Incidental Mutation 'R2338:Vmn2r23'
| ID |
246626 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r23
|
| Ensembl Gene |
ENSMUSG00000091620 |
| Gene Name |
vomeronasal 2, receptor 23 |
| Synonyms |
EG435916 |
| MMRRC Submission |
040324-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R2338 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
123679780-123719198 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 123681384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 97
(I97M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172391]
|
| AlphaFold |
E9PXI5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172391
AA Change: I97M
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126682
Gene: ENSMUSG00000091620
AA Change: I97M
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
G |
14: 35,817,109 (GRCm39) |
D53G |
probably benign |
Het |
| A1cf |
C |
T |
19: 31,909,945 (GRCm39) |
P330S |
probably benign |
Het |
| Acta2 |
A |
G |
19: 34,225,941 (GRCm39) |
|
probably benign |
Het |
| Actrt3 |
A |
G |
3: 30,651,985 (GRCm39) |
*370R |
probably null |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Btbd8 |
T |
C |
5: 107,658,440 (GRCm39) |
L1158S |
probably damaging |
Het |
| Cadps2 |
C |
G |
6: 23,838,977 (GRCm39) |
|
probably benign |
Het |
| Camsap3 |
C |
T |
8: 3,656,808 (GRCm39) |
R1048C |
probably damaging |
Het |
| Cdkl2 |
C |
T |
5: 92,181,538 (GRCm39) |
A148T |
possibly damaging |
Het |
| Dab2 |
T |
A |
15: 6,464,733 (GRCm39) |
I395K |
possibly damaging |
Het |
| Dclk2 |
A |
G |
3: 86,706,324 (GRCm39) |
F589S |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,465,470 (GRCm39) |
S1376P |
possibly damaging |
Het |
| Eprs1 |
T |
C |
1: 185,148,005 (GRCm39) |
F1256L |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,895,605 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,202,727 (GRCm39) |
T116A |
possibly damaging |
Het |
| Fem1al |
C |
A |
11: 29,773,718 (GRCm39) |
A580S |
probably benign |
Het |
| Fmnl3 |
T |
C |
15: 99,268,108 (GRCm39) |
T26A |
probably benign |
Het |
| Foxp1 |
A |
G |
6: 98,980,254 (GRCm39) |
V158A |
possibly damaging |
Het |
| G6pd2 |
T |
A |
5: 61,967,351 (GRCm39) |
D375E |
probably benign |
Het |
| Gne |
C |
T |
4: 44,042,196 (GRCm39) |
A460T |
probably damaging |
Het |
| Gprin1 |
T |
A |
13: 54,886,238 (GRCm39) |
|
probably null |
Het |
| Hecw2 |
T |
C |
1: 53,943,581 (GRCm39) |
M949V |
possibly damaging |
Het |
| Herc1 |
G |
A |
9: 66,336,251 (GRCm39) |
V1599M |
possibly damaging |
Het |
| Hk2 |
A |
C |
6: 82,708,096 (GRCm39) |
N628K |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,498,685 (GRCm39) |
T4065A |
possibly damaging |
Het |
| Ipo8 |
T |
A |
6: 148,691,321 (GRCm39) |
Q683L |
probably benign |
Het |
| Krt81 |
A |
G |
15: 101,361,217 (GRCm39) |
I121T |
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,359,340 (GRCm39) |
L322P |
probably benign |
Het |
| Lilrb4a |
A |
G |
10: 51,367,796 (GRCm39) |
M113V |
probably benign |
Het |
| Mnat1 |
G |
A |
12: 73,265,917 (GRCm39) |
|
probably null |
Het |
| Mucl1 |
T |
A |
15: 103,783,964 (GRCm39) |
T68S |
possibly damaging |
Het |
| Npnt |
G |
T |
3: 132,597,170 (GRCm39) |
D461E |
probably damaging |
Het |
| Nrp1 |
A |
T |
8: 129,224,385 (GRCm39) |
Q716L |
probably benign |
Het |
| Or11g25 |
A |
G |
14: 50,723,097 (GRCm39) |
T61A |
possibly damaging |
Het |
| Or12k5 |
T |
G |
2: 36,895,159 (GRCm39) |
S156R |
probably damaging |
Het |
| Or51b6b |
A |
T |
7: 103,309,617 (GRCm39) |
I280N |
possibly damaging |
Het |
| Podxl2 |
T |
C |
6: 88,826,178 (GRCm39) |
Q376R |
probably damaging |
Het |
| Pudp |
T |
C |
18: 50,701,646 (GRCm39) |
D29G |
probably benign |
Het |
| Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
| S1pr3 |
T |
C |
13: 51,573,614 (GRCm39) |
I265T |
possibly damaging |
Het |
| Scgb1b2 |
A |
T |
7: 30,991,038 (GRCm39) |
C23* |
probably null |
Het |
| Spag8 |
G |
T |
4: 43,652,826 (GRCm39) |
R212S |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,335,299 (GRCm39) |
|
probably null |
Het |
| Trmt1l |
C |
T |
1: 151,304,710 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
A |
T |
1: 14,954,469 (GRCm39) |
L810Q |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ugt3a1 |
T |
A |
15: 9,292,059 (GRCm39) |
|
probably benign |
Het |
| Vmn2r65 |
A |
T |
7: 84,590,051 (GRCm39) |
F622I |
possibly damaging |
Het |
| Vps13a |
C |
T |
19: 16,697,817 (GRCm39) |
G766E |
probably damaging |
Het |
| Wnk1 |
T |
C |
6: 119,946,495 (GRCm39) |
T553A |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,341,114 (GRCm39) |
D1118E |
probably damaging |
Het |
| Zfyve9 |
A |
C |
4: 108,517,811 (GRCm39) |
D461E |
probably damaging |
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 |
|
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 |
|
R4697:Vmn2r23
|
UTSW |
6 |
123,718,785 (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'- TCCAGAATTTGAGAGGGAGCAG -3'
(R):5'- GCATACCTGTGGGACATTGT -3'
Sequencing Primer
(F):5'- CAGAGGGGTAGCTGCAGG -3'
(R):5'- CATACCTGTGGGACATTGTAGAGAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation