Incidental Mutation 'IGL01368:Vmn1r228'
| ID |
76020 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r228
|
| Ensembl Gene |
ENSMUSG00000060245 |
| Gene Name |
vomeronasal 1 receptor 228 |
| Synonyms |
V1re3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL01368
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
20996321-20997763 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20996774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 248
(L248P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072410]
|
| AlphaFold |
Q8R2A7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072410
AA Change: L248P
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000072243
Gene: ENSMUSG00000060245
AA Change: L248P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
32 |
317 |
2.6e-11 |
PFAM |
|
Pfam:7tm_1
|
53 |
316 |
2.6e-9 |
PFAM |
|
Pfam:V1R
|
63 |
321 |
1.3e-26 |
PFAM |
|
| 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 |
|---|
| Acod1 |
T |
A |
14: 103,288,770 (GRCm39) |
D93E |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,177,411 (GRCm39) |
Y566C |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,370,063 (GRCm39) |
|
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,851,050 (GRCm39) |
D104E |
probably damaging |
Het |
| Bcl2a1a |
T |
A |
9: 88,839,500 (GRCm39) |
W133R |
probably damaging |
Het |
| Ckm |
C |
T |
7: 19,150,712 (GRCm39) |
Q184* |
probably null |
Het |
| Clk4 |
T |
A |
11: 51,171,999 (GRCm39) |
Y246* |
probably null |
Het |
| Cyp3a57 |
T |
C |
5: 145,305,878 (GRCm39) |
S121P |
probably damaging |
Het |
| Eif1ad15 |
C |
T |
12: 88,287,858 (GRCm39) |
D132N |
unknown |
Het |
| Gm8011 |
T |
C |
14: 42,287,831 (GRCm39) |
|
probably benign |
Het |
| Gpr153 |
T |
C |
4: 152,367,451 (GRCm39) |
F434S |
probably benign |
Het |
| Gpr158 |
G |
T |
2: 21,831,909 (GRCm39) |
W1003L |
probably damaging |
Het |
| Ighv5-9-1 |
T |
C |
12: 113,700,010 (GRCm39) |
E34G |
probably damaging |
Het |
| Igkv16-104 |
G |
T |
6: 68,402,594 (GRCm39) |
R2S |
possibly damaging |
Het |
| Map3k3 |
T |
C |
11: 106,041,215 (GRCm39) |
F395L |
probably benign |
Het |
| Myof |
T |
A |
19: 37,924,905 (GRCm39) |
T1161S |
probably damaging |
Het |
| Nlrp9a |
T |
C |
7: 26,257,299 (GRCm39) |
S217P |
probably damaging |
Het |
| Nol9 |
T |
A |
4: 152,142,848 (GRCm39) |
N687K |
probably benign |
Het |
| Or10ad1 |
T |
C |
15: 98,105,381 (GRCm39) |
I295V |
probably damaging |
Het |
| Or11h23 |
T |
C |
14: 50,948,450 (GRCm39) |
V221A |
possibly damaging |
Het |
| Or2ag15 |
T |
C |
7: 106,340,829 (GRCm39) |
E104G |
probably benign |
Het |
| Or8g33 |
A |
T |
9: 39,337,476 (GRCm39) |
V297D |
probably damaging |
Het |
| Prss1l |
A |
G |
6: 41,373,620 (GRCm39) |
D161G |
possibly damaging |
Het |
| Rrh |
T |
C |
3: 129,602,618 (GRCm39) |
D229G |
probably benign |
Het |
| Sclt1 |
T |
C |
3: 41,665,610 (GRCm39) |
T153A |
probably damaging |
Het |
| Slc41a1 |
G |
A |
1: 131,766,862 (GRCm39) |
V127I |
probably damaging |
Het |
| Smarca2 |
C |
T |
19: 26,751,694 (GRCm39) |
S214L |
possibly damaging |
Het |
| Tmem63a |
T |
C |
1: 180,797,797 (GRCm39) |
V616A |
possibly damaging |
Het |
| Ubr1 |
A |
G |
2: 120,771,612 (GRCm39) |
|
probably benign |
Het |
| Zdhhc16 |
T |
A |
19: 41,929,945 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Vmn1r228 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03275:Vmn1r228
|
APN |
17 |
20,997,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4498001:Vmn1r228
|
UTSW |
17 |
20,996,772 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0097:Vmn1r228
|
UTSW |
17 |
20,996,625 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0097:Vmn1r228
|
UTSW |
17 |
20,996,625 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0270:Vmn1r228
|
UTSW |
17 |
20,996,858 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0279:Vmn1r228
|
UTSW |
17 |
20,996,637 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1544:Vmn1r228
|
UTSW |
17 |
20,997,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1695:Vmn1r228
|
UTSW |
17 |
20,996,560 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2086:Vmn1r228
|
UTSW |
17 |
20,997,455 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2275:Vmn1r228
|
UTSW |
17 |
20,996,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2965:Vmn1r228
|
UTSW |
17 |
20,996,609 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4425:Vmn1r228
|
UTSW |
17 |
20,996,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4447:Vmn1r228
|
UTSW |
17 |
20,997,369 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5031:Vmn1r228
|
UTSW |
17 |
20,996,943 (GRCm39) |
nonsense |
probably null |
|
|
R6345:Vmn1r228
|
UTSW |
17 |
20,997,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7064:Vmn1r228
|
UTSW |
17 |
20,997,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7880:Vmn1r228
|
UTSW |
17 |
20,996,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8000:Vmn1r228
|
UTSW |
17 |
20,997,227 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8290:Vmn1r228
|
UTSW |
17 |
20,996,724 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9022:Vmn1r228
|
UTSW |
17 |
20,996,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9027:Vmn1r228
|
UTSW |
17 |
20,997,422 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9291:Vmn1r228
|
UTSW |
17 |
20,997,023 (GRCm39) |
missense |
probably benign |
|
|
R9492:Vmn1r228
|
UTSW |
17 |
20,996,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9618:Vmn1r228
|
UTSW |
17 |
20,997,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0018:Vmn1r228
|
UTSW |
17 |
20,996,963 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2013-10-07 |
Incidental Mutation