Incidental Mutation 'R1855:Xpr1'
ID 206002
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 039879-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.865) question?
Stock # R1855 (G1)
Quality Score 216
Status Validated
Chromosome 1
Chromosomal Location 155151447-155293161 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155159002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 597 (Y597H)
Ref Sequence ENSEMBL: ENSMUSP00000107405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027741] [ENSMUST00000111774] [ENSMUST00000111775]
AlphaFold Q9Z0U0
Predicted Effect probably benign
Transcript: ENSMUST00000027741
AA Change: Y662H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027741
Gene: ENSMUSG00000026469
AA Change: Y662H

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: Y662H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107404
Gene: ENSMUSG00000026469
AA Change: Y662H

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: Y597H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107405
Gene: ENSMUSG00000026469
AA Change: Y597H

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
Meta Mutation Damage Score 0.0595 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 97% (72/74)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,818,195 (GRCm39) L285Q probably damaging Het
Acaca T C 11: 84,262,380 (GRCm39) L1994P probably damaging Het
Adamts9 A G 6: 92,878,350 (GRCm39) probably benign Het
Aff3 T C 1: 38,249,385 (GRCm39) E574G probably benign Het
Ankrd1 T C 19: 36,096,635 (GRCm39) K64R probably damaging Het
Arhgap23 T C 11: 97,339,523 (GRCm39) I163T probably damaging Het
Ascc3 A T 10: 50,494,018 (GRCm39) Q151L probably benign Het
Atad2 G A 15: 57,960,685 (GRCm39) P971L possibly damaging Het
C1s1 A C 6: 124,511,315 (GRCm39) probably null Het
Ccdc150 T C 1: 54,407,069 (GRCm39) probably benign Het
Cdhr3 A T 12: 33,110,351 (GRCm39) I311N probably damaging Het
Chad T A 11: 94,456,303 (GRCm39) L127H probably damaging Het
Clasp1 G A 1: 118,436,624 (GRCm39) A303T probably damaging Het
Clptm1 A G 7: 19,372,134 (GRCm39) V234A probably benign Het
Cnih3 C A 1: 181,282,186 (GRCm39) S140* probably null Het
Col24a1 G A 3: 145,164,895 (GRCm39) G1033D probably damaging Het
Csnk1a1 T A 18: 61,708,498 (GRCm39) probably null Het
Cttnbp2 T A 6: 18,378,412 (GRCm39) I1475L probably benign Het
Dnah5 T C 15: 28,411,815 (GRCm39) V3728A possibly damaging Het
Dock9 C A 14: 121,877,571 (GRCm39) V391F probably damaging Het
Ehmt2 A T 17: 35,129,752 (GRCm39) I949F probably damaging Het
Eif4g1 C A 16: 20,505,911 (GRCm39) T1025K possibly damaging Het
Enpp2 C T 15: 54,709,219 (GRCm39) E803K probably damaging Het
Esrrg A T 1: 187,943,295 (GRCm39) M423L probably damaging Het
Etnppl A T 3: 130,414,371 (GRCm39) I89F probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbln7 A G 2: 128,735,755 (GRCm39) T248A possibly damaging Het
Galnt9 C T 5: 110,763,390 (GRCm39) T465M probably damaging Het
Grcc10 A G 6: 124,717,541 (GRCm39) V57A probably benign Het
Herc1 T A 9: 66,298,708 (GRCm39) M614K possibly damaging Het
Itch C T 2: 155,014,374 (GRCm39) probably benign Het
Kdm6b C A 11: 69,298,112 (GRCm39) A167S probably damaging Het
Kidins220 C T 12: 25,106,590 (GRCm39) R1348C probably damaging Het
Kif17 T C 4: 138,015,582 (GRCm39) L577P probably benign Het
Krt25 A T 11: 99,209,141 (GRCm39) L258Q probably damaging Het
Marchf10 T C 11: 105,281,218 (GRCm39) T356A probably benign Het
Mical2 G A 7: 111,944,489 (GRCm39) A940T probably benign Het
Mrpl4 A G 9: 20,914,667 (GRCm39) E81G possibly damaging Het
Mtcl1 A G 17: 66,686,509 (GRCm39) V447A probably benign Het
Mtor C A 4: 148,637,546 (GRCm39) N2502K probably benign Het
Notch4 G A 17: 34,799,936 (GRCm39) D966N probably benign Het
Oip5 C A 2: 119,442,271 (GRCm39) K214N probably benign Het
Or8a1b A T 9: 37,623,266 (GRCm39) F103Y possibly damaging Het
Pabir2 T A X: 52,342,933 (GRCm39) Q201H probably benign Het
Pak5 A T 2: 135,929,429 (GRCm39) S585T probably benign Het
Pard3 T A 8: 128,174,293 (GRCm39) probably null Het
Pcnx2 A T 8: 126,534,735 (GRCm39) probably benign Het
Pcsk5 T C 19: 17,492,556 (GRCm39) Y939C possibly damaging Het
Pde1a A G 2: 79,728,408 (GRCm39) probably null Het
Pde9a C T 17: 31,674,094 (GRCm39) P60S probably damaging Het
Pikfyve C A 1: 65,297,957 (GRCm39) T1562K probably benign Het
Plekhg6 A T 6: 125,352,802 (GRCm39) M115K probably damaging Het
Pogz C T 3: 94,786,160 (GRCm39) T863I probably benign Het
Ppp1r3a A T 6: 14,754,993 (GRCm39) W85R probably damaging Het
Rnf123 C A 9: 107,938,990 (GRCm39) R826L probably damaging Het
Slc1a6 T A 10: 78,648,758 (GRCm39) V493E probably damaging Het
Slc22a2 A G 17: 12,805,699 (GRCm39) D150G probably damaging Het
Snap47 C T 11: 59,319,159 (GRCm39) probably benign Het
Spata22 A G 11: 73,231,385 (GRCm39) D213G probably benign Het
St6galnac2 T A 11: 116,581,141 (GRCm39) R60S probably benign Het
Stk32c A G 7: 138,701,363 (GRCm39) F263S probably damaging Het
Supt6 T C 11: 78,123,366 (GRCm39) I104V possibly damaging Het
Tex2 T C 11: 106,437,702 (GRCm39) E158G possibly damaging Het
Tiam2 C T 17: 3,465,410 (GRCm39) R380C probably damaging Het
Trim25 C T 11: 88,906,407 (GRCm39) T410I probably benign Het
Usp18 T A 6: 121,239,076 (GRCm39) C212S probably benign Het
Vmn1r2 A G 4: 3,172,588 (GRCm39) Y169C probably damaging Het
Wdr33 A T 18: 32,039,909 (GRCm39) probably benign Het
Yy1 CGGG CGGGGGGGGG 12: 108,759,916 (GRCm39) probably benign Het
Zfp54 T A 17: 21,654,404 (GRCm39) Y299* probably null Het
Zfp566 T G 7: 29,777,927 (GRCm39) S85R probably benign 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
R2008:Xpr1 UTSW 1 155,156,775 (GRCm39) splice site probably null
R2071:Xpr1 UTSW 1 155,166,026 (GRCm39) missense probably benign 0.05
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'- GTGTCTCATGTGCTCCTGAAG -3'
(R):5'- ACCCCATTTTGTTTAGGCGATTTG -3'

Sequencing Primer
(F):5'- TACTACAAGTCTGACCTCATGGG -3'
(R):5'- CGATTTGTGTGGAACTTCTTCC -3'
Posted On 2014-06-23