Incidental Mutation 'IGL02699:Or6c2b'
| ID |
304061 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or6c2b
|
| Ensembl Gene |
ENSMUSG00000042801 |
| Gene Name |
olfactory receptor family 6 subfamily C member 2B |
| Synonyms |
Olfr769, MOR114-14, GA_x6K02T2PULF-10797876-10796938 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL02699
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128947354-128948292 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 128947640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 218
(Y218S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050915]
[ENSMUST00000215453]
[ENSMUST00000216906]
|
| AlphaFold |
Q8K501 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050915
AA Change: Y218S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000059078
Gene: ENSMUSG00000042801
AA Change: Y218S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
309 |
1.2e-47 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
4.9e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215453
AA Change: Y218S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216906
AA Change: Y218S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
T |
C |
10: 77,157,853 (GRCm39) |
D198G |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,047,263 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
T |
A |
9: 78,579,271 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
T |
G |
4: 47,284,471 (GRCm39) |
|
probably benign |
Het |
| Ctdp1 |
T |
C |
18: 80,493,400 (GRCm39) |
D365G |
probably benign |
Het |
| Daam1 |
T |
C |
12: 72,035,717 (GRCm39) |
F971L |
probably damaging |
Het |
| Dalrd3 |
T |
A |
9: 108,448,088 (GRCm39) |
|
probably benign |
Het |
| Dnaaf5 |
T |
C |
5: 139,139,105 (GRCm39) |
|
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fbxo8 |
A |
G |
8: 57,043,223 (GRCm39) |
T236A |
possibly damaging |
Het |
| Ighv1-12 |
C |
A |
12: 114,579,736 (GRCm39) |
E29* |
probably null |
Het |
| Il17re |
A |
G |
6: 113,445,880 (GRCm39) |
D397G |
probably damaging |
Het |
| Ing5 |
A |
G |
1: 93,744,164 (GRCm39) |
N157D |
possibly damaging |
Het |
| Ipo11 |
T |
C |
13: 107,025,905 (GRCm39) |
E395G |
possibly damaging |
Het |
| Letm1 |
T |
C |
5: 33,902,492 (GRCm39) |
E599G |
possibly damaging |
Het |
| Mansc1 |
T |
C |
6: 134,587,317 (GRCm39) |
T287A |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,070,851 (GRCm39) |
N131D |
possibly damaging |
Het |
| Or10ak13 |
G |
T |
4: 118,639,349 (GRCm39) |
C144* |
probably null |
Het |
| Or13p3 |
T |
C |
4: 118,567,395 (GRCm39) |
S264P |
probably benign |
Het |
| Or8k38 |
A |
T |
2: 86,488,691 (GRCm39) |
I37N |
probably benign |
Het |
| Osm |
T |
C |
11: 4,189,723 (GRCm39) |
V169A |
possibly damaging |
Het |
| Phkg2 |
C |
T |
7: 127,181,722 (GRCm39) |
A278V |
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,489,195 (GRCm39) |
M709K |
probably damaging |
Het |
| Pzp |
A |
T |
6: 128,464,364 (GRCm39) |
|
probably null |
Het |
| Ric1 |
T |
C |
19: 29,499,957 (GRCm39) |
L12P |
possibly damaging |
Het |
| Skor1 |
C |
A |
9: 63,047,328 (GRCm39) |
|
probably benign |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Syncrip |
A |
G |
9: 88,338,607 (GRCm39) |
|
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,459,259 (GRCm39) |
E57G |
possibly damaging |
Het |
| Tmc1 |
C |
T |
19: 20,809,714 (GRCm39) |
|
probably null |
Het |
| Tmem59 |
T |
C |
4: 107,049,735 (GRCm39) |
M140T |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,774,433 (GRCm39) |
T2158A |
probably damaging |
Het |
|
| Other mutations in Or6c2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Or6c2b
|
APN |
10 |
128,947,893 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02556:Or6c2b
|
APN |
10 |
128,947,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0503:Or6c2b
|
UTSW |
10 |
128,947,671 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0677:Or6c2b
|
UTSW |
10 |
128,947,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1697:Or6c2b
|
UTSW |
10 |
128,947,737 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2992:Or6c2b
|
UTSW |
10 |
128,947,404 (GRCm39) |
nonsense |
probably null |
|
|
R3922:Or6c2b
|
UTSW |
10 |
128,947,482 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7084:Or6c2b
|
UTSW |
10 |
128,947,416 (GRCm39) |
nonsense |
probably null |
|
|
R7301:Or6c2b
|
UTSW |
10 |
128,947,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7488:Or6c2b
|
UTSW |
10 |
128,947,605 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9083:Or6c2b
|
UTSW |
10 |
128,947,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
RF021:Or6c2b
|
UTSW |
10 |
128,948,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Or6c2b
|
UTSW |
10 |
128,947,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation