Incidental Mutation 'IGL03077:Xpr1'
ID417711
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: 0.811) question?
Stock #IGL03077
Quality Score
Status
Chromosome1
Chromosomal Location155275701-155417415 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 155281028 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 625 (D625E)
Ref Sequence ENSEMBL: ENSMUSP00000107405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027741] [ENSMUST00000111774] [ENSMUST00000111775]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027741
AA Change: D690E

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027741
Gene: ENSMUSG00000026469
AA Change: D690E

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
SMART Domains Protein: ENSMUSP00000107404
Gene: ENSMUSG00000026469

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 possibly damaging
Transcript: ENSMUST00000111775
AA Change: D625E

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107405
Gene: ENSMUSG00000026469
AA Change: D625E

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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G A 15: 8,212,795 probably benign Het
Abcg8 A G 17: 84,691,880 N135D probably damaging Het
Ak4 T C 4: 101,419,951 L44P probably damaging Het
Angpt1 C A 15: 42,476,422 G298* probably null Het
Appl2 C T 10: 83,621,759 probably benign Het
Arhgap19 T A 19: 41,781,321 H341L probably benign Het
Chmp5 T C 4: 40,952,438 S98P probably benign Het
Chp1 A T 2: 119,584,600 Q161L probably benign Het
Clgn T C 8: 83,424,140 V478A probably benign Het
Cyp2b19 A T 7: 26,762,384 M210L probably benign Het
Eif4g3 T A 4: 138,125,855 V244D probably damaging Het
Ftcd T C 10: 76,581,627 I300T probably damaging Het
Gm12886 C T 4: 121,415,500 probably benign Het
Klrb1f A T 6: 129,053,802 E92V probably null Het
Krt23 A G 11: 99,483,874 probably benign Het
Mib2 T G 4: 155,659,443 R47S probably benign Het
Mindy4 A G 6: 55,309,330 T728A probably damaging Het
Myh15 A G 16: 49,096,538 N407S probably benign Het
Nlrp4f A G 13: 65,194,598 V411A probably benign Het
Olfr1118 T C 2: 87,309,712 *328Q probably null Het
Olfr1255 A C 2: 89,817,142 D266A probably damaging Het
Otud4 T G 8: 79,673,458 S934A probably damaging Het
P3h1 C T 4: 119,236,786 R213W probably damaging Het
Phrf1 A T 7: 141,254,968 K19* probably null Het
Prl3b1 A T 13: 27,245,776 M66L probably benign Het
Psmd7 T C 8: 107,582,467 T149A probably benign Het
Samd4b T C 7: 28,406,443 D450G probably damaging Het
Scn3a G A 2: 65,536,672 A2V probably damaging Het
Snrpa G A 7: 27,191,761 T95I probably benign Het
Traip A G 9: 107,962,926 probably benign Het
Trbc1 T A 6: 41,538,449 probably benign Het
Trim72 A T 7: 128,007,841 M181L probably benign Het
Ttc41 T C 10: 86,758,348 Y882H probably damaging Het
Vmn1r191 A C 13: 22,179,146 I146S probably benign Het
Vmn2r9 G T 5: 108,848,307 probably benign Het
Vps13a A G 19: 16,710,882 S854P probably benign Het
Wdfy1 T C 1: 79,714,905 K232E possibly damaging Het
Zbbx T A 3: 75,081,846 T317S possibly damaging Het
Other mutations in Xpr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01970:Xpr1 APN 1 155290234 missense probably benign 0.00
IGL02657:Xpr1 APN 1 155290280 missense probably benign 0.05
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
Posted On2016-08-02