Incidental Mutation 'F2404:Pvr'
ID 178
Institutional Source Beutler Lab
Gene Symbol Pvr
Ensembl Gene ENSMUSG00000040511
Gene Name poliovirus receptor
Synonyms necl-5, CD155, 3830421F03Rik, Tage4, mE4, Taa1, D7Ertd458e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # F2404 of strain feckless
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 19637503-19655068 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19639102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 393 (S393T)
Ref Sequence ENSEMBL: ENSMUSP00000039205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043517]
AlphaFold Q8K094
Predicted Effect probably benign
Transcript: ENSMUST00000043517
AA Change: S393T

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000039205
Gene: ENSMUSG00000040511
AA Change: S393T

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 87.2%
  • 3x: 68.2%
Validation Efficiency 89% (81/91)
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: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T G 3: 40,888,313 (GRCm39) C386G probably damaging Het
AC091683.1 G A 13: 50,054,528 (GRCm39) noncoding transcript Het
Adgrv1 G A 13: 81,568,125 (GRCm39) T5016M probably benign Het
Epha3 A G 16: 63,366,531 (GRCm39) L972P probably benign Het
Gpm6a G A 8: 55,511,917 (GRCm39) D264N probably damaging Het
H1f7 T A 15: 98,155,090 (GRCm39) I20F possibly damaging Het
Rsbn1 T A 3: 103,821,892 (GRCm39) C3* probably null Het
Thoc2l T A 5: 104,668,096 (GRCm39) W873R possibly damaging Homo
Other mutations in Pvr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Pvr APN 7 19,648,784 (GRCm39) missense probably damaging 1.00
IGL01700:Pvr APN 7 19,643,157 (GRCm39) missense probably benign 0.11
IGL02536:Pvr APN 7 19,652,717 (GRCm39) missense probably benign 0.17
R1016:Pvr UTSW 7 19,643,142 (GRCm39) missense probably benign
R1470:Pvr UTSW 7 19,652,549 (GRCm39) missense possibly damaging 0.51
R1470:Pvr UTSW 7 19,652,549 (GRCm39) missense possibly damaging 0.51
R1525:Pvr UTSW 7 19,644,551 (GRCm39) nonsense probably null
R2138:Pvr UTSW 7 19,650,927 (GRCm39) missense probably damaging 1.00
R3912:Pvr UTSW 7 19,643,217 (GRCm39) missense probably benign 0.01
R6667:Pvr UTSW 7 19,639,727 (GRCm39) missense probably benign 0.07
R6724:Pvr UTSW 7 19,652,604 (GRCm39) missense possibly damaging 0.95
R6855:Pvr UTSW 7 19,643,139 (GRCm39) missense possibly damaging 0.92
R6866:Pvr UTSW 7 19,652,555 (GRCm39) missense probably benign 0.01
R7030:Pvr UTSW 7 19,639,105 (GRCm39) missense possibly damaging 0.84
R7158:Pvr UTSW 7 19,652,562 (GRCm39) nonsense probably null
R7352:Pvr UTSW 7 19,644,541 (GRCm39) missense possibly damaging 0.81
R8853:Pvr UTSW 7 19,650,897 (GRCm39) missense possibly damaging 0.89
R9084:Pvr UTSW 7 19,650,937 (GRCm39) missense possibly damaging 0.73
R9720:Pvr UTSW 7 19,643,121 (GRCm39) nonsense probably null
X0025:Pvr UTSW 7 19,644,577 (GRCm39) missense probably benign 0.38
Nature of Mutation
DNA sequencing using the SOLiD technique identified a T to A transversion at position 1289 of the Pvr transcript.  The mutated nucleotide causes a serine to threonine substitution at amino acid 393 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Pvr gene encodes a 408 single-pass type I membrane protein. The extracellular region of PVR contains three immunoglobin (Ig) and Ig-like domains. The transmembrane domain occurs at amino acids 348-370 (SMART). The PVR protein may be involved in the establishment of intercellular adherens junctions between epithelial cells. 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.  
 
The S393T change is located in the cytoplasmic domain, and is predicted to be benign by the PolyPhen program.
Posted On 2010-04-16