Incidental Mutation 'IGL01697:Vmn1r178'
| ID |
104294 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r178
|
| Ensembl Gene |
ENSMUSG00000062598 |
| Gene Name |
vomeronasal 1 receptor 178 |
| Synonyms |
V1rd13, LOC232959 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL01697
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
23892009-23895622 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23893689 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 54
(I54N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078593]
[ENSMUST00000226450]
[ENSMUST00000226489]
[ENSMUST00000226640]
[ENSMUST00000227993]
|
| AlphaFold |
Q8R2B6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078593
AA Change: I54N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000077666
Gene: ENSMUSG00000062598
AA Change: I54N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
297 |
7.9e-11 |
PFAM |
|
Pfam:7tm_1
|
15 |
283 |
2.5e-7 |
PFAM |
|
Pfam:V1R
|
41 |
296 |
7.8e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226450
AA Change: I54N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226489
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226640
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227993
AA Change: I54N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430015G10Rik |
T |
A |
4: 156,119,156 (GRCm38) |
|
probably benign |
Het |
| Arid2 |
A |
C |
15: 96,361,572 (GRCm38) |
|
probably null |
Het |
| Cadm1 |
C |
A |
9: 47,850,324 (GRCm38) |
D435E |
probably damaging |
Het |
| Dagla |
A |
G |
19: 10,271,198 (GRCm38) |
F33L |
probably benign |
Het |
| Edrf1 |
A |
G |
7: 133,643,730 (GRCm38) |
H199R |
probably benign |
Het |
| F5 |
T |
A |
1: 164,194,052 (GRCm38) |
N1365K |
probably benign |
Het |
| Fam205c |
T |
A |
4: 42,874,163 (GRCm38) |
M2L |
probably benign |
Het |
| Gipc2 |
T |
G |
3: 152,137,608 (GRCm38) |
I131L |
probably benign |
Het |
| Gpc1 |
C |
T |
1: 92,858,410 (GRCm38) |
S507F |
possibly damaging |
Het |
| Grid1 |
A |
G |
14: 35,309,257 (GRCm38) |
D269G |
probably benign |
Het |
| Ighv12-3 |
A |
T |
12: 114,366,953 (GRCm38) |
M1K |
probably null |
Het |
| Kif5b |
T |
C |
18: 6,226,871 (GRCm38) |
H129R |
possibly damaging |
Het |
| Lipo3 |
A |
T |
19: 33,559,565 (GRCm38) |
C252S |
probably damaging |
Het |
| Mast4 |
A |
C |
13: 102,767,893 (GRCm38) |
N645K |
probably damaging |
Het |
| Megf9 |
T |
A |
4: 70,433,472 (GRCm38) |
T471S |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,976,493 (GRCm38) |
D586G |
possibly damaging |
Het |
| Ninl |
A |
T |
2: 150,939,947 (GRCm38) |
L1206Q |
probably damaging |
Het |
| Olfr1446 |
T |
A |
19: 12,890,467 (GRCm38) |
T37S |
probably benign |
Het |
| Olfr45 |
T |
C |
7: 140,691,652 (GRCm38) |
V249A |
possibly damaging |
Het |
| Olfr765 |
C |
A |
10: 129,046,502 (GRCm38) |
C187F |
probably damaging |
Het |
| Oog2 |
T |
A |
4: 144,195,184 (GRCm38) |
N221K |
possibly damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,324,579 (GRCm38) |
A365V |
probably damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,220,464 (GRCm38) |
E181G |
probably benign |
Het |
| Scaf11 |
A |
C |
15: 96,423,623 (GRCm38) |
|
probably benign |
Het |
| Skint7 |
T |
A |
4: 111,980,457 (GRCm38) |
|
probably benign |
Het |
| Sox14 |
T |
C |
9: 99,875,663 (GRCm38) |
I8V |
probably benign |
Het |
| Stim1 |
A |
T |
7: 102,425,969 (GRCm38) |
|
probably benign |
Het |
| Ttc37 |
C |
T |
13: 76,128,733 (GRCm38) |
L479F |
probably benign |
Het |
| Ttll3 |
T |
C |
6: 113,399,729 (GRCm38) |
S357P |
probably benign |
Het |
| Zdhhc2 |
T |
C |
8: 40,467,419 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Vmn1r178 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01781:Vmn1r178
|
APN |
7 |
23,894,009 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01934:Vmn1r178
|
APN |
7 |
23,893,937 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02571:Vmn1r178
|
APN |
7 |
23,894,235 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02727:Vmn1r178
|
APN |
7 |
23,894,446 (GRCm38) |
splice site |
probably null |
|
|
IGL03112:Vmn1r178
|
APN |
7 |
23,893,661 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0112:Vmn1r178
|
UTSW |
7 |
23,894,184 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0830:Vmn1r178
|
UTSW |
7 |
23,894,027 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1186:Vmn1r178
|
UTSW |
7 |
23,893,892 (GRCm38) |
nonsense |
probably null |
|
|
R1340:Vmn1r178
|
UTSW |
7 |
23,893,856 (GRCm38) |
missense |
probably benign |
0.34 |
|
R1640:Vmn1r178
|
UTSW |
7 |
23,894,123 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R1696:Vmn1r178
|
UTSW |
7 |
23,894,200 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1746:Vmn1r178
|
UTSW |
7 |
23,893,904 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3084:Vmn1r178
|
UTSW |
7 |
23,893,906 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4368:Vmn1r178
|
UTSW |
7 |
23,894,022 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5199:Vmn1r178
|
UTSW |
7 |
23,894,389 (GRCm38) |
missense |
probably benign |
0.11 |
|
R6380:Vmn1r178
|
UTSW |
7 |
23,893,559 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R7000:Vmn1r178
|
UTSW |
7 |
23,894,337 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7142:Vmn1r178
|
UTSW |
7 |
23,893,610 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7268:Vmn1r178
|
UTSW |
7 |
23,893,953 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8829:Vmn1r178
|
UTSW |
7 |
23,893,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8832:Vmn1r178
|
UTSW |
7 |
23,893,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9068:Vmn1r178
|
UTSW |
7 |
23,893,979 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9798:Vmn1r178
|
UTSW |
7 |
23,894,308 (GRCm38) |
nonsense |
probably null |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation