Incidental Mutation 'R3688:Vmn1r17'
ID |
269613 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r17
|
Ensembl Gene |
ENSMUSG00000115644 |
Gene Name |
vomeronasal 1 receptor 17 |
Synonyms |
V1rc16 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R3688 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
57337452-57338363 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57337544 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 225
(T225S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153928
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176395]
[ENSMUST00000227186]
[ENSMUST00000227966]
[ENSMUST00000228156]
[ENSMUST00000228294]
[ENSMUST00000228342]
|
AlphaFold |
Q8R2D8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176395
AA Change: T274S
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000135746 Gene: ENSMUSG00000093411 AA Change: T274S
Domain | Start | End | E-Value | Type |
Pfam:V1R
|
28 |
293 |
1.4e-53 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227186
AA Change: T274S
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227966
AA Change: T274S
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228156
AA Change: T225S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228294
AA Change: T225S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228342
AA Change: T274S
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,415,968 (GRCm39) |
I687T |
possibly damaging |
Het |
A1cf |
T |
A |
19: 31,888,569 (GRCm39) |
F100I |
probably damaging |
Het |
Adam12 |
A |
T |
7: 133,566,525 (GRCm39) |
Y308* |
probably null |
Het |
Adam3 |
T |
C |
8: 25,193,864 (GRCm39) |
T383A |
probably benign |
Het |
Adcy8 |
T |
C |
15: 64,743,556 (GRCm39) |
T351A |
probably damaging |
Het |
Atp11c |
T |
C |
X: 59,327,004 (GRCm39) |
Y431C |
probably benign |
Het |
Atp7b |
T |
C |
8: 22,494,246 (GRCm39) |
H956R |
probably damaging |
Het |
Bptf |
C |
A |
11: 106,965,024 (GRCm39) |
R1275L |
probably benign |
Het |
Cept1 |
G |
T |
3: 106,427,331 (GRCm39) |
N236K |
probably benign |
Het |
Col15a1 |
C |
T |
4: 47,258,689 (GRCm39) |
T360I |
probably benign |
Het |
Efcab6 |
G |
A |
15: 83,755,479 (GRCm39) |
Q1323* |
probably null |
Het |
Efl1 |
T |
A |
7: 82,412,178 (GRCm39) |
S856T |
probably benign |
Het |
Eftud2 |
T |
C |
11: 102,735,027 (GRCm39) |
E624G |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,171,927 (GRCm39) |
T2929A |
probably damaging |
Het |
Gm4884 |
A |
G |
7: 40,692,910 (GRCm39) |
H293R |
possibly damaging |
Het |
Hdac10 |
C |
T |
15: 89,007,767 (GRCm39) |
|
probably null |
Het |
Il17rd |
C |
A |
14: 26,761,105 (GRCm39) |
N15K |
probably null |
Het |
Kcnt1 |
C |
T |
2: 25,784,371 (GRCm39) |
T258I |
probably damaging |
Het |
Kif5a |
T |
G |
10: 127,078,643 (GRCm39) |
N334T |
probably damaging |
Het |
Ksr2 |
A |
G |
5: 117,693,044 (GRCm39) |
Q164R |
probably damaging |
Het |
Map4k4 |
T |
A |
1: 40,024,331 (GRCm39) |
|
probably null |
Het |
Naa80 |
T |
C |
9: 107,460,549 (GRCm39) |
V148A |
possibly damaging |
Het |
Or9a2 |
G |
T |
6: 41,749,160 (GRCm39) |
Y24* |
probably null |
Het |
Pard3b |
A |
G |
1: 62,518,728 (GRCm39) |
T938A |
probably benign |
Het |
Pcdhga6 |
T |
A |
18: 37,841,594 (GRCm39) |
I438N |
probably damaging |
Het |
Pfkm |
T |
A |
15: 98,029,398 (GRCm39) |
N697K |
probably benign |
Het |
Prr23a4 |
A |
T |
9: 98,785,517 (GRCm39) |
M61L |
probably benign |
Het |
Pus10 |
T |
C |
11: 23,617,334 (GRCm39) |
F16L |
probably benign |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rangap1 |
A |
T |
15: 81,602,963 (GRCm39) |
M154K |
possibly damaging |
Het |
Slc25a17 |
A |
G |
15: 81,211,485 (GRCm39) |
F177S |
probably benign |
Het |
Slc34a2 |
G |
A |
5: 53,222,174 (GRCm39) |
G289S |
probably benign |
Het |
Strn4 |
A |
G |
7: 16,556,506 (GRCm39) |
Y123C |
probably damaging |
Het |
Swt1 |
A |
T |
1: 151,267,240 (GRCm39) |
M647K |
probably damaging |
Het |
Trpm5 |
A |
G |
7: 142,632,193 (GRCm39) |
V872A |
probably damaging |
Het |
Ubqln4 |
T |
C |
3: 88,470,466 (GRCm39) |
S313P |
probably damaging |
Het |
Vmn2r75 |
T |
A |
7: 85,797,629 (GRCm39) |
H728L |
probably damaging |
Het |
Vps33a |
T |
C |
5: 123,673,274 (GRCm39) |
|
probably null |
Het |
Vwde |
T |
A |
6: 13,186,891 (GRCm39) |
R865S |
probably damaging |
Het |
Zfp408 |
T |
A |
2: 91,476,777 (GRCm39) |
M126L |
probably benign |
Het |
|
Other mutations in Vmn1r17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00943:Vmn1r17
|
APN |
6 |
57,338,185 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02073:Vmn1r17
|
APN |
6 |
57,337,787 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03117:Vmn1r17
|
APN |
6 |
57,337,501 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03168:Vmn1r17
|
APN |
6 |
57,337,583 (GRCm39) |
missense |
probably benign |
0.01 |
R0472:Vmn1r17
|
UTSW |
6 |
57,338,304 (GRCm39) |
missense |
probably benign |
|
R0590:Vmn1r17
|
UTSW |
6 |
57,337,999 (GRCm39) |
missense |
probably benign |
0.01 |
R0648:Vmn1r17
|
UTSW |
6 |
57,337,460 (GRCm39) |
missense |
probably damaging |
0.98 |
R1025:Vmn1r17
|
UTSW |
6 |
57,338,240 (GRCm39) |
missense |
probably benign |
0.05 |
R1545:Vmn1r17
|
UTSW |
6 |
57,338,317 (GRCm39) |
missense |
probably benign |
0.01 |
R2035:Vmn1r17
|
UTSW |
6 |
57,337,573 (GRCm39) |
missense |
probably benign |
0.13 |
R2507:Vmn1r17
|
UTSW |
6 |
57,338,244 (GRCm39) |
missense |
probably damaging |
0.99 |
R2508:Vmn1r17
|
UTSW |
6 |
57,337,855 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3084:Vmn1r17
|
UTSW |
6 |
57,337,768 (GRCm39) |
missense |
probably damaging |
0.99 |
R3696:Vmn1r17
|
UTSW |
6 |
57,337,523 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4436:Vmn1r17
|
UTSW |
6 |
57,337,719 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4741:Vmn1r17
|
UTSW |
6 |
57,338,337 (GRCm39) |
nonsense |
probably null |
|
R4989:Vmn1r17
|
UTSW |
6 |
57,337,460 (GRCm39) |
missense |
possibly damaging |
0.47 |
R5013:Vmn1r17
|
UTSW |
6 |
57,337,828 (GRCm39) |
missense |
probably benign |
0.05 |
R5133:Vmn1r17
|
UTSW |
6 |
57,337,828 (GRCm39) |
missense |
probably benign |
0.05 |
R5134:Vmn1r17
|
UTSW |
6 |
57,337,828 (GRCm39) |
missense |
probably benign |
0.05 |
R5162:Vmn1r17
|
UTSW |
6 |
57,337,828 (GRCm39) |
missense |
probably benign |
0.05 |
R5184:Vmn1r17
|
UTSW |
6 |
57,337,828 (GRCm39) |
missense |
probably benign |
0.05 |
R5185:Vmn1r17
|
UTSW |
6 |
57,337,828 (GRCm39) |
missense |
probably benign |
0.05 |
R5831:Vmn1r17
|
UTSW |
6 |
57,337,999 (GRCm39) |
missense |
probably benign |
0.01 |
R6487:Vmn1r17
|
UTSW |
6 |
57,338,209 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7436:Vmn1r17
|
UTSW |
6 |
57,337,862 (GRCm39) |
missense |
probably benign |
0.03 |
R7600:Vmn1r17
|
UTSW |
6 |
57,337,906 (GRCm39) |
missense |
probably benign |
0.01 |
R8944:Vmn1r17
|
UTSW |
6 |
57,338,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGGCACAACACTCATAGG -3'
(R):5'- AACCACCTGAGAGCATCTCCTG -3'
Sequencing Primer
(F):5'- CATTTCAAATGCTATCCCAAAAGG -3'
(R):5'- CCTGAGAGCATCTCCTGAGAAAAG -3'
|
Posted On |
2015-02-19 |