Incidental Mutation 'IGL00950:Vmn1r174'
| ID |
27858 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r174
|
| Ensembl Gene |
ENSMUSG00000090411 |
| Gene Name |
vomeronasal 1 receptor 174 |
| Synonyms |
V1rd22 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL00950
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
23453336-23454277 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 23453911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 192
(H192Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167551]
[ENSMUST00000228331]
|
| AlphaFold |
E9PYW5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167551
AA Change: H192Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126478
Gene: ENSMUSG00000090411
AA Change: H192Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
300 |
4e-9 |
PFAM |
|
Pfam:V1R
|
43 |
300 |
5e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228331
AA Change: H192Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
T |
C |
7: 66,770,660 (GRCm39) |
V923A |
possibly damaging |
Het |
| Als2 |
G |
A |
1: 59,254,541 (GRCm39) |
A272V |
probably benign |
Het |
| Aoc1l1 |
A |
C |
6: 48,955,065 (GRCm39) |
N635T |
possibly damaging |
Het |
| Chrne |
C |
T |
11: 70,509,983 (GRCm39) |
|
probably benign |
Het |
| Dhx34 |
C |
T |
7: 15,933,751 (GRCm39) |
R947H |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,253,482 (GRCm39) |
M1796L |
probably benign |
Het |
| Dstyk |
C |
T |
1: 132,387,726 (GRCm39) |
T820I |
probably damaging |
Het |
| Eif4g1 |
A |
G |
16: 20,502,378 (GRCm39) |
K942E |
probably damaging |
Het |
| Fbn1 |
C |
T |
2: 125,200,743 (GRCm39) |
G1318E |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,889,144 (GRCm39) |
V248A |
probably benign |
Het |
| Gcnt4 |
A |
G |
13: 97,083,064 (GRCm39) |
Y120C |
probably damaging |
Het |
| Gdf5 |
A |
G |
2: 155,783,626 (GRCm39) |
V442A |
probably damaging |
Het |
| H2-Q4 |
A |
C |
17: 35,601,834 (GRCm39) |
D232A |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,048,785 (GRCm39) |
I2423V |
probably benign |
Het |
| Itk |
T |
A |
11: 46,258,723 (GRCm39) |
I60F |
probably damaging |
Het |
| Izumo1 |
T |
A |
7: 45,272,295 (GRCm39) |
C25* |
probably null |
Het |
| Katnip |
T |
A |
7: 125,442,393 (GRCm39) |
D767E |
probably benign |
Het |
| Lamc1 |
G |
T |
1: 153,116,241 (GRCm39) |
P980H |
probably damaging |
Het |
| Ncor2 |
C |
A |
5: 125,163,954 (GRCm39) |
R367L |
unknown |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,059 (GRCm39) |
|
probably null |
Het |
| Rnf123 |
C |
A |
9: 107,944,594 (GRCm39) |
|
probably null |
Het |
| Sh3bgrl2 |
T |
A |
9: 83,459,543 (GRCm39) |
F34I |
probably damaging |
Het |
| Sharpin |
T |
C |
15: 76,232,424 (GRCm39) |
E171G |
probably damaging |
Het |
| Slc22a30 |
A |
T |
19: 8,313,152 (GRCm39) |
D544E |
probably benign |
Het |
| Slc36a1 |
T |
C |
11: 55,116,954 (GRCm39) |
C328R |
probably damaging |
Het |
| Sntg2 |
T |
C |
12: 30,362,680 (GRCm39) |
|
probably benign |
Het |
| Sox13 |
A |
G |
1: 133,314,844 (GRCm39) |
V272A |
probably benign |
Het |
| Sppl2b |
T |
G |
10: 80,699,928 (GRCm39) |
L37R |
probably damaging |
Het |
| Strip1 |
T |
A |
3: 107,528,761 (GRCm39) |
S390C |
probably damaging |
Het |
| Stxbp5 |
T |
A |
10: 9,684,346 (GRCm39) |
|
probably benign |
Het |
| Supt16 |
T |
C |
14: 52,399,255 (GRCm39) |
E1008G |
possibly damaging |
Het |
| Vsir |
C |
T |
10: 60,200,063 (GRCm39) |
Q154* |
probably null |
Het |
| Xrn2 |
A |
T |
2: 146,870,066 (GRCm39) |
R252* |
probably null |
Het |
|
| Other mutations in Vmn1r174 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Vmn1r174
|
APN |
7 |
23,453,958 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01484:Vmn1r174
|
APN |
7 |
23,453,749 (GRCm39) |
nonsense |
probably null |
|
|
IGL02014:Vmn1r174
|
APN |
7 |
23,453,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02190:Vmn1r174
|
APN |
7 |
23,454,252 (GRCm39) |
missense |
unknown |
|
|
IGL03265:Vmn1r174
|
APN |
7 |
23,453,898 (GRCm39) |
nonsense |
probably null |
|
|
IGL03335:Vmn1r174
|
APN |
7 |
23,453,937 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0529:Vmn1r174
|
UTSW |
7 |
23,453,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1489:Vmn1r174
|
UTSW |
7 |
23,453,981 (GRCm39) |
nonsense |
probably null |
|
|
R1645:Vmn1r174
|
UTSW |
7 |
23,453,777 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1691:Vmn1r174
|
UTSW |
7 |
23,453,337 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R1753:Vmn1r174
|
UTSW |
7 |
23,453,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1939:Vmn1r174
|
UTSW |
7 |
23,453,532 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1988:Vmn1r174
|
UTSW |
7 |
23,454,050 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2299:Vmn1r174
|
UTSW |
7 |
23,453,429 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4429:Vmn1r174
|
UTSW |
7 |
23,453,565 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4516:Vmn1r174
|
UTSW |
7 |
23,453,768 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4589:Vmn1r174
|
UTSW |
7 |
23,454,204 (GRCm39) |
nonsense |
probably null |
|
|
R5175:Vmn1r174
|
UTSW |
7 |
23,454,153 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5392:Vmn1r174
|
UTSW |
7 |
23,454,227 (GRCm39) |
missense |
unknown |
|
|
R5503:Vmn1r174
|
UTSW |
7 |
23,453,562 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5568:Vmn1r174
|
UTSW |
7 |
23,453,919 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6705:Vmn1r174
|
UTSW |
7 |
23,453,851 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8168:Vmn1r174
|
UTSW |
7 |
23,454,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8190:Vmn1r174
|
UTSW |
7 |
23,453,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8523:Vmn1r174
|
UTSW |
7 |
23,454,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8555:Vmn1r174
|
UTSW |
7 |
23,453,970 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8913:Vmn1r174
|
UTSW |
7 |
23,453,375 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8979:Vmn1r174
|
UTSW |
7 |
23,453,892 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8990:Vmn1r174
|
UTSW |
7 |
23,453,956 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
X0011:Vmn1r174
|
UTSW |
7 |
23,453,906 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2013-04-17 |
Incidental Mutation