Incidental Mutation 'R4010:Vmn1r185'
| ID |
311638 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r185
|
| Ensembl Gene |
ENSMUSG00000091924 |
| Gene Name |
vomeronasal 1 receptor 185 |
| Synonyms |
V1re12 |
| MMRRC Submission |
040947-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R4010 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26310544-26311503 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26311450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 18
(L18F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154688
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171039]
[ENSMUST00000226694]
[ENSMUST00000227264]
[ENSMUST00000227411]
[ENSMUST00000227461]
[ENSMUST00000227479]
[ENSMUST00000227695]
[ENSMUST00000228367]
[ENSMUST00000228676]
[ENSMUST00000228004]
[ENSMUST00000228467]
[ENSMUST00000228633]
[ENSMUST00000228133]
|
| AlphaFold |
Q8R299 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171039
AA Change: L18F
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128295
Gene: ENSMUSG00000091924
AA Change: L18F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
7 |
307 |
4.1e-8 |
PFAM |
|
Pfam:V1R
|
38 |
297 |
1.5e-31 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226694
AA Change: L18F
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227264
AA Change: L18F
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227411
AA Change: L18F
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227461
AA Change: L18F
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227479
AA Change: L18F
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227695
AA Change: L18F
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228367
AA Change: L18F
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228676
AA Change: L18F
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228004
AA Change: L18F
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228467
AA Change: L18F
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228633
AA Change: L18F
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228133
AA Change: L18F
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
C |
5: 88,120,136 (GRCm39) |
S298P |
probably damaging |
Het |
| Abca13 |
G |
A |
11: 9,572,013 (GRCm39) |
|
probably benign |
Het |
| Abcc2 |
A |
G |
19: 43,818,303 (GRCm39) |
N1263S |
possibly damaging |
Het |
| Acss2 |
T |
A |
2: 155,399,548 (GRCm39) |
L529Q |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,286,169 (GRCm39) |
T793A |
possibly damaging |
Het |
| Adsl |
T |
C |
15: 80,850,357 (GRCm39) |
S359P |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,407,569 (GRCm39) |
D360V |
possibly damaging |
Het |
| Ddx60 |
A |
T |
8: 62,409,178 (GRCm39) |
M405L |
probably benign |
Het |
| Frmd6 |
A |
G |
12: 70,946,327 (GRCm39) |
N585S |
probably benign |
Het |
| Fxr1 |
G |
T |
3: 34,119,171 (GRCm39) |
R580L |
probably benign |
Het |
| Ggt7 |
G |
A |
2: 155,342,652 (GRCm39) |
T358M |
probably benign |
Het |
| Gm5435 |
G |
A |
12: 82,543,089 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
C |
T |
7: 40,936,052 (GRCm39) |
H185Y |
probably benign |
Het |
| Ifit2 |
G |
T |
19: 34,551,445 (GRCm39) |
M328I |
probably benign |
Het |
| Itgae |
T |
A |
11: 73,002,165 (GRCm39) |
C90S |
probably benign |
Het |
| Kif1a |
G |
A |
1: 92,950,131 (GRCm39) |
S1424F |
probably benign |
Het |
| Map2k2 |
T |
C |
10: 80,944,769 (GRCm39) |
S94P |
probably damaging |
Het |
| Marveld2 |
C |
A |
13: 100,747,936 (GRCm39) |
|
probably null |
Het |
| Or10a3m |
A |
T |
7: 108,313,366 (GRCm39) |
I269L |
probably benign |
Het |
| Pdcl |
T |
C |
2: 37,242,123 (GRCm39) |
Y209C |
probably damaging |
Het |
| Pde6c |
A |
G |
19: 38,157,884 (GRCm39) |
E636G |
probably damaging |
Het |
| Pggt1b |
A |
G |
18: 46,382,003 (GRCm39) |
Y260H |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,392,496 (GRCm39) |
S1610R |
possibly damaging |
Het |
| Rel |
C |
T |
11: 23,711,138 (GRCm39) |
V10I |
probably benign |
Het |
| Rpa2 |
T |
A |
4: 132,497,960 (GRCm39) |
|
probably null |
Het |
| Rpain |
T |
G |
11: 70,863,833 (GRCm39) |
|
probably benign |
Het |
| Rpl35rt |
T |
C |
1: 156,193,724 (GRCm39) |
V26A |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,794,549 (GRCm39) |
T1237A |
probably benign |
Het |
| Safb |
T |
C |
17: 56,910,765 (GRCm39) |
|
probably benign |
Het |
| Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
| Setd2 |
A |
G |
9: 110,428,263 (GRCm39) |
Q2320R |
probably null |
Het |
| Sh2d4a |
C |
T |
8: 68,787,799 (GRCm39) |
R302C |
probably damaging |
Het |
| Slc19a2 |
T |
G |
1: 164,088,451 (GRCm39) |
S300A |
probably damaging |
Het |
| Slc30a5 |
G |
A |
13: 100,945,741 (GRCm39) |
A537V |
probably damaging |
Het |
| Strip2 |
A |
G |
6: 29,955,584 (GRCm39) |
I717V |
possibly damaging |
Het |
| Supt16 |
A |
C |
14: 52,401,898 (GRCm39) |
F924C |
probably damaging |
Het |
| Tekt4 |
T |
G |
17: 25,695,460 (GRCm39) |
M431R |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,317,526 (GRCm39) |
|
probably benign |
Het |
| Tspear |
T |
C |
10: 77,672,310 (GRCm39) |
|
probably benign |
Het |
| Usp39 |
C |
A |
6: 72,313,468 (GRCm39) |
A241S |
probably benign |
Het |
| Zfp213 |
T |
C |
17: 23,777,064 (GRCm39) |
H326R |
possibly damaging |
Het |
| Zfp354c |
T |
A |
11: 50,705,771 (GRCm39) |
I435F |
probably damaging |
Het |
| Zfp618 |
G |
A |
4: 63,051,801 (GRCm39) |
A861T |
probably benign |
Het |
|
| Other mutations in Vmn1r185 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00925:Vmn1r185
|
APN |
7 |
26,310,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00938:Vmn1r185
|
APN |
7 |
26,311,116 (GRCm39) |
missense |
probably benign |
|
|
IGL01413:Vmn1r185
|
APN |
7 |
26,311,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0207:Vmn1r185
|
UTSW |
7 |
26,311,014 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1497:Vmn1r185
|
UTSW |
7 |
26,311,219 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1505:Vmn1r185
|
UTSW |
7 |
26,310,903 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1966:Vmn1r185
|
UTSW |
7 |
26,310,956 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2022:Vmn1r185
|
UTSW |
7 |
26,310,935 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4093:Vmn1r185
|
UTSW |
7 |
26,311,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4095:Vmn1r185
|
UTSW |
7 |
26,311,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4961:Vmn1r185
|
UTSW |
7 |
26,310,716 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5049:Vmn1r185
|
UTSW |
7 |
26,310,920 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6297:Vmn1r185
|
UTSW |
7 |
26,311,046 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6903:Vmn1r185
|
UTSW |
7 |
26,311,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7046:Vmn1r185
|
UTSW |
7 |
26,310,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7429:Vmn1r185
|
UTSW |
7 |
26,310,603 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8032:Vmn1r185
|
UTSW |
7 |
26,310,558 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8919:Vmn1r185
|
UTSW |
7 |
26,311,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8922:Vmn1r185
|
UTSW |
7 |
26,310,825 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9200:Vmn1r185
|
UTSW |
7 |
26,311,073 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9398:Vmn1r185
|
UTSW |
7 |
26,311,056 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9629:Vmn1r185
|
UTSW |
7 |
26,311,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9726:Vmn1r185
|
UTSW |
7 |
26,310,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Vmn1r185
|
UTSW |
7 |
26,311,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAATGCTATTATGTGGGGCAC -3'
(R):5'- GTCAAAATTTTGGGGATGAGGC -3'
Sequencing Primer
(F):5'- ATGTGGGGCACTCCTGAAG -3'
(R):5'- ATCCTGTATTCTTGAAGTTCCAGG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation