Incidental Mutation 'R6487:Vmn1r17'
| ID |
517475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r17
|
| Ensembl Gene |
ENSMUSG00000115644 |
| Gene Name |
vomeronasal 1 receptor 17 |
| Synonyms |
V1rc16 |
| MMRRC Submission |
044619-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.218)
|
| Stock # |
R6487 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
57337452-57338363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57338209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 3
(M3K)
|
| 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: M52K
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135746
Gene: ENSMUSG00000093411
AA Change: M52K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
1.4e-53 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227186
AA Change: M52K
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227966
AA Change: M52K
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228156
AA Change: M3K
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228294
AA Change: M3K
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228342
AA Change: M52K
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,616,446 (GRCm39) |
Y963H |
possibly damaging |
Het |
| Alpk2 |
T |
C |
18: 65,399,254 (GRCm39) |
N2108S |
possibly damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,252,528 (GRCm39) |
S641P |
probably damaging |
Het |
| Bptf |
C |
T |
11: 106,968,552 (GRCm39) |
V981I |
probably damaging |
Het |
| Cntrl |
A |
T |
2: 35,012,694 (GRCm39) |
K277N |
possibly damaging |
Het |
| Cops5 |
T |
C |
1: 10,108,004 (GRCm39) |
T12A |
probably benign |
Het |
| Cyp2c37 |
A |
T |
19: 39,983,025 (GRCm39) |
T205S |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,808,284 (GRCm39) |
V3485A |
probably damaging |
Het |
| Ifna6 |
A |
T |
4: 88,745,743 (GRCm39) |
N31Y |
probably damaging |
Het |
| Irgm1 |
C |
A |
11: 48,756,777 (GRCm39) |
A345S |
probably benign |
Het |
| Kics2 |
T |
C |
10: 121,581,446 (GRCm39) |
L13P |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,221,976 (GRCm39) |
T218A |
probably damaging |
Het |
| Mroh2b |
G |
T |
15: 4,976,721 (GRCm39) |
D1225Y |
probably damaging |
Het |
| Npepl1 |
A |
G |
2: 173,953,525 (GRCm39) |
E152G |
probably benign |
Het |
| Oog2 |
A |
G |
4: 143,923,055 (GRCm39) |
E440G |
possibly damaging |
Het |
| Or4c35 |
A |
T |
2: 89,808,182 (GRCm39) |
D20V |
probably benign |
Het |
| Or4k38 |
T |
C |
2: 111,166,012 (GRCm39) |
D137G |
probably benign |
Het |
| Or5d41 |
A |
G |
2: 88,054,870 (GRCm39) |
S169P |
possibly damaging |
Het |
| Or5h26 |
A |
T |
16: 58,988,536 (GRCm39) |
|
probably null |
Het |
| Or8b54 |
A |
G |
9: 38,686,731 (GRCm39) |
Y60C |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,321,563 (GRCm39) |
V2620A |
probably benign |
Het |
| Rims4 |
A |
T |
2: 163,706,817 (GRCm39) |
F187Y |
possibly damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Shisa9 |
C |
T |
16: 12,062,475 (GRCm39) |
T232I |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,214,736 (GRCm39) |
I650N |
probably damaging |
Het |
| Tpst2 |
T |
C |
5: 112,455,989 (GRCm39) |
L176P |
probably damaging |
Het |
| U2surp |
A |
T |
9: 95,359,565 (GRCm39) |
M650K |
probably damaging |
Het |
| Vmn1r55 |
A |
G |
7: 5,149,554 (GRCm39) |
S290P |
probably benign |
Het |
| Vmn2r102 |
G |
A |
17: 19,898,169 (GRCm39) |
E395K |
probably damaging |
Het |
| Wapl |
T |
A |
14: 34,414,249 (GRCm39) |
H370Q |
probably damaging |
Het |
| Xab2 |
T |
C |
8: 3,663,879 (GRCm39) |
S347G |
possibly damaging |
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 |
|
R3688:Vmn1r17
|
UTSW |
6 |
57,337,544 (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 |
|
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'- TTTGGGACTGATAGTGACAGC -3'
(R):5'- GAGACAAGGCAATCTTCAACTAG -3'
Sequencing Primer
(F):5'- CTGATAGTGACAGCCTGGAACAC -3'
(R):5'- CAAGGCAATCTTCAACTAGTAAGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation