Incidental Mutation 'R6582:Vmn1r71'
ID |
524148 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r71
|
Ensembl Gene |
ENSMUSG00000059206 |
Gene Name |
vomeronasal 1 receptor 71 |
Synonyms |
V1re13 |
MMRRC Submission |
044706-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R6582 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
10481429-10483465 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 10482608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 27
(I27F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079113]
[ENSMUST00000226874]
[ENSMUST00000227003]
[ENSMUST00000227702]
[ENSMUST00000227940]
[ENSMUST00000228248]
[ENSMUST00000228374]
[ENSMUST00000228098]
[ENSMUST00000228526]
[ENSMUST00000228561]
|
AlphaFold |
Q8VIC0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079113
AA Change: I27F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000078116 Gene: ENSMUSG00000059206 AA Change: I27F
Domain | Start | End | E-Value | Type |
Pfam:TAS2R
|
3 |
304 |
2e-8 |
PFAM |
Pfam:7tm_1
|
22 |
289 |
3.1e-6 |
PFAM |
Pfam:V1R
|
34 |
297 |
4.8e-28 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210233
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226874
AA Change: I27F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227003
AA Change: I27F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227702
AA Change: I27F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227940
AA Change: I27F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228248
AA Change: I27F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228374
AA Change: I27F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228098
AA Change: I27F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228526
AA Change: I27F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228561
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,297,384 (GRCm39) |
T2369A |
probably benign |
Het |
Abhd6 |
T |
G |
14: 8,042,828 (GRCm38) |
|
probably null |
Het |
Abhd6 |
G |
T |
14: 8,042,826 (GRCm38) |
G128C |
probably damaging |
Het |
Acsm3 |
A |
G |
7: 119,378,896 (GRCm39) |
E426G |
probably benign |
Het |
Ankrd11 |
T |
C |
8: 123,618,368 (GRCm39) |
D1828G |
probably benign |
Het |
Asmt |
T |
A |
X: 169,108,766 (GRCm39) |
|
probably null |
Het |
Casp4 |
A |
G |
9: 5,324,884 (GRCm39) |
Q232R |
probably benign |
Het |
Cenpt |
A |
T |
8: 106,575,833 (GRCm39) |
L171* |
probably null |
Het |
Chd3 |
AGCGGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGGCGG |
11: 69,259,982 (GRCm39) |
|
probably benign |
Het |
Col5a2 |
G |
T |
1: 45,429,275 (GRCm39) |
H948N |
possibly damaging |
Het |
Dnah9 |
G |
T |
11: 65,951,923 (GRCm39) |
H1859N |
probably damaging |
Het |
Dscaml1 |
G |
A |
9: 45,664,104 (GRCm39) |
R1993Q |
probably benign |
Het |
Fbxw8 |
C |
A |
5: 118,263,028 (GRCm39) |
R217L |
probably benign |
Het |
Flnb |
T |
G |
14: 7,892,275 (GRCm38) |
|
probably null |
Het |
Fyb2 |
A |
G |
4: 104,802,739 (GRCm39) |
N214D |
probably benign |
Het |
Gbp2b |
A |
G |
3: 142,316,801 (GRCm39) |
E484G |
possibly damaging |
Het |
Gzmk |
A |
G |
13: 113,317,045 (GRCm39) |
Y45H |
probably damaging |
Het |
Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
Kcnj6 |
A |
G |
16: 94,633,685 (GRCm39) |
V142A |
possibly damaging |
Het |
Klri2 |
A |
T |
6: 129,716,096 (GRCm39) |
I81K |
possibly damaging |
Het |
Lama3 |
T |
A |
18: 12,710,897 (GRCm39) |
V3144E |
probably damaging |
Het |
Mark1 |
G |
A |
1: 184,644,786 (GRCm39) |
S390L |
possibly damaging |
Het |
Mbd3l1 |
T |
C |
9: 18,396,024 (GRCm39) |
Y50H |
probably benign |
Het |
Mcat |
T |
C |
15: 83,433,383 (GRCm39) |
N220S |
probably benign |
Het |
Muc2 |
A |
G |
7: 141,282,941 (GRCm39) |
E81G |
probably benign |
Het |
Neto1 |
A |
T |
18: 86,512,985 (GRCm39) |
K327* |
probably null |
Het |
Or10j3 |
G |
T |
1: 173,031,847 (GRCm39) |
R308L |
probably benign |
Het |
Or4a67 |
A |
T |
2: 88,598,587 (GRCm39) |
L24Q |
probably damaging |
Het |
Or52p1 |
A |
T |
7: 104,267,648 (GRCm39) |
Y254F |
probably damaging |
Het |
Or52u1 |
T |
C |
7: 104,237,218 (GRCm39) |
L69P |
probably damaging |
Het |
Pidd1 |
A |
T |
7: 141,019,494 (GRCm39) |
V722D |
probably damaging |
Het |
Ppp2r2a |
G |
T |
14: 67,257,253 (GRCm39) |
H326N |
probably damaging |
Het |
Smarca5 |
G |
A |
8: 81,446,281 (GRCm39) |
T473I |
probably damaging |
Het |
Spg11 |
C |
A |
2: 121,922,773 (GRCm39) |
W892L |
probably damaging |
Het |
Tas2r110 |
T |
A |
6: 132,845,248 (GRCm39) |
I93N |
possibly damaging |
Het |
Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
Vsnl1 |
A |
G |
12: 11,376,489 (GRCm39) |
V132A |
probably benign |
Het |
Wdsub1 |
T |
C |
2: 59,708,652 (GRCm39) |
T74A |
probably damaging |
Het |
Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
|
Other mutations in Vmn1r71 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00984:Vmn1r71
|
APN |
7 |
10,482,046 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01921:Vmn1r71
|
APN |
7 |
10,482,199 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02397:Vmn1r71
|
APN |
7 |
10,482,199 (GRCm39) |
missense |
probably benign |
0.27 |
IGL02654:Vmn1r71
|
APN |
7 |
10,482,242 (GRCm39) |
missense |
probably benign |
0.42 |
IGL02900:Vmn1r71
|
APN |
7 |
10,482,601 (GRCm39) |
missense |
probably benign |
0.28 |
IGL03236:Vmn1r71
|
APN |
7 |
10,482,211 (GRCm39) |
missense |
probably benign |
0.11 |
IGL03269:Vmn1r71
|
APN |
7 |
10,482,571 (GRCm39) |
missense |
possibly damaging |
0.88 |
FR4976:Vmn1r71
|
UTSW |
7 |
10,482,048 (GRCm39) |
missense |
probably benign |
|
R0389:Vmn1r71
|
UTSW |
7 |
10,482,238 (GRCm39) |
missense |
probably benign |
0.05 |
R0443:Vmn1r71
|
UTSW |
7 |
10,482,238 (GRCm39) |
missense |
probably benign |
0.05 |
R0470:Vmn1r71
|
UTSW |
7 |
10,482,019 (GRCm39) |
missense |
possibly damaging |
0.64 |
R0471:Vmn1r71
|
UTSW |
7 |
10,482,019 (GRCm39) |
missense |
possibly damaging |
0.64 |
R0472:Vmn1r71
|
UTSW |
7 |
10,482,019 (GRCm39) |
missense |
possibly damaging |
0.64 |
R0567:Vmn1r71
|
UTSW |
7 |
10,482,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R1498:Vmn1r71
|
UTSW |
7 |
10,482,575 (GRCm39) |
missense |
probably benign |
0.01 |
R1745:Vmn1r71
|
UTSW |
7 |
10,482,196 (GRCm39) |
missense |
probably benign |
0.05 |
R2350:Vmn1r71
|
UTSW |
7 |
10,481,846 (GRCm39) |
missense |
probably benign |
0.00 |
R2970:Vmn1r71
|
UTSW |
7 |
10,482,641 (GRCm39) |
missense |
possibly damaging |
0.67 |
R3522:Vmn1r71
|
UTSW |
7 |
10,481,792 (GRCm39) |
missense |
probably benign |
0.03 |
R4193:Vmn1r71
|
UTSW |
7 |
10,482,175 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4736:Vmn1r71
|
UTSW |
7 |
10,481,791 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5115:Vmn1r71
|
UTSW |
7 |
10,481,885 (GRCm39) |
missense |
probably benign |
0.00 |
R6108:Vmn1r71
|
UTSW |
7 |
10,482,545 (GRCm39) |
missense |
probably benign |
0.01 |
R6455:Vmn1r71
|
UTSW |
7 |
10,482,331 (GRCm39) |
missense |
probably benign |
0.01 |
R6696:Vmn1r71
|
UTSW |
7 |
10,482,401 (GRCm39) |
missense |
probably damaging |
0.96 |
R6778:Vmn1r71
|
UTSW |
7 |
10,482,143 (GRCm39) |
missense |
probably benign |
0.02 |
R7347:Vmn1r71
|
UTSW |
7 |
10,482,428 (GRCm39) |
missense |
not run |
|
R7631:Vmn1r71
|
UTSW |
7 |
10,482,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R7795:Vmn1r71
|
UTSW |
7 |
10,482,136 (GRCm39) |
missense |
probably damaging |
0.98 |
R7820:Vmn1r71
|
UTSW |
7 |
10,482,652 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7836:Vmn1r71
|
UTSW |
7 |
10,482,277 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGCAAATGGACATACTTCGAC -3'
(R):5'- TGGATTAAAGGTGTCCTCTTTCAC -3'
Sequencing Primer
(F):5'- GGACATACTTCGACTAAATCCTTG -3'
(R):5'- TCTTTCACCATAGTCTAGAACCAG -3'
|
Posted On |
2018-06-22 |