Incidental Mutation 'R0939:Or10a3b'
| ID |
81309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10a3b
|
| Ensembl Gene |
ENSMUSG00000062434 |
| Gene Name |
olfactory receptor family 10 subfamily A member 3B |
| Synonyms |
GA_x6K02T2PBJ9-11176324-11175380, MOR268-2, Olfr516 |
| MMRRC Submission |
039078-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.225)
|
| Stock # |
R0939 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
108444271-108445215 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108444440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 259
(Y259F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150359
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071410]
[ENSMUST00000216092]
[ENSMUST00000217279]
|
| AlphaFold |
Q8VFZ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071410
AA Change: Y259F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071358
Gene: ENSMUSG00000062434
AA Change: Y259F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
6.2e-60 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
1.9e-5 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
9.2e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208389
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216092
AA Change: Y259F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217279
AA Change: Y259F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.7%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
T |
11: 119,902,969 (GRCm39) |
V419M |
probably damaging |
Het |
| Cdcp1 |
A |
G |
9: 123,012,755 (GRCm39) |
V264A |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,438,801 (GRCm39) |
D326G |
probably null |
Het |
| Dach1 |
A |
G |
14: 98,153,360 (GRCm39) |
V436A |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,024,142 (GRCm39) |
G1870S |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,283,464 (GRCm39) |
H5324N |
probably damaging |
Het |
| Eapp |
TTTCTTCTTCTTCTTCTT |
TTTCTTCTTCTTCTT |
12: 54,732,734 (GRCm39) |
|
probably benign |
Het |
| Esd |
C |
A |
14: 74,973,467 (GRCm39) |
H21N |
probably damaging |
Het |
| Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
| Igdcc4 |
T |
A |
9: 65,038,755 (GRCm39) |
|
probably null |
Het |
| Mug1 |
A |
T |
6: 121,861,308 (GRCm39) |
I1310F |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
| Or10h5 |
T |
C |
17: 33,434,635 (GRCm39) |
K231E |
possibly damaging |
Het |
| Or9g19 |
T |
A |
2: 85,600,997 (GRCm39) |
L284* |
probably null |
Het |
| Pcdh17 |
A |
G |
14: 84,685,195 (GRCm39) |
D554G |
probably damaging |
Het |
| Plcxd3 |
T |
A |
15: 4,546,344 (GRCm39) |
L116* |
probably null |
Het |
| Prss1 |
A |
C |
6: 41,440,522 (GRCm39) |
D199A |
probably damaging |
Het |
| Rbms3 |
C |
T |
9: 116,939,028 (GRCm39) |
|
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rreb1 |
A |
G |
13: 38,116,207 (GRCm39) |
M1189V |
probably benign |
Het |
| Slc25a39 |
T |
C |
11: 102,295,877 (GRCm39) |
E118G |
probably damaging |
Het |
| Slfn5 |
G |
T |
11: 82,852,164 (GRCm39) |
M763I |
probably benign |
Het |
| Speer4f2 |
A |
G |
5: 17,579,402 (GRCm39) |
E67G |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,704,636 (GRCm39) |
|
probably null |
Het |
| Spocd1 |
A |
T |
4: 129,842,663 (GRCm39) |
D26V |
possibly damaging |
Het |
| Ssh1 |
A |
G |
5: 114,108,497 (GRCm39) |
L50P |
probably damaging |
Het |
| Tle1 |
A |
G |
4: 72,036,771 (GRCm39) |
L728P |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,741,336 (GRCm39) |
|
probably null |
Het |
| Tubb1 |
G |
A |
2: 174,297,549 (GRCm39) |
E53K |
probably damaging |
Het |
| Vmn2r71 |
A |
T |
7: 85,272,889 (GRCm39) |
T568S |
possibly damaging |
Het |
|
| Other mutations in Or10a3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01540:Or10a3b
|
APN |
7 |
108,444,887 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0583:Or10a3b
|
UTSW |
7 |
108,444,621 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1037:Or10a3b
|
UTSW |
7 |
108,445,191 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1631:Or10a3b
|
UTSW |
7 |
108,445,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1691:Or10a3b
|
UTSW |
7 |
108,444,348 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5153:Or10a3b
|
UTSW |
7 |
108,444,906 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6114:Or10a3b
|
UTSW |
7 |
108,444,593 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6305:Or10a3b
|
UTSW |
7 |
108,444,761 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6808:Or10a3b
|
UTSW |
7 |
108,444,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6896:Or10a3b
|
UTSW |
7 |
108,444,750 (GRCm39) |
missense |
probably benign |
|
|
R7544:Or10a3b
|
UTSW |
7 |
108,444,528 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8998:Or10a3b
|
UTSW |
7 |
108,445,017 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCCTCAACAAATCAACCTGTGTGT -3'
(R):5'- GGGTGTTTAGCTTCCCCTACTGTGA -3'
Sequencing Primer
(F):5'- CAACCTGTGTGTAAAGTCACTTTTC -3'
(R):5'- TGAAGTCTATGCCTTCACAGG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation