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 |
necl-5, CD155, 3830421F03Rik, Tage4, mE4, Taa1, D7Ertd458e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
IGL01700
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
19637503-19655068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 19643157 bp (GRCm39)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,319,549 (GRCm39) |
M1778L |
probably benign |
Het |
| Aldh6a1 |
C |
T |
12: 84,486,312 (GRCm39) |
C202Y |
probably damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,582,198 (GRCm39) |
T276A |
probably benign |
Het |
| Ankrd55 |
T |
C |
13: 112,517,702 (GRCm39) |
I556T |
probably benign |
Het |
| Aqp4 |
A |
G |
18: 15,532,922 (GRCm39) |
I57T |
probably benign |
Het |
| Atp1a1 |
T |
C |
3: 101,501,574 (GRCm39) |
D43G |
possibly damaging |
Het |
| Cyld |
G |
A |
8: 89,433,727 (GRCm39) |
R172H |
probably damaging |
Het |
| Ear2 |
A |
T |
14: 44,340,716 (GRCm39) |
R125* |
probably null |
Het |
| Efcab9 |
T |
C |
11: 32,477,451 (GRCm39) |
R24G |
probably damaging |
Het |
| F7 |
C |
A |
8: 13,078,685 (GRCm39) |
Q39K |
probably benign |
Het |
| Galntl6 |
A |
T |
8: 58,411,494 (GRCm39) |
|
probably benign |
Het |
| Kcnj5 |
A |
G |
9: 32,233,925 (GRCm39) |
V130A |
probably damaging |
Het |
| Magee2 |
A |
G |
X: 103,899,574 (GRCm39) |
I359T |
possibly damaging |
Het |
| Myh1 |
T |
G |
11: 67,102,238 (GRCm39) |
I843S |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,065,762 (GRCm39) |
M98K |
probably damaging |
Het |
| Nrip3 |
T |
A |
7: 109,361,074 (GRCm39) |
N200I |
possibly damaging |
Het |
| Or6c219 |
A |
T |
10: 129,781,810 (GRCm39) |
N40K |
probably damaging |
Het |
| Phkb |
A |
T |
8: 86,744,094 (GRCm39) |
Q581L |
probably benign |
Het |
| Plxdc2 |
T |
C |
2: 16,516,926 (GRCm39) |
V69A |
probably benign |
Het |
| Pou3f1 |
G |
T |
4: 124,552,650 (GRCm39) |
W384L |
probably damaging |
Het |
| Prrc2a |
G |
A |
17: 35,369,643 (GRCm39) |
S1890L |
possibly damaging |
Het |
| Psmc1 |
C |
A |
12: 100,079,337 (GRCm39) |
P27H |
probably damaging |
Het |
| Rasal1 |
A |
T |
5: 120,814,882 (GRCm39) |
I711F |
probably benign |
Het |
| Ror1 |
C |
T |
4: 100,266,968 (GRCm39) |
A223V |
probably damaging |
Het |
| Slc22a16 |
A |
T |
10: 40,479,904 (GRCm39) |
I638L |
unknown |
Het |
| Slfn10-ps |
C |
T |
11: 82,919,938 (GRCm39) |
|
noncoding transcript |
Het |
| Sptbn4 |
A |
G |
7: 27,103,693 (GRCm39) |
L1176P |
probably damaging |
Het |
| Usp21 |
A |
T |
1: 171,110,975 (GRCm39) |
F421I |
probably damaging |
Het |
| Utp25 |
G |
A |
1: 192,800,573 (GRCm39) |
P416S |
probably damaging |
Het |
| Vmn1r61 |
T |
A |
7: 5,614,202 (GRCm39) |
R37S |
possibly damaging |
Het |
| Vps13a |
G |
A |
19: 16,722,221 (GRCm39) |
R364* |
probably null |
Het |
| Vps29 |
A |
G |
5: 122,500,930 (GRCm39) |
Y165C |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,742,195 (GRCm39) |
|
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,044,802 (GRCm39) |
D219G |
probably damaging |
Het |
| Xpo1 |
T |
C |
11: 23,226,422 (GRCm39) |
|
probably benign |
Het |
| Zfp831 |
C |
A |
2: 174,486,711 (GRCm39) |
T462K |
possibly damaging |
Het |
| Zswim5 |
T |
C |
4: 116,843,658 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pvr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00742:Pvr
|
APN |
7 |
19,648,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02536:Pvr
|
APN |
7 |
19,652,717 (GRCm39) |
missense |
probably benign |
0.17 |
|
F2404:Pvr
|
UTSW |
7 |
19,639,102 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation