Incidental Mutation 'R4015:Vmn1r214'
ID |
311915 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r214
|
Ensembl Gene |
ENSMUSG00000061829 |
Gene Name |
vomeronasal 1 receptor 214 |
Synonyms |
V1rh5 |
MMRRC Submission |
040952-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R4015 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
23218508-23219611 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 23219520 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 338
(C338Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153823
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074252]
[ENSMUST00000227236]
[ENSMUST00000227652]
|
AlphaFold |
Q8R279 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074252
AA Change: C338Y
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000073868 Gene: ENSMUSG00000061829 AA Change: C338Y
Domain | Start | End | E-Value | Type |
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
Pfam:TAS2R
|
42 |
346 |
7.5e-9 |
PFAM |
Pfam:V1R
|
75 |
337 |
5.3e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227236
AA Change: C338Y
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227652
AA Change: C338Y
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.5%
|
Validation Efficiency |
97% (38/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb6 |
C |
T |
1: 75,151,135 (GRCm39) |
|
probably null |
Het |
Cacna1e |
T |
C |
1: 154,358,331 (GRCm39) |
D580G |
probably damaging |
Het |
Ccdc66 |
A |
G |
14: 27,205,793 (GRCm39) |
I898T |
probably damaging |
Het |
Celf3 |
T |
C |
3: 94,394,505 (GRCm39) |
V202A |
probably benign |
Het |
Cfap161 |
C |
T |
7: 83,429,479 (GRCm39) |
G180S |
probably benign |
Het |
Col5a2 |
T |
C |
1: 45,442,631 (GRCm39) |
I605V |
probably benign |
Het |
Coq6 |
A |
G |
12: 84,413,671 (GRCm39) |
H67R |
probably benign |
Het |
Cyp2b19 |
T |
C |
7: 26,461,768 (GRCm39) |
F196S |
probably damaging |
Het |
Cyp4a14 |
G |
T |
4: 115,348,331 (GRCm39) |
P382Q |
probably damaging |
Het |
Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
Ddias |
T |
C |
7: 92,509,069 (GRCm39) |
K282R |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,854,990 (GRCm39) |
Q1965R |
probably benign |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
Mocs2 |
T |
C |
13: 114,957,334 (GRCm39) |
|
probably benign |
Het |
Muc5b |
G |
A |
7: 141,417,367 (GRCm39) |
V3438M |
probably benign |
Het |
Myo3a |
A |
G |
2: 22,468,182 (GRCm39) |
R479G |
possibly damaging |
Het |
Nalcn |
T |
G |
14: 123,723,799 (GRCm39) |
E422A |
probably damaging |
Het |
Pcdh17 |
T |
C |
14: 84,684,547 (GRCm39) |
V338A |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rbm12b1 |
T |
C |
4: 12,145,491 (GRCm39) |
S488P |
probably benign |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Srcap |
C |
A |
7: 127,124,595 (GRCm39) |
P255Q |
probably benign |
Het |
Sult6b2 |
T |
A |
6: 142,735,988 (GRCm39) |
N202I |
possibly damaging |
Het |
Tcf7l1 |
A |
G |
6: 72,613,382 (GRCm39) |
|
probably benign |
Het |
Tef |
T |
C |
15: 81,707,806 (GRCm39) |
V261A |
probably damaging |
Het |
Trio |
C |
T |
15: 27,744,187 (GRCm39) |
V2582I |
possibly damaging |
Het |
Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
Uggt2 |
T |
C |
14: 119,263,845 (GRCm39) |
N1062D |
possibly damaging |
Het |
Unc13b |
G |
A |
4: 43,237,801 (GRCm39) |
G3441R |
probably damaging |
Het |
Wdr70 |
A |
T |
15: 8,108,698 (GRCm39) |
C149* |
probably null |
Het |
Zfp867 |
A |
G |
11: 59,354,520 (GRCm39) |
F270L |
probably damaging |
Het |
|
Other mutations in Vmn1r214 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01072:Vmn1r214
|
APN |
13 |
23,219,300 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL01759:Vmn1r214
|
APN |
13 |
23,218,662 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02000:Vmn1r214
|
APN |
13 |
23,219,270 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0115:Vmn1r214
|
UTSW |
13 |
23,219,464 (GRCm39) |
nonsense |
probably null |
|
R0468:Vmn1r214
|
UTSW |
13 |
23,219,423 (GRCm39) |
missense |
probably benign |
0.04 |
R0481:Vmn1r214
|
UTSW |
13 |
23,219,464 (GRCm39) |
nonsense |
probably null |
|
R0574:Vmn1r214
|
UTSW |
13 |
23,218,663 (GRCm39) |
missense |
probably benign |
0.19 |
R0686:Vmn1r214
|
UTSW |
13 |
23,218,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R1931:Vmn1r214
|
UTSW |
13 |
23,219,494 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3893:Vmn1r214
|
UTSW |
13 |
23,218,811 (GRCm39) |
missense |
probably benign |
0.00 |
R4013:Vmn1r214
|
UTSW |
13 |
23,219,520 (GRCm39) |
missense |
probably benign |
0.21 |
R4014:Vmn1r214
|
UTSW |
13 |
23,219,520 (GRCm39) |
missense |
probably benign |
0.21 |
R4670:Vmn1r214
|
UTSW |
13 |
23,219,141 (GRCm39) |
missense |
probably benign |
0.01 |
R5091:Vmn1r214
|
UTSW |
13 |
23,219,571 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5817:Vmn1r214
|
UTSW |
13 |
23,219,491 (GRCm39) |
missense |
probably damaging |
0.98 |
R6504:Vmn1r214
|
UTSW |
13 |
23,219,610 (GRCm39) |
makesense |
probably null |
|
R7096:Vmn1r214
|
UTSW |
13 |
23,219,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R7141:Vmn1r214
|
UTSW |
13 |
23,218,839 (GRCm39) |
missense |
probably benign |
0.41 |
R7293:Vmn1r214
|
UTSW |
13 |
23,218,839 (GRCm39) |
missense |
probably benign |
0.41 |
R7759:Vmn1r214
|
UTSW |
13 |
23,218,631 (GRCm39) |
missense |
not run |
|
R8805:Vmn1r214
|
UTSW |
13 |
23,219,273 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8810:Vmn1r214
|
UTSW |
13 |
23,219,082 (GRCm39) |
missense |
probably benign |
0.36 |
R9383:Vmn1r214
|
UTSW |
13 |
23,219,095 (GRCm39) |
missense |
probably benign |
0.00 |
R9660:Vmn1r214
|
UTSW |
13 |
23,219,007 (GRCm39) |
missense |
probably benign |
0.00 |
R9711:Vmn1r214
|
UTSW |
13 |
23,218,508 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
R9728:Vmn1r214
|
UTSW |
13 |
23,219,007 (GRCm39) |
missense |
probably benign |
0.00 |
X0002:Vmn1r214
|
UTSW |
13 |
23,218,971 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Vmn1r214
|
UTSW |
13 |
23,218,665 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCAAGCTTCTCTACAGAACTC -3'
(R):5'- TAACCTCAGTGCAAGGCTTG -3'
Sequencing Primer
(F):5'- AGAACTCCCCCTGAGCTGAGAG -3'
(R):5'- CCTCAGTGCAAGGCTTGAGTAAC -3'
|
Posted On |
2015-04-29 |