Incidental Mutation 'R4436:Vmn2r94'
ID |
377823 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r94
|
Ensembl Gene |
ENSMUSG00000090417 |
Gene Name |
vomeronasal 2, receptor 94 |
Synonyms |
EG665227 |
MMRRC Submission |
041702-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R4436 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
18461384-18498018 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18478645 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 34
(Y34C)
|
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: Y34C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000126386 Gene: ENSMUSG00000090417 AA Change: Y34C
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: Y34C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
96% (54/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Aff3 |
T |
C |
1: 38,248,768 (GRCm39) |
I779V |
possibly damaging |
Het |
Asap1 |
T |
G |
15: 64,221,692 (GRCm39) |
D15A |
probably benign |
Het |
Ascc2 |
A |
G |
11: 4,606,305 (GRCm39) |
D193G |
probably damaging |
Het |
Bcl2a1d |
A |
T |
9: 88,613,753 (GRCm39) |
M7K |
probably benign |
Het |
Ccdc168 |
T |
C |
1: 44,095,276 (GRCm39) |
I1941V |
probably benign |
Het |
Ccdc85a |
T |
C |
11: 28,526,457 (GRCm39) |
T384A |
probably benign |
Het |
Cd86 |
T |
C |
16: 36,441,194 (GRCm39) |
N91S |
probably benign |
Het |
Cdk17 |
T |
A |
10: 93,047,758 (GRCm39) |
|
probably null |
Het |
Cemip |
T |
C |
7: 83,636,637 (GRCm39) |
D332G |
probably null |
Het |
Ces2f |
G |
A |
8: 105,679,788 (GRCm39) |
R427H |
probably benign |
Het |
Clec4a2 |
G |
A |
6: 123,105,013 (GRCm39) |
|
probably null |
Het |
Coa8 |
T |
A |
12: 111,717,642 (GRCm39) |
D167E |
probably benign |
Het |
Coq9 |
T |
C |
8: 95,579,743 (GRCm39) |
F198L |
probably benign |
Het |
Ddx24 |
C |
A |
12: 103,390,233 (GRCm39) |
A253S |
probably damaging |
Het |
Esyt3 |
A |
T |
9: 99,240,078 (GRCm39) |
|
probably benign |
Het |
Fat2 |
C |
A |
11: 55,187,024 (GRCm39) |
G1274V |
probably damaging |
Het |
Ggn |
A |
T |
7: 28,870,976 (GRCm39) |
T132S |
probably damaging |
Het |
Gm11568 |
T |
A |
11: 99,749,421 (GRCm39) |
C209S |
unknown |
Het |
Gm6931 |
T |
A |
16: 49,245,225 (GRCm39) |
|
noncoding transcript |
Het |
Gpr20 |
C |
T |
15: 73,567,649 (GRCm39) |
V247I |
probably benign |
Het |
Grm8 |
A |
T |
6: 27,761,237 (GRCm39) |
V329E |
possibly damaging |
Het |
Gtf2ird2 |
T |
C |
5: 134,223,808 (GRCm39) |
L114P |
possibly damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Hivep3 |
C |
T |
4: 119,953,120 (GRCm39) |
P479S |
probably benign |
Het |
Igkv6-20 |
A |
G |
6: 70,313,104 (GRCm39) |
V23A |
probably damaging |
Het |
Ikbip |
T |
A |
10: 90,937,751 (GRCm39) |
N141K |
probably damaging |
Het |
Irag1 |
T |
C |
7: 110,476,124 (GRCm39) |
E815G |
probably damaging |
Het |
Krt77 |
A |
T |
15: 101,773,904 (GRCm39) |
V250E |
probably damaging |
Het |
Ltn1 |
A |
T |
16: 87,202,502 (GRCm39) |
C1050S |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,421,135 (GRCm39) |
I40V |
probably benign |
Het |
Or2h2b-ps1 |
A |
G |
17: 37,480,727 (GRCm39) |
F271L |
probably benign |
Het |
Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
Pi4ka |
T |
C |
16: 17,100,246 (GRCm39) |
M1885V |
probably damaging |
Het |
Plek |
A |
G |
11: 16,942,972 (GRCm39) |
Y107H |
probably damaging |
Het |
Ppp1r15a |
C |
T |
7: 45,174,203 (GRCm39) |
V202M |
probably damaging |
Het |
Ppp1r3e |
C |
A |
14: 55,114,007 (GRCm39) |
A222S |
probably benign |
Het |
Rac2 |
G |
T |
15: 78,454,943 (GRCm39) |
Y32* |
probably null |
Het |
Sdf4 |
T |
G |
4: 156,093,404 (GRCm39) |
|
probably null |
Het |
Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
Spic |
T |
A |
10: 88,512,817 (GRCm39) |
R111S |
probably benign |
Het |
Ssh3 |
A |
G |
19: 4,315,394 (GRCm39) |
F315L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,595,253 (GRCm39) |
K11972R |
probably damaging |
Het |
Tubd1 |
C |
T |
11: 86,439,745 (GRCm39) |
S30F |
probably benign |
Het |
Vmn1r17 |
G |
C |
6: 57,337,719 (GRCm39) |
I166M |
possibly damaging |
Het |
Xpo7 |
G |
A |
14: 70,906,869 (GRCm39) |
T945M |
probably damaging |
Het |
Zfp316 |
C |
A |
5: 143,239,803 (GRCm39) |
A739S |
probably damaging |
Het |
Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCTACATGGGCTGTGAGC -3'
(R):5'- GACAGAATGTGTAAAGAATCCACC -3'
Sequencing Primer
(F):5'- CTGTGAGCCAAAGAAAAGTAAACAC -3'
(R):5'- GTTCATCTATTCATGGTGAAG -3'
|
Posted On |
2016-04-11 |