Incidental Mutation 'R1004:Or8g2b'
| ID |
97970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8g2b
|
| Ensembl Gene |
ENSMUSG00000093934 |
| Gene Name |
olfactory receptor family 8 subfamily G member 2B |
| Synonyms |
GA_x6K02T2PVTD-33539896-33540819, MOR171-13, Olfr971 |
| MMRRC Submission |
039114-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R1004 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
39750732-39751655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39751276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 182
(F182S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075467]
[ENSMUST00000214242]
|
| AlphaFold |
Q9EQ96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075467
AA Change: F182S
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000074913
Gene: ENSMUSG00000093934
AA Change: F182S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
2.6e-53 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
9.5e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214242
AA Change: F182S
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (41/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,042,780 (GRCm39) |
I423T |
possibly damaging |
Het |
| Agbl3 |
A |
T |
6: 34,780,386 (GRCm39) |
E453V |
probably damaging |
Het |
| Agxt |
A |
G |
1: 93,063,421 (GRCm39) |
M108V |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,337,034 (GRCm39) |
I831T |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,414,586 (GRCm39) |
M1215T |
unknown |
Het |
| Cd163 |
G |
T |
6: 124,302,306 (GRCm39) |
D957Y |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,656,370 (GRCm39) |
D200G |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,902,558 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,888,671 (GRCm39) |
|
probably benign |
Het |
| Dlx6 |
C |
T |
6: 6,863,665 (GRCm39) |
Q96* |
probably null |
Het |
| Dpp4 |
T |
A |
2: 62,162,984 (GRCm39) |
Q754L |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,653,550 (GRCm39) |
T100A |
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,677,544 (GRCm39) |
V779M |
possibly damaging |
Het |
| Gatm |
C |
T |
2: 122,440,141 (GRCm39) |
|
probably benign |
Het |
| Gpc2 |
A |
G |
5: 138,276,487 (GRCm39) |
L213P |
probably damaging |
Het |
| Hook1 |
A |
C |
4: 95,910,524 (GRCm39) |
N713H |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,516,642 (GRCm39) |
I178K |
possibly damaging |
Het |
| Mettl9 |
G |
A |
7: 120,675,460 (GRCm39) |
V287I |
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,378,353 (GRCm39) |
T3774I |
probably benign |
Het |
| Nup58 |
C |
A |
14: 60,484,930 (GRCm39) |
|
probably benign |
Het |
| Nxf1 |
A |
T |
19: 8,741,681 (GRCm39) |
T119S |
probably benign |
Het |
| Oaz3 |
T |
A |
3: 94,342,350 (GRCm39) |
H102L |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,407,789 (GRCm39) |
Q680L |
probably benign |
Het |
| Poli |
T |
A |
18: 70,658,509 (GRCm39) |
Q75L |
probably benign |
Het |
| Ppp2r3d |
C |
T |
9: 101,075,829 (GRCm39) |
|
probably null |
Het |
| Prr30 |
A |
G |
14: 101,436,529 (GRCm39) |
L11P |
probably damaging |
Het |
| Ptchd4 |
A |
T |
17: 42,688,493 (GRCm39) |
Y345F |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,579,757 (GRCm39) |
N1233S |
probably benign |
Het |
| Serpinb9f |
TA |
"TTTNA,T" |
13: 33,518,225 (GRCm39) |
|
probably benign |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Skp1 |
G |
C |
11: 52,128,207 (GRCm39) |
|
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,320,786 (GRCm39) |
K528R |
probably damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,595,763 (GRCm39) |
N35S |
probably damaging |
Het |
| Tcstv2c |
T |
A |
13: 120,616,558 (GRCm39) |
D132E |
probably benign |
Het |
| Xrcc5 |
A |
G |
1: 72,422,937 (GRCm39) |
|
probably benign |
Het |
| Zfp235 |
T |
A |
7: 23,840,169 (GRCm39) |
L266Q |
probably damaging |
Het |
| Zfp600 |
T |
A |
4: 146,133,103 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or8g2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00743:Or8g2b
|
APN |
9 |
39,751,002 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00920:Or8g2b
|
APN |
9 |
39,751,230 (GRCm39) |
missense |
probably benign |
|
|
IGL01759:Or8g2b
|
APN |
9 |
39,750,907 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02867:Or8g2b
|
APN |
9 |
39,751,533 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02889:Or8g2b
|
APN |
9 |
39,751,533 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02900:Or8g2b
|
APN |
9 |
39,751,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03333:Or8g2b
|
APN |
9 |
39,751,308 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0831:Or8g2b
|
UTSW |
9 |
39,751,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Or8g2b
|
UTSW |
9 |
39,751,581 (GRCm39) |
missense |
probably benign |
0.39 |
|
R3900:Or8g2b
|
UTSW |
9 |
39,750,698 (GRCm39) |
splice site |
probably null |
|
|
R4424:Or8g2b
|
UTSW |
9 |
39,751,652 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4530:Or8g2b
|
UTSW |
9 |
39,751,379 (GRCm39) |
missense |
probably benign |
|
|
R5385:Or8g2b
|
UTSW |
9 |
39,751,126 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5386:Or8g2b
|
UTSW |
9 |
39,751,126 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7199:Or8g2b
|
UTSW |
9 |
39,750,753 (GRCm39) |
missense |
probably benign |
|
|
R7849:Or8g2b
|
UTSW |
9 |
39,751,618 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8193:Or8g2b
|
UTSW |
9 |
39,750,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8342:Or8g2b
|
UTSW |
9 |
39,751,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8474:Or8g2b
|
UTSW |
9 |
39,751,048 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8851:Or8g2b
|
UTSW |
9 |
39,751,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9079:Or8g2b
|
UTSW |
9 |
39,750,769 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGCTATGTTGCCATCTGTAACC -3'
(R):5'- AAACACAGAGGACACTTTCCCTTGG -3'
Sequencing Primer
(F):5'- AACCCTTTGCTTTACAAGGTTG -3'
(R):5'- GGTTCATTGAACTTACTGAAGATGGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation