Incidental Mutation 'R4447:Vmn1r228'
| ID |
328813 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r228
|
| Ensembl Gene |
ENSMUSG00000060245 |
| Gene Name |
vomeronasal 1 receptor 228 |
| Synonyms |
V1re3 |
| MMRRC Submission |
041708-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R4447 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
20996321-20997763 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20997369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 50
(I50V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072410]
|
| AlphaFold |
Q8R2A7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072410
AA Change: I50V
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000072243
Gene: ENSMUSG00000060245
AA Change: I50V
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3930402G23Rik |
T |
A |
8: 10,976,129 (GRCm39) |
|
noncoding transcript |
Het |
| Acsf2 |
G |
T |
11: 94,460,185 (GRCm39) |
P389Q |
possibly damaging |
Het |
| Aldh6a1 |
A |
G |
12: 84,486,483 (GRCm39) |
V120A |
possibly damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,726,948 (GRCm39) |
S415P |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,591,923 (GRCm39) |
|
probably null |
Het |
| Asic4 |
A |
T |
1: 75,447,014 (GRCm39) |
|
probably benign |
Het |
| Atp1a4 |
A |
C |
1: 172,061,998 (GRCm39) |
I709S |
probably damaging |
Het |
| Cyp11b2 |
T |
C |
15: 74,727,412 (GRCm39) |
I90V |
probably benign |
Het |
| Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
| Iqcm |
T |
C |
8: 76,356,394 (GRCm39) |
S176P |
probably damaging |
Het |
| Irf5 |
T |
A |
6: 29,535,941 (GRCm39) |
D318E |
probably damaging |
Het |
| Map2k3 |
A |
T |
11: 60,837,997 (GRCm39) |
S253C |
probably damaging |
Het |
| Mgst1 |
G |
T |
6: 138,118,662 (GRCm39) |
|
probably benign |
Het |
| Mipol1 |
G |
T |
12: 57,399,534 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
A |
T |
1: 151,512,153 (GRCm39) |
|
probably null |
Het |
| Or7c19 |
T |
A |
8: 85,957,995 (GRCm39) |
Y290* |
probably null |
Het |
| Pomgnt1 |
G |
T |
4: 116,010,120 (GRCm39) |
V161L |
possibly damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,404,786 (GRCm39) |
|
probably benign |
Het |
| Rxfp1 |
C |
T |
3: 79,559,434 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,379,693 (GRCm39) |
D197G |
probably damaging |
Het |
| Spata31d1e |
T |
C |
13: 59,890,012 (GRCm39) |
T603A |
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,324,634 (GRCm39) |
T1479I |
probably damaging |
Het |
| Twsg1 |
C |
T |
17: 66,236,782 (GRCm39) |
D83N |
possibly damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,792,021 (GRCm39) |
R23Q |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,159,277 (GRCm39) |
S565T |
possibly damaging |
Het |
| Wwc2 |
A |
G |
8: 48,321,702 (GRCm39) |
Y471H |
unknown |
Het |
| Zfp407 |
A |
T |
18: 84,580,819 (GRCm39) |
V98D |
possibly damaging |
Het |
| Zfp598 |
T |
A |
17: 24,895,529 (GRCm39) |
V73E |
probably damaging |
Het |
| Zscan29 |
T |
A |
2: 121,000,367 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Vmn1r228 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01368:Vmn1r228
|
APN |
17 |
20,996,774 (GRCm39) |
missense |
probably benign |
0.07 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTGCACCCAACATTATTG -3'
(R):5'- CAGTCTTGCTATGATGTCCACC -3'
Sequencing Primer
(F):5'- TGAATAACTGCTTTGACCCAAAAGC -3'
(R):5'- GTCCACCATGACTTTGAACATAGGTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation