Incidental Mutation 'R5016:Vmn1r202'
ID |
385592 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r202
|
Ensembl Gene |
ENSMUSG00000094379 |
Gene Name |
vomeronasal 1 receptor 202 |
Synonyms |
V1ri7 |
MMRRC Submission |
042607-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R5016 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
22685507-22686415 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 22686375 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 14
(F14Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154314
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078642]
[ENSMUST00000228020]
|
AlphaFold |
Q8R259 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078642
AA Change: F14Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000077711 Gene: ENSMUSG00000094379 AA Change: F14Y
Domain | Start | End | E-Value | Type |
Pfam:TAS2R
|
5 |
301 |
2.2e-11 |
PFAM |
Pfam:V1R
|
35 |
300 |
5.6e-44 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228020
AA Change: F14Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 91.0%
|
Validation Efficiency |
97% (56/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
C |
T |
16: 56,491,631 (GRCm39) |
P768S |
probably damaging |
Het |
Adprhl1 |
A |
G |
8: 13,274,889 (GRCm39) |
L623P |
possibly damaging |
Het |
Anapc1 |
A |
T |
2: 128,449,095 (GRCm39) |
|
probably benign |
Het |
Ankzf1 |
C |
A |
1: 75,172,622 (GRCm39) |
|
probably benign |
Het |
Ash1l |
A |
G |
3: 88,889,630 (GRCm39) |
D503G |
probably damaging |
Het |
Atp7b |
T |
C |
8: 22,505,885 (GRCm39) |
|
probably null |
Het |
Bach1 |
T |
A |
16: 87,516,206 (GRCm39) |
V249D |
possibly damaging |
Het |
Ccdc158 |
A |
G |
5: 92,805,751 (GRCm39) |
S335P |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,733,254 (GRCm39) |
C1374* |
probably null |
Het |
Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
Cygb |
A |
G |
11: 116,540,840 (GRCm39) |
F49L |
probably benign |
Het |
Dnah17 |
G |
C |
11: 117,971,592 (GRCm39) |
T2147S |
probably damaging |
Het |
Drd3 |
C |
A |
16: 43,582,609 (GRCm39) |
A34E |
possibly damaging |
Het |
Ephb6 |
G |
A |
6: 41,595,041 (GRCm39) |
R685Q |
probably benign |
Het |
Ezh1 |
G |
A |
11: 101,090,063 (GRCm39) |
|
probably benign |
Het |
Gpr19 |
T |
A |
6: 134,846,880 (GRCm39) |
K231* |
probably null |
Het |
Gpr61 |
A |
G |
3: 108,057,983 (GRCm39) |
V226A |
possibly damaging |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Hnrnpul2 |
A |
G |
19: 8,800,189 (GRCm39) |
K185R |
possibly damaging |
Het |
Igsf9 |
A |
C |
1: 172,318,279 (GRCm39) |
T140P |
probably damaging |
Het |
Ksr2 |
A |
G |
5: 117,638,857 (GRCm39) |
D87G |
probably benign |
Het |
Llgl2 |
A |
G |
11: 115,744,250 (GRCm39) |
E843G |
probably damaging |
Het |
Ltbp4 |
GT |
G |
7: 27,027,110 (GRCm39) |
|
probably null |
Het |
Luc7l2 |
A |
G |
6: 38,562,036 (GRCm39) |
I20V |
possibly damaging |
Het |
Mcm6 |
G |
A |
1: 128,271,164 (GRCm39) |
T485M |
probably damaging |
Het |
Miox |
A |
G |
15: 89,219,767 (GRCm39) |
D85G |
probably null |
Het |
Nudt18 |
T |
C |
14: 70,816,903 (GRCm39) |
F169S |
probably benign |
Het |
Nxpe4 |
A |
G |
9: 48,304,185 (GRCm39) |
N91D |
probably benign |
Het |
Or13c7 |
T |
C |
4: 43,854,596 (GRCm39) |
S96P |
probably benign |
Het |
Or6c215 |
A |
G |
10: 129,637,662 (GRCm39) |
V244A |
probably benign |
Het |
Or8k39 |
T |
G |
2: 86,563,090 (GRCm39) |
I289L |
probably benign |
Het |
Pdss2 |
G |
T |
10: 43,098,001 (GRCm39) |
A82S |
probably damaging |
Het |
Ptprs |
T |
C |
17: 56,726,070 (GRCm39) |
D998G |
probably damaging |
Het |
Rasd2 |
C |
A |
8: 75,948,603 (GRCm39) |
N176K |
probably damaging |
Het |
Serpinb3a |
A |
G |
1: 106,974,060 (GRCm39) |
F284L |
probably damaging |
Het |
Skint6 |
T |
A |
4: 113,028,730 (GRCm39) |
|
probably null |
Het |
Slc12a6 |
C |
T |
2: 112,186,972 (GRCm39) |
|
probably benign |
Het |
Slc22a19 |
G |
A |
19: 7,651,737 (GRCm39) |
T490M |
probably benign |
Het |
Sp2 |
A |
T |
11: 96,846,658 (GRCm39) |
C562S |
probably damaging |
Het |
Specc1 |
A |
G |
11: 62,009,783 (GRCm39) |
E433G |
possibly damaging |
Het |
Sspo |
C |
T |
6: 48,429,214 (GRCm39) |
Q451* |
probably null |
Het |
St6galnac1 |
A |
T |
11: 116,656,706 (GRCm39) |
S478T |
probably damaging |
Het |
Steap4 |
C |
T |
5: 8,026,699 (GRCm39) |
R221* |
probably null |
Het |
Ugt1a5 |
C |
G |
1: 88,093,963 (GRCm39) |
R64G |
probably benign |
Het |
Vmn2r79 |
T |
C |
7: 86,686,548 (GRCm39) |
V643A |
probably benign |
Het |
Vmn2r91 |
C |
A |
17: 18,330,322 (GRCm39) |
Y535* |
probably null |
Het |
Wdr3 |
A |
T |
3: 100,048,936 (GRCm39) |
|
probably benign |
Het |
Wdr95 |
T |
C |
5: 149,468,266 (GRCm39) |
M41T |
probably benign |
Het |
|
Other mutations in Vmn1r202 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01472:Vmn1r202
|
APN |
13 |
22,686,159 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01516:Vmn1r202
|
APN |
13 |
22,685,632 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL01722:Vmn1r202
|
APN |
13 |
22,685,890 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02641:Vmn1r202
|
APN |
13 |
22,686,274 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02863:Vmn1r202
|
APN |
13 |
22,685,640 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02876:Vmn1r202
|
APN |
13 |
22,685,640 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02891:Vmn1r202
|
APN |
13 |
22,685,640 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02943:Vmn1r202
|
APN |
13 |
22,686,364 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03057:Vmn1r202
|
APN |
13 |
22,685,640 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03114:Vmn1r202
|
APN |
13 |
22,685,500 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03114:Vmn1r202
|
APN |
13 |
22,685,640 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03143:Vmn1r202
|
APN |
13 |
22,685,640 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03159:Vmn1r202
|
APN |
13 |
22,685,640 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03097:Vmn1r202
|
UTSW |
13 |
22,685,640 (GRCm39) |
missense |
probably benign |
0.00 |
R0611:Vmn1r202
|
UTSW |
13 |
22,685,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R1350:Vmn1r202
|
UTSW |
13 |
22,685,886 (GRCm39) |
missense |
probably benign |
0.04 |
R1666:Vmn1r202
|
UTSW |
13 |
22,685,540 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1668:Vmn1r202
|
UTSW |
13 |
22,685,540 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1803:Vmn1r202
|
UTSW |
13 |
22,686,313 (GRCm39) |
missense |
probably benign |
0.00 |
R2035:Vmn1r202
|
UTSW |
13 |
22,685,772 (GRCm39) |
missense |
probably damaging |
0.98 |
R2112:Vmn1r202
|
UTSW |
13 |
22,685,904 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2145:Vmn1r202
|
UTSW |
13 |
22,685,953 (GRCm39) |
missense |
possibly damaging |
0.79 |
R3026:Vmn1r202
|
UTSW |
13 |
22,685,932 (GRCm39) |
missense |
probably benign |
0.03 |
R3808:Vmn1r202
|
UTSW |
13 |
22,686,070 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4714:Vmn1r202
|
UTSW |
13 |
22,685,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R5124:Vmn1r202
|
UTSW |
13 |
22,685,920 (GRCm39) |
missense |
probably benign |
0.01 |
R6136:Vmn1r202
|
UTSW |
13 |
22,685,632 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6365:Vmn1r202
|
UTSW |
13 |
22,686,374 (GRCm39) |
missense |
probably benign |
0.12 |
R6982:Vmn1r202
|
UTSW |
13 |
22,685,917 (GRCm39) |
missense |
probably benign |
0.02 |
R7293:Vmn1r202
|
UTSW |
13 |
22,685,872 (GRCm39) |
missense |
probably benign |
0.00 |
R7502:Vmn1r202
|
UTSW |
13 |
22,686,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R7603:Vmn1r202
|
UTSW |
13 |
22,685,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R7672:Vmn1r202
|
UTSW |
13 |
22,685,850 (GRCm39) |
missense |
probably benign |
0.45 |
R7822:Vmn1r202
|
UTSW |
13 |
22,686,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R7954:Vmn1r202
|
UTSW |
13 |
22,685,871 (GRCm39) |
missense |
probably benign |
0.01 |
R8026:Vmn1r202
|
UTSW |
13 |
22,686,314 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8419:Vmn1r202
|
UTSW |
13 |
22,685,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R9079:Vmn1r202
|
UTSW |
13 |
22,685,602 (GRCm39) |
missense |
probably benign |
0.00 |
R9194:Vmn1r202
|
UTSW |
13 |
22,686,316 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Predicted Primers |
PCR Primer
(F):5'- AAATCATGGCTATGGTTCTGACTC -3'
(R):5'- ATCACCATCTCCAGGTCAGC -3'
Sequencing Primer
(F):5'- CATGGCTATGGTTCTGACTCCTATG -3'
(R):5'- ATCTCCAGGTCAGCGGAAC -3'
|
Posted On |
2016-05-10 |