Incidental Mutation 'IGL01999:Vmn1r40'
| ID |
182130 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r40
|
| Ensembl Gene |
ENSMUSG00000096051 |
| Gene Name |
vomeronasal 1 receptor 40 |
| Synonyms |
V1rb7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL01999
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
89688243-89692117 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 89691948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 255
(N255T)
|
| 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: N255T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000074655
Gene: ENSMUSG00000096051
AA Change: N255T
| 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: N255T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227669
AA Change: N72T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228485
AA Change: N72T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228642
AA Change: N255T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cabs1 |
C |
T |
5: 88,127,787 (GRCm39) |
T146I |
possibly damaging |
Het |
| Cfap161 |
C |
T |
7: 83,440,899 (GRCm39) |
V118M |
probably damaging |
Het |
| Cfap95 |
C |
A |
19: 23,569,529 (GRCm39) |
L130F |
possibly damaging |
Het |
| Chrna7 |
T |
C |
7: 62,753,539 (GRCm39) |
M327V |
probably damaging |
Het |
| Ddx18 |
A |
G |
1: 121,489,457 (GRCm39) |
I228T |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,370,422 (GRCm39) |
S4616T |
possibly damaging |
Het |
| Dsp |
T |
A |
13: 38,365,162 (GRCm39) |
M515K |
probably damaging |
Het |
| Dysf |
C |
T |
6: 84,090,600 (GRCm39) |
P1002L |
probably damaging |
Het |
| Exoc7 |
T |
C |
11: 116,191,926 (GRCm39) |
|
probably null |
Het |
| Gria2 |
G |
A |
3: 80,639,398 (GRCm39) |
R205W |
probably damaging |
Het |
| Hacd2 |
T |
C |
16: 34,869,083 (GRCm39) |
|
probably benign |
Het |
| Helz |
G |
T |
11: 107,493,754 (GRCm39) |
|
probably benign |
Het |
| Hgfac |
A |
G |
5: 35,202,155 (GRCm39) |
N352S |
probably benign |
Het |
| Mfsd11 |
T |
A |
11: 116,752,411 (GRCm39) |
F135I |
probably damaging |
Het |
| Mtmr10 |
A |
G |
7: 63,987,460 (GRCm39) |
N667D |
probably benign |
Het |
| Mtmr9 |
A |
C |
14: 63,779,903 (GRCm39) |
F62C |
probably damaging |
Het |
| Nelfcd |
T |
C |
2: 174,265,308 (GRCm39) |
|
probably benign |
Het |
| Nfasc |
A |
G |
1: 132,532,985 (GRCm39) |
|
probably benign |
Het |
| Npnt |
C |
T |
3: 132,614,160 (GRCm39) |
R150Q |
probably damaging |
Het |
| Or5b108 |
G |
A |
19: 13,168,924 (GRCm39) |
A298T |
probably damaging |
Het |
| Or5p55 |
C |
T |
7: 107,566,675 (GRCm39) |
R24C |
probably benign |
Het |
| Or6b13 |
C |
T |
7: 139,782,345 (GRCm39) |
E113K |
probably damaging |
Het |
| Pcdhb2 |
C |
T |
18: 37,429,890 (GRCm39) |
A621V |
probably damaging |
Het |
| Pkd1l1 |
C |
A |
11: 8,786,291 (GRCm39) |
W1921L |
probably benign |
Het |
| Plcb1 |
G |
A |
2: 135,188,238 (GRCm39) |
R777Q |
probably damaging |
Het |
| Plch1 |
G |
A |
3: 63,660,728 (GRCm39) |
P297L |
probably damaging |
Het |
| Ppp2r2b |
T |
C |
18: 42,778,788 (GRCm39) |
|
probably benign |
Het |
| Ppp6r2 |
A |
G |
15: 89,154,155 (GRCm39) |
D372G |
probably benign |
Het |
| Rtn4r |
A |
G |
16: 17,969,321 (GRCm39) |
R250G |
possibly damaging |
Het |
| Sec61a2 |
A |
G |
2: 5,896,174 (GRCm39) |
|
probably benign |
Het |
| Sema3g |
G |
T |
14: 30,939,922 (GRCm39) |
V19L |
probably benign |
Het |
| Sult2a7 |
T |
C |
7: 14,225,648 (GRCm39) |
T113A |
probably benign |
Het |
| Tcp11l1 |
T |
C |
2: 104,528,914 (GRCm39) |
D128G |
possibly damaging |
Het |
| Tln2 |
C |
T |
9: 67,299,787 (GRCm39) |
R155Q |
possibly damaging |
Het |
| Vcan |
A |
G |
13: 89,832,557 (GRCm39) |
L2150P |
probably damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,871,439 (GRCm39) |
N615D |
probably damaging |
Het |
| Zdhhc25 |
A |
G |
15: 88,485,217 (GRCm39) |
E184G |
probably damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation