Incidental Mutation 'IGL01970:Xpr1'
ID182535
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xpr1
Ensembl Gene ENSMUSG00000026469
Gene Namexenotropic and polytropic retrovirus receptor 1
SynonymsRmc1, suppressor of yeast G deletion, Syg1, Rmc-1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.854) question?
Stock #IGL01970
Quality Score
Status
Chromosome1
Chromosomal Location155275701-155417415 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 155290234 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 524 (N524S)
Ref Sequence ENSEMBL: ENSMUSP00000107405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027741] [ENSMUST00000111774] [ENSMUST00000111775]
Predicted Effect probably benign
Transcript: ENSMUST00000027741
AA Change: N589S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027741
Gene: ENSMUSG00000026469
AA Change: N589S

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: N589S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107404
Gene: ENSMUSG00000026469
AA Change: N589S

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: N524S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000107405
Gene: ENSMUSG00000026469
AA Change: N524S

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
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdk9 T C 2: 32,708,051 H280R possibly damaging Het
Cenpt C T 8: 105,845,116 R461H probably damaging Het
Cpa4 A G 6: 30,579,646 T151A probably benign Het
Glrb A G 3: 80,861,925 I165T possibly damaging Het
Gm17305 A T 11: 69,364,820 probably benign Het
Kdm5b T A 1: 134,600,727 S391T probably damaging Het
Klrg2 T C 6: 38,636,448 K207E probably damaging Het
Krt1 T C 15: 101,846,864 I487V possibly damaging Het
Krt27 A G 11: 99,348,721 L311P probably damaging Het
Leng9 T C 7: 4,148,327 Y450C probably damaging Het
Oacyl A T 18: 65,749,714 I627F possibly damaging Het
Perm1 G T 4: 156,217,661 G221W probably damaging Het
Rft1 C T 14: 30,690,535 L518F probably benign Het
Sdk1 A T 5: 142,085,682 Q1209L possibly damaging Het
Selenbp1 A G 3: 94,937,002 S57G probably benign Het
Sema5a T C 15: 32,686,646 M968T probably benign Het
Slc16a3 G A 11: 120,957,038 V351M probably damaging Het
Sorbs2 G A 8: 45,745,803 V73I probably damaging Het
Specc1l T A 10: 75,245,761 D347E probably damaging Het
Tas2r116 A C 6: 132,855,669 T78P probably benign Het
Tpm3 A G 3: 90,089,828 E224G probably damaging Het
Trnau1ap T C 4: 132,313,987 probably benign Het
Vmn2r17 T A 5: 109,427,947 M228K probably damaging Het
Vnn1 T C 10: 23,897,402 I109T probably benign Het
Wee1 C A 7: 110,139,250 H523Q probably damaging Het
Other mutations in Xpr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02657:Xpr1 APN 1 155290280 missense probably benign 0.05
IGL03077:Xpr1 APN 1 155281028 missense possibly damaging 0.58
R0019:Xpr1 UTSW 1 155332399 splice site probably benign
R0350:Xpr1 UTSW 1 155330468 missense probably damaging 1.00
R1299:Xpr1 UTSW 1 155417203 missense probably damaging 0.99
R1855:Xpr1 UTSW 1 155283256 missense probably benign
R2008:Xpr1 UTSW 1 155281029 unclassified probably null
R2071:Xpr1 UTSW 1 155290280 missense probably benign 0.05
R4293:Xpr1 UTSW 1 155312796 missense possibly damaging 0.91
R4509:Xpr1 UTSW 1 155290161 intron probably benign
R5060:Xpr1 UTSW 1 155328684 critical splice acceptor site probably null
R5527:Xpr1 UTSW 1 155290235 missense probably benign
R5586:Xpr1 UTSW 1 155312863 missense probably benign
R5860:Xpr1 UTSW 1 155332122 intron probably benign
R7565:Xpr1 UTSW 1 155307742 missense probably benign
Posted On2014-05-07