Incidental Mutation 'R4493:Vmn1r230'
| ID |
330847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r230
|
| Ensembl Gene |
ENSMUSG00000045417 |
| Gene Name |
vomeronasal 1 receptor 230 |
| Synonyms |
V1re8 |
| MMRRC Submission |
041748-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R4493 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
21066813-21067763 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21066863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 17
(N17K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053974]
|
| AlphaFold |
Q8R2A2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053974
AA Change: N17K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000061330
Gene: ENSMUSG00000045417
AA Change: N17K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
20 |
315 |
2.4e-12 |
PFAM |
|
Pfam:V1R
|
50 |
312 |
7.9e-30 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
94% (45/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1b |
T |
C |
2: 24,542,950 (GRCm39) |
T1301A |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,962,641 (GRCm39) |
V101A |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,508,191 (GRCm39) |
E619G |
possibly damaging |
Het |
| Cfap91 |
T |
C |
16: 38,162,130 (GRCm39) |
T4A |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,230,573 (GRCm39) |
E1505G |
probably benign |
Het |
| Cngb3 |
C |
A |
4: 19,367,778 (GRCm39) |
P229Q |
probably damaging |
Het |
| Ctnna2 |
A |
G |
6: 76,958,831 (GRCm39) |
V461A |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,086,684 (GRCm39) |
D764G |
probably benign |
Het |
| Dgki |
T |
C |
6: 36,951,796 (GRCm39) |
|
probably benign |
Het |
| Dhx36 |
A |
T |
3: 62,395,925 (GRCm39) |
|
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,732,203 (GRCm39) |
I1006T |
probably benign |
Het |
| Glt8d2 |
T |
A |
10: 82,500,547 (GRCm39) |
M20L |
possibly damaging |
Het |
| Greb1 |
C |
A |
12: 16,748,611 (GRCm39) |
G1122V |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,577,650 (GRCm39) |
I2037N |
probably damaging |
Het |
| Hspa4l |
A |
G |
3: 40,722,434 (GRCm39) |
I340V |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,323,586 (GRCm39) |
K1204E |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Mcph1 |
T |
A |
8: 18,681,752 (GRCm39) |
C296* |
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Naga |
A |
G |
15: 82,216,715 (GRCm39) |
F259S |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,884,120 (GRCm39) |
E793G |
probably damaging |
Het |
| Nfkb2 |
A |
G |
19: 46,296,878 (GRCm39) |
D316G |
probably damaging |
Het |
| Pcdha4 |
A |
T |
18: 37,087,644 (GRCm39) |
Y609F |
possibly damaging |
Het |
| Pgam1 |
C |
T |
19: 41,904,215 (GRCm39) |
A104V |
possibly damaging |
Het |
| Piezo2 |
T |
C |
18: 63,247,134 (GRCm39) |
I525V |
probably damaging |
Het |
| Pold1 |
A |
G |
7: 44,187,132 (GRCm39) |
V683A |
probably damaging |
Het |
| Poteg |
T |
C |
8: 27,970,125 (GRCm39) |
V316A |
possibly damaging |
Het |
| Ppih |
A |
T |
4: 119,168,042 (GRCm39) |
N156K |
probably damaging |
Het |
| Prep |
T |
C |
10: 44,996,915 (GRCm39) |
F398L |
probably benign |
Het |
| Prlhr |
A |
T |
19: 60,455,519 (GRCm39) |
M349K |
probably benign |
Het |
| Rtp4 |
A |
T |
16: 23,428,827 (GRCm39) |
H30L |
probably benign |
Het |
| Stkld1 |
A |
G |
2: 26,836,638 (GRCm39) |
N268S |
probably benign |
Het |
| Syt6 |
A |
G |
3: 103,492,946 (GRCm39) |
E66G |
probably damaging |
Het |
| Tas2r129 |
A |
G |
6: 132,928,317 (GRCm39) |
I85V |
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tprn |
T |
C |
2: 25,158,904 (GRCm39) |
S643P |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,767,858 (GRCm39) |
V2605A |
probably benign |
Het |
| Xkrx |
T |
C |
X: 133,051,745 (GRCm39) |
N302S |
possibly damaging |
Het |
| Zfp946 |
T |
A |
17: 22,670,067 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Vmn1r230 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02590:Vmn1r230
|
APN |
17 |
21,067,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03004:Vmn1r230
|
APN |
17 |
21,067,772 (GRCm39) |
unclassified |
probably benign |
|
|
R0306:Vmn1r230
|
UTSW |
17 |
21,066,895 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0318:Vmn1r230
|
UTSW |
17 |
21,067,078 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2076:Vmn1r230
|
UTSW |
17 |
21,067,144 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2151:Vmn1r230
|
UTSW |
17 |
21,067,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2153:Vmn1r230
|
UTSW |
17 |
21,067,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2154:Vmn1r230
|
UTSW |
17 |
21,067,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2192:Vmn1r230
|
UTSW |
17 |
21,067,355 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2215:Vmn1r230
|
UTSW |
17 |
21,067,684 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2309:Vmn1r230
|
UTSW |
17 |
21,067,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4683:Vmn1r230
|
UTSW |
17 |
21,067,515 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4804:Vmn1r230
|
UTSW |
17 |
21,067,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4949:Vmn1r230
|
UTSW |
17 |
21,067,625 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5138:Vmn1r230
|
UTSW |
17 |
21,067,230 (GRCm39) |
nonsense |
probably null |
|
|
R6248:Vmn1r230
|
UTSW |
17 |
21,067,036 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7329:Vmn1r230
|
UTSW |
17 |
21,066,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7468:Vmn1r230
|
UTSW |
17 |
21,067,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7716:Vmn1r230
|
UTSW |
17 |
21,067,144 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7817:Vmn1r230
|
UTSW |
17 |
21,066,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7832:Vmn1r230
|
UTSW |
17 |
21,066,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7977:Vmn1r230
|
UTSW |
17 |
21,067,159 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7986:Vmn1r230
|
UTSW |
17 |
21,067,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7987:Vmn1r230
|
UTSW |
17 |
21,067,159 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7993:Vmn1r230
|
UTSW |
17 |
21,067,312 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8439:Vmn1r230
|
UTSW |
17 |
21,066,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8971:Vmn1r230
|
UTSW |
17 |
21,067,321 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9576:Vmn1r230
|
UTSW |
17 |
21,067,163 (GRCm39) |
nonsense |
probably null |
|
|
R9578:Vmn1r230
|
UTSW |
17 |
21,067,163 (GRCm39) |
nonsense |
probably null |
|
|
R9687:Vmn1r230
|
UTSW |
17 |
21,067,604 (GRCm39) |
nonsense |
probably null |
|
|
U24488:Vmn1r230
|
UTSW |
17 |
21,067,014 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Vmn1r230
|
UTSW |
17 |
21,067,214 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACTTCACCAGTTCACATTGG -3'
(R):5'- TCCTTTCGAGAGCATGATCAAG -3'
Sequencing Primer
(F):5'- CACCAGTTCACATTGGAATTTGTTGG -3'
(R):5'- CGAGAGCATGATCAAGATATTCAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation