Incidental Mutation 'IGL03250:Vmn1r70'
| ID |
414526 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r70
|
| Ensembl Gene |
ENSMUSG00000045340 |
| Gene Name |
vomeronasal 1 receptor 70 |
| Synonyms |
V1rl1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL03250
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
10367514-10368410 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 10368208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 232
(T232I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055847]
[ENSMUST00000226255]
[ENSMUST00000228090]
|
| AlphaFold |
Q8R254 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055847
AA Change: T232I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054445
Gene: ENSMUSG00000045340
AA Change: T232I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
292 |
2.6e-9 |
PFAM |
|
Pfam:V1R
|
33 |
295 |
3.1e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226182
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226255
AA Change: T232I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228090
AA Change: T213I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bnipl |
C |
T |
3: 95,151,450 (GRCm39) |
|
probably benign |
Het |
| Calb2 |
G |
T |
8: 110,869,739 (GRCm39) |
L265I |
probably benign |
Het |
| Cdhr4 |
C |
T |
9: 107,873,858 (GRCm39) |
R442C |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,940,426 (GRCm39) |
V131A |
probably benign |
Het |
| Ctnnal1 |
G |
T |
4: 56,812,356 (GRCm39) |
N723K |
probably benign |
Het |
| Dclre1b |
T |
C |
3: 103,711,380 (GRCm39) |
|
probably null |
Het |
| Hdac4 |
A |
C |
1: 91,862,322 (GRCm39) |
|
probably null |
Het |
| Mms19 |
A |
T |
19: 41,942,903 (GRCm39) |
|
probably null |
Het |
| Myh7 |
A |
T |
14: 55,229,704 (GRCm39) |
M113K |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,705,556 (GRCm39) |
T127A |
possibly damaging |
Het |
| Plekhm3 |
A |
G |
1: 64,977,206 (GRCm39) |
V88A |
possibly damaging |
Het |
| S100a7l2 |
T |
C |
3: 90,997,715 (GRCm39) |
|
probably benign |
Het |
| Slc17a5 |
A |
G |
9: 78,485,846 (GRCm39) |
S80P |
probably damaging |
Het |
| Suclg1 |
A |
G |
6: 73,247,975 (GRCm39) |
N232S |
probably benign |
Het |
| Upk1a |
A |
T |
7: 30,306,403 (GRCm39) |
V121E |
possibly damaging |
Het |
| Vmn2r4 |
G |
A |
3: 64,314,063 (GRCm39) |
T306I |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,699,124 (GRCm39) |
M2524K |
probably damaging |
Het |
| Wdr6 |
A |
G |
9: 108,450,396 (GRCm39) |
V1044A |
possibly damaging |
Het |
| Zfp809 |
A |
G |
9: 22,149,931 (GRCm39) |
T143A |
possibly damaging |
Het |
|
| Other mutations in Vmn1r70 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03092:Vmn1r70
|
APN |
7 |
10,368,186 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0375:Vmn1r70
|
UTSW |
7 |
10,367,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Vmn1r70
|
UTSW |
7 |
10,368,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0497:Vmn1r70
|
UTSW |
7 |
10,367,953 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1964:Vmn1r70
|
UTSW |
7 |
10,367,737 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2067:Vmn1r70
|
UTSW |
7 |
10,368,264 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3807:Vmn1r70
|
UTSW |
7 |
10,367,715 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4573:Vmn1r70
|
UTSW |
7 |
10,367,556 (GRCm39) |
splice site |
probably null |
|
|
R5070:Vmn1r70
|
UTSW |
7 |
10,368,325 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5442:Vmn1r70
|
UTSW |
7 |
10,367,877 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5558:Vmn1r70
|
UTSW |
7 |
10,368,402 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6036:Vmn1r70
|
UTSW |
7 |
10,367,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6036:Vmn1r70
|
UTSW |
7 |
10,367,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6189:Vmn1r70
|
UTSW |
7 |
10,367,598 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6976:Vmn1r70
|
UTSW |
7 |
10,367,971 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7571:Vmn1r70
|
UTSW |
7 |
10,367,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9236:Vmn1r70
|
UTSW |
7 |
10,368,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9568:Vmn1r70
|
UTSW |
7 |
10,368,292 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9673:Vmn1r70
|
UTSW |
7 |
10,368,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Vmn1r70
|
UTSW |
7 |
10,367,517 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation