Incidental Mutation 'R1208:Vmn1r40'
ID |
100518 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r40
|
Ensembl Gene |
ENSMUSG00000096051 |
Gene Name |
vomeronasal 1 receptor 40 |
Synonyms |
V1rb7 |
MMRRC Submission |
039277-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R1208 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
89688243-89692117 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89691326 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 48
(I48V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154581
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075158]
[ENSMUST00000226925]
[ENSMUST00000227669]
[ENSMUST00000228485]
[ENSMUST00000228642]
|
AlphaFold |
Q9EQ46 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075158
AA Change: I48V
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000074655 Gene: ENSMUSG00000096051 AA Change: I48V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
Pfam:V1R
|
38 |
302 |
3.4e-143 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226925
AA Change: I48V
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227669
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228485
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228642
AA Change: I48V
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 97.8%
- 10x: 91.7%
- 20x: 74.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
C |
T |
3: 59,772,715 (GRCm39) |
P73L |
probably benign |
Het |
Atp13a3 |
A |
T |
16: 30,173,065 (GRCm39) |
C271S |
probably benign |
Het |
Ccl25 |
T |
A |
8: 4,407,631 (GRCm39) |
S199T |
possibly damaging |
Het |
Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
Cep104 |
A |
T |
4: 154,069,836 (GRCm39) |
D270V |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,327,877 (GRCm39) |
Y2084N |
probably damaging |
Het |
Eftud2 |
A |
G |
11: 102,755,592 (GRCm39) |
V214A |
probably benign |
Het |
Epb41l4b |
C |
T |
4: 57,077,252 (GRCm39) |
|
probably null |
Het |
Golgb1 |
AAGAGAGAGAGAGAGA |
AAGAGAGAGAGAGA |
16: 36,735,567 (GRCm39) |
|
probably null |
Het |
Gys2 |
A |
G |
6: 142,396,193 (GRCm39) |
|
probably null |
Het |
Lig4 |
T |
C |
8: 10,021,062 (GRCm39) |
E906G |
probably damaging |
Het |
Mast3 |
G |
A |
8: 71,240,916 (GRCm39) |
|
probably null |
Het |
Mta2 |
G |
A |
19: 8,928,381 (GRCm39) |
R560H |
probably damaging |
Het |
Myom2 |
T |
C |
8: 15,134,631 (GRCm39) |
L478P |
probably damaging |
Het |
Neb |
A |
T |
2: 52,193,912 (GRCm39) |
L673* |
probably null |
Het |
Niban3 |
A |
T |
8: 72,053,119 (GRCm39) |
T125S |
probably damaging |
Het |
Or4c35 |
G |
A |
2: 89,808,836 (GRCm39) |
C238Y |
probably damaging |
Het |
Pdpk1 |
C |
A |
17: 24,312,583 (GRCm39) |
|
probably null |
Het |
Perm1 |
T |
C |
4: 156,301,459 (GRCm39) |
M1T |
probably null |
Het |
Pphln1 |
T |
C |
15: 93,357,610 (GRCm39) |
W162R |
probably damaging |
Het |
Ppp1r13b |
A |
G |
12: 111,811,339 (GRCm39) |
V183A |
probably damaging |
Het |
Recql5 |
T |
C |
11: 115,783,982 (GRCm39) |
K951E |
probably damaging |
Het |
Slc25a25 |
T |
C |
2: 32,307,437 (GRCm39) |
E309G |
probably benign |
Het |
Sycp2 |
A |
T |
2: 177,998,421 (GRCm39) |
I1033N |
possibly damaging |
Het |
Tbpl2 |
A |
T |
2: 23,984,783 (GRCm39) |
N120K |
probably benign |
Het |
Unc5b |
A |
T |
10: 60,602,771 (GRCm39) |
L876Q |
probably damaging |
Het |
Usp9y |
T |
C |
Y: 1,356,282 (GRCm39) |
T1140A |
probably benign |
Het |
Zbbx |
T |
C |
3: 74,945,299 (GRCm39) |
I708V |
possibly damaging |
Het |
Zfp318 |
AGAAGA |
AGAAGAGGAAGA |
17: 46,723,446 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Vmn1r40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01099:Vmn1r40
|
APN |
6 |
89,691,578 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01432:Vmn1r40
|
APN |
6 |
89,691,201 (GRCm39) |
missense |
probably benign |
|
IGL01777:Vmn1r40
|
APN |
6 |
89,691,204 (GRCm39) |
missense |
probably benign |
0.38 |
IGL01834:Vmn1r40
|
APN |
6 |
89,691,554 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL01908:Vmn1r40
|
APN |
6 |
89,691,285 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01908:Vmn1r40
|
APN |
6 |
89,691,291 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01999:Vmn1r40
|
APN |
6 |
89,691,948 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02728:Vmn1r40
|
APN |
6 |
89,691,998 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03169:Vmn1r40
|
APN |
6 |
89,692,005 (GRCm39) |
missense |
probably damaging |
0.97 |
R0448:Vmn1r40
|
UTSW |
6 |
89,691,642 (GRCm39) |
missense |
probably benign |
0.23 |
R0971:Vmn1r40
|
UTSW |
6 |
89,691,272 (GRCm39) |
missense |
probably benign |
0.00 |
R1208:Vmn1r40
|
UTSW |
6 |
89,691,326 (GRCm39) |
missense |
probably benign |
0.13 |
R1448:Vmn1r40
|
UTSW |
6 |
89,691,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R1739:Vmn1r40
|
UTSW |
6 |
89,691,297 (GRCm39) |
missense |
probably benign |
0.00 |
R2170:Vmn1r40
|
UTSW |
6 |
89,691,957 (GRCm39) |
missense |
probably benign |
0.11 |
R3151:Vmn1r40
|
UTSW |
6 |
89,691,548 (GRCm39) |
missense |
probably benign |
0.01 |
R3804:Vmn1r40
|
UTSW |
6 |
89,691,991 (GRCm39) |
missense |
probably benign |
0.29 |
R5098:Vmn1r40
|
UTSW |
6 |
89,691,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R6015:Vmn1r40
|
UTSW |
6 |
89,691,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R7216:Vmn1r40
|
UTSW |
6 |
89,691,606 (GRCm39) |
missense |
not run |
|
R7555:Vmn1r40
|
UTSW |
6 |
89,692,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R7591:Vmn1r40
|
UTSW |
6 |
89,691,755 (GRCm39) |
missense |
probably benign |
0.00 |
R9056:Vmn1r40
|
UTSW |
6 |
89,691,198 (GRCm39) |
missense |
probably benign |
0.14 |
R9286:Vmn1r40
|
UTSW |
6 |
89,692,079 (GRCm39) |
missense |
probably benign |
0.03 |
R9344:Vmn1r40
|
UTSW |
6 |
89,691,235 (GRCm39) |
missense |
probably benign |
0.00 |
R9449:Vmn1r40
|
UTSW |
6 |
89,691,854 (GRCm39) |
missense |
probably benign |
0.39 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTGGCATTTGTGAACAAGGCCATC -3'
(R):5'- TGCAGAAAACATGCTTGTCCTGGAG -3'
Sequencing Primer
(F):5'- GAAGAGTTTTCTCTTTTCTCCTCAGG -3'
(R):5'- CTTGTCCTGGAGTAACTCAGAG -3'
|
Posted On |
2014-01-15 |