Incidental Mutation 'R6580:Vmn1r63'
| ID |
524078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r63
|
| Ensembl Gene |
ENSMUSG00000058631 |
| Gene Name |
vomeronasal 1 receptor 63 |
| Synonyms |
V1R1, V1rd1 |
| MMRRC Submission |
044704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R6580 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
5805344-5808444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5805913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 240
(S240P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074593
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075085]
|
| AlphaFold |
Q9EPT1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075085
AA Change: S240P
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000074593
Gene: ENSMUSG00000058631
AA Change: S240P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
294 |
3.1e-10 |
PFAM |
|
Pfam:V1R
|
31 |
297 |
2.2e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207420
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,772,386 (GRCm39) |
R525H |
probably benign |
Het |
| Acox3 |
T |
A |
5: 35,765,747 (GRCm39) |
L600Q |
probably damaging |
Het |
| Ankrd49 |
A |
G |
9: 14,692,694 (GRCm39) |
S157P |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,842,099 (GRCm39) |
F1444S |
possibly damaging |
Het |
| Cimap2 |
G |
T |
4: 106,468,711 (GRCm39) |
H271N |
possibly damaging |
Het |
| Defb28 |
C |
T |
2: 152,360,215 (GRCm39) |
S10L |
possibly damaging |
Het |
| Epha6 |
T |
G |
16: 59,502,979 (GRCm39) |
N976T |
probably damaging |
Het |
| Gm45861 |
A |
G |
8: 28,034,979 (GRCm39) |
K976E |
unknown |
Het |
| Gtf2ird1 |
T |
G |
5: 134,389,893 (GRCm39) |
N920H |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,243,519 (GRCm39) |
M1695K |
probably benign |
Het |
| Hfm1 |
C |
T |
5: 106,995,575 (GRCm39) |
E1279K |
probably benign |
Het |
| Il31ra |
C |
T |
13: 112,688,476 (GRCm39) |
D34N |
possibly damaging |
Het |
| Klhl3 |
T |
A |
13: 58,166,701 (GRCm39) |
I430F |
possibly damaging |
Het |
| Mfhas1 |
A |
G |
8: 36,056,419 (GRCm39) |
Y298C |
probably damaging |
Het |
| Muc20 |
A |
T |
16: 32,613,859 (GRCm39) |
M506K |
possibly damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Naip1 |
T |
A |
13: 100,581,157 (GRCm39) |
D30V |
probably damaging |
Het |
| Nol9 |
A |
G |
4: 152,136,218 (GRCm39) |
N430S |
probably benign |
Het |
| Or8b44 |
T |
C |
9: 38,410,319 (GRCm39) |
M118T |
probably damaging |
Het |
| Palm3 |
A |
G |
8: 84,756,177 (GRCm39) |
E563G |
probably damaging |
Het |
| Pcdhga4 |
A |
G |
18: 37,820,370 (GRCm39) |
S640G |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,168,694 (GRCm39) |
F679L |
probably damaging |
Het |
| Pierce1 |
A |
G |
2: 28,356,062 (GRCm39) |
W74R |
probably damaging |
Het |
| Polr3c |
A |
G |
3: 96,634,659 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
T |
A |
7: 140,732,925 (GRCm39) |
I236N |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,620,621 (GRCm39) |
Y879C |
possibly damaging |
Het |
| Shc3 |
T |
C |
13: 51,596,809 (GRCm39) |
T405A |
probably benign |
Het |
| Smtnl2 |
G |
T |
11: 72,293,859 (GRCm39) |
S232R |
probably benign |
Het |
| Taar8a |
G |
A |
10: 23,952,791 (GRCm39) |
A132T |
probably damaging |
Het |
| Tex47 |
T |
C |
5: 7,355,212 (GRCm39) |
I131T |
probably damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Vmn2r130 |
T |
C |
17: 23,282,740 (GRCm39) |
V140A |
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,225,110 (GRCm39) |
W467R |
possibly damaging |
Het |
| Zscan12 |
T |
C |
13: 21,553,328 (GRCm39) |
L384P |
probably damaging |
Het |
|
| Other mutations in Vmn1r63 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02465:Vmn1r63
|
APN |
7 |
5,806,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02897:Vmn1r63
|
APN |
7 |
5,805,744 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL03032:Vmn1r63
|
APN |
7 |
5,806,350 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03190:Vmn1r63
|
APN |
7 |
5,806,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0118:Vmn1r63
|
UTSW |
7 |
5,805,838 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0227:Vmn1r63
|
UTSW |
7 |
5,805,741 (GRCm39) |
nonsense |
probably null |
|
|
R0323:Vmn1r63
|
UTSW |
7 |
5,806,335 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0610:Vmn1r63
|
UTSW |
7 |
5,806,063 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0630:Vmn1r63
|
UTSW |
7 |
5,806,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0689:Vmn1r63
|
UTSW |
7 |
5,806,609 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1916:Vmn1r63
|
UTSW |
7 |
5,806,225 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1993:Vmn1r63
|
UTSW |
7 |
5,806,254 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1994:Vmn1r63
|
UTSW |
7 |
5,806,254 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2209:Vmn1r63
|
UTSW |
7 |
5,806,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3787:Vmn1r63
|
UTSW |
7 |
5,805,751 (GRCm39) |
missense |
probably benign |
|
|
R4156:Vmn1r63
|
UTSW |
7 |
5,806,531 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4702:Vmn1r63
|
UTSW |
7 |
5,806,516 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4728:Vmn1r63
|
UTSW |
7 |
5,806,362 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5410:Vmn1r63
|
UTSW |
7 |
5,806,189 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5796:Vmn1r63
|
UTSW |
7 |
5,806,140 (GRCm39) |
missense |
probably benign |
|
|
R6723:Vmn1r63
|
UTSW |
7 |
5,805,948 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7418:Vmn1r63
|
UTSW |
7 |
5,806,554 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7476:Vmn1r63
|
UTSW |
7 |
5,806,000 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7769:Vmn1r63
|
UTSW |
7 |
5,806,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8912:Vmn1r63
|
UTSW |
7 |
5,806,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9684:Vmn1r63
|
UTSW |
7 |
5,805,913 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0027:Vmn1r63
|
UTSW |
7 |
5,805,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGACATGATGCGCAGAG -3'
(R):5'- AATTCAATATGCTCCATCTCTGGG -3'
Sequencing Primer
(F):5'- CATGATGCGCAGAGAACAATGACC -3'
(R):5'- CCATCTCTGGGGTCAGTGTAGAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation