Incidental Mutation 'R1053:Or8b12'
| ID |
94124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8b12
|
| Ensembl Gene |
ENSMUSG00000063350 |
| Gene Name |
olfactory receptor family 8 subfamily B member 12 |
| Synonyms |
GA_x6K02T2PVTD-31428850-31429782, MOR161-2, Olfr874 |
| MMRRC Submission |
039143-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R1053 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
37656596-37658402 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37658131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 234
(S234P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115004]
[ENSMUST00000216982]
|
| AlphaFold |
Q7TRE6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115004
AA Change: S234P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110656
Gene: ENSMUSG00000063350
AA Change: S234P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
307 |
5.9e-49 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
6.2e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216982
AA Change: S234P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| 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 |
|---|
| Adam25 |
A |
T |
8: 41,207,768 (GRCm39) |
N345Y |
probably benign |
Het |
| Ampd3 |
G |
A |
7: 110,387,887 (GRCm39) |
G107S |
probably damaging |
Het |
| Bcas3 |
T |
A |
11: 85,448,236 (GRCm39) |
I632N |
probably benign |
Het |
| Cald1 |
G |
T |
6: 34,732,577 (GRCm39) |
R83L |
probably damaging |
Het |
| Cds2 |
T |
A |
2: 132,147,180 (GRCm39) |
L420Q |
probably damaging |
Het |
| Col6a1 |
A |
T |
10: 76,556,800 (GRCm39) |
Y266N |
probably damaging |
Het |
| Ctps1 |
A |
G |
4: 120,400,919 (GRCm39) |
|
probably null |
Het |
| Enam |
A |
G |
5: 88,651,878 (GRCm39) |
N1129S |
possibly damaging |
Het |
| Erc1 |
T |
C |
6: 119,773,887 (GRCm39) |
E356G |
probably damaging |
Het |
| Fbxl4 |
T |
A |
4: 22,427,166 (GRCm39) |
V469E |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gm11568 |
A |
G |
11: 99,748,887 (GRCm39) |
T31A |
unknown |
Het |
| Grm2 |
T |
G |
9: 106,525,356 (GRCm39) |
Y453S |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,008,561 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
A |
G |
5: 37,291,593 (GRCm39) |
I681V |
possibly damaging |
Het |
| Lair1 |
A |
G |
7: 4,031,784 (GRCm39) |
S108P |
probably damaging |
Het |
| Lrp12 |
A |
C |
15: 39,741,377 (GRCm39) |
F446C |
probably damaging |
Het |
| Ncoa6 |
C |
T |
2: 155,275,960 (GRCm39) |
R95Q |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,005,793 (GRCm39) |
T614A |
probably benign |
Het |
| Or1b1 |
T |
C |
2: 36,995,476 (GRCm39) |
Y62C |
probably damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,166 (GRCm39) |
Y261* |
probably null |
Het |
| Ppp1r12a |
T |
C |
10: 108,098,212 (GRCm39) |
S311P |
probably damaging |
Het |
| Rsph3a |
C |
A |
17: 8,164,736 (GRCm39) |
P32Q |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,902,752 (GRCm39) |
T1602A |
probably benign |
Het |
| Svil |
C |
G |
18: 5,056,690 (GRCm39) |
P521R |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,652,509 (GRCm39) |
Y1580C |
probably damaging |
Het |
| Vwce |
T |
C |
19: 10,641,463 (GRCm39) |
F730L |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zc2hc1c |
A |
G |
12: 85,343,330 (GRCm39) |
D489G |
probably damaging |
Het |
|
| Other mutations in Or8b12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Or8b12
|
APN |
9 |
37,657,685 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02349:Or8b12
|
APN |
9 |
37,657,502 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02799:Or8b12
|
UTSW |
9 |
37,657,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0498:Or8b12
|
UTSW |
9 |
37,657,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Or8b12
|
UTSW |
9 |
37,657,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1777:Or8b12
|
UTSW |
9 |
37,657,607 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1862:Or8b12
|
UTSW |
9 |
37,658,264 (GRCm39) |
missense |
probably benign |
|
|
R1907:Or8b12
|
UTSW |
9 |
37,657,729 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4524:Or8b12
|
UTSW |
9 |
37,658,162 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4731:Or8b12
|
UTSW |
9 |
37,657,831 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4746:Or8b12
|
UTSW |
9 |
37,657,453 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4768:Or8b12
|
UTSW |
9 |
37,658,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5130:Or8b12
|
UTSW |
9 |
37,657,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5406:Or8b12
|
UTSW |
9 |
37,657,943 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5546:Or8b12
|
UTSW |
9 |
37,657,820 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5882:Or8b12
|
UTSW |
9 |
37,657,928 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5946:Or8b12
|
UTSW |
9 |
37,658,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6226:Or8b12
|
UTSW |
9 |
37,657,433 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6705:Or8b12
|
UTSW |
9 |
37,658,030 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6965:Or8b12
|
UTSW |
9 |
37,657,433 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R8008:Or8b12
|
UTSW |
9 |
37,658,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8743:Or8b12
|
UTSW |
9 |
37,658,174 (GRCm39) |
missense |
probably benign |
|
|
R9066:Or8b12
|
UTSW |
9 |
37,657,871 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9068:Or8b12
|
UTSW |
9 |
37,657,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9756:Or8b12
|
UTSW |
9 |
37,658,314 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGTTATGTTGCCATCTGTAACCC -3'
(R):5'- TGACCAGTCACACCACTGTAGCTC -3'
Sequencing Primer
(F):5'- GGGAACCTCATGAATCTGACTTTC -3'
(R):5'- ACCACTGTAGCTCATGATACTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation