Incidental Mutation 'R5415:Vmn1r60'
ID |
427682 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r60
|
Ensembl Gene |
ENSMUSG00000090794 |
Gene Name |
vomeronasal 1 receptor 60 |
Synonyms |
Gm7184 |
MMRRC Submission |
042984-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R5415 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
5547196-5548098 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 5547416 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 228
(H228R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133943
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173782]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000172111
AA Change: H228R
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000133113 Gene: ENSMUSG00000090794 AA Change: H228R
Domain | Start | End | E-Value | Type |
Pfam:TAS2R
|
1 |
294 |
1.1e-10 |
PFAM |
Pfam:7tm_1
|
20 |
280 |
7.3e-12 |
PFAM |
Pfam:V1R
|
31 |
299 |
1.3e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173782
AA Change: H228R
PolyPhen 2
Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000133943 Gene: ENSMUSG00000090794 AA Change: H228R
Domain | Start | End | E-Value | Type |
Pfam:TAS2R
|
8 |
304 |
4.7e-10 |
PFAM |
Pfam:7tm_1
|
30 |
289 |
7.2e-6 |
PFAM |
Pfam:V1R
|
41 |
309 |
1.8e-17 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef18 |
G |
A |
8: 3,438,075 (GRCm39) |
R303H |
probably damaging |
Het |
Ark2c |
C |
A |
18: 77,554,435 (GRCm39) |
V60L |
probably damaging |
Het |
Asb15 |
A |
T |
6: 24,570,690 (GRCm39) |
Q556L |
probably benign |
Het |
Ccr1 |
G |
T |
9: 123,764,413 (GRCm39) |
P39H |
probably damaging |
Het |
Cd177 |
A |
T |
7: 24,451,816 (GRCm39) |
L400Q |
probably damaging |
Het |
Cfap298 |
G |
T |
16: 90,722,953 (GRCm39) |
D260E |
probably benign |
Het |
Cideb |
T |
C |
14: 55,995,312 (GRCm39) |
E58G |
probably damaging |
Het |
Drd2 |
A |
G |
9: 49,313,553 (GRCm39) |
K241E |
possibly damaging |
Het |
Ect2 |
C |
T |
3: 27,201,002 (GRCm39) |
C126Y |
probably damaging |
Het |
Eef1d |
T |
C |
15: 75,775,030 (GRCm39) |
T210A |
probably benign |
Het |
Enpp2 |
G |
A |
15: 54,745,552 (GRCm39) |
H315Y |
probably damaging |
Het |
Ero1b |
A |
T |
13: 12,616,656 (GRCm39) |
M362L |
probably benign |
Het |
Exosc2 |
A |
G |
2: 31,562,578 (GRCm39) |
K73E |
possibly damaging |
Het |
Gm9637 |
T |
A |
14: 19,402,143 (GRCm38) |
|
noncoding transcript |
Het |
Gstm5 |
A |
G |
3: 107,804,811 (GRCm39) |
D101G |
probably damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,519,699 (GRCm39) |
D2137G |
probably benign |
Het |
Mecom |
T |
C |
3: 30,011,675 (GRCm39) |
D619G |
possibly damaging |
Het |
Met |
A |
G |
6: 17,527,084 (GRCm39) |
I512V |
probably benign |
Het |
Myh15 |
A |
G |
16: 48,937,658 (GRCm39) |
K753R |
probably null |
Het |
Nfatc4 |
A |
G |
14: 56,070,091 (GRCm39) |
D753G |
probably benign |
Het |
Or2l5 |
T |
A |
16: 19,333,996 (GRCm39) |
H130L |
possibly damaging |
Het |
Or4c113 |
T |
A |
2: 88,885,240 (GRCm39) |
T177S |
probably benign |
Het |
Or4c12 |
T |
A |
2: 89,773,731 (GRCm39) |
T243S |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Parp9 |
C |
T |
16: 35,763,752 (GRCm39) |
A10V |
probably damaging |
Het |
Pcdh8 |
C |
A |
14: 80,007,688 (GRCm39) |
E292* |
probably null |
Het |
Pdpn |
A |
T |
4: 142,995,788 (GRCm39) |
V161D |
probably damaging |
Het |
Peg3 |
A |
G |
7: 6,711,628 (GRCm39) |
V1198A |
probably benign |
Het |
Phykpl |
T |
C |
11: 51,476,342 (GRCm39) |
S21P |
probably benign |
Het |
Plcb1 |
G |
T |
2: 135,189,322 (GRCm39) |
V817F |
possibly damaging |
Het |
Polk |
T |
C |
13: 96,620,463 (GRCm39) |
Y579C |
probably benign |
Het |
Ppp1r18 |
A |
G |
17: 36,178,511 (GRCm39) |
N129D |
probably benign |
Het |
Psg29 |
C |
A |
7: 16,945,561 (GRCm39) |
|
probably null |
Het |
Rims4 |
C |
T |
2: 163,760,596 (GRCm39) |
R3H |
probably benign |
Het |
Rps6kl1 |
A |
T |
12: 85,186,155 (GRCm39) |
C292S |
probably benign |
Het |
Uaca |
G |
T |
9: 60,777,421 (GRCm39) |
G603C |
possibly damaging |
Het |
Vmn2r7 |
T |
C |
3: 64,623,658 (GRCm39) |
T221A |
probably benign |
Het |
Zfp647 |
C |
A |
15: 76,795,593 (GRCm39) |
V356L |
possibly damaging |
Het |
|
Other mutations in Vmn1r60 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01869:Vmn1r60
|
APN |
7 |
5,547,228 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01892:Vmn1r60
|
APN |
7 |
5,547,309 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02427:Vmn1r60
|
APN |
7 |
5,547,780 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03071:Vmn1r60
|
APN |
7 |
5,547,368 (GRCm39) |
missense |
probably damaging |
0.97 |
R0200:Vmn1r60
|
UTSW |
7 |
5,547,379 (GRCm39) |
missense |
probably benign |
|
R0457:Vmn1r60
|
UTSW |
7 |
5,548,118 (GRCm39) |
start gained |
probably benign |
|
R1175:Vmn1r60
|
UTSW |
7 |
5,547,621 (GRCm39) |
missense |
probably benign |
0.01 |
R1199:Vmn1r60
|
UTSW |
7 |
5,547,971 (GRCm39) |
missense |
probably damaging |
0.99 |
R1529:Vmn1r60
|
UTSW |
7 |
5,547,902 (GRCm39) |
missense |
probably benign |
0.00 |
R1859:Vmn1r60
|
UTSW |
7 |
5,547,549 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2033:Vmn1r60
|
UTSW |
7 |
5,547,819 (GRCm39) |
missense |
probably benign |
|
R2405:Vmn1r60
|
UTSW |
7 |
5,547,912 (GRCm39) |
missense |
probably benign |
|
R3408:Vmn1r60
|
UTSW |
7 |
5,548,148 (GRCm39) |
splice site |
probably null |
|
R3771:Vmn1r60
|
UTSW |
7 |
5,547,710 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3773:Vmn1r60
|
UTSW |
7 |
5,547,710 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3852:Vmn1r60
|
UTSW |
7 |
5,548,026 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4236:Vmn1r60
|
UTSW |
7 |
5,547,803 (GRCm39) |
missense |
probably benign |
0.06 |
R4331:Vmn1r60
|
UTSW |
7 |
5,547,364 (GRCm39) |
nonsense |
probably null |
|
R4439:Vmn1r60
|
UTSW |
7 |
5,547,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R5099:Vmn1r60
|
UTSW |
7 |
5,547,816 (GRCm39) |
missense |
probably damaging |
0.98 |
R5325:Vmn1r60
|
UTSW |
7 |
5,547,201 (GRCm39) |
missense |
probably benign |
|
R5818:Vmn1r60
|
UTSW |
7 |
5,548,098 (GRCm39) |
start codon destroyed |
probably benign |
0.04 |
R6375:Vmn1r60
|
UTSW |
7 |
5,548,017 (GRCm39) |
missense |
probably damaging |
0.96 |
R6378:Vmn1r60
|
UTSW |
7 |
5,547,782 (GRCm39) |
missense |
probably damaging |
0.99 |
R6478:Vmn1r60
|
UTSW |
7 |
5,547,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R6572:Vmn1r60
|
UTSW |
7 |
5,547,599 (GRCm39) |
missense |
probably benign |
0.40 |
R6586:Vmn1r60
|
UTSW |
7 |
5,547,446 (GRCm39) |
missense |
probably benign |
0.00 |
R7061:Vmn1r60
|
UTSW |
7 |
5,547,310 (GRCm39) |
nonsense |
probably null |
|
R7506:Vmn1r60
|
UTSW |
7 |
5,547,861 (GRCm39) |
missense |
|
|
R7589:Vmn1r60
|
UTSW |
7 |
5,547,688 (GRCm39) |
missense |
|
|
R8182:Vmn1r60
|
UTSW |
7 |
5,547,876 (GRCm39) |
missense |
|
|
R9295:Vmn1r60
|
UTSW |
7 |
5,547,218 (GRCm39) |
missense |
probably null |
|
R9408:Vmn1r60
|
UTSW |
7 |
5,547,918 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- TGATGTGCACAGAACAATGAC -3'
(R):5'- AAAGGCAATTCGATATGCTCCATC -3'
Sequencing Primer
(F):5'- GATGTGCACAGAACAATGACCCTTAC -3'
(R):5'- AATTCGATATGCTCCATCTCTGGG -3'
|
Posted On |
2016-09-01 |