Incidental Mutation 'R1132:Vmn1r39'
| ID |
94700 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r39
|
| Ensembl Gene |
ENSMUSG00000093755 |
| Gene Name |
vomeronasal 1 receptor 39 |
| Synonyms |
Gm5993 |
| MMRRC Submission |
039205-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R1132 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
66781399-66782316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 66781428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 260
(V260I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089918]
[ENSMUST00000226217]
[ENSMUST00000226783]
[ENSMUST00000227285]
[ENSMUST00000227555]
[ENSMUST00000228008]
[ENSMUST00000228651]
[ENSMUST00000228862]
[ENSMUST00000228919]
|
| AlphaFold |
G3UWE6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089918
AA Change: V297I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000087364
Gene: ENSMUSG00000093755
AA Change: V297I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
3.5e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226217
AA Change: V297I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226783
AA Change: V297I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227285
AA Change: V260I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227555
AA Change: V297I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228008
AA Change: V260I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228651
AA Change: V260I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228862
AA Change: V297I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228919
AA Change: V260I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apba1 |
T |
C |
19: 23,894,917 (GRCm39) |
V451A |
possibly damaging |
Het |
| Atxn2l |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
7: 126,093,420 (GRCm39) |
|
probably benign |
Het |
| C3 |
C |
T |
17: 57,514,531 (GRCm39) |
|
probably null |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cd163 |
G |
T |
6: 124,286,055 (GRCm39) |
G202* |
probably null |
Het |
| Cdk8 |
A |
G |
5: 146,236,625 (GRCm39) |
T347A |
probably benign |
Het |
| Cep170 |
C |
A |
1: 176,577,603 (GRCm39) |
R1257L |
probably damaging |
Het |
| Cib1 |
A |
G |
7: 79,877,778 (GRCm39) |
F168S |
probably damaging |
Het |
| Cntnap5c |
G |
A |
17: 58,601,351 (GRCm39) |
G833D |
probably damaging |
Het |
| Dhx37 |
A |
T |
5: 125,498,103 (GRCm39) |
I702N |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,538,227 (GRCm39) |
K3586R |
possibly damaging |
Het |
| Fbxo31 |
ACGGCGCGGCG |
ACGGCGCGGCGCGGCG |
8: 122,279,015 (GRCm39) |
|
probably null |
Het |
| Fbxo31 |
CGCGG |
CGCGGAGCGG |
8: 122,279,019 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
18: 25,153,722 (GRCm39) |
|
probably benign |
Het |
| Gaa |
T |
C |
11: 119,175,885 (GRCm39) |
S953P |
probably damaging |
Het |
| Inpp5j |
T |
C |
11: 3,452,305 (GRCm39) |
E315G |
possibly damaging |
Het |
| Itsn2 |
T |
C |
12: 4,708,464 (GRCm39) |
Y840H |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 92,983,743 (GRCm39) |
E653G |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,517,639 (GRCm39) |
V1829A |
possibly damaging |
Het |
| Myh8 |
C |
T |
11: 67,187,957 (GRCm39) |
Q910* |
probably null |
Het |
| Or12d12 |
T |
C |
17: 37,610,423 (GRCm39) |
R297G |
probably benign |
Het |
| Or14a257 |
A |
T |
7: 86,138,425 (GRCm39) |
F111L |
probably benign |
Het |
| Or14j4 |
G |
T |
17: 37,921,333 (GRCm39) |
T103K |
possibly damaging |
Het |
| Or2ag17 |
A |
T |
7: 106,389,758 (GRCm39) |
I150N |
possibly damaging |
Het |
| Prdm4 |
A |
G |
10: 85,735,145 (GRCm39) |
S666P |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,585,788 (GRCm39) |
K331E |
possibly damaging |
Het |
| Rbbp6 |
A |
G |
7: 122,599,336 (GRCm39) |
|
probably benign |
Het |
| Selenbp1 |
C |
G |
3: 94,844,644 (GRCm39) |
I100M |
probably benign |
Het |
| Skint6 |
A |
G |
4: 112,755,296 (GRCm39) |
|
probably null |
Het |
| Stac3 |
T |
C |
10: 127,343,128 (GRCm39) |
S208P |
probably benign |
Het |
| Tfap2a |
T |
C |
13: 40,874,867 (GRCm39) |
|
probably null |
Het |
| Trhde |
T |
C |
10: 114,248,383 (GRCm39) |
K939E |
possibly damaging |
Het |
| Vmn1r22 |
T |
C |
6: 57,877,826 (GRCm39) |
I50M |
probably benign |
Het |
| Zdhhc25 |
T |
C |
15: 88,484,926 (GRCm39) |
L87P |
probably damaging |
Het |
| Zfp202 |
T |
C |
9: 40,122,318 (GRCm39) |
L360P |
probably benign |
Het |
|
| Other mutations in Vmn1r39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02428:Vmn1r39
|
APN |
6 |
66,781,946 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0189:Vmn1r39
|
UTSW |
6 |
66,782,181 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1803:Vmn1r39
|
UTSW |
6 |
66,781,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1839:Vmn1r39
|
UTSW |
6 |
66,782,217 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2966:Vmn1r39
|
UTSW |
6 |
66,781,715 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3747:Vmn1r39
|
UTSW |
6 |
66,781,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3748:Vmn1r39
|
UTSW |
6 |
66,781,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3756:Vmn1r39
|
UTSW |
6 |
66,781,863 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3905:Vmn1r39
|
UTSW |
6 |
66,781,479 (GRCm39) |
nonsense |
probably null |
|
|
R3912:Vmn1r39
|
UTSW |
6 |
66,782,125 (GRCm39) |
missense |
probably benign |
|
|
R4226:Vmn1r39
|
UTSW |
6 |
66,781,703 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4426:Vmn1r39
|
UTSW |
6 |
66,782,345 (GRCm39) |
splice site |
probably null |
|
|
R5493:Vmn1r39
|
UTSW |
6 |
66,781,754 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6498:Vmn1r39
|
UTSW |
6 |
66,781,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6944:Vmn1r39
|
UTSW |
6 |
66,782,205 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R7592:Vmn1r39
|
UTSW |
6 |
66,781,428 (GRCm39) |
missense |
probably benign |
|
|
R8312:Vmn1r39
|
UTSW |
6 |
66,781,841 (GRCm39) |
missense |
noncoding transcript |
|
|
R9232:Vmn1r39
|
UTSW |
6 |
66,781,580 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9517:Vmn1r39
|
UTSW |
6 |
66,782,258 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9571:Vmn1r39
|
UTSW |
6 |
66,781,572 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9580:Vmn1r39
|
UTSW |
6 |
66,781,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9629:Vmn1r39
|
UTSW |
6 |
66,781,578 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGAGCAATCGGGGCAGGA -3'
(R):5'- CTGAGAAAAGGGCCACCCAGAC -3'
Sequencing Primer
(F):5'- tggggaagcagggaggg -3'
(R):5'- AGACCATCTTGCTGCTGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation