Incidental Mutation 'R1016:Or8b36'
| ID |
96328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8b36
|
| Ensembl Gene |
ENSMUSG00000094461 |
| Gene Name |
olfactory receptor family 8 subfamily B member 36 |
| Synonyms |
MOR162-6, Olfr883, GA_x6K02T2PVTD-31705144-31706073 |
| MMRRC Submission |
039120-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R1016 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
37937104-37938033 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37937987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 295
(V295A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072974]
|
| AlphaFold |
Q8VF64 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072974
AA Change: V295A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072741
Gene: ENSMUSG00000094461
AA Change: V295A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
1.6e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
288 |
3.7e-24 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.6%
- 20x: 84.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ceacam20 |
T |
A |
7: 19,710,227 (GRCm39) |
H6Q |
probably null |
Het |
| Clstn1 |
T |
C |
4: 149,731,286 (GRCm39) |
I866T |
probably benign |
Het |
| Cntnap1 |
T |
C |
11: 101,068,333 (GRCm39) |
V86A |
probably damaging |
Het |
| Crtc1 |
A |
T |
8: 70,844,769 (GRCm39) |
Y351* |
probably null |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cyp2j12 |
C |
T |
4: 96,001,102 (GRCm39) |
|
probably null |
Het |
| Dmrt2 |
A |
T |
19: 25,652,938 (GRCm39) |
K183N |
probably damaging |
Het |
| Fancl |
G |
T |
11: 26,337,195 (GRCm39) |
|
probably benign |
Het |
| Fbxo40 |
G |
A |
16: 36,789,539 (GRCm39) |
Q524* |
probably null |
Het |
| Flcn |
T |
C |
11: 59,686,691 (GRCm39) |
|
probably null |
Het |
| Gm19965 |
T |
A |
1: 116,749,031 (GRCm39) |
C237* |
probably null |
Het |
| Hpf1 |
A |
G |
8: 61,348,678 (GRCm39) |
Y131C |
possibly damaging |
Het |
| Mdh1 |
A |
G |
11: 21,509,769 (GRCm39) |
L202P |
probably benign |
Het |
| Mpl |
T |
C |
4: 118,306,110 (GRCm39) |
Y310C |
probably damaging |
Het |
| Mtus1 |
A |
G |
8: 41,503,063 (GRCm39) |
V784A |
probably benign |
Het |
| Myg1 |
T |
C |
15: 102,242,786 (GRCm39) |
I159T |
possibly damaging |
Het |
| Nans |
T |
C |
4: 46,500,716 (GRCm39) |
Y203H |
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,402,295 (GRCm39) |
C709Y |
probably damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,660 (GRCm39) |
Y192C |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,187,832 (GRCm39) |
N118D |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,330,442 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,378,135 (GRCm39) |
T454A |
possibly damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,000,973 (GRCm39) |
L1021P |
probably damaging |
Het |
| Pvr |
T |
C |
7: 19,643,142 (GRCm39) |
I364V |
probably benign |
Het |
| Serpina5 |
A |
G |
12: 104,071,582 (GRCm39) |
I396M |
probably damaging |
Het |
| Sgcb |
A |
C |
5: 73,797,183 (GRCm39) |
H192Q |
probably benign |
Het |
| Slc4a9 |
C |
A |
18: 36,664,478 (GRCm39) |
H379N |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,715,729 (GRCm39) |
D22G |
probably benign |
Het |
| Trim34a |
T |
C |
7: 103,897,167 (GRCm39) |
V77A |
probably benign |
Het |
| Ttc7b |
T |
C |
12: 100,369,617 (GRCm39) |
E384G |
probably null |
Het |
| Vmn2r16 |
G |
A |
5: 109,487,754 (GRCm39) |
G209D |
probably damaging |
Het |
|
| Other mutations in Or8b36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00980:Or8b36
|
APN |
9 |
37,937,107 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02092:Or8b36
|
APN |
9 |
37,937,917 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02351:Or8b36
|
APN |
9 |
37,937,332 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02358:Or8b36
|
APN |
9 |
37,937,332 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02807:Or8b36
|
APN |
9 |
37,937,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0972:Or8b36
|
UTSW |
9 |
37,937,856 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1818:Or8b36
|
UTSW |
9 |
37,937,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4466:Or8b36
|
UTSW |
9 |
37,937,479 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4871:Or8b36
|
UTSW |
9 |
37,937,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5977:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R5979:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6026:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6027:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6029:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6035:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6035:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6053:Or8b36
|
UTSW |
9 |
37,937,837 (GRCm39) |
frame shift |
probably null |
|
|
R6092:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6106:Or8b36
|
UTSW |
9 |
37,937,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6131:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6132:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6133:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6134:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6153:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6251:Or8b36
|
UTSW |
9 |
37,937,842 (GRCm39) |
frame shift |
probably null |
|
|
R6251:Or8b36
|
UTSW |
9 |
37,937,841 (GRCm39) |
frame shift |
probably null |
|
|
R6251:Or8b36
|
UTSW |
9 |
37,937,833 (GRCm39) |
frame shift |
probably null |
|
|
R6251:Or8b36
|
UTSW |
9 |
37,937,844 (GRCm39) |
frame shift |
probably null |
|
|
R6300:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6301:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6305:Or8b36
|
UTSW |
9 |
37,937,838 (GRCm39) |
frame shift |
probably null |
|
|
R6305:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6307:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6312:Or8b36
|
UTSW |
9 |
37,937,842 (GRCm39) |
frame shift |
probably null |
|
|
R6312:Or8b36
|
UTSW |
9 |
37,937,837 (GRCm39) |
frame shift |
probably null |
|
|
R6312:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6312:Or8b36
|
UTSW |
9 |
37,937,845 (GRCm39) |
frame shift |
probably null |
|
|
R6312:Or8b36
|
UTSW |
9 |
37,937,843 (GRCm39) |
nonsense |
probably null |
|
|
R6813:Or8b36
|
UTSW |
9 |
37,937,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7134:Or8b36
|
UTSW |
9 |
37,937,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7775:Or8b36
|
UTSW |
9 |
37,937,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7778:Or8b36
|
UTSW |
9 |
37,937,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7984:Or8b36
|
UTSW |
9 |
37,937,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8326:Or8b36
|
UTSW |
9 |
37,938,014 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9154:Or8b36
|
UTSW |
9 |
37,937,690 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCCCATGTGATTGCTGTTTCACT -3'
(R):5'- TCAGGATTTCCAAAGAGAAAGGCTACCT -3'
Sequencing Primer
(F):5'- GTTTCACTTTTCTTTGGAGCTGC -3'
(R):5'- ttcccccacccacccac -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation