Incidental Mutation 'R8099:Vmn2r94'
| ID |
630426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r94
|
| Ensembl Gene |
ENSMUSG00000090417 |
| Gene Name |
vomeronasal 2, receptor 94 |
| Synonyms |
EG665227 |
| MMRRC Submission |
067531-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R8099 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
18461384-18498018 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18477659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 251
(I251V)
|
| 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: I251V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126386
Gene: ENSMUSG00000090417
AA Change: I251V
| 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
AA Change: I251V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.1%
|
| Validation Efficiency |
97% (60/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
T |
C |
14: 70,394,969 (GRCm39) |
R62G |
probably benign |
Het |
| Abcb9 |
A |
G |
5: 124,215,308 (GRCm39) |
F478L |
probably benign |
Het |
| Abcc9 |
A |
T |
6: 142,621,257 (GRCm39) |
N494K |
probably damaging |
Het |
| Atp11a |
T |
G |
8: 12,911,973 (GRCm39) |
M124R |
|
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Ccdc110 |
T |
A |
8: 46,395,130 (GRCm39) |
H340Q |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,915,801 (GRCm39) |
L724P |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,539,489 (GRCm39) |
N938S |
unknown |
Het |
| Chil3 |
T |
G |
3: 106,055,984 (GRCm39) |
D363A |
probably damaging |
Het |
| Ciart |
G |
A |
3: 95,788,656 (GRCm39) |
P61L |
probably damaging |
Het |
| Cpne3 |
A |
G |
4: 19,525,169 (GRCm39) |
V442A |
possibly damaging |
Het |
| Ctsh |
T |
C |
9: 89,946,300 (GRCm39) |
V130A |
probably damaging |
Het |
| Cyp3a44 |
T |
C |
5: 145,725,212 (GRCm39) |
K330E |
probably benign |
Het |
| Dgcr2 |
A |
T |
16: 17,667,633 (GRCm39) |
D275E |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,024,321 (GRCm39) |
D919E |
probably benign |
Het |
| Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
| Entrep3 |
T |
C |
3: 89,091,250 (GRCm39) |
F74L |
probably damaging |
Het |
| Epb41l3 |
T |
A |
17: 69,554,683 (GRCm39) |
F261Y |
possibly damaging |
Het |
| Fbxo3 |
A |
C |
2: 103,885,280 (GRCm39) |
H383P |
probably damaging |
Het |
| Foxp1 |
C |
T |
6: 98,922,510 (GRCm39) |
V441M |
unknown |
Het |
| Gm29106 |
C |
T |
1: 118,126,521 (GRCm39) |
S71F |
probably benign |
Het |
| Golga3 |
T |
A |
5: 110,336,573 (GRCm39) |
L364* |
probably null |
Het |
| H1f1 |
C |
T |
13: 23,947,832 (GRCm39) |
L45F |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,279,422 (GRCm39) |
L110H |
probably damaging |
Het |
| Igkv4-53 |
A |
T |
6: 69,625,898 (GRCm39) |
S90T |
possibly damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,571 (GRCm39) |
G162W |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,667,120 (GRCm39) |
I763N |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,369,922 (GRCm39) |
I1613K |
probably benign |
Het |
| Mkrn1 |
T |
C |
6: 39,387,031 (GRCm39) |
D102G |
probably benign |
Het |
| Muc2 |
T |
A |
7: 141,299,175 (GRCm39) |
|
probably null |
Het |
| Nipal4 |
T |
C |
11: 46,052,848 (GRCm39) |
E39G |
probably benign |
Het |
| Nr1h2 |
T |
C |
7: 44,199,746 (GRCm39) |
Y391C |
possibly damaging |
Het |
| Odam |
T |
C |
5: 88,040,299 (GRCm39) |
I255T |
possibly damaging |
Het |
| Or11m3 |
A |
G |
15: 98,395,694 (GRCm39) |
M114V |
probably benign |
Het |
| Or6c35 |
T |
A |
10: 129,168,996 (GRCm39) |
I82K |
probably damaging |
Het |
| Or9m1 |
T |
A |
2: 87,733,852 (GRCm39) |
H56L |
probably damaging |
Het |
| Per3 |
A |
T |
4: 151,097,014 (GRCm39) |
M837K |
possibly damaging |
Het |
| Pitpnm3 |
T |
A |
11: 71,961,144 (GRCm39) |
H357L |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
T |
C |
2: 135,093,654 (GRCm39) |
Y156H |
possibly damaging |
Het |
| Ppm1d |
C |
T |
11: 85,230,492 (GRCm39) |
P370L |
possibly damaging |
Het |
| Prrc2b |
T |
C |
2: 32,098,686 (GRCm39) |
V666A |
probably benign |
Het |
| Ptpn3 |
A |
T |
4: 57,204,985 (GRCm39) |
C725* |
probably null |
Het |
| Rapgefl1 |
T |
C |
11: 98,738,209 (GRCm39) |
W437R |
probably damaging |
Het |
| Sema4g |
T |
C |
19: 44,980,967 (GRCm39) |
L5P |
probably damaging |
Het |
| Sipa1l1 |
C |
T |
12: 82,480,600 (GRCm39) |
P1529L |
probably benign |
Het |
| Slc12a2 |
T |
C |
18: 58,032,464 (GRCm39) |
L388P |
probably damaging |
Het |
| Sltm |
T |
A |
9: 70,493,360 (GRCm39) |
S786T |
probably damaging |
Het |
| Srsf1 |
T |
C |
11: 87,940,082 (GRCm39) |
I198T |
probably benign |
Het |
| Ssh2 |
C |
T |
11: 77,345,755 (GRCm39) |
R1247* |
probably null |
Het |
| Ssu2 |
T |
C |
6: 112,353,438 (GRCm39) |
T229A |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,059,777 (GRCm39) |
H579Q |
probably damaging |
Het |
| Tanc2 |
T |
A |
11: 105,754,833 (GRCm39) |
V559E |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,030,230 (GRCm39) |
Y1762H |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 122,982,826 (GRCm39) |
Y263C |
possibly damaging |
Het |
| Usp17ld |
A |
T |
7: 102,899,495 (GRCm39) |
V479E |
probably damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,185 (GRCm39) |
S224R |
possibly damaging |
Het |
| Vmn2r8 |
A |
T |
5: 108,949,700 (GRCm39) |
N382K |
probably benign |
Het |
| Wnt2b |
A |
T |
3: 104,854,408 (GRCm39) |
V350D |
possibly 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 |
|
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 |
|
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 |
|
|
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'- AGCATTGGTTTGACACTTGTCC -3'
(R):5'- CTATCAGATTTTAGGGAGGAGATGG -3'
Sequencing Primer
(F):5'- GGTTTGACACTTGTCCAAAACATGAC -3'
(R):5'- TGGAGAGAAACAGAATCTGCATAGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation