Incidental Mutation 'IGL03373:Vmn1r78'
| ID |
420380 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r78
|
| Ensembl Gene |
ENSMUSG00000061602 |
| Gene Name |
vomeronasal 1 receptor 78 |
| Synonyms |
V1rg7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL03373
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
11886391-11887332 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11887270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 294
(S294P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078039]
[ENSMUST00000228244]
[ENSMUST00000228664]
|
| AlphaFold |
K7N608 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078039
AA Change: S294P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000077186
Gene: ENSMUSG00000061602
AA Change: S294P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
3 |
304 |
5.7e-8 |
PFAM |
|
Pfam:V1R
|
12 |
301 |
1.5e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209489
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228244
AA Change: S294P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228664
AA Change: S294P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| 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 |
|---|
| Adam6a |
A |
T |
12: 113,509,172 (GRCm39) |
Y515F |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,711,751 (GRCm39) |
V1075A |
probably damaging |
Het |
| Alox8 |
T |
C |
11: 69,077,443 (GRCm39) |
T436A |
probably benign |
Het |
| Cdc7 |
T |
A |
5: 107,120,785 (GRCm39) |
|
probably benign |
Het |
| Cdhr1 |
T |
A |
14: 36,818,257 (GRCm39) |
D65V |
possibly damaging |
Het |
| Dnase1 |
A |
G |
16: 3,857,707 (GRCm39) |
E278G |
probably damaging |
Het |
| Eif3g |
A |
T |
9: 20,805,722 (GRCm39) |
|
probably benign |
Het |
| Flnb |
G |
A |
14: 7,890,867 (GRCm38) |
|
probably null |
Het |
| Hars2 |
G |
T |
18: 36,918,998 (GRCm39) |
R86L |
probably damaging |
Het |
| Lmod1 |
C |
T |
1: 135,292,264 (GRCm39) |
A373V |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,763,496 (GRCm39) |
I200T |
probably damaging |
Het |
| Mup1 |
T |
G |
4: 60,457,849 (GRCm39) |
|
probably benign |
Het |
| Nat8f5 |
A |
C |
6: 85,794,529 (GRCm39) |
S144A |
probably benign |
Het |
| Ndnf |
A |
C |
6: 65,681,272 (GRCm39) |
Y517S |
possibly damaging |
Het |
| Nedd4l |
G |
A |
18: 65,314,391 (GRCm39) |
|
probably benign |
Het |
| Nlrp4g |
A |
T |
9: 124,349,853 (GRCm38) |
|
noncoding transcript |
Het |
| Nob1 |
C |
T |
8: 108,144,678 (GRCm39) |
|
probably benign |
Het |
| Nploc4 |
G |
A |
11: 120,300,455 (GRCm39) |
R326* |
probably null |
Het |
| Obox3 |
A |
T |
7: 15,359,715 (GRCm39) |
V318D |
probably benign |
Het |
| Or10a3m |
G |
A |
7: 108,313,339 (GRCm39) |
V248I |
probably damaging |
Het |
| Or10ag57 |
T |
C |
2: 87,218,577 (GRCm39) |
F176S |
probably damaging |
Het |
| Pgm1 |
T |
C |
4: 99,818,741 (GRCm39) |
I130T |
probably damaging |
Het |
| Ptprk |
A |
T |
10: 28,442,533 (GRCm39) |
D845V |
probably damaging |
Het |
| Ptx4 |
T |
A |
17: 25,339,873 (GRCm39) |
S17T |
probably benign |
Het |
| Rasgrf1 |
T |
C |
9: 89,899,084 (GRCm39) |
|
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,596,096 (GRCm39) |
T426A |
probably damaging |
Het |
| Sfpq |
C |
A |
4: 126,920,578 (GRCm39) |
R564S |
possibly damaging |
Het |
| Spint2 |
A |
G |
7: 28,957,634 (GRCm39) |
|
probably benign |
Het |
| Vmn1r27 |
A |
G |
6: 58,192,689 (GRCm39) |
I105T |
probably damaging |
Het |
| Vmn2r40 |
T |
C |
7: 8,923,092 (GRCm39) |
D423G |
probably benign |
Het |
|
| Other mutations in Vmn1r78 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01129:Vmn1r78
|
APN |
7 |
11,887,165 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02019:Vmn1r78
|
APN |
7 |
11,886,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02143:Vmn1r78
|
APN |
7 |
11,886,407 (GRCm39) |
missense |
probably benign |
|
|
IGL02154:Vmn1r78
|
APN |
7 |
11,886,472 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02290:Vmn1r78
|
APN |
7 |
11,887,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03012:Vmn1r78
|
APN |
7 |
11,887,291 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL03256:Vmn1r78
|
APN |
7 |
11,886,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03384:Vmn1r78
|
APN |
7 |
11,887,136 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0016:Vmn1r78
|
UTSW |
7 |
11,887,279 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1445:Vmn1r78
|
UTSW |
7 |
11,886,508 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1748:Vmn1r78
|
UTSW |
7 |
11,887,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:Vmn1r78
|
UTSW |
7 |
11,887,270 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2032:Vmn1r78
|
UTSW |
7 |
11,887,210 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2198:Vmn1r78
|
UTSW |
7 |
11,886,487 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4330:Vmn1r78
|
UTSW |
7 |
11,886,386 (GRCm39) |
splice site |
probably null |
|
|
R4564:Vmn1r78
|
UTSW |
7 |
11,886,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4769:Vmn1r78
|
UTSW |
7 |
11,886,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Vmn1r78
|
UTSW |
7 |
11,886,891 (GRCm39) |
nonsense |
probably null |
|
|
R4802:Vmn1r78
|
UTSW |
7 |
11,886,891 (GRCm39) |
nonsense |
probably null |
|
|
R4860:Vmn1r78
|
UTSW |
7 |
11,886,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Vmn1r78
|
UTSW |
7 |
11,886,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5648:Vmn1r78
|
UTSW |
7 |
11,886,693 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6561:Vmn1r78
|
UTSW |
7 |
11,886,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6869:Vmn1r78
|
UTSW |
7 |
11,886,676 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6945:Vmn1r78
|
UTSW |
7 |
11,886,832 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7793:Vmn1r78
|
UTSW |
7 |
11,887,241 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7954:Vmn1r78
|
UTSW |
7 |
11,887,227 (GRCm39) |
nonsense |
probably null |
|
|
R8698:Vmn1r78
|
UTSW |
7 |
11,886,539 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8830:Vmn1r78
|
UTSW |
7 |
11,887,118 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9624:Vmn1r78
|
UTSW |
7 |
11,886,410 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Vmn1r78
|
UTSW |
7 |
11,886,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation