Incidental Mutation 'R0574:Vmn1r214'
| ID |
46585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r214
|
| Ensembl Gene |
ENSMUSG00000061829 |
| Gene Name |
vomeronasal 1 receptor 214 |
| Synonyms |
V1rh5 |
| MMRRC Submission |
038764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R0574 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
23218508-23219611 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23218663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 52
(I52M)
|
| 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: I52M
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000073868
Gene: ENSMUSG00000061829
AA Change: I52M
| 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: I52M
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227652
AA Change: I52M
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700099C18Rik |
T |
C |
17: 95,068,919 (GRCm39) |
|
noncoding transcript |
Het |
| Abca14 |
A |
G |
7: 119,823,720 (GRCm39) |
I416V |
probably damaging |
Het |
| Actrt3 |
T |
C |
3: 30,653,829 (GRCm39) |
E57G |
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,696,372 (GRCm39) |
S262P |
probably damaging |
Het |
| Aldh1a2 |
T |
C |
9: 71,188,990 (GRCm39) |
|
probably null |
Het |
| Arhgap29 |
A |
G |
3: 121,801,274 (GRCm39) |
I670V |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,967,353 (GRCm39) |
D1009G |
probably damaging |
Het |
| Ddr2 |
G |
T |
1: 169,809,532 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,270,734 (GRCm39) |
|
probably null |
Het |
| Itga1 |
A |
C |
13: 115,103,097 (GRCm39) |
S1111R |
probably damaging |
Het |
| Klk1b27 |
T |
A |
7: 43,705,525 (GRCm39) |
L199Q |
probably damaging |
Het |
| Lhx3 |
T |
C |
2: 26,091,323 (GRCm39) |
S329G |
probably benign |
Het |
| Man2b1 |
T |
G |
8: 85,823,405 (GRCm39) |
M913R |
probably benign |
Het |
| Mmp15 |
G |
A |
8: 96,092,029 (GRCm39) |
A80T |
possibly damaging |
Het |
| Mpo |
A |
T |
11: 87,686,902 (GRCm39) |
Y177F |
probably damaging |
Het |
| Mynn |
T |
C |
3: 30,670,888 (GRCm39) |
S587P |
probably benign |
Het |
| Nfkbib |
C |
T |
7: 28,461,213 (GRCm39) |
V145I |
probably benign |
Het |
| Or1o3 |
G |
T |
17: 37,573,772 (GRCm39) |
S261Y |
probably damaging |
Het |
| Or4k15 |
A |
T |
14: 50,364,139 (GRCm39) |
Y35F |
probably damaging |
Het |
| Or6k8-ps1 |
T |
C |
1: 173,979,132 (GRCm39) |
F17L |
probably benign |
Het |
| Pole2 |
G |
A |
12: 69,258,231 (GRCm39) |
|
probably benign |
Het |
| Ppargc1b |
C |
T |
18: 61,435,810 (GRCm39) |
G906D |
probably benign |
Het |
| Prl8a2 |
T |
A |
13: 27,532,883 (GRCm39) |
C32S |
probably damaging |
Het |
| Rhno1 |
A |
T |
6: 128,335,113 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
T |
C |
3: 95,681,669 (GRCm39) |
E408G |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,746,555 (GRCm39) |
H1999L |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,038,821 (GRCm39) |
|
probably benign |
Het |
| Snx3 |
T |
A |
10: 42,378,383 (GRCm39) |
N19K |
probably benign |
Het |
| Stx8 |
C |
T |
11: 67,864,078 (GRCm39) |
T46M |
probably damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,492,547 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,846,228 (GRCm39) |
S855P |
possibly damaging |
Het |
| Usp54 |
A |
G |
14: 20,606,322 (GRCm39) |
V1338A |
probably benign |
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 |
|
|
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 |
|
R4015: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'- AACATGCGTCTACCACTGCCTC -3'
(R):5'- ATGGGCCACCCTCTCCATGTAAAC -3'
Sequencing Primer
(F):5'- TGCCTCTTGAACACAAGAAAATG -3'
(R):5'- TCCATGTAAACAATGATCTTACAGCC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation