Incidental Mutation 'IGL02113:Vmn2r94'
ID |
280230 |
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 # |
IGL02113
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
18461384-18498018 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 18477937 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 158
(T158K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156288
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172190]
[ENSMUST00000231457]
[ENSMUST00000231815]
|
AlphaFold |
E9PZK8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172190
AA Change: T158K
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126386 Gene: ENSMUSG00000090417 AA Change: T158K
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 damaging
Transcript: ENSMUST00000231815
AA Change: T158K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
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 |
Abca4 |
A |
T |
3: 121,904,127 (GRCm39) |
H726L |
possibly damaging |
Het |
Aqr |
A |
T |
2: 113,950,508 (GRCm39) |
Y900* |
probably null |
Het |
Atp11a |
G |
T |
8: 12,915,048 (GRCm39) |
R1155S |
probably benign |
Het |
Bahd1 |
A |
G |
2: 118,747,686 (GRCm39) |
D435G |
probably benign |
Het |
Brca2 |
A |
G |
5: 150,464,444 (GRCm39) |
T1403A |
possibly damaging |
Het |
Cc2d2a |
T |
A |
5: 43,842,590 (GRCm39) |
|
probably null |
Het |
Cog7 |
A |
G |
7: 121,524,703 (GRCm39) |
I697T |
probably damaging |
Het |
Dclre1a |
A |
G |
19: 56,529,964 (GRCm39) |
V791A |
probably damaging |
Het |
Dgki |
A |
G |
6: 36,890,560 (GRCm39) |
|
probably benign |
Het |
Dpyd |
A |
G |
3: 118,792,868 (GRCm39) |
Y525C |
probably benign |
Het |
Eepd1 |
T |
C |
9: 25,394,009 (GRCm39) |
L91P |
probably damaging |
Het |
Foxf1 |
T |
A |
8: 121,811,304 (GRCm39) |
L56H |
probably damaging |
Het |
Fry |
A |
T |
5: 150,323,070 (GRCm39) |
M1074L |
probably benign |
Het |
Gbx1 |
T |
C |
5: 24,709,874 (GRCm39) |
T324A |
probably damaging |
Het |
Gfpt1 |
T |
A |
6: 87,064,349 (GRCm39) |
N646K |
probably benign |
Het |
Gm10258 |
C |
T |
3: 30,322,542 (GRCm39) |
|
probably benign |
Het |
Gm12887 |
T |
C |
4: 121,473,692 (GRCm39) |
M53V |
probably benign |
Het |
Hoxa11 |
C |
T |
6: 52,222,297 (GRCm39) |
G135S |
probably damaging |
Het |
Mettl6 |
A |
T |
14: 31,204,788 (GRCm39) |
Y211* |
probably null |
Het |
Moxd2 |
T |
C |
6: 40,862,338 (GRCm39) |
I160M |
probably benign |
Het |
Mphosph10 |
G |
A |
7: 64,026,555 (GRCm39) |
|
probably benign |
Het |
Mrpl19 |
T |
A |
6: 81,942,896 (GRCm39) |
M5L |
probably benign |
Het |
Nbea |
A |
G |
3: 55,899,913 (GRCm39) |
V1412A |
probably benign |
Het |
Nceh1 |
G |
T |
3: 27,277,040 (GRCm39) |
S121I |
probably damaging |
Het |
Ntan1 |
A |
G |
16: 13,653,008 (GRCm39) |
T217A |
probably damaging |
Het |
Ogfod1 |
C |
T |
8: 94,790,841 (GRCm39) |
A504V |
probably damaging |
Het |
Or52r1c |
A |
T |
7: 102,735,057 (GRCm39) |
I111L |
possibly damaging |
Het |
Pde3b |
G |
A |
7: 114,126,141 (GRCm39) |
V792M |
probably damaging |
Het |
Pde9a |
A |
T |
17: 31,678,944 (GRCm39) |
M262L |
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,191,279 (GRCm39) |
V206A |
probably benign |
Het |
Pkp1 |
A |
T |
1: 135,811,652 (GRCm39) |
N406K |
possibly damaging |
Het |
Rcn3 |
A |
G |
7: 44,732,762 (GRCm39) |
I302T |
probably damaging |
Het |
Rfx6 |
A |
G |
10: 51,554,108 (GRCm39) |
Q68R |
probably benign |
Het |
Rpgrip1 |
A |
G |
14: 52,371,301 (GRCm39) |
D340G |
possibly damaging |
Het |
Scn10a |
C |
T |
9: 119,438,956 (GRCm39) |
G1638S |
probably damaging |
Het |
Serpinb9f |
A |
T |
13: 33,518,451 (GRCm39) |
H317L |
probably damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Slc40a1 |
A |
G |
1: 45,950,054 (GRCm39) |
I466T |
probably benign |
Het |
Smyd2 |
A |
T |
1: 189,614,414 (GRCm39) |
S371R |
probably damaging |
Het |
Snap47 |
A |
C |
11: 59,319,262 (GRCm39) |
I292S |
probably damaging |
Het |
Tbx4 |
A |
G |
11: 85,803,090 (GRCm39) |
E322G |
possibly damaging |
Het |
Tg |
A |
G |
15: 66,577,179 (GRCm39) |
T1501A |
probably benign |
Het |
Tmem259 |
A |
G |
10: 79,814,543 (GRCm39) |
V300A |
probably benign |
Het |
Usp7 |
A |
G |
16: 8,534,377 (GRCm39) |
|
probably null |
Het |
Vmn2r95 |
G |
T |
17: 18,660,169 (GRCm39) |
A194S |
possibly damaging |
Het |
Zfp944 |
A |
T |
17: 22,558,047 (GRCm39) |
I400N |
possibly damaging |
Het |
Zmynd12 |
T |
A |
4: 119,291,194 (GRCm39) |
I53K |
probably damaging |
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 |
IGL02408:Vmn2r94
|
APN |
17 |
18,473,523 (GRCm39) |
missense |
probably benign |
0.01 |
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 |