Incidental Mutation 'R8020:Or51a8'
| ID |
617317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51a8
|
| Ensembl Gene |
ENSMUSG00000073964 |
| Gene Name |
olfactory receptor family 51 subfamily A member 8 |
| Synonyms |
Olfr570, MOR8-3, GA_x6K02T2PBJ9-5611412-5612350 |
| MMRRC Submission |
067459-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R8020 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
102549549-102550593 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102550472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 299
(I299M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098215]
[ENSMUST00000209778]
[ENSMUST00000214160]
[ENSMUST00000215773]
|
| AlphaFold |
Q8VH12 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098215
AA Change: I299M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095817
Gene: ENSMUSG00000073964
AA Change: I299M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
309 |
6.9e-113 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
174 |
7.5e-11 |
PFAM |
|
Pfam:7tm_1
|
42 |
292 |
2.1e-21 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209778
AA Change: I299M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214160
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215773
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (32/32) |
| 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 |
|---|
| A1cf |
T |
C |
19: 31,870,594 (GRCm39) |
V32A |
probably benign |
Het |
| Atp8b1 |
A |
G |
18: 64,679,084 (GRCm39) |
L799S |
probably damaging |
Het |
| Atxn7l1 |
C |
T |
12: 33,375,952 (GRCm39) |
A82V |
probably benign |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,483,989 (GRCm39) |
D201E |
probably benign |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Gje1 |
T |
C |
10: 14,593,021 (GRCm39) |
Y65C |
probably damaging |
Het |
| Gng11 |
C |
T |
6: 4,008,077 (GRCm39) |
R47C |
probably damaging |
Het |
| Hyal4 |
T |
C |
6: 24,755,995 (GRCm39) |
V71A |
probably benign |
Het |
| Ighd |
A |
T |
12: 113,378,168 (GRCm39) |
S144T |
probably benign |
Het |
| Il2rb |
T |
C |
15: 78,369,204 (GRCm39) |
Y249C |
probably benign |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Lrrc27 |
C |
T |
7: 138,816,793 (GRCm39) |
S397L |
probably damaging |
Het |
| Ms4a6d |
T |
C |
19: 11,567,472 (GRCm39) |
E143G |
probably benign |
Het |
| Mtif3 |
A |
G |
5: 146,895,713 (GRCm39) |
Y125H |
probably damaging |
Het |
| Prkcd |
G |
A |
14: 30,331,201 (GRCm39) |
T58M |
possibly damaging |
Het |
| Prm3 |
CTCTTCTTCTTCTTC |
CTCTTCTTCTTC |
16: 10,608,565 (GRCm39) |
|
probably benign |
Het |
| Prpf6 |
T |
C |
2: 181,287,363 (GRCm39) |
F583L |
probably benign |
Het |
| Prrx1 |
T |
C |
1: 163,075,831 (GRCm39) |
N245S |
probably damaging |
Het |
| Rfc1 |
A |
T |
5: 65,429,521 (GRCm39) |
I922N |
probably damaging |
Het |
| Rplp0 |
T |
C |
5: 115,698,903 (GRCm39) |
V53A |
probably benign |
Het |
| Sis |
A |
G |
3: 72,816,298 (GRCm39) |
|
probably null |
Het |
| Slc12a1 |
T |
C |
2: 125,020,022 (GRCm39) |
F411S |
possibly damaging |
Het |
| Slc30a9 |
G |
T |
5: 67,464,376 (GRCm39) |
|
probably benign |
Het |
| Slc35d2 |
A |
G |
13: 64,254,857 (GRCm39) |
I207T |
probably benign |
Het |
| Tbc1d14 |
G |
T |
5: 36,729,187 (GRCm39) |
H60N |
probably benign |
Het |
| Tmem186 |
G |
A |
16: 8,454,024 (GRCm39) |
T79I |
probably damaging |
Het |
| Tsga8 |
A |
G |
X: 82,530,704 (GRCm39) |
L135P |
unknown |
Het |
| Zfp981 |
A |
G |
4: 146,621,825 (GRCm39) |
D250G |
possibly damaging |
Het |
|
| Other mutations in Or51a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01656:Or51a8
|
APN |
7 |
102,550,472 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02307:Or51a8
|
APN |
7 |
102,550,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02705:Or51a8
|
APN |
7 |
102,550,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03028:Or51a8
|
APN |
7 |
102,550,036 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03086:Or51a8
|
APN |
7 |
102,549,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4434001:Or51a8
|
UTSW |
7 |
102,549,837 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1155:Or51a8
|
UTSW |
7 |
102,549,819 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6603:Or51a8
|
UTSW |
7 |
102,549,621 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7116:Or51a8
|
UTSW |
7 |
102,549,842 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7329:Or51a8
|
UTSW |
7 |
102,550,039 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7471:Or51a8
|
UTSW |
7 |
102,549,760 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9649:Or51a8
|
UTSW |
7 |
102,549,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTATTGCATCCCATGG -3'
(R):5'- GAAGCTTCTTCCTTCTTCAAAACAG -3'
Sequencing Primer
(F):5'- GAGGCTCAAAGCTCTTAATACTTGTG -3'
(R):5'- TCTTCCTTCTTCAAAACAGAAAAGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation