Incidental Mutation 'R3696:Vmn1r17'
| ID |
269816 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r17
|
| Ensembl Gene |
ENSMUSG00000115644 |
| Gene Name |
vomeronasal 1 receptor 17 |
| Synonyms |
V1rc16 |
| MMRRC Submission |
040690-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R3696 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
57337452-57338363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57337523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 232
(I232F)
|
| 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: I281F
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000135746
Gene: ENSMUSG00000093411
AA Change: I281F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
1.4e-53 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227186
AA Change: I281F
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227966
AA Change: I281F
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228156
AA Change: I232F
PolyPhen 2
Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228294
AA Change: I232F
PolyPhen 2
Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228342
AA Change: I281F
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh4a1 |
A |
G |
4: 139,369,562 (GRCm39) |
H371R |
possibly damaging |
Het |
| Anapc4 |
A |
G |
5: 53,019,351 (GRCm39) |
S562G |
probably null |
Het |
| Arfgef2 |
T |
A |
2: 166,695,220 (GRCm39) |
L531* |
probably null |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,033,552 (GRCm39) |
M1010V |
probably damaging |
Het |
| Chga |
A |
G |
12: 102,527,724 (GRCm39) |
E126G |
probably damaging |
Het |
| Ckap5 |
C |
A |
2: 91,450,511 (GRCm39) |
T2014K |
probably benign |
Het |
| Dlat |
C |
T |
9: 50,562,176 (GRCm39) |
V283I |
possibly damaging |
Het |
| Emc1 |
T |
G |
4: 139,092,697 (GRCm39) |
S546A |
possibly damaging |
Het |
| Ephx1 |
G |
A |
1: 180,817,516 (GRCm39) |
S385L |
probably benign |
Het |
| Ermard |
T |
C |
17: 15,273,638 (GRCm39) |
S408P |
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,806,473 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
C |
8: 111,329,911 (GRCm39) |
S4882P |
probably damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Il6st |
T |
G |
13: 112,640,916 (GRCm39) |
D897E |
probably benign |
Het |
| Ipo5 |
A |
C |
14: 121,159,574 (GRCm39) |
K134T |
probably benign |
Het |
| Itgb8 |
A |
G |
12: 119,140,746 (GRCm39) |
V377A |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,572,532 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
T |
G |
4: 123,350,155 (GRCm39) |
T2027P |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,235,870 (GRCm39) |
I678L |
possibly damaging |
Het |
| Nfu1 |
A |
G |
6: 86,992,634 (GRCm39) |
T83A |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,661,344 (GRCm39) |
C748Y |
probably damaging |
Het |
| Or1af1 |
C |
T |
2: 37,110,188 (GRCm39) |
P229L |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,360 (GRCm39) |
T103A |
probably benign |
Het |
| Prm3 |
T |
C |
16: 10,608,672 (GRCm39) |
M28V |
possibly damaging |
Het |
| Rgs22 |
C |
T |
15: 36,100,038 (GRCm39) |
V226I |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Septin4 |
A |
T |
11: 87,476,060 (GRCm39) |
T212S |
possibly damaging |
Het |
| Trdn |
T |
A |
10: 33,181,028 (GRCm39) |
|
probably null |
Het |
| Trim2 |
T |
A |
3: 84,098,158 (GRCm39) |
Y390F |
probably benign |
Het |
| Zfp30 |
A |
T |
7: 29,492,815 (GRCm39) |
K356N |
probably 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 |
|
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'- CATATATGCTGGCACAACACTCATAG -3'
(R):5'- TCTCCTGAGAAAAGAGCCACTC -3'
Sequencing Primer
(F):5'- CATTTCAAATGCTATCCCAAAAGG -3'
(R):5'- ACTCAGGCTATCTTGCTGCTGG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation