Incidental Mutation 'R5198:Vmn2r63'
ID |
400471 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r63
|
Ensembl Gene |
ENSMUSG00000090751 |
Gene Name |
vomeronasal 2, receptor 63 |
Synonyms |
EG435975 |
MMRRC Submission |
042774-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R5198 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
42552675-42583213 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 42553169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 696
(V696L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163803]
|
AlphaFold |
E9Q0K5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000163803
AA Change: V696L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000129089 Gene: ENSMUSG00000090751 AA Change: V696L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
77 |
471 |
3.5e-43 |
PFAM |
Pfam:NCD3G
|
514 |
567 |
5.1e-23 |
PFAM |
Pfam:7tm_3
|
600 |
835 |
3.5e-51 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
G |
6: 142,571,726 (GRCm39) |
V1121A |
probably benign |
Het |
Adamtsl3 |
A |
C |
7: 82,261,006 (GRCm39) |
K1647Q |
possibly damaging |
Het |
Adgrb1 |
A |
T |
15: 74,415,550 (GRCm39) |
Q710L |
probably null |
Het |
Alox12 |
T |
C |
11: 70,145,243 (GRCm39) |
E110G |
probably damaging |
Het |
Cep152 |
T |
A |
2: 125,429,544 (GRCm39) |
M738L |
probably benign |
Het |
Cma2 |
T |
C |
14: 56,209,532 (GRCm39) |
V38A |
probably benign |
Het |
Dlc1 |
C |
T |
8: 37,405,552 (GRCm39) |
G79D |
probably damaging |
Het |
Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
Dus3l |
A |
G |
17: 57,076,574 (GRCm39) |
I585V |
probably benign |
Het |
Etl4 |
A |
G |
2: 20,718,198 (GRCm39) |
Y313C |
probably damaging |
Het |
Fbxw15 |
C |
A |
9: 109,387,242 (GRCm39) |
S251I |
probably benign |
Het |
Gata4 |
G |
A |
14: 63,437,900 (GRCm39) |
S417L |
probably benign |
Het |
Gdpd5 |
T |
A |
7: 99,087,515 (GRCm39) |
Y60N |
probably damaging |
Het |
Gm17669 |
T |
C |
18: 67,695,626 (GRCm39) |
M57T |
probably benign |
Het |
Gpr39 |
A |
T |
1: 125,605,173 (GRCm39) |
I34F |
probably benign |
Het |
Iffo2 |
T |
A |
4: 139,302,528 (GRCm39) |
D90E |
probably benign |
Het |
Il17c |
A |
G |
8: 123,149,108 (GRCm39) |
D84G |
possibly damaging |
Het |
Itih3 |
T |
C |
14: 30,634,606 (GRCm39) |
T134A |
probably benign |
Het |
Lama2 |
G |
A |
10: 27,222,999 (GRCm39) |
A429V |
probably damaging |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Mug1 |
G |
A |
6: 121,851,521 (GRCm39) |
R806H |
probably damaging |
Het |
Naaa |
G |
A |
5: 92,415,904 (GRCm39) |
R65* |
probably null |
Het |
Nacc2 |
C |
T |
2: 25,950,346 (GRCm39) |
M463I |
probably benign |
Het |
Nemf |
A |
G |
12: 69,402,821 (GRCm39) |
S72P |
probably damaging |
Het |
Nudt7 |
G |
A |
8: 114,862,185 (GRCm39) |
|
probably null |
Het |
Or4b1b |
T |
C |
2: 90,126,737 (GRCm39) |
Q156R |
probably damaging |
Het |
Or52z15 |
T |
C |
7: 103,331,936 (GRCm39) |
S4P |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pacs1 |
T |
C |
19: 5,189,325 (GRCm39) |
D757G |
probably benign |
Het |
Pkd2 |
A |
C |
5: 104,630,958 (GRCm39) |
I461L |
probably benign |
Het |
Potegl |
G |
A |
2: 23,102,473 (GRCm39) |
C121Y |
probably damaging |
Het |
Pramel5 |
T |
G |
4: 144,000,064 (GRCm39) |
|
probably benign |
Het |
Ptgdr |
G |
C |
14: 45,096,300 (GRCm39) |
F137L |
probably damaging |
Het |
Pum1 |
T |
A |
4: 130,507,190 (GRCm39) |
C1085* |
probably null |
Het |
Rfx3 |
T |
C |
19: 27,808,176 (GRCm39) |
D189G |
probably damaging |
Het |
Rlf |
T |
A |
4: 121,005,750 (GRCm39) |
K1077* |
probably null |
Het |
Slc25a30 |
C |
A |
14: 76,007,056 (GRCm39) |
D147Y |
probably benign |
Het |
Smap2 |
T |
C |
4: 120,873,984 (GRCm39) |
E22G |
possibly damaging |
Het |
Szt2 |
T |
C |
4: 118,245,519 (GRCm39) |
T1098A |
probably benign |
Het |
Tbcc |
T |
C |
17: 47,201,788 (GRCm39) |
F58S |
probably damaging |
Het |
Tekt3 |
G |
A |
11: 62,961,134 (GRCm39) |
R101H |
probably damaging |
Het |
Vcan |
T |
A |
13: 89,838,991 (GRCm39) |
E2184D |
probably damaging |
Het |
Vkorc1 |
T |
C |
7: 127,493,760 (GRCm39) |
E18G |
probably benign |
Het |
Vmn1r68 |
T |
C |
7: 10,261,723 (GRCm39) |
H125R |
probably benign |
Het |
Wdr59 |
G |
A |
8: 112,208,620 (GRCm39) |
H421Y |
probably benign |
Het |
Xkr7 |
T |
C |
2: 152,896,873 (GRCm39) |
Y576H |
probably damaging |
Het |
Zfp112 |
T |
C |
7: 23,824,281 (GRCm39) |
V83A |
possibly damaging |
Het |
Zfp616 |
G |
A |
11: 73,974,336 (GRCm39) |
V293I |
probably benign |
Het |
|
Other mutations in Vmn2r63 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01399:Vmn2r63
|
APN |
7 |
42,553,543 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01765:Vmn2r63
|
APN |
7 |
42,552,788 (GRCm39) |
missense |
probably benign |
|
IGL02203:Vmn2r63
|
APN |
7 |
42,553,432 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02825:Vmn2r63
|
APN |
7 |
42,576,274 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03155:Vmn2r63
|
APN |
7 |
42,552,878 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03260:Vmn2r63
|
APN |
7 |
42,578,616 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03411:Vmn2r63
|
APN |
7 |
42,577,368 (GRCm39) |
missense |
probably benign |
0.42 |
PIT4280001:Vmn2r63
|
UTSW |
7 |
42,553,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R0066:Vmn2r63
|
UTSW |
7 |
42,576,514 (GRCm39) |
splice site |
probably benign |
|
R0328:Vmn2r63
|
UTSW |
7 |
42,552,699 (GRCm39) |
missense |
probably benign |
0.09 |
R0344:Vmn2r63
|
UTSW |
7 |
42,553,042 (GRCm39) |
missense |
probably damaging |
0.98 |
R0554:Vmn2r63
|
UTSW |
7 |
42,583,129 (GRCm39) |
nonsense |
probably null |
|
R0555:Vmn2r63
|
UTSW |
7 |
42,577,952 (GRCm39) |
nonsense |
probably null |
|
R0685:Vmn2r63
|
UTSW |
7 |
42,577,434 (GRCm39) |
missense |
probably benign |
0.13 |
R0751:Vmn2r63
|
UTSW |
7 |
42,577,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R1349:Vmn2r63
|
UTSW |
7 |
42,578,642 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1372:Vmn2r63
|
UTSW |
7 |
42,578,642 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1416:Vmn2r63
|
UTSW |
7 |
42,577,339 (GRCm39) |
missense |
probably benign |
0.00 |
R1502:Vmn2r63
|
UTSW |
7 |
42,578,015 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1563:Vmn2r63
|
UTSW |
7 |
42,553,550 (GRCm39) |
missense |
probably benign |
0.00 |
R1652:Vmn2r63
|
UTSW |
7 |
42,577,635 (GRCm39) |
missense |
probably benign |
0.32 |
R1693:Vmn2r63
|
UTSW |
7 |
42,577,743 (GRCm39) |
missense |
probably benign |
|
R1698:Vmn2r63
|
UTSW |
7 |
42,583,038 (GRCm39) |
missense |
probably benign |
|
R1753:Vmn2r63
|
UTSW |
7 |
42,577,669 (GRCm39) |
nonsense |
probably null |
|
R2136:Vmn2r63
|
UTSW |
7 |
42,576,297 (GRCm39) |
missense |
probably damaging |
0.99 |
R2175:Vmn2r63
|
UTSW |
7 |
42,583,004 (GRCm39) |
critical splice donor site |
probably null |
|
R2261:Vmn2r63
|
UTSW |
7 |
42,578,031 (GRCm39) |
missense |
probably benign |
0.02 |
R2262:Vmn2r63
|
UTSW |
7 |
42,578,031 (GRCm39) |
missense |
probably benign |
0.02 |
R2263:Vmn2r63
|
UTSW |
7 |
42,578,031 (GRCm39) |
missense |
probably benign |
0.02 |
R3413:Vmn2r63
|
UTSW |
7 |
42,576,406 (GRCm39) |
missense |
probably benign |
0.04 |
R3426:Vmn2r63
|
UTSW |
7 |
42,576,406 (GRCm39) |
missense |
probably benign |
0.04 |
R3427:Vmn2r63
|
UTSW |
7 |
42,576,406 (GRCm39) |
missense |
probably benign |
0.04 |
R3802:Vmn2r63
|
UTSW |
7 |
42,552,829 (GRCm39) |
missense |
probably damaging |
0.99 |
R4319:Vmn2r63
|
UTSW |
7 |
42,576,406 (GRCm39) |
missense |
probably benign |
0.04 |
R4321:Vmn2r63
|
UTSW |
7 |
42,576,406 (GRCm39) |
missense |
probably benign |
0.04 |
R4323:Vmn2r63
|
UTSW |
7 |
42,576,406 (GRCm39) |
missense |
probably benign |
0.04 |
R4346:Vmn2r63
|
UTSW |
7 |
42,577,537 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4568:Vmn2r63
|
UTSW |
7 |
42,583,250 (GRCm39) |
splice site |
probably null |
|
R4649:Vmn2r63
|
UTSW |
7 |
42,553,114 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4653:Vmn2r63
|
UTSW |
7 |
42,553,114 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4679:Vmn2r63
|
UTSW |
7 |
42,577,544 (GRCm39) |
missense |
probably benign |
0.00 |
R4734:Vmn2r63
|
UTSW |
7 |
42,577,544 (GRCm39) |
missense |
probably benign |
0.00 |
R4741:Vmn2r63
|
UTSW |
7 |
42,577,544 (GRCm39) |
missense |
probably benign |
0.00 |
R4748:Vmn2r63
|
UTSW |
7 |
42,577,544 (GRCm39) |
missense |
probably benign |
0.00 |
R4806:Vmn2r63
|
UTSW |
7 |
42,576,314 (GRCm39) |
missense |
probably benign |
0.34 |
R4933:Vmn2r63
|
UTSW |
7 |
42,553,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R5399:Vmn2r63
|
UTSW |
7 |
42,577,701 (GRCm39) |
missense |
probably benign |
|
R5400:Vmn2r63
|
UTSW |
7 |
42,577,635 (GRCm39) |
missense |
probably benign |
0.32 |
R6158:Vmn2r63
|
UTSW |
7 |
42,583,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R6185:Vmn2r63
|
UTSW |
7 |
42,578,435 (GRCm39) |
missense |
probably damaging |
0.98 |
R6267:Vmn2r63
|
UTSW |
7 |
42,578,059 (GRCm39) |
splice site |
probably null |
|
R6362:Vmn2r63
|
UTSW |
7 |
42,552,721 (GRCm39) |
missense |
probably benign |
|
R6706:Vmn2r63
|
UTSW |
7 |
42,578,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R6764:Vmn2r63
|
UTSW |
7 |
42,552,695 (GRCm39) |
missense |
probably damaging |
0.97 |
R7104:Vmn2r63
|
UTSW |
7 |
42,577,959 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7503:Vmn2r63
|
UTSW |
7 |
42,583,014 (GRCm39) |
missense |
probably benign |
0.02 |
R7506:Vmn2r63
|
UTSW |
7 |
42,576,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R7525:Vmn2r63
|
UTSW |
7 |
42,576,406 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7658:Vmn2r63
|
UTSW |
7 |
42,574,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R7663:Vmn2r63
|
UTSW |
7 |
42,576,466 (GRCm39) |
missense |
probably benign |
0.00 |
R7702:Vmn2r63
|
UTSW |
7 |
42,577,553 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7918:Vmn2r63
|
UTSW |
7 |
42,552,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R8826:Vmn2r63
|
UTSW |
7 |
42,576,441 (GRCm39) |
missense |
probably benign |
0.38 |
R8973:Vmn2r63
|
UTSW |
7 |
42,577,919 (GRCm39) |
missense |
probably benign |
0.19 |
R9024:Vmn2r63
|
UTSW |
7 |
42,577,874 (GRCm39) |
missense |
probably benign |
0.14 |
R9154:Vmn2r63
|
UTSW |
7 |
42,576,413 (GRCm39) |
missense |
probably damaging |
0.96 |
R9731:Vmn2r63
|
UTSW |
7 |
42,553,361 (GRCm39) |
missense |
probably benign |
0.32 |
Z1088:Vmn2r63
|
UTSW |
7 |
42,577,983 (GRCm39) |
missense |
probably benign |
0.09 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGATTCCTGGATAAGAAGGCC -3'
(R):5'- TTGCTTGCTCTACATTGGGC -3'
Sequencing Primer
(F):5'- ATGGTATAGCTCCCAAGTGC -3'
(R):5'- TGCTCTACATTGGGCAGCCC -3'
|
Posted On |
2016-07-06 |