Incidental Mutation 'IGL02408:Vmn2r94'
ID |
292168 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vmn2r94
|
Ensembl Gene |
ENSMUSG00000090417 |
Gene Name |
vomeronasal 2, receptor 94 |
Synonyms |
EG665227 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
IGL02408
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
18461384-18498018 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18473523 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 501
(E501G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126386
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172190]
[ENSMUST00000231457]
[ENSMUST00000231815]
|
AlphaFold |
E9PZK8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000172190
AA Change: E501G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000126386 Gene: ENSMUSG00000090417 AA Change: E501G
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
42 |
425 |
1.7e-35 |
PFAM |
Pfam:NCD3G
|
469 |
522 |
3.5e-21 |
PFAM |
Pfam:7tm_3
|
553 |
790 |
1.7e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231457
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231815
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,621,130 (GRCm39) |
Y278C |
probably damaging |
Het |
Abcd2 |
A |
G |
15: 91,062,444 (GRCm39) |
L498P |
possibly damaging |
Het |
Acot11 |
A |
G |
4: 106,615,578 (GRCm39) |
F271S |
probably damaging |
Het |
Acr |
T |
A |
15: 89,454,217 (GRCm39) |
Y185N |
probably damaging |
Het |
Adcy10 |
C |
T |
1: 165,365,949 (GRCm39) |
R489C |
probably damaging |
Het |
Arsb |
A |
G |
13: 93,930,670 (GRCm39) |
T213A |
probably benign |
Het |
Atg2a |
T |
A |
19: 6,291,858 (GRCm39) |
C11* |
probably null |
Het |
B3galt6 |
A |
T |
4: 156,076,152 (GRCm39) |
Y308N |
probably damaging |
Het |
Cd226 |
A |
G |
18: 89,225,451 (GRCm39) |
N116S |
probably benign |
Het |
Crat |
T |
A |
2: 30,297,146 (GRCm39) |
D269V |
probably damaging |
Het |
Crim1 |
T |
A |
17: 78,623,083 (GRCm39) |
I427N |
possibly damaging |
Het |
Dock3 |
T |
C |
9: 106,790,298 (GRCm39) |
|
probably benign |
Het |
Dsg1c |
T |
A |
18: 20,407,776 (GRCm39) |
V374E |
probably damaging |
Het |
Dtl |
A |
G |
1: 191,273,352 (GRCm39) |
S519P |
probably benign |
Het |
Fastkd1 |
C |
T |
2: 69,532,945 (GRCm39) |
R474H |
probably benign |
Het |
Fbxo10 |
T |
C |
4: 45,058,361 (GRCm39) |
T459A |
possibly damaging |
Het |
Frmd4b |
A |
G |
6: 97,272,770 (GRCm39) |
L828P |
probably damaging |
Het |
Gc |
T |
C |
5: 89,593,255 (GRCm39) |
S55G |
probably benign |
Het |
Gm6455 |
T |
G |
5: 10,917,257 (GRCm39) |
|
noncoding transcript |
Het |
Gnai2 |
T |
C |
9: 107,493,393 (GRCm39) |
T280A |
probably benign |
Het |
Hmgn2 |
A |
G |
4: 133,693,260 (GRCm39) |
|
probably null |
Het |
Jmjd1c |
G |
T |
10: 67,062,161 (GRCm39) |
A1505S |
probably benign |
Het |
Lrriq1 |
T |
C |
10: 102,982,142 (GRCm39) |
K1393E |
probably benign |
Het |
Mcam |
A |
G |
9: 44,051,547 (GRCm39) |
N469D |
probably benign |
Het |
Mrpl47 |
A |
G |
3: 32,790,789 (GRCm39) |
|
probably null |
Het |
Mslnl |
C |
T |
17: 25,966,972 (GRCm39) |
A659V |
possibly damaging |
Het |
Nlrp1a |
A |
G |
11: 71,013,456 (GRCm39) |
V598A |
probably benign |
Het |
Npff |
A |
T |
15: 102,433,000 (GRCm39) |
L15Q |
probably null |
Het |
Obsl1 |
G |
T |
1: 75,481,890 (GRCm39) |
Q327K |
probably damaging |
Het |
Or13a18 |
T |
C |
7: 140,190,844 (GRCm39) |
V255A |
probably damaging |
Het |
Or4c58 |
T |
A |
2: 89,675,315 (GRCm39) |
M1L |
probably benign |
Het |
Or52s1b |
T |
C |
7: 102,822,658 (GRCm39) |
Y62C |
probably damaging |
Het |
Or7e165 |
A |
T |
9: 19,694,711 (GRCm39) |
Y94F |
probably benign |
Het |
Or8b50 |
G |
A |
9: 38,518,417 (GRCm39) |
G219S |
possibly damaging |
Het |
Pdzd2 |
T |
A |
15: 12,375,851 (GRCm39) |
H1428L |
probably benign |
Het |
Phldb1 |
T |
C |
9: 44,627,203 (GRCm39) |
E414G |
possibly damaging |
Het |
Reln |
T |
C |
5: 22,106,617 (GRCm39) |
D3251G |
probably benign |
Het |
Secisbp2l |
G |
T |
2: 125,582,789 (GRCm39) |
S889* |
probably null |
Het |
Setx |
T |
A |
2: 29,023,942 (GRCm39) |
C133S |
probably damaging |
Het |
Slc22a29 |
A |
C |
19: 8,184,649 (GRCm39) |
S214A |
probably benign |
Het |
Slc30a5 |
A |
C |
13: 100,950,232 (GRCm39) |
L285R |
probably damaging |
Het |
Taar7a |
T |
G |
10: 23,868,500 (GRCm39) |
I294L |
probably benign |
Het |
Tfap2b |
T |
A |
1: 19,304,485 (GRCm39) |
F414I |
probably damaging |
Het |
Trpc4ap |
A |
T |
2: 155,512,989 (GRCm39) |
Y129N |
possibly damaging |
Het |
Xpot |
T |
C |
10: 121,439,070 (GRCm39) |
H709R |
probably damaging |
Het |
Zfhx3 |
T |
A |
8: 109,682,004 (GRCm39) |
|
probably benign |
Het |
Zscan22 |
T |
G |
7: 12,640,426 (GRCm39) |
H223Q |
probably benign |
Het |
|
Other mutations in Vmn2r94 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01396:Vmn2r94
|
APN |
17 |
18,477,301 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01676:Vmn2r94
|
APN |
17 |
18,477,272 (GRCm39) |
missense |
probably benign |
|
IGL01687:Vmn2r94
|
APN |
17 |
18,473,574 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02113:Vmn2r94
|
APN |
17 |
18,477,937 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02451:Vmn2r94
|
APN |
17 |
18,478,453 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02755:Vmn2r94
|
APN |
17 |
18,464,761 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02822:Vmn2r94
|
APN |
17 |
18,463,882 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02868:Vmn2r94
|
APN |
17 |
18,464,316 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL03008:Vmn2r94
|
APN |
17 |
18,477,908 (GRCm39) |
missense |
probably benign |
0.05 |
R0112:Vmn2r94
|
UTSW |
17 |
18,463,866 (GRCm39) |
missense |
probably benign |
|
R0371:Vmn2r94
|
UTSW |
17 |
18,477,556 (GRCm39) |
missense |
probably benign |
0.11 |
R0413:Vmn2r94
|
UTSW |
17 |
18,464,080 (GRCm39) |
missense |
probably damaging |
0.98 |
R0627:Vmn2r94
|
UTSW |
17 |
18,477,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R0737:Vmn2r94
|
UTSW |
17 |
18,497,695 (GRCm39) |
nonsense |
probably null |
|
R0815:Vmn2r94
|
UTSW |
17 |
18,477,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R0863:Vmn2r94
|
UTSW |
17 |
18,477,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R1125:Vmn2r94
|
UTSW |
17 |
18,477,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R1276:Vmn2r94
|
UTSW |
17 |
18,477,344 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1491:Vmn2r94
|
UTSW |
17 |
18,477,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R1500:Vmn2r94
|
UTSW |
17 |
18,477,242 (GRCm39) |
missense |
probably benign |
0.07 |
R1610:Vmn2r94
|
UTSW |
17 |
18,463,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R1664:Vmn2r94
|
UTSW |
17 |
18,464,406 (GRCm39) |
missense |
probably damaging |
0.99 |
R1716:Vmn2r94
|
UTSW |
17 |
18,477,635 (GRCm39) |
missense |
probably benign |
0.01 |
R1843:Vmn2r94
|
UTSW |
17 |
18,464,732 (GRCm39) |
missense |
probably benign |
0.01 |
R1882:Vmn2r94
|
UTSW |
17 |
18,464,476 (GRCm39) |
missense |
probably benign |
0.07 |
R1936:Vmn2r94
|
UTSW |
17 |
18,464,554 (GRCm39) |
nonsense |
probably null |
|
R2273:Vmn2r94
|
UTSW |
17 |
18,477,593 (GRCm39) |
missense |
probably benign |
0.00 |
R2508:Vmn2r94
|
UTSW |
17 |
18,477,736 (GRCm39) |
missense |
probably benign |
0.32 |
R3436:Vmn2r94
|
UTSW |
17 |
18,478,650 (GRCm39) |
splice site |
probably benign |
|
R3917:Vmn2r94
|
UTSW |
17 |
18,464,620 (GRCm39) |
missense |
probably benign |
|
R3968:Vmn2r94
|
UTSW |
17 |
18,478,647 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3969:Vmn2r94
|
UTSW |
17 |
18,478,647 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4257:Vmn2r94
|
UTSW |
17 |
18,464,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R4271:Vmn2r94
|
UTSW |
17 |
18,463,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R4349:Vmn2r94
|
UTSW |
17 |
18,464,605 (GRCm39) |
missense |
probably benign |
0.01 |
R4436:Vmn2r94
|
UTSW |
17 |
18,478,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R4603:Vmn2r94
|
UTSW |
17 |
18,477,647 (GRCm39) |
missense |
probably benign |
0.33 |
R4821:Vmn2r94
|
UTSW |
17 |
18,477,293 (GRCm39) |
missense |
probably benign |
0.02 |
R5288:Vmn2r94
|
UTSW |
17 |
18,464,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R5725:Vmn2r94
|
UTSW |
17 |
18,476,489 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5735:Vmn2r94
|
UTSW |
17 |
18,464,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R6066:Vmn2r94
|
UTSW |
17 |
18,477,695 (GRCm39) |
missense |
probably damaging |
0.99 |
R6124:Vmn2r94
|
UTSW |
17 |
18,464,321 (GRCm39) |
missense |
probably benign |
0.01 |
R6189:Vmn2r94
|
UTSW |
17 |
18,477,996 (GRCm39) |
missense |
probably benign |
0.25 |
R6245:Vmn2r94
|
UTSW |
17 |
18,478,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R6574:Vmn2r94
|
UTSW |
17 |
18,476,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R7236:Vmn2r94
|
UTSW |
17 |
18,477,811 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7317:Vmn2r94
|
UTSW |
17 |
18,463,882 (GRCm39) |
missense |
probably benign |
0.00 |
R7398:Vmn2r94
|
UTSW |
17 |
18,477,603 (GRCm39) |
missense |
probably benign |
0.00 |
R7399:Vmn2r94
|
UTSW |
17 |
18,464,765 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7478:Vmn2r94
|
UTSW |
17 |
18,477,767 (GRCm39) |
missense |
probably benign |
|
R8099:Vmn2r94
|
UTSW |
17 |
18,477,659 (GRCm39) |
missense |
probably benign |
0.00 |
R8189:Vmn2r94
|
UTSW |
17 |
18,478,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R8217:Vmn2r94
|
UTSW |
17 |
18,463,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R8303:Vmn2r94
|
UTSW |
17 |
18,464,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R8543:Vmn2r94
|
UTSW |
17 |
18,463,984 (GRCm39) |
missense |
possibly damaging |
0.45 |
R8684:Vmn2r94
|
UTSW |
17 |
18,497,912 (GRCm39) |
start gained |
probably benign |
|
R8889:Vmn2r94
|
UTSW |
17 |
18,464,335 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8892:Vmn2r94
|
UTSW |
17 |
18,464,335 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9282:Vmn2r94
|
UTSW |
17 |
18,497,751 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9526:Vmn2r94
|
UTSW |
17 |
18,477,261 (GRCm39) |
missense |
probably benign |
|
R9647:Vmn2r94
|
UTSW |
17 |
18,463,884 (GRCm39) |
missense |
probably benign |
0.00 |
R9748:Vmn2r94
|
UTSW |
17 |
18,463,989 (GRCm39) |
missense |
probably benign |
0.21 |
R9789:Vmn2r94
|
UTSW |
17 |
18,464,038 (GRCm39) |
missense |
probably damaging |
1.00 |
RF014:Vmn2r94
|
UTSW |
17 |
18,473,549 (GRCm39) |
nonsense |
probably null |
|
X0011:Vmn2r94
|
UTSW |
17 |
18,464,710 (GRCm39) |
missense |
possibly damaging |
0.76 |
X0028:Vmn2r94
|
UTSW |
17 |
18,464,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |