Incidental Mutation 'R0798:Vmn1r212'
| ID |
76498 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r212
|
| Ensembl Gene |
ENSMUSG00000071490 |
| Gene Name |
vomeronasal 1 receptor 212 |
| Synonyms |
V1rh18 |
| MMRRC Submission |
038978-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R0798 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
23067212-23068375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23067868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 155
(N155S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095960]
|
| AlphaFold |
Q8R268 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095960
AA Change: N155S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093655
Gene: ENSMUSG00000071490
AA Change: N155S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
2 |
292 |
1.2e-7 |
PFAM |
|
Pfam:V1R
|
34 |
297 |
5.4e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158990
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226672
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226881
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| 4930579C12Rik |
T |
A |
9: 89,034,880 (GRCm39) |
|
noncoding transcript |
Het |
| Baz2a |
T |
A |
10: 127,962,192 (GRCm39) |
|
probably benign |
Het |
| Bcar3 |
T |
C |
3: 122,318,948 (GRCm39) |
V695A |
probably benign |
Het |
| C130074G19Rik |
G |
A |
1: 184,614,873 (GRCm39) |
|
probably benign |
Het |
| Cmas |
T |
C |
6: 142,710,382 (GRCm39) |
V167A |
probably damaging |
Het |
| Crppa |
G |
A |
12: 36,571,998 (GRCm39) |
R302H |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,928,343 (GRCm39) |
E234G |
probably damaging |
Het |
| Gopc |
C |
T |
10: 52,234,907 (GRCm39) |
G79S |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,785,431 (GRCm39) |
|
probably null |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kcnq5 |
A |
G |
1: 22,031,399 (GRCm39) |
|
probably null |
Het |
| Lpp |
G |
T |
16: 24,790,622 (GRCm39) |
G29* |
probably null |
Het |
| Ly6g6e |
T |
C |
17: 35,297,017 (GRCm39) |
F86S |
probably benign |
Het |
| Myo5c |
T |
C |
9: 75,165,266 (GRCm39) |
F358S |
probably damaging |
Het |
| Nlgn1 |
A |
G |
3: 25,488,410 (GRCm39) |
Y613H |
probably benign |
Het |
| Or4k38 |
T |
C |
2: 111,165,689 (GRCm39) |
I245V |
probably benign |
Het |
| Or7e178 |
A |
T |
9: 20,225,495 (GRCm39) |
Y232* |
probably null |
Het |
| Plekhn1 |
T |
A |
4: 156,312,720 (GRCm39) |
D46V |
probably damaging |
Het |
| Ptp4a1 |
A |
T |
1: 30,984,005 (GRCm39) |
|
probably benign |
Het |
| Rab23 |
A |
T |
1: 33,773,908 (GRCm39) |
I123F |
probably damaging |
Het |
| Samd4b |
G |
A |
7: 28,101,048 (GRCm39) |
|
probably benign |
Het |
| Shisa4 |
G |
A |
1: 135,300,886 (GRCm39) |
|
probably benign |
Het |
| Slc39a11 |
C |
T |
11: 113,414,330 (GRCm39) |
A90T |
probably benign |
Het |
| Tas1r2 |
T |
C |
4: 139,397,024 (GRCm39) |
Y788H |
probably damaging |
Het |
| Tasor |
T |
A |
14: 27,198,593 (GRCm39) |
F1308L |
probably damaging |
Het |
| Tial1 |
C |
T |
7: 128,045,602 (GRCm39) |
M327I |
probably benign |
Het |
| Ubr2 |
C |
T |
17: 47,280,102 (GRCm39) |
|
probably benign |
Het |
| Utp4 |
T |
C |
8: 107,648,858 (GRCm39) |
S630P |
probably benign |
Het |
| Zmym6 |
C |
T |
4: 126,997,316 (GRCm39) |
P312S |
probably benign |
Het |
|
| Other mutations in Vmn1r212 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01131:Vmn1r212
|
APN |
13 |
23,067,329 (GRCm39) |
missense |
unknown |
|
|
IGL01678:Vmn1r212
|
APN |
13 |
23,068,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1237:Vmn1r212
|
UTSW |
13 |
23,067,638 (GRCm39) |
nonsense |
probably null |
|
|
R1331:Vmn1r212
|
UTSW |
13 |
23,067,562 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2064:Vmn1r212
|
UTSW |
13 |
23,068,285 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2356:Vmn1r212
|
UTSW |
13 |
23,068,120 (GRCm39) |
nonsense |
probably null |
|
|
R2846:Vmn1r212
|
UTSW |
13 |
23,068,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3896:Vmn1r212
|
UTSW |
13 |
23,068,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3937:Vmn1r212
|
UTSW |
13 |
23,067,358 (GRCm39) |
missense |
unknown |
|
|
R4722:Vmn1r212
|
UTSW |
13 |
23,068,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5233:Vmn1r212
|
UTSW |
13 |
23,067,304 (GRCm39) |
missense |
unknown |
|
|
R6043:Vmn1r212
|
UTSW |
13 |
23,068,258 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7199:Vmn1r212
|
UTSW |
13 |
23,067,731 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7413:Vmn1r212
|
UTSW |
13 |
23,067,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7840:Vmn1r212
|
UTSW |
13 |
23,067,323 (GRCm39) |
missense |
unknown |
|
|
R8054:Vmn1r212
|
UTSW |
13 |
23,067,935 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8844:Vmn1r212
|
UTSW |
13 |
23,067,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8929:Vmn1r212
|
UTSW |
13 |
23,067,494 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9538:Vmn1r212
|
UTSW |
13 |
23,067,451 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9612:Vmn1r212
|
UTSW |
13 |
23,067,443 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Z1088:Vmn1r212
|
UTSW |
13 |
23,067,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACACTTTGAGCAGCTCTCAGC -3'
(R):5'- TTGTTTACCTGGAGAGGATGGCCC -3'
Sequencing Primer
(F):5'- AGCAGCTCTCAGCTCAGG -3'
(R):5'- TCCATCTGCACCAGCAGTC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation