Incidental Mutation 'R0750:Vmn1r16'
| ID |
70278 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r16
|
| Ensembl Gene |
ENSMUSG00000115792 |
| Gene Name |
vomeronasal 1 receptor 16 |
| Synonyms |
V1rc29 |
| MMRRC Submission |
038930-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R0750 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
57297724-57300620 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57299812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 270
(Y270C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177267]
[ENSMUST00000227168]
[ENSMUST00000227283]
[ENSMUST00000228356]
|
| AlphaFold |
K7N775 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177267
AA Change: Y270C
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000134873
Gene: ENSMUSG00000093523
AA Change: Y270C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
3.4e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227168
AA Change: Y270C
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227283
AA Change: Y270C
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228356
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
T |
4: 156,251,394 (GRCm39) |
L1974* |
probably null |
Het |
| Brd4 |
T |
C |
17: 32,439,226 (GRCm39) |
E418G |
probably benign |
Het |
| Brip1 |
G |
A |
11: 85,952,325 (GRCm39) |
S1152L |
possibly damaging |
Het |
| Btrc |
T |
G |
19: 45,491,585 (GRCm39) |
F81C |
probably damaging |
Het |
| Cep85l |
A |
G |
10: 53,157,642 (GRCm39) |
L585P |
probably damaging |
Het |
| Cfap46 |
T |
G |
7: 139,234,586 (GRCm39) |
E671D |
probably damaging |
Het |
| Dsg1a |
T |
C |
18: 20,473,210 (GRCm39) |
L761P |
probably benign |
Het |
| Ece2 |
G |
T |
16: 20,451,800 (GRCm39) |
V396L |
probably benign |
Het |
| Garin4 |
G |
A |
1: 190,896,682 (GRCm39) |
|
probably benign |
Het |
| Hs6st3 |
CGGAGGAGGAGGAGGAGGA |
CGGAGGAGGAGGAGGA |
14: 119,376,119 (GRCm39) |
|
probably benign |
Het |
| Id2 |
A |
G |
12: 25,145,670 (GRCm39) |
S114P |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,861,839 (GRCm39) |
F1133S |
probably damaging |
Het |
| Izumo1 |
T |
C |
7: 45,275,707 (GRCm39) |
|
probably null |
Het |
| Krt35 |
A |
G |
11: 99,986,979 (GRCm39) |
S12P |
possibly damaging |
Het |
| Or5a1 |
T |
C |
19: 12,098,077 (GRCm39) |
|
probably null |
Het |
| Pkdrej |
G |
T |
15: 85,702,275 (GRCm39) |
D1220E |
probably benign |
Het |
| Pramel32 |
A |
G |
4: 88,545,905 (GRCm39) |
F479S |
probably benign |
Het |
| Sema3a |
G |
A |
5: 13,607,092 (GRCm39) |
|
probably null |
Het |
| Tmed6 |
T |
C |
8: 107,788,401 (GRCm39) |
Y182C |
possibly damaging |
Het |
| Tmem174 |
G |
T |
13: 98,773,787 (GRCm39) |
N14K |
probably damaging |
Het |
| Tmem87b |
T |
C |
2: 128,660,356 (GRCm39) |
L33P |
possibly damaging |
Het |
| Vps37d |
A |
T |
5: 135,103,294 (GRCm39) |
L116Q |
possibly damaging |
Het |
| Zfp592 |
A |
G |
7: 80,674,493 (GRCm39) |
S486G |
probably benign |
Het |
|
| Other mutations in Vmn1r16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01350:Vmn1r16
|
APN |
6 |
57,299,716 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02027:Vmn1r16
|
APN |
6 |
57,300,044 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02804:Vmn1r16
|
APN |
6 |
57,300,467 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03329:Vmn1r16
|
APN |
6 |
57,300,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03392:Vmn1r16
|
APN |
6 |
57,299,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I1329:Vmn1r16
|
UTSW |
6 |
57,300,519 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4581001:Vmn1r16
|
UTSW |
6 |
57,299,858 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1137:Vmn1r16
|
UTSW |
6 |
57,300,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1239:Vmn1r16
|
UTSW |
6 |
57,300,618 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R1796:Vmn1r16
|
UTSW |
6 |
57,300,256 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1858:Vmn1r16
|
UTSW |
6 |
57,299,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Vmn1r16
|
UTSW |
6 |
57,299,885 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1946:Vmn1r16
|
UTSW |
6 |
57,299,885 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3832:Vmn1r16
|
UTSW |
6 |
57,300,212 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4801:Vmn1r16
|
UTSW |
6 |
57,300,175 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4802:Vmn1r16
|
UTSW |
6 |
57,300,175 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6658:Vmn1r16
|
UTSW |
6 |
57,300,091 (GRCm39) |
nonsense |
probably null |
|
|
R6981:Vmn1r16
|
UTSW |
6 |
57,300,473 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6991:Vmn1r16
|
UTSW |
6 |
57,299,869 (GRCm39) |
nonsense |
probably null |
|
|
R7915:Vmn1r16
|
UTSW |
6 |
57,300,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8214:Vmn1r16
|
UTSW |
6 |
57,300,424 (GRCm39) |
missense |
noncoding transcript |
|
|
R8459:Vmn1r16
|
UTSW |
6 |
57,300,347 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8531:Vmn1r16
|
UTSW |
6 |
57,299,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8676:Vmn1r16
|
UTSW |
6 |
57,299,814 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9096:Vmn1r16
|
UTSW |
6 |
57,300,250 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9097:Vmn1r16
|
UTSW |
6 |
57,300,250 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0061:Vmn1r16
|
UTSW |
6 |
57,300,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGTAGGCACTGGGAATATACAATGC -3'
(R):5'- GATGAAGGTCACTAAATCCTGCTCACTC -3'
Sequencing Primer
(F):5'- CAATGCATGCATGCTGACAC -3'
(R):5'- ATATCTTGTTCAGGCATCAGAGGC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation