Incidental Mutation 'IGL01781:Vmn1r178'
| ID |
153906 |
| 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 # |
IGL01781
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
23592954-23593868 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 23593434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 161
(Q161K)
|
| 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: Q161K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077666
Gene: ENSMUSG00000062598
AA Change: Q161K
| 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: Q161K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226489
AA Change: Q88K
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226640
AA Change: Q88K
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227993
AA Change: Q161K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,349,280 (GRCm39) |
I3618N |
probably damaging |
Het |
| Acss1 |
A |
G |
2: 150,479,792 (GRCm39) |
L305P |
probably damaging |
Het |
| Alox12e |
A |
T |
11: 70,212,282 (GRCm39) |
L132Q |
probably damaging |
Het |
| Atp6v0a4 |
T |
C |
6: 38,051,095 (GRCm39) |
N428D |
possibly damaging |
Het |
| Ccdc80 |
C |
T |
16: 44,946,493 (GRCm39) |
H811Y |
probably damaging |
Het |
| Cgn |
T |
C |
3: 94,680,515 (GRCm39) |
M596V |
probably benign |
Het |
| Cpn1 |
T |
A |
19: 43,954,657 (GRCm39) |
E323V |
possibly damaging |
Het |
| Cul9 |
A |
G |
17: 46,850,230 (GRCm39) |
S447P |
probably benign |
Het |
| Cyp2f2 |
A |
T |
7: 26,829,846 (GRCm39) |
Y182F |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,039,558 (GRCm39) |
M2104V |
possibly damaging |
Het |
| Eri3 |
T |
C |
4: 117,421,874 (GRCm39) |
F51L |
probably benign |
Het |
| Fgd5 |
A |
G |
6: 91,965,698 (GRCm39) |
S486G |
possibly damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Ifna4 |
T |
C |
4: 88,760,389 (GRCm39) |
S98P |
probably damaging |
Het |
| Impg2 |
A |
G |
16: 56,072,588 (GRCm39) |
K340R |
probably benign |
Het |
| Man2b2 |
T |
C |
5: 36,971,089 (GRCm39) |
N759S |
possibly damaging |
Het |
| Mfsd1 |
A |
G |
3: 67,495,244 (GRCm39) |
|
probably benign |
Het |
| Or2d36 |
T |
A |
7: 106,746,903 (GRCm39) |
C127S |
probably damaging |
Het |
| Pdcd6ip |
G |
T |
9: 113,520,566 (GRCm39) |
N139K |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,167,349 (GRCm39) |
I193N |
possibly damaging |
Het |
| Pip4p2 |
T |
C |
4: 14,893,566 (GRCm39) |
L143S |
probably damaging |
Het |
| Pramel28 |
C |
A |
4: 143,692,299 (GRCm39) |
C234F |
probably benign |
Het |
| Psg27 |
T |
A |
7: 18,298,989 (GRCm39) |
T111S |
probably damaging |
Het |
| Ptprs |
G |
A |
17: 56,742,676 (GRCm39) |
L489F |
probably damaging |
Het |
| Rpgrip1l |
A |
G |
8: 91,996,846 (GRCm39) |
V76A |
probably benign |
Het |
| Scd1 |
A |
T |
19: 44,388,787 (GRCm39) |
M221K |
possibly damaging |
Het |
| Slc38a7 |
A |
G |
8: 96,570,386 (GRCm39) |
|
probably null |
Het |
| Spon2 |
T |
C |
5: 33,372,904 (GRCm39) |
D266G |
probably benign |
Het |
| Spry4 |
C |
T |
18: 38,723,478 (GRCm39) |
G95D |
probably damaging |
Het |
| Supt20 |
A |
G |
3: 54,602,626 (GRCm39) |
M1V |
probably null |
Het |
| Trappc11 |
A |
C |
8: 47,967,163 (GRCm39) |
F404V |
possibly damaging |
Het |
| Vmn2r25 |
T |
C |
6: 123,816,324 (GRCm39) |
E419G |
possibly damaging |
Het |
| Vstm5 |
A |
G |
9: 15,168,968 (GRCm39) |
H146R |
probably damaging |
Het |
|
| Other mutations in Vmn1r178 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01697:Vmn1r178
|
APN |
7 |
23,593,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01934:Vmn1r178
|
APN |
7 |
23,593,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02571:Vmn1r178
|
APN |
7 |
23,593,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02727:Vmn1r178
|
APN |
7 |
23,593,871 (GRCm39) |
splice site |
probably null |
|
|
IGL03112:Vmn1r178
|
APN |
7 |
23,593,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0112:Vmn1r178
|
UTSW |
7 |
23,593,609 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0830:Vmn1r178
|
UTSW |
7 |
23,593,452 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1186:Vmn1r178
|
UTSW |
7 |
23,593,317 (GRCm39) |
nonsense |
probably null |
|
|
R1340:Vmn1r178
|
UTSW |
7 |
23,593,281 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1640:Vmn1r178
|
UTSW |
7 |
23,593,548 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1696:Vmn1r178
|
UTSW |
7 |
23,593,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1746:Vmn1r178
|
UTSW |
7 |
23,593,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3084:Vmn1r178
|
UTSW |
7 |
23,593,331 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4368:Vmn1r178
|
UTSW |
7 |
23,593,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5199:Vmn1r178
|
UTSW |
7 |
23,593,814 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6380:Vmn1r178
|
UTSW |
7 |
23,592,984 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7000:Vmn1r178
|
UTSW |
7 |
23,593,762 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7142:Vmn1r178
|
UTSW |
7 |
23,593,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7268:Vmn1r178
|
UTSW |
7 |
23,593,378 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8829:Vmn1r178
|
UTSW |
7 |
23,593,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8832:Vmn1r178
|
UTSW |
7 |
23,593,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Vmn1r178
|
UTSW |
7 |
23,593,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9798:Vmn1r178
|
UTSW |
7 |
23,593,733 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation