Incidental Mutation 'IGL02246:Vmn1r169'
| ID |
286182 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r169
|
| Ensembl Gene |
ENSMUSG00000094602 |
| Gene Name |
vomeronasal 1 receptor 169 |
| Synonyms |
Gm4232 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL02246
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
23276610-23277524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 23276661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 18
(I18L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170290]
[ENSMUST00000226669]
[ENSMUST00000227547]
[ENSMUST00000227932]
[ENSMUST00000228832]
|
| AlphaFold |
L7N275 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170290
AA Change: I18L
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000126133
Gene: ENSMUSG00000094602
AA Change: I18L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
295 |
4e-14 |
PFAM |
|
Pfam:V1R
|
41 |
295 |
2.1e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226669
AA Change: I18L
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227547
AA Change: I18L
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227932
AA Change: I18L
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228832
AA Change: I18L
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
G |
T |
4: 123,754,655 (GRCm39) |
D190Y |
probably damaging |
Het |
| Acat1 |
G |
A |
9: 53,496,166 (GRCm39) |
L324F |
probably benign |
Het |
| Ago2 |
T |
C |
15: 72,980,267 (GRCm39) |
H743R |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,985,632 (GRCm39) |
L2305F |
probably damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,789,779 (GRCm39) |
H2438Q |
probably damaging |
Het |
| Atm |
G |
T |
9: 53,438,485 (GRCm39) |
Q162K |
probably benign |
Het |
| Bpifa6 |
A |
T |
2: 153,831,196 (GRCm39) |
E254V |
probably damaging |
Het |
| Carns1 |
T |
A |
19: 4,216,431 (GRCm39) |
N584Y |
possibly damaging |
Het |
| Cmklr1 |
T |
C |
5: 113,752,461 (GRCm39) |
N180S |
probably benign |
Het |
| Col6a5 |
G |
A |
9: 105,788,306 (GRCm39) |
R1565* |
probably null |
Het |
| Fbxo43 |
T |
A |
15: 36,162,842 (GRCm39) |
I122L |
probably benign |
Het |
| Fibp |
A |
G |
19: 5,513,264 (GRCm39) |
Y193C |
probably damaging |
Het |
| Gm10923 |
A |
G |
15: 85,001,132 (GRCm39) |
|
probably benign |
Het |
| Il12rb2 |
A |
G |
6: 67,285,940 (GRCm39) |
|
probably null |
Het |
| Jakmip2 |
T |
C |
18: 43,700,223 (GRCm39) |
E445G |
possibly damaging |
Het |
| Krcc1 |
G |
A |
6: 71,261,405 (GRCm39) |
D146N |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Map2k5 |
A |
T |
9: 63,284,411 (GRCm39) |
D43E |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,172,486 (GRCm39) |
K824R |
probably benign |
Het |
| Or2o1 |
T |
C |
11: 49,050,921 (GRCm39) |
S27P |
probably benign |
Het |
| Or51g2 |
T |
C |
7: 102,622,951 (GRCm39) |
T83A |
possibly damaging |
Het |
| Phkg1 |
G |
A |
5: 129,893,479 (GRCm39) |
R324W |
probably damaging |
Het |
| Plcd1 |
G |
A |
9: 118,901,677 (GRCm39) |
L616F |
probably benign |
Het |
| Rnf141 |
A |
T |
7: 110,424,494 (GRCm39) |
S122T |
probably benign |
Het |
| Tap1 |
G |
A |
17: 34,412,963 (GRCm39) |
V593M |
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,325,076 (GRCm39) |
L534P |
probably damaging |
Het |
| Ubr4 |
G |
T |
4: 139,186,414 (GRCm39) |
E640D |
possibly damaging |
Het |
|
| Other mutations in Vmn1r169 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00897:Vmn1r169
|
APN |
7 |
23,277,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01019:Vmn1r169
|
APN |
7 |
23,276,611 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
IGL01667:Vmn1r169
|
APN |
7 |
23,277,225 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL03303:Vmn1r169
|
APN |
7 |
23,277,434 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1345:Vmn1r169
|
UTSW |
7 |
23,277,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6471:Vmn1r169
|
UTSW |
7 |
23,276,970 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7120:Vmn1r169
|
UTSW |
7 |
23,277,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7268:Vmn1r169
|
UTSW |
7 |
23,276,853 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7541:Vmn1r169
|
UTSW |
7 |
23,277,412 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8782:Vmn1r169
|
UTSW |
7 |
23,277,403 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8946:Vmn1r169
|
UTSW |
7 |
23,276,640 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9277:Vmn1r169
|
UTSW |
7 |
23,277,390 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9408:Vmn1r169
|
UTSW |
7 |
23,277,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9458:Vmn1r169
|
UTSW |
7 |
23,276,628 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
| Posted On |
2015-04-16 |
Incidental Mutation