Incidental Mutation 'R2344:Or6c76b'
| ID |
245928 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6c76b
|
| Ensembl Gene |
ENSMUSG00000052818 |
| Gene Name |
olfactory receptor family 6 subfamily C member 76B |
| Synonyms |
GA_x6K02T2PULF-11535078-11536010, MOR108-3, Olfr813 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R2344 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
129692389-129693321 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129692410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 8
(T8S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064893]
[ENSMUST00000204622]
|
| AlphaFold |
Q7TRH5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064893
AA Change: T8S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000063431
Gene: ENSMUSG00000052818
AA Change: T8S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
1.2e-49 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
3.9e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204622
AA Change: T8S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000145260
Gene: ENSMUSG00000052818
AA Change: T8S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
44 |
321 |
3.5e-49 |
PFAM |
|
Pfam:7tm_1
|
54 |
303 |
1.3e-21 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.4%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4b |
A |
G |
13: 14,328,075 (GRCm39) |
Q247R |
probably benign |
Het |
| Bend7 |
A |
T |
2: 4,793,345 (GRCm39) |
D383V |
probably damaging |
Het |
| Calm4 |
A |
G |
13: 3,888,298 (GRCm39) |
K135E |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,152,503 (GRCm39) |
D2412G |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,805,736 (GRCm39) |
T1057A |
unknown |
Het |
| Dpf3 |
T |
G |
12: 83,397,594 (GRCm39) |
D90A |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,280,490 (GRCm39) |
M348K |
probably benign |
Het |
| Elmo3 |
T |
C |
8: 106,035,793 (GRCm39) |
Y558H |
probably damaging |
Het |
| Epha3 |
C |
T |
16: 63,472,746 (GRCm39) |
V79I |
possibly damaging |
Het |
| Ercc5 |
T |
C |
1: 44,206,329 (GRCm39) |
M414T |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,094,318 (GRCm39) |
I389M |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,820,257 (GRCm39) |
F5330S |
possibly damaging |
Het |
| Grin2a |
T |
C |
16: 9,481,099 (GRCm39) |
I533V |
probably benign |
Het |
| Gsdma2 |
T |
C |
11: 98,546,417 (GRCm39) |
L167P |
probably damaging |
Het |
| Gys2 |
A |
T |
6: 142,391,748 (GRCm39) |
F505I |
probably damaging |
Het |
| Il6 |
A |
T |
5: 30,219,854 (GRCm39) |
M77L |
probably benign |
Het |
| Pgm2l1 |
A |
G |
7: 99,909,115 (GRCm39) |
I194V |
probably damaging |
Het |
| Rbpjl |
G |
T |
2: 164,256,312 (GRCm39) |
V433L |
probably damaging |
Het |
| Rps10 |
C |
G |
17: 27,853,081 (GRCm39) |
R96P |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Supt16 |
T |
C |
14: 52,415,575 (GRCm39) |
T387A |
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,036,414 (GRCm39) |
T298M |
probably benign |
Het |
| Usp49 |
T |
C |
17: 47,983,828 (GRCm39) |
F278L |
probably damaging |
Het |
| Zfp729b |
A |
G |
13: 67,740,352 (GRCm39) |
C648R |
probably damaging |
Het |
|
| Other mutations in Or6c76b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01102:Or6c76b
|
APN |
10 |
129,692,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01650:Or6c76b
|
APN |
10 |
129,692,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01734:Or6c76b
|
APN |
10 |
129,692,671 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL01909:Or6c76b
|
APN |
10 |
129,692,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0256:Or6c76b
|
UTSW |
10 |
129,692,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Or6c76b
|
UTSW |
10 |
129,693,070 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0924:Or6c76b
|
UTSW |
10 |
129,692,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1345:Or6c76b
|
UTSW |
10 |
129,692,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Or6c76b
|
UTSW |
10 |
129,693,100 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1462:Or6c76b
|
UTSW |
10 |
129,693,100 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3851:Or6c76b
|
UTSW |
10 |
129,693,016 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4486:Or6c76b
|
UTSW |
10 |
129,692,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Or6c76b
|
UTSW |
10 |
129,692,896 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5397:Or6c76b
|
UTSW |
10 |
129,692,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5644:Or6c76b
|
UTSW |
10 |
129,693,296 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5925:Or6c76b
|
UTSW |
10 |
129,692,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6224:Or6c76b
|
UTSW |
10 |
129,693,061 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7839:Or6c76b
|
UTSW |
10 |
129,692,899 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9260:Or6c76b
|
UTSW |
10 |
129,692,458 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9401:Or6c76b
|
UTSW |
10 |
129,693,298 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCTCTAATAATGCAAGGAGAC -3'
(R):5'- TGTCCTTAGTTAAGATGCTGACC -3'
Sequencing Primer
(F):5'- ATGACACAGGAAAAGTATAATGTCC -3'
(R):5'- GATGCTGACCAAAAACCTAGGGTTAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation