Incidental Mutation 'R3917:Vmn2r94'
| ID |
307384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r94
|
| Ensembl Gene |
ENSMUSG00000090417 |
| Gene Name |
vomeronasal 2, receptor 94 |
| Synonyms |
EG665227 |
| MMRRC Submission |
040914-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R3917 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
18461384-18498018 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18464620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 557
(F557L)
|
| 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: F557L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126386
Gene: ENSMUSG00000090417
AA Change: F557L
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
A |
G |
5: 121,737,277 (GRCm39) |
V498A |
probably damaging |
Het |
| Adam19 |
A |
G |
11: 45,951,762 (GRCm39) |
E37G |
probably benign |
Het |
| Apol11b |
A |
G |
15: 77,519,504 (GRCm39) |
I192T |
probably benign |
Het |
| Appl1 |
A |
T |
14: 26,650,561 (GRCm39) |
F537Y |
probably damaging |
Het |
| Atad5 |
A |
C |
11: 79,994,120 (GRCm39) |
K785N |
probably null |
Het |
| Atp1b2 |
A |
G |
11: 69,493,901 (GRCm39) |
V93A |
probably damaging |
Het |
| Bcam |
T |
C |
7: 19,499,375 (GRCm39) |
Y216C |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,464,292 (GRCm39) |
E1352G |
probably damaging |
Het |
| C030005K15Rik |
A |
C |
10: 97,561,453 (GRCm39) |
S93A |
unknown |
Het |
| Cadps |
C |
T |
14: 12,457,702 (GRCm38) |
A1060T |
probably benign |
Het |
| Ccdc88c |
A |
G |
12: 100,907,366 (GRCm39) |
|
probably null |
Het |
| Ccdc89 |
A |
G |
7: 90,076,033 (GRCm39) |
D81G |
probably damaging |
Het |
| Ccnt1 |
A |
G |
15: 98,441,940 (GRCm39) |
S443P |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
T |
C |
1: 179,933,719 (GRCm39) |
|
probably null |
Het |
| Cdk11b |
T |
C |
4: 155,711,258 (GRCm39) |
S47P |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,886,189 (GRCm39) |
D142G |
probably benign |
Het |
| Cntnap4 |
C |
G |
8: 113,602,165 (GRCm39) |
P1190A |
probably benign |
Het |
| Colgalt2 |
T |
A |
1: 152,384,362 (GRCm39) |
Y567* |
probably null |
Het |
| Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,904,922 (GRCm39) |
Y651C |
probably damaging |
Het |
| Fzd3 |
A |
T |
14: 65,473,379 (GRCm39) |
F130I |
probably damaging |
Het |
| Gabarapl2 |
T |
A |
8: 112,679,028 (GRCm39) |
F115L |
probably benign |
Het |
| Gm1043 |
G |
A |
5: 37,350,285 (GRCm39) |
|
probably benign |
Het |
| Gm12185 |
A |
G |
11: 48,806,760 (GRCm39) |
F144L |
probably benign |
Het |
| Gm21961 |
A |
T |
15: 64,886,733 (GRCm39) |
D7E |
unknown |
Het |
| Gtf3a |
A |
G |
5: 146,892,244 (GRCm39) |
K332E |
probably benign |
Het |
| Haao |
A |
G |
17: 84,146,228 (GRCm39) |
|
probably null |
Het |
| Habp2 |
T |
A |
19: 56,299,611 (GRCm39) |
C170S |
probably damaging |
Het |
| Heatr3 |
T |
G |
8: 88,876,999 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
G |
9: 66,341,748 (GRCm39) |
C1846G |
possibly damaging |
Het |
| Hivep3 |
T |
C |
4: 119,956,624 (GRCm39) |
S1647P |
probably benign |
Het |
| Hnrnpul1 |
C |
T |
7: 25,426,300 (GRCm39) |
R517Q |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,286,625 (GRCm39) |
E3648G |
probably damaging |
Het |
| Jaml |
T |
C |
9: 45,012,449 (GRCm39) |
|
probably benign |
Het |
| Jund |
C |
T |
8: 71,151,673 (GRCm39) |
|
probably benign |
Het |
| Klra14-ps |
T |
C |
6: 130,134,595 (GRCm39) |
|
noncoding transcript |
Het |
| Krt88 |
G |
A |
15: 101,350,809 (GRCm39) |
|
probably null |
Het |
| Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
| Lyzl4 |
T |
A |
9: 121,412,101 (GRCm39) |
D105V |
probably damaging |
Het |
| Mst1 |
A |
G |
9: 107,961,494 (GRCm39) |
I575V |
probably benign |
Het |
| Myd88 |
T |
C |
9: 119,170,464 (GRCm39) |
|
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,557,404 (GRCm39) |
V512E |
probably damaging |
Het |
| Ndufv1 |
A |
G |
19: 4,060,002 (GRCm39) |
Y33H |
probably damaging |
Het |
| Nwd1 |
T |
A |
8: 73,394,439 (GRCm39) |
C608* |
probably null |
Het |
| Or10al2 |
T |
A |
17: 37,983,684 (GRCm39) |
F257I |
probably damaging |
Het |
| Or8b37 |
A |
T |
9: 37,958,841 (GRCm39) |
I108F |
probably damaging |
Het |
| Patj |
A |
T |
4: 98,480,245 (GRCm39) |
K1317* |
probably null |
Het |
| Pld5 |
A |
G |
1: 175,791,504 (GRCm39) |
S501P |
probably benign |
Het |
| Pnpo |
A |
G |
11: 96,830,583 (GRCm39) |
V146A |
probably damaging |
Het |
| Ppdpf |
A |
G |
2: 180,829,521 (GRCm39) |
Y16C |
probably benign |
Het |
| Ppp1r27 |
A |
G |
11: 120,441,785 (GRCm39) |
V32A |
possibly damaging |
Het |
| Rbm28 |
T |
C |
6: 29,154,788 (GRCm39) |
D294G |
probably benign |
Het |
| Sdk1 |
T |
A |
5: 142,036,999 (GRCm39) |
D817E |
probably damaging |
Het |
| Shank3 |
A |
G |
15: 89,387,587 (GRCm39) |
D252G |
possibly damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,899,899 (GRCm39) |
|
probably null |
Het |
| Slc35a5 |
G |
C |
16: 44,978,521 (GRCm39) |
|
probably benign |
Het |
| Slc6a5 |
T |
C |
7: 49,561,617 (GRCm39) |
S50P |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,907,819 (GRCm39) |
Y241* |
probably null |
Het |
| Slu7 |
G |
T |
11: 43,331,511 (GRCm39) |
|
probably null |
Het |
| Smad2 |
T |
A |
18: 76,421,008 (GRCm39) |
D82E |
probably benign |
Het |
| Spx |
A |
C |
6: 142,359,757 (GRCm39) |
E33A |
probably damaging |
Het |
| Tdp1 |
A |
G |
12: 99,860,976 (GRCm39) |
Y205C |
probably damaging |
Het |
| Tekt1 |
A |
G |
11: 72,236,574 (GRCm39) |
I296T |
possibly damaging |
Het |
| Tgm1 |
G |
A |
14: 55,950,214 (GRCm39) |
|
probably benign |
Het |
| Tnks |
A |
G |
8: 35,320,515 (GRCm39) |
S719P |
probably damaging |
Het |
| Trip6 |
A |
G |
5: 137,311,941 (GRCm39) |
C47R |
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,174,560 (GRCm39) |
D309G |
possibly damaging |
Het |
| Tti2 |
A |
G |
8: 31,643,547 (GRCm39) |
K221E |
possibly damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn1r57 |
A |
T |
7: 5,223,630 (GRCm39) |
N52Y |
probably damaging |
Het |
| Zbed5 |
T |
C |
5: 129,931,118 (GRCm39) |
Y356H |
possibly damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,108,039 (GRCm39) |
|
probably benign |
Het |
| Zic4 |
C |
A |
9: 91,266,394 (GRCm39) |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCCAACACAGTGGCAAG -3'
(R):5'- ACTGGACTCCTGATCTCATTTAAAC -3'
Sequencing Primer
(F):5'- CAATTGCAAAGGTGGTCTGC -3'
(R):5'- CCTATATTTCTGACCAGATGTAGACC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation