39) I243N possibly damaging Het
Specc1 A C 11: 62,008,701 (GRCm39) K152N probably damaging Het
Sv2a G A 3: 96,101,191 (GRCm39) A730T possibly damaging Het
Tars2 C A 3: 95,654,950 (GRCm39) G113C probably damaging Het
Tcstv2b A T 13: 120,373,836 (GRCm39) D151E probably benign Het
Tep1 T C 14: 51,091,739 (GRCm39) K601E probably benign Het
Trp53 A G 11: 69,480,458 (GRCm39) D278G probably damaging Het
Ttc39d G A 17: 80,524,030 (GRCm39) G230R probably damaging Het
Tubb2b T A 13: 34,312,244 (GRCm39) Y183F probably damaging Het
Ubxn7 T A 16: 32,191,287 (GRCm39) C160S possibly damaging Het
Vcp A G 4: 42,995,894 (GRCm39) probably null Het
Vmn1r201 T C 13: 22,658,995 (GRCm39) F70L probably benign Het
Vmn1r49 C T 6: 90,049,184 (GRCm39) V273I probably benign Het
Vmn2r103 A T 17: 20,014,056 (GRCm39) I283L probably benign Het
Zfp408 A G 2: 91,476,363 (GRCm39) F364L probably damaging Het
Zfyve26 A G 12: 79,334,220 (GRCm39) L266P possibly damaging Het
Other mutations in Xpr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01970:Xpr1 APN 1 155,165,980 (GRCm39) missense probably benign 0.00
IGL02657:Xpr1 APN 1 155,166,026 (GRCm39) missense probably benign 0.05
IGL03077:Xpr1 APN 1 155,156,774 (GRCm39) missense possibly damaging 0.58
R0019:Xpr1 UTSW 1 155,208,145 (GRCm39) splice site probably benign
R0350:Xpr1 UTSW 1 155,206,214 (GRCm39) missense probably damaging 1.00
R1299:Xpr1 UTSW 1 155,292,949 (GRCm39) missense probably damaging 0.99
R1855:Xpr1 UTSW 1 155,159,002 (GRCm39) missense probably benign
R2008:Xpr1 UTSW 1 155,156,775 (GRCm39) splice site probably null
R4293:Xpr1 UTSW 1 155,188,542 (GRCm39) missense possibly damaging 0.91
R4509:Xpr1 UTSW 1 155,165,907 (GRCm39) intron probably benign
R5060:Xpr1 UTSW 1 155,204,430 (GRCm39) critical splice acceptor site probably null
R5527:Xpr1 UTSW 1 155,165,981 (GRCm39) missense probably benign
R5586:Xpr1 UTSW 1 155,188,609 (GRCm39) missense probably benign
R5860:Xpr1 UTSW 1 155,207,868 (GRCm39) intron probably benign
R7565:Xpr1 UTSW 1 155,183,488 (GRCm39) missense probably benign
R7729:Xpr1 UTSW 1 155,188,618 (GRCm39) missense probably benign
R7976:Xpr1 UTSW 1 155,166,035 (GRCm39) missense possibly damaging 0.62
R7985:Xpr1 UTSW 1 155,188,641 (GRCm39) missense possibly damaging 0.56
R8330:Xpr1 UTSW 1 155,189,001 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCTTGTGTCATCTGGGGATCAG -3'
(R):5'- TGAACAGTGCACTATTTAGGAAAGC -3'

Sequencing Primer
(F):5'- CTGGGGATCAGACTTGGTATAAG -3'
(R):5'- TTAGGAAAGCTAAAACCTATGCAACG -3'
Posted On 2014-09-17