Incidental Mutation 'R4236:Vmn1r60'
| ID |
321119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r60
|
| Ensembl Gene |
ENSMUSG00000090794 |
| Gene Name |
vomeronasal 1 receptor 60 |
| Synonyms |
Gm7184 |
| MMRRC Submission |
041053-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R4236 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
5547196-5548098 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5547803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 99
(V99A)
|
| 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: V99A
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000133113
Gene: ENSMUSG00000090794
AA Change: V99A
| 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: V99A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000133943
Gene: ENSMUSG00000090794
AA Change: V99A
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
96% (49/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,206,205 (GRCm39) |
K168N |
probably damaging |
Het |
| Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
| Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
| Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
| Cela1 |
T |
C |
15: 100,580,794 (GRCm39) |
Y91C |
probably damaging |
Het |
| Chrnb3 |
C |
A |
8: 27,884,021 (GRCm39) |
L253M |
probably damaging |
Het |
| Col24a1 |
G |
T |
3: 145,230,037 (GRCm39) |
G1493* |
probably null |
Het |
| Dnah7a |
C |
T |
1: 53,486,524 (GRCm39) |
E3346K |
probably benign |
Het |
| Dock5 |
A |
T |
14: 67,993,941 (GRCm39) |
S1845T |
probably benign |
Het |
| Dtx3 |
A |
G |
10: 127,029,058 (GRCm39) |
I60T |
possibly damaging |
Het |
| Eif1ad8 |
A |
T |
12: 87,563,935 (GRCm39) |
D90V |
probably damaging |
Het |
| F2rl1 |
A |
G |
13: 95,649,796 (GRCm39) |
L362P |
probably damaging |
Het |
| Gal3st2c |
T |
C |
1: 93,936,463 (GRCm39) |
F136S |
probably damaging |
Het |
| Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
| Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Klhl23 |
T |
C |
2: 69,654,516 (GRCm39) |
F129L |
probably damaging |
Het |
| Krt71 |
T |
C |
15: 101,643,129 (GRCm39) |
T460A |
probably benign |
Het |
| Madd |
C |
T |
2: 90,997,373 (GRCm39) |
R746Q |
probably benign |
Het |
| Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
| Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
| Myh6 |
T |
G |
14: 55,197,819 (GRCm39) |
M440L |
probably benign |
Het |
| Myh7 |
T |
A |
14: 55,228,575 (GRCm39) |
S205C |
probably benign |
Het |
| Nxpe4 |
A |
T |
9: 48,310,137 (GRCm39) |
T467S |
probably damaging |
Het |
| Or13a20 |
T |
C |
7: 140,232,653 (GRCm39) |
Y254H |
probably damaging |
Het |
| Or1e17 |
A |
G |
11: 73,831,182 (GRCm39) |
T37A |
possibly damaging |
Het |
| Or7g30 |
T |
A |
9: 19,352,886 (GRCm39) |
L226I |
probably damaging |
Het |
| Pcdh7 |
G |
A |
5: 57,876,631 (GRCm39) |
G62D |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,120,923 (GRCm39) |
T683A |
possibly damaging |
Het |
| Plcb2 |
A |
T |
2: 118,540,047 (GRCm39) |
L1082Q |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Slc6a6 |
T |
C |
6: 91,718,257 (GRCm39) |
V357A |
probably damaging |
Het |
| Slitrk6 |
T |
C |
14: 110,987,580 (GRCm39) |
E709G |
probably benign |
Het |
| Spc24 |
T |
C |
9: 21,667,498 (GRCm39) |
|
probably null |
Het |
| Tas2r140 |
A |
T |
6: 133,031,915 (GRCm39) |
V281D |
probably damaging |
Het |
| Tfcp2l1 |
G |
A |
1: 118,589,795 (GRCm39) |
R285H |
probably benign |
Het |
| Tmem132d |
A |
G |
5: 128,509,389 (GRCm39) |
S14P |
possibly damaging |
Het |
| Tulp2 |
A |
G |
7: 45,171,298 (GRCm39) |
K360E |
probably damaging |
Het |
| Zfp599 |
T |
A |
9: 22,161,041 (GRCm39) |
K375* |
probably null |
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 |
|
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 |
|
|
R5415:Vmn1r60
|
UTSW |
7 |
5,547,416 (GRCm39) |
missense |
probably benign |
0.38 |
|
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'- ACCCCAGAGATGGAGCATATC -3'
(R):5'- TGAGGCCCATACAGGTCATTC -3'
Sequencing Primer
(F):5'- GGAGCATATCGAATTGCCTTTAG -3'
(R):5'- TGAGGCCCATACAGGTCATTCTAATC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation