Incidental Mutation 'IGL01700:Pvr'
ID 104429
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pvr
Ensembl Gene ENSMUSG00000040511
Gene Name poliovirus receptor
Synonyms CD155, D7Ertd458e, mE4, necl-5, Taa1, Tage4
Accession Numbers

Genbank: NM_027514 ; MGI: 107741
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock # IGL01700
Quality Score
Status
Chromosome 7
Chromosomal Location 19903578-19921160 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 19909232 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 359 (A359S)
Ref Sequence ENSEMBL: ENSMUSP00000039205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043517]
AlphaFold Q8K094
Predicted Effect probably benign
Transcript: ENSMUST00000043517
AA Change: A359S

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000039205
Gene: ENSMUSG00000040511
AA Change: A359S

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IG 35 142 1.58e-10 SMART
Pfam:C2-set_2 145 231 2e-18 PFAM
Pfam:C1-set 160 233 1.3e-5 PFAM
IG_like 254 334 6.75e1 SMART
transmembrane domain 348 370 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208861
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for one null allele have a reduced antibody response to oral immunization. Mice homozygous for a different null allele exhibit reduced susceptibility to chemically induced colon cancer. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(2)
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,280,390 M1778L probably benign Het
Aldh6a1 C T 12: 84,439,538 C202Y probably damaging Het
Ankrd36 A G 11: 5,632,198 T276A probably benign Het
Ankrd55 T C 13: 112,381,168 I556T probably benign Het
Aqp4 A G 18: 15,399,865 I57T probably benign Het
Atp1a1 T C 3: 101,594,258 D43G possibly damaging Het
Cyld G A 8: 88,707,099 R172H probably damaging Het
Diexf G A 1: 193,118,265 P416S probably damaging Het
Ear2 A T 14: 44,103,259 R125* probably null Het
Efcab9 T C 11: 32,527,451 R24G probably damaging Het
F7 C A 8: 13,028,685 Q39K probably benign Het
Galntl6 A T 8: 57,958,460 probably benign Het
Kcnj5 A G 9: 32,322,629 V130A probably damaging Het
Magee2 A G X: 104,855,968 I359T possibly damaging Het
Myh1 T G 11: 67,211,412 I843S probably damaging Het
Nfat5 T A 8: 107,339,130 M98K probably damaging Het
Nrip3 T A 7: 109,761,867 N200I possibly damaging Het
Olfr818 A T 10: 129,945,941 N40K probably damaging Het
Phkb A T 8: 86,017,465 Q581L probably benign Het
Plxdc2 T C 2: 16,512,115 V69A probably benign Het
Pou3f1 G T 4: 124,658,857 W384L probably damaging Het
Prrc2a G A 17: 35,150,667 S1890L possibly damaging Het
Psmc1 C A 12: 100,113,078 P27H probably damaging Het
Rasal1 A T 5: 120,676,817 I711F probably benign Het
Ror1 C T 4: 100,409,771 A223V probably damaging Het
Slc22a16 A T 10: 40,603,908 I638L unknown Het
Slfn10-ps C T 11: 83,029,112 noncoding transcript Het
Sptbn4 A G 7: 27,404,268 L1176P probably damaging Het
Usp21 A T 1: 171,283,402 F421I probably damaging Het
Vmn1r61 T A 7: 5,611,203 R37S possibly damaging Het
Vps13a G A 19: 16,744,857 R364* probably null Het
Vps29 A G 5: 122,362,867 Y165C probably damaging Het
Wdfy4 T C 14: 33,020,238 probably benign Het
Wdr24 A G 17: 25,825,828 D219G probably damaging Het
Xpo1 T C 11: 23,276,422 probably benign Het
Zfp831 C A 2: 174,644,918 T462K possibly damaging Het
Zswim5 T C 4: 116,986,461 probably benign Het
Other mutations in Pvr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Pvr APN 7 19914859 missense probably damaging 1.00
IGL02536:Pvr APN 7 19918792 missense probably benign 0.17
F2404:Pvr UTSW 7 19905177 missense probably benign 0.06
R1016:Pvr UTSW 7 19909217 missense probably benign
R1470:Pvr UTSW 7 19918624 missense possibly damaging 0.51
R1470:Pvr UTSW 7 19918624 missense possibly damaging 0.51
R1525:Pvr UTSW 7 19910626 nonsense probably null
R2138:Pvr UTSW 7 19917002 missense probably damaging 1.00
R3912:Pvr UTSW 7 19909292 missense probably benign 0.01
R6667:Pvr UTSW 7 19905802 missense probably benign 0.07
R6724:Pvr UTSW 7 19918679 missense possibly damaging 0.95
R6855:Pvr UTSW 7 19909214 missense possibly damaging 0.92
R6866:Pvr UTSW 7 19918630 missense probably benign 0.01
R7030:Pvr UTSW 7 19905180 missense possibly damaging 0.84
R7158:Pvr UTSW 7 19918637 nonsense probably null
R7352:Pvr UTSW 7 19910616 missense possibly damaging 0.81
R8853:Pvr UTSW 7 19916972 missense possibly damaging 0.89
R9084:Pvr UTSW 7 19917012 missense possibly damaging 0.73
X0025:Pvr UTSW 7 19910652 missense probably benign 0.38
Posted On 2014-01-21