Incidental Mutation 'R3697:Vmn1r216'
| ID |
269868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r216
|
| Ensembl Gene |
ENSMUSG00000116057 |
| Gene Name |
vomeronasal 1 receptor 216 |
| Synonyms |
V1ri10 |
| MMRRC Submission |
040691-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.238)
|
| Stock # |
R3697 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
23283319-23284215 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 23283849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 177
(W177*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080253]
[ENSMUST00000228389]
[ENSMUST00000228802]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000080253
AA Change: W177*
|
| SMART Domains |
Protein: ENSMUSP00000079139
Gene: ENSMUSG00000116057
AA Change: W177*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
5 |
295 |
2.7e-7 |
PFAM |
|
Pfam:V1R
|
35 |
297 |
4.3e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119967
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227317
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228389
AA Change: W177*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228802
AA Change: W177*
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh4a1 |
A |
G |
4: 139,369,562 (GRCm39) |
H371R |
possibly damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,761,521 (GRCm39) |
D259G |
unknown |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,366,157 (GRCm39) |
D805G |
probably benign |
Het |
| Cnmd |
C |
A |
14: 79,875,421 (GRCm39) |
R333L |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,518,958 (GRCm39) |
I79N |
unknown |
Het |
| Emc1 |
T |
G |
4: 139,092,697 (GRCm39) |
S546A |
possibly damaging |
Het |
| Ermard |
T |
C |
17: 15,273,638 (GRCm39) |
S408P |
probably benign |
Het |
| Gls |
C |
T |
1: 52,238,923 (GRCm39) |
M364I |
possibly damaging |
Het |
| Gm16380 |
A |
G |
9: 53,791,736 (GRCm39) |
|
noncoding transcript |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Il6st |
T |
G |
13: 112,640,916 (GRCm39) |
D897E |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,953,551 (GRCm39) |
T233A |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lemd3 |
CCCTCCTCCTCCTCCTCCTCC |
CCCTCCTCCTCCTCCTCC |
10: 120,814,432 (GRCm39) |
|
probably benign |
Het |
| Miga1 |
T |
C |
3: 152,028,073 (GRCm39) |
N152S |
probably damaging |
Het |
| Nckipsd |
G |
A |
9: 108,688,320 (GRCm39) |
G83S |
probably damaging |
Het |
| Nedd4 |
T |
C |
9: 72,647,469 (GRCm39) |
F728L |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,661,344 (GRCm39) |
C748Y |
probably damaging |
Het |
| Nop56 |
C |
A |
2: 130,119,507 (GRCm39) |
N57K |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,165,646 (GRCm39) |
N197S |
probably benign |
Het |
| Pglyrp3 |
T |
A |
3: 91,935,481 (GRCm39) |
C244S |
probably damaging |
Het |
| Rgs22 |
C |
T |
15: 36,100,038 (GRCm39) |
V226I |
probably benign |
Het |
| Rtp3 |
T |
A |
9: 110,816,262 (GRCm39) |
R96S |
possibly damaging |
Het |
| Serpinb8 |
A |
T |
1: 107,534,876 (GRCm39) |
K316* |
probably null |
Het |
| Sp6 |
C |
A |
11: 96,912,580 (GRCm39) |
P98T |
possibly damaging |
Het |
| Vmn1r15 |
A |
T |
6: 57,235,321 (GRCm39) |
D63V |
possibly damaging |
Het |
| Zfp414 |
CAAACTCTTCCGA |
CAAACTCTTCCGAAACTCTTCCGA |
17: 33,849,551 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Vmn1r216 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Vmn1r216
|
APN |
13 |
23,283,574 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01524:Vmn1r216
|
APN |
13 |
23,283,519 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01673:Vmn1r216
|
APN |
13 |
23,283,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02474:Vmn1r216
|
APN |
13 |
23,283,647 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02867:Vmn1r216
|
APN |
13 |
23,283,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02889:Vmn1r216
|
APN |
13 |
23,283,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03289:Vmn1r216
|
APN |
13 |
23,284,182 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0113:Vmn1r216
|
UTSW |
13 |
23,283,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2008:Vmn1r216
|
UTSW |
13 |
23,283,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2191:Vmn1r216
|
UTSW |
13 |
23,283,403 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2960:Vmn1r216
|
UTSW |
13 |
23,284,103 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3522:Vmn1r216
|
UTSW |
13 |
23,283,544 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4024:Vmn1r216
|
UTSW |
13 |
23,284,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Vmn1r216
|
UTSW |
13 |
23,283,506 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5088:Vmn1r216
|
UTSW |
13 |
23,283,473 (GRCm39) |
nonsense |
probably null |
|
|
R5412:Vmn1r216
|
UTSW |
13 |
23,284,081 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5905:Vmn1r216
|
UTSW |
13 |
23,283,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6006:Vmn1r216
|
UTSW |
13 |
23,283,928 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6020:Vmn1r216
|
UTSW |
13 |
23,284,105 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6213:Vmn1r216
|
UTSW |
13 |
23,283,339 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6897:Vmn1r216
|
UTSW |
13 |
23,283,445 (GRCm39) |
nonsense |
probably null |
|
|
R7483:Vmn1r216
|
UTSW |
13 |
23,283,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7487:Vmn1r216
|
UTSW |
13 |
23,284,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8213:Vmn1r216
|
UTSW |
13 |
23,283,695 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8490:Vmn1r216
|
UTSW |
13 |
23,283,979 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8752:Vmn1r216
|
UTSW |
13 |
23,283,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9017:Vmn1r216
|
UTSW |
13 |
23,284,081 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9547:Vmn1r216
|
UTSW |
13 |
23,283,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9639:Vmn1r216
|
UTSW |
13 |
23,283,518 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTTATCTAGAAAGGGTTGCCC -3'
(R):5'- ACATGTCATGAGGGTGAGAACC -3'
Sequencing Primer
(F):5'- ATGGTCCAGGCTGTCACCATC -3'
(R):5'- CCTCTGGGTAGCTCTGATTTCTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation