Incidental Mutation 'IGL03040:Vmn1r220'
| ID |
408843 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r220
|
| Ensembl Gene |
ENSMUSG00000096099 |
| Gene Name |
vomeronasal 1 receptor 220 |
| Synonyms |
V1rh12 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
IGL03040
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
23367798-23368694 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23367952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 248
(D248G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072385]
[ENSMUST00000226651]
[ENSMUST00000227679]
[ENSMUST00000227950]
[ENSMUST00000228239]
[ENSMUST00000228854]
|
| AlphaFold |
Q8R272 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072385
AA Change: D248G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072222
Gene: ENSMUSG00000096099
AA Change: D248G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
33 |
297 |
5e-38 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226651
AA Change: D248G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227679
AA Change: D248G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227950
AA Change: D248G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228239
AA Change: D248G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228854
AA Change: D248G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| 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 |
|---|
| Abcc9 |
C |
A |
6: 142,598,323 (GRCm39) |
G672* |
probably null |
Het |
| Adamts19 |
T |
A |
18: 59,036,080 (GRCm39) |
S422T |
probably benign |
Het |
| Anapc7 |
T |
A |
5: 122,571,450 (GRCm39) |
L175* |
probably null |
Het |
| Atp13a2 |
T |
C |
4: 140,733,484 (GRCm39) |
L986P |
probably damaging |
Het |
| Atp6v1d |
C |
A |
12: 78,904,122 (GRCm39) |
|
probably benign |
Het |
| Bnip5 |
A |
G |
17: 29,134,176 (GRCm39) |
M11T |
probably benign |
Het |
| Cldn5 |
A |
G |
16: 18,596,380 (GRCm39) |
Y212C |
probably damaging |
Het |
| Dgki |
C |
A |
6: 37,126,599 (GRCm39) |
|
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,969,672 (GRCm39) |
S80P |
probably damaging |
Het |
| Extl1 |
A |
T |
4: 134,087,940 (GRCm39) |
|
probably benign |
Het |
| Fam237b |
C |
A |
5: 5,625,566 (GRCm39) |
Y87* |
probably null |
Het |
| Fbxo38 |
T |
C |
18: 62,660,323 (GRCm39) |
H296R |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,857,960 (GRCm39) |
I2085V |
probably benign |
Het |
| Gpd2 |
A |
T |
2: 57,245,805 (GRCm39) |
E445V |
probably benign |
Het |
| Grm8 |
C |
T |
6: 28,126,122 (GRCm39) |
M1I |
probably null |
Het |
| Hnf4g |
T |
A |
3: 3,699,271 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,289,136 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
T |
C |
5: 25,515,350 (GRCm39) |
Q2831R |
probably benign |
Het |
| Nat10 |
C |
A |
2: 103,587,610 (GRCm39) |
|
probably benign |
Het |
| Pbx1 |
C |
A |
1: 168,255,515 (GRCm39) |
|
probably benign |
Het |
| Prkg2 |
C |
T |
5: 99,120,966 (GRCm39) |
|
probably null |
Het |
| Scn10a |
T |
A |
9: 119,452,051 (GRCm39) |
I1291F |
probably damaging |
Het |
| Sh3tc2 |
G |
A |
18: 62,122,481 (GRCm39) |
G414D |
probably benign |
Het |
| Syn2 |
C |
T |
6: 115,240,926 (GRCm39) |
T432I |
possibly damaging |
Het |
| Tnpo1 |
T |
C |
13: 98,996,463 (GRCm39) |
E446G |
probably damaging |
Het |
| Topbp1 |
C |
T |
9: 103,205,866 (GRCm39) |
L835F |
possibly damaging |
Het |
| Ubald1 |
G |
T |
16: 4,693,626 (GRCm39) |
S96R |
possibly damaging |
Het |
| Utp6 |
C |
A |
11: 79,826,939 (GRCm39) |
|
probably benign |
Het |
| Vmn1r19 |
C |
A |
6: 57,382,347 (GRCm39) |
P300Q |
unknown |
Het |
| Zglp1 |
T |
A |
9: 20,974,622 (GRCm39) |
S189C |
probably damaging |
Het |
|
| Other mutations in Vmn1r220 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00870:Vmn1r220
|
APN |
13 |
23,368,647 (GRCm39) |
missense |
probably null |
0.01 |
|
IGL00953:Vmn1r220
|
APN |
13 |
23,367,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00972:Vmn1r220
|
APN |
13 |
23,368,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01511:Vmn1r220
|
APN |
13 |
23,368,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02967:Vmn1r220
|
APN |
13 |
23,368,162 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1226:Vmn1r220
|
UTSW |
13 |
23,368,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Vmn1r220
|
UTSW |
13 |
23,368,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2312:Vmn1r220
|
UTSW |
13 |
23,368,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4223:Vmn1r220
|
UTSW |
13 |
23,368,148 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5655:Vmn1r220
|
UTSW |
13 |
23,368,298 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6188:Vmn1r220
|
UTSW |
13 |
23,368,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6276:Vmn1r220
|
UTSW |
13 |
23,368,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7756:Vmn1r220
|
UTSW |
13 |
23,367,877 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8275:Vmn1r220
|
UTSW |
13 |
23,368,483 (GRCm39) |
nonsense |
probably null |
|
|
R8867:Vmn1r220
|
UTSW |
13 |
23,368,271 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8981:Vmn1r220
|
UTSW |
13 |
23,368,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9218:Vmn1r220
|
UTSW |
13 |
23,368,609 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9278:Vmn1r220
|
UTSW |
13 |
23,368,258 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Posted On |
2016-08-02 |
Incidental Mutation