Incidental Mutation 'R4697:Vmn2r23'
| ID |
355772 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r23
|
| Ensembl Gene |
ENSMUSG00000091620 |
| Gene Name |
vomeronasal 2, receptor 23 |
| Synonyms |
EG435916 |
| MMRRC Submission |
041947-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R4697 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
123679780-123719198 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123718785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 713
(I713F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172391]
|
| AlphaFold |
E9PXI5 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158091
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172391
AA Change: I713F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126682
Gene: ENSMUSG00000091620
AA Change: I713F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
79 |
461 |
1.7e-31 |
PFAM |
|
Pfam:NCD3G
|
513 |
566 |
1.2e-23 |
PFAM |
|
Pfam:7tm_3
|
596 |
834 |
1.5e-55 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
96% (75/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,615,243 (GRCm39) |
M1T |
probably null |
Het |
| Aatf |
T |
A |
11: 84,339,964 (GRCm39) |
D449V |
probably damaging |
Het |
| Acbd3 |
T |
A |
1: 180,549,509 (GRCm39) |
|
probably benign |
Het |
| Bicc1 |
T |
A |
10: 70,789,314 (GRCm39) |
I366F |
possibly damaging |
Het |
| Ccdc74a |
T |
C |
16: 17,467,613 (GRCm39) |
S184P |
possibly damaging |
Het |
| Cntn4 |
T |
C |
6: 106,502,446 (GRCm39) |
V401A |
probably damaging |
Het |
| Cux2 |
T |
C |
5: 122,011,816 (GRCm39) |
T540A |
probably damaging |
Het |
| Disp2 |
G |
T |
2: 118,622,165 (GRCm39) |
E966* |
probably null |
Het |
| Dpp7 |
A |
G |
2: 25,244,931 (GRCm39) |
Y209H |
probably benign |
Het |
| Dstyk |
T |
A |
1: 132,377,225 (GRCm39) |
F277Y |
probably damaging |
Het |
| Dtx1 |
A |
T |
5: 120,832,473 (GRCm39) |
|
probably null |
Het |
| Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
| Ednra |
T |
C |
8: 78,391,624 (GRCm39) |
H422R |
probably benign |
Het |
| Erlec1 |
T |
A |
11: 30,902,640 (GRCm39) |
I67F |
probably benign |
Het |
| Fam161b |
G |
A |
12: 84,395,332 (GRCm39) |
|
probably benign |
Het |
| Gata5 |
A |
T |
2: 179,969,172 (GRCm39) |
C345* |
probably null |
Het |
| Glmp |
T |
C |
3: 88,235,581 (GRCm39) |
V47A |
probably damaging |
Het |
| Gm9762 |
T |
A |
3: 78,873,857 (GRCm39) |
|
noncoding transcript |
Het |
| Gnas |
A |
T |
2: 174,139,873 (GRCm39) |
D14V |
probably damaging |
Het |
| Gnl3 |
T |
C |
14: 30,739,286 (GRCm39) |
S53G |
probably damaging |
Het |
| Grhl3 |
C |
T |
4: 135,275,777 (GRCm39) |
V527M |
probably damaging |
Het |
| Hoxd10 |
T |
A |
2: 74,524,531 (GRCm39) |
L281* |
probably null |
Het |
| Kif16b |
T |
G |
2: 142,532,614 (GRCm39) |
Y1175S |
probably benign |
Het |
| Kif2b |
A |
G |
11: 91,467,672 (GRCm39) |
S204P |
probably benign |
Het |
| Klhl40 |
T |
A |
9: 121,607,800 (GRCm39) |
I320N |
probably damaging |
Het |
| Ksr2 |
G |
A |
5: 117,846,212 (GRCm39) |
R693Q |
probably damaging |
Het |
| Mis12 |
A |
G |
11: 70,916,152 (GRCm39) |
K62E |
possibly damaging |
Het |
| Mlc1 |
A |
G |
15: 88,858,980 (GRCm39) |
C102R |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,411,098 (GRCm39) |
I1348T |
unknown |
Het |
| Myh7b |
A |
G |
2: 155,471,242 (GRCm39) |
E1130G |
probably damaging |
Het |
| Nat8f4 |
T |
C |
6: 85,878,368 (GRCm39) |
T52A |
probably benign |
Het |
| Nxpe2 |
C |
A |
9: 48,231,821 (GRCm39) |
V379L |
probably benign |
Het |
| Or10ad1c |
G |
A |
15: 98,084,749 (GRCm39) |
R310W |
probably damaging |
Het |
| Or4c1 |
C |
A |
2: 89,133,246 (GRCm39) |
S230I |
possibly damaging |
Het |
| Or4c1 |
T |
A |
2: 89,133,247 (GRCm39) |
S230C |
probably damaging |
Het |
| Or5b111 |
A |
T |
19: 13,291,081 (GRCm39) |
D189E |
probably benign |
Het |
| Or5b12 |
C |
T |
19: 12,897,298 (GRCm39) |
C125Y |
probably damaging |
Het |
| Pcdhga7 |
A |
T |
18: 37,850,261 (GRCm39) |
Y756F |
probably damaging |
Het |
| Pcsk6 |
T |
A |
7: 65,608,989 (GRCm39) |
Y284N |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,114,786 (GRCm39) |
V1367A |
possibly damaging |
Het |
| Postn |
T |
A |
3: 54,282,492 (GRCm39) |
N484K |
probably damaging |
Het |
| Prkd3 |
C |
T |
17: 79,268,600 (GRCm39) |
V572I |
probably benign |
Het |
| Qser1 |
T |
C |
2: 104,617,528 (GRCm39) |
S1005G |
probably benign |
Het |
| Radil |
G |
T |
5: 142,472,556 (GRCm39) |
D951E |
probably benign |
Het |
| Ripk1 |
C |
T |
13: 34,211,925 (GRCm39) |
R352* |
probably null |
Het |
| Sacs |
T |
C |
14: 61,450,196 (GRCm39) |
F4081L |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,199,288 (GRCm39) |
V11A |
possibly damaging |
Het |
| Sgip1 |
T |
A |
4: 102,791,784 (GRCm39) |
F536I |
probably damaging |
Het |
| Slc45a1 |
A |
G |
4: 150,722,741 (GRCm39) |
L381P |
probably damaging |
Het |
| Smarcad1 |
C |
T |
6: 65,029,625 (GRCm39) |
P71L |
probably benign |
Het |
| Spns1 |
T |
A |
7: 125,976,209 (GRCm39) |
D14V |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 96,122,526 (GRCm39) |
I417F |
possibly damaging |
Het |
| Tas2r113 |
T |
A |
6: 132,870,479 (GRCm39) |
M169K |
probably benign |
Het |
| Tgm1 |
A |
T |
14: 55,943,138 (GRCm39) |
N567K |
probably benign |
Het |
| Thoc2l |
A |
G |
5: 104,670,106 (GRCm39) |
K1543E |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,302,743 (GRCm39) |
R76Q |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,831,155 (GRCm39) |
V1340A |
probably benign |
Het |
| Tspan18 |
A |
T |
2: 93,142,375 (GRCm39) |
|
probably null |
Het |
| Txndc11 |
C |
T |
16: 10,902,178 (GRCm39) |
V679I |
probably damaging |
Het |
| Usf1 |
G |
T |
1: 171,244,532 (GRCm39) |
G144V |
possibly damaging |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,451 (GRCm39) |
Y103C |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,687,168 (GRCm39) |
I850F |
probably damaging |
Het |
| Vps35l |
T |
A |
7: 118,390,671 (GRCm39) |
I455N |
probably damaging |
Het |
| Wdr90 |
C |
T |
17: 26,074,337 (GRCm39) |
R676H |
probably benign |
Het |
| Zfp867 |
G |
A |
11: 59,354,487 (GRCm39) |
R281W |
probably damaging |
Het |
| Zfp939 |
T |
C |
7: 39,122,366 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Vmn2r23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Vmn2r23
|
APN |
6 |
123,706,684 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01012:Vmn2r23
|
APN |
6 |
123,706,555 (GRCm39) |
missense |
probably benign |
|
|
IGL01073:Vmn2r23
|
APN |
6 |
123,689,759 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01547:Vmn2r23
|
APN |
6 |
123,681,383 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01571:Vmn2r23
|
APN |
6 |
123,681,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01950:Vmn2r23
|
APN |
6 |
123,718,845 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02028:Vmn2r23
|
APN |
6 |
123,718,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02248:Vmn2r23
|
APN |
6 |
123,718,703 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02318:Vmn2r23
|
APN |
6 |
123,718,795 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02649:Vmn2r23
|
APN |
6 |
123,681,437 (GRCm39) |
missense |
probably benign |
|
|
IGL02831:Vmn2r23
|
APN |
6 |
123,681,344 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02832:Vmn2r23
|
APN |
6 |
123,681,355 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02865:Vmn2r23
|
APN |
6 |
123,718,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02964:Vmn2r23
|
APN |
6 |
123,718,741 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03347:Vmn2r23
|
APN |
6 |
123,681,333 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03396:Vmn2r23
|
APN |
6 |
123,706,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4472001:Vmn2r23
|
UTSW |
6 |
123,689,936 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0597:Vmn2r23
|
UTSW |
6 |
123,706,680 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0677:Vmn2r23
|
UTSW |
6 |
123,690,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0904:Vmn2r23
|
UTSW |
6 |
123,719,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1330:Vmn2r23
|
UTSW |
6 |
123,718,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1424:Vmn2r23
|
UTSW |
6 |
123,690,229 (GRCm39) |
nonsense |
probably null |
|
|
R1629:Vmn2r23
|
UTSW |
6 |
123,690,386 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1842:Vmn2r23
|
UTSW |
6 |
123,706,649 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1867:Vmn2r23
|
UTSW |
6 |
123,679,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1919:Vmn2r23
|
UTSW |
6 |
123,689,969 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2087:Vmn2r23
|
UTSW |
6 |
123,718,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2338:Vmn2r23
|
UTSW |
6 |
123,681,384 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2568:Vmn2r23
|
UTSW |
6 |
123,719,147 (GRCm39) |
nonsense |
probably null |
|
|
R2867:Vmn2r23
|
UTSW |
6 |
123,690,123 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2867:Vmn2r23
|
UTSW |
6 |
123,690,123 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3500:Vmn2r23
|
UTSW |
6 |
123,690,129 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3789:Vmn2r23
|
UTSW |
6 |
123,718,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4164:Vmn2r23
|
UTSW |
6 |
123,706,697 (GRCm39) |
missense |
probably benign |
|
|
R4506:Vmn2r23
|
UTSW |
6 |
123,679,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Vmn2r23
|
UTSW |
6 |
123,718,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4840:Vmn2r23
|
UTSW |
6 |
123,690,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4983:Vmn2r23
|
UTSW |
6 |
123,710,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5276:Vmn2r23
|
UTSW |
6 |
123,689,936 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5392:Vmn2r23
|
UTSW |
6 |
123,681,323 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5528:Vmn2r23
|
UTSW |
6 |
123,689,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5529:Vmn2r23
|
UTSW |
6 |
123,690,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5664:Vmn2r23
|
UTSW |
6 |
123,690,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5749:Vmn2r23
|
UTSW |
6 |
123,710,232 (GRCm39) |
missense |
probably benign |
|
|
R5761:Vmn2r23
|
UTSW |
6 |
123,689,718 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5762:Vmn2r23
|
UTSW |
6 |
123,710,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5868:Vmn2r23
|
UTSW |
6 |
123,689,901 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5935:Vmn2r23
|
UTSW |
6 |
123,718,854 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6242:Vmn2r23
|
UTSW |
6 |
123,681,359 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6416:Vmn2r23
|
UTSW |
6 |
123,689,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6524:Vmn2r23
|
UTSW |
6 |
123,690,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6576:Vmn2r23
|
UTSW |
6 |
123,710,232 (GRCm39) |
missense |
probably benign |
|
|
R6925:Vmn2r23
|
UTSW |
6 |
123,681,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7148:Vmn2r23
|
UTSW |
6 |
123,689,981 (GRCm39) |
missense |
probably benign |
|
|
R7215:Vmn2r23
|
UTSW |
6 |
123,681,323 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7252:Vmn2r23
|
UTSW |
6 |
123,718,540 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7403:Vmn2r23
|
UTSW |
6 |
123,681,538 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8015:Vmn2r23
|
UTSW |
6 |
123,681,500 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8143:Vmn2r23
|
UTSW |
6 |
123,718,312 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8474:Vmn2r23
|
UTSW |
6 |
123,681,599 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8520:Vmn2r23
|
UTSW |
6 |
123,718,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8679:Vmn2r23
|
UTSW |
6 |
123,690,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8713:Vmn2r23
|
UTSW |
6 |
123,679,991 (GRCm39) |
missense |
|
|
|
R8966:Vmn2r23
|
UTSW |
6 |
123,719,079 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9124:Vmn2r23
|
UTSW |
6 |
123,719,038 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9163:Vmn2r23
|
UTSW |
6 |
123,718,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9189:Vmn2r23
|
UTSW |
6 |
123,681,323 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9451:Vmn2r23
|
UTSW |
6 |
123,710,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9495:Vmn2r23
|
UTSW |
6 |
123,689,672 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9514:Vmn2r23
|
UTSW |
6 |
123,689,672 (GRCm39) |
missense |
probably benign |
0.30 |
|
RF018:Vmn2r23
|
UTSW |
6 |
123,690,075 (GRCm39) |
missense |
probably benign |
0.00 |
|
T0975:Vmn2r23
|
UTSW |
6 |
123,690,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Vmn2r23
|
UTSW |
6 |
123,719,067 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Vmn2r23
|
UTSW |
6 |
123,706,684 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATTGGCCAACCTGGAAC -3'
(R):5'- AGCTGTCAGGTAGCCTTCTCAC -3'
Sequencing Primer
(F):5'- GAACAGTCACTTGTGTCTTGAGAC -3'
(R):5'- GGTAGCCTTCTCACCAGAAAAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation