Incidental Mutation 'R1016:Pvr'
| ID |
96305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pvr
|
| Ensembl Gene |
ENSMUSG00000040511 |
| Gene Name |
poliovirus receptor |
| Synonyms |
necl-5, CD155, 3830421F03Rik, Tage4, mE4, Taa1, D7Ertd458e |
| MMRRC Submission |
039120-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R1016 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
19637503-19655068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19643142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 364
(I364V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043517]
|
| AlphaFold |
Q8K094 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043517
AA Change: I364V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039205
Gene: ENSMUSG00000040511
AA Change: I364V
| 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 |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.6%
- 20x: 84.3%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ceacam20 |
T |
A |
7: 19,710,227 (GRCm39) |
H6Q |
probably null |
Het |
| Clstn1 |
T |
C |
4: 149,731,286 (GRCm39) |
I866T |
probably benign |
Het |
| Cntnap1 |
T |
C |
11: 101,068,333 (GRCm39) |
V86A |
probably damaging |
Het |
| Crtc1 |
A |
T |
8: 70,844,769 (GRCm39) |
Y351* |
probably null |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cyp2j12 |
C |
T |
4: 96,001,102 (GRCm39) |
|
probably null |
Het |
| Dmrt2 |
A |
T |
19: 25,652,938 (GRCm39) |
K183N |
probably damaging |
Het |
| Fancl |
G |
T |
11: 26,337,195 (GRCm39) |
|
probably benign |
Het |
| Fbxo40 |
G |
A |
16: 36,789,539 (GRCm39) |
Q524* |
probably null |
Het |
| Flcn |
T |
C |
11: 59,686,691 (GRCm39) |
|
probably null |
Het |
| Gm19965 |
T |
A |
1: 116,749,031 (GRCm39) |
C237* |
probably null |
Het |
| Hpf1 |
A |
G |
8: 61,348,678 (GRCm39) |
Y131C |
possibly damaging |
Het |
| Mdh1 |
A |
G |
11: 21,509,769 (GRCm39) |
L202P |
probably benign |
Het |
| Mpl |
T |
C |
4: 118,306,110 (GRCm39) |
Y310C |
probably damaging |
Het |
| Mtus1 |
A |
G |
8: 41,503,063 (GRCm39) |
V784A |
probably benign |
Het |
| Myg1 |
T |
C |
15: 102,242,786 (GRCm39) |
I159T |
possibly damaging |
Het |
| Nans |
T |
C |
4: 46,500,716 (GRCm39) |
Y203H |
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,402,295 (GRCm39) |
C709Y |
probably damaging |
Het |
| Or8b36 |
T |
C |
9: 37,937,987 (GRCm39) |
V295A |
probably damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,660 (GRCm39) |
Y192C |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,187,832 (GRCm39) |
N118D |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,330,442 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,378,135 (GRCm39) |
T454A |
possibly damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,000,973 (GRCm39) |
L1021P |
probably damaging |
Het |
| Serpina5 |
A |
G |
12: 104,071,582 (GRCm39) |
I396M |
probably damaging |
Het |
| Sgcb |
A |
C |
5: 73,797,183 (GRCm39) |
H192Q |
probably benign |
Het |
| Slc4a9 |
C |
A |
18: 36,664,478 (GRCm39) |
H379N |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,715,729 (GRCm39) |
D22G |
probably benign |
Het |
| Trim34a |
T |
C |
7: 103,897,167 (GRCm39) |
V77A |
probably benign |
Het |
| Ttc7b |
T |
C |
12: 100,369,617 (GRCm39) |
E384G |
probably null |
Het |
| Vmn2r16 |
G |
A |
5: 109,487,754 (GRCm39) |
G209D |
probably damaging |
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 |
|
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 |
|
F2404:Pvr
|
UTSW |
7 |
19,639,102 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACTCCCTGGCTGTACCGTG -3'
(R):5'- AGGGATGCACACCTCTCGACAC -3'
Sequencing Primer
(F):5'- GGCTGTACCGTGGATGC -3'
(R):5'- gggagacagacagggagg -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation