Incidental Mutation 'IGL00272:Or9m1b'
| ID |
12841 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or9m1b
|
| Ensembl Gene |
ENSMUSG00000075141 |
| Gene Name |
olfactory receptor family 9 subfamily M member 1B |
| Synonyms |
Olfr1160, MOR173-1, GA_x6K02T2Q125-49498697-49497765 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
IGL00272
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
87836161-87837120 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87836988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 45
(S45P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099839]
[ENSMUST00000215457]
|
| AlphaFold |
A2AVT0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099839
AA Change: S45P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000097427
Gene: ENSMUSG00000075141
AA Change: S45P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
40 |
316 |
1.2e-46 |
PFAM |
|
Pfam:7tm_1
|
50 |
298 |
2e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215457
AA Change: S36P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,700,279 (GRCm39) |
V41A |
probably damaging |
Het |
| Ankrd12 |
C |
T |
17: 66,293,169 (GRCm39) |
V755I |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,038,691 (GRCm39) |
S218P |
probably damaging |
Het |
| Bzw1 |
T |
C |
1: 58,442,101 (GRCm39) |
V292A |
possibly damaging |
Het |
| Cers2 |
T |
C |
3: 95,229,211 (GRCm39) |
Y228H |
probably damaging |
Het |
| Dnaaf6 |
A |
G |
X: 139,006,711 (GRCm39) |
I197V |
probably benign |
Het |
| Egf |
C |
T |
3: 129,505,098 (GRCm39) |
M625I |
probably benign |
Het |
| Fbxw8 |
A |
T |
5: 118,206,162 (GRCm39) |
H595Q |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,292,699 (GRCm39) |
I660F |
probably benign |
Het |
| Gapdh |
C |
T |
6: 125,139,470 (GRCm39) |
V267M |
probably damaging |
Het |
| Ginm1 |
T |
C |
10: 7,668,460 (GRCm39) |
|
probably benign |
Het |
| Gja1 |
A |
G |
10: 56,264,418 (GRCm39) |
D259G |
probably benign |
Het |
| Gm21814 |
T |
A |
6: 149,483,502 (GRCm39) |
|
noncoding transcript |
Het |
| Gm26870 |
T |
C |
9: 3,002,340 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
G |
A |
19: 56,306,264 (GRCm39) |
C482Y |
probably damaging |
Het |
| Knl1 |
A |
C |
2: 118,894,564 (GRCm39) |
N79T |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,624,605 (GRCm39) |
C1450Y |
probably damaging |
Het |
| Lats2 |
T |
C |
14: 57,929,026 (GRCm39) |
T950A |
probably benign |
Het |
| Map2k2 |
T |
A |
10: 80,956,907 (GRCm39) |
M95K |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,949,757 (GRCm39) |
I160N |
probably damaging |
Het |
| Or9m2 |
A |
T |
2: 87,820,782 (GRCm39) |
D109V |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,926,803 (GRCm39) |
S362P |
probably damaging |
Het |
| Ppp6r2 |
G |
T |
15: 89,170,016 (GRCm39) |
A844S |
probably benign |
Het |
| Rnf130 |
A |
G |
11: 49,984,623 (GRCm39) |
I308V |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,645,669 (GRCm39) |
N95S |
probably damaging |
Het |
| Shoc1 |
A |
G |
4: 59,086,961 (GRCm39) |
F284L |
probably benign |
Het |
| Skint2 |
A |
G |
4: 112,481,409 (GRCm39) |
T91A |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,797,494 (GRCm39) |
|
probably benign |
Het |
| Snapc1 |
A |
G |
12: 74,015,148 (GRCm39) |
|
probably null |
Het |
| Stard10 |
A |
T |
7: 100,971,173 (GRCm39) |
Y47F |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,870,095 (GRCm39) |
V233I |
probably damaging |
Het |
| Tex14 |
G |
A |
11: 87,426,469 (GRCm39) |
S1165N |
probably damaging |
Het |
| Unc5a |
A |
G |
13: 55,143,633 (GRCm39) |
I106V |
probably benign |
Het |
| Vps54 |
T |
A |
11: 21,227,909 (GRCm39) |
Y275N |
possibly damaging |
Het |
| Wdr87-ps |
G |
T |
7: 29,237,047 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Or9m1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01321:Or9m1b
|
APN |
2 |
87,836,589 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02009:Or9m1b
|
APN |
2 |
87,837,117 (GRCm39) |
missense |
probably benign |
|
|
IGL03409:Or9m1b
|
APN |
2 |
87,836,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0089:Or9m1b
|
UTSW |
2 |
87,836,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0685:Or9m1b
|
UTSW |
2 |
87,836,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1416:Or9m1b
|
UTSW |
2 |
87,836,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Or9m1b
|
UTSW |
2 |
87,836,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Or9m1b
|
UTSW |
2 |
87,836,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Or9m1b
|
UTSW |
2 |
87,836,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4853:Or9m1b
|
UTSW |
2 |
87,836,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5599:Or9m1b
|
UTSW |
2 |
87,836,349 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6851:Or9m1b
|
UTSW |
2 |
87,836,300 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6995:Or9m1b
|
UTSW |
2 |
87,836,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7817:Or9m1b
|
UTSW |
2 |
87,836,355 (GRCm39) |
missense |
probably benign |
|
|
R7970:Or9m1b
|
UTSW |
2 |
87,836,169 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7984:Or9m1b
|
UTSW |
2 |
87,836,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8325:Or9m1b
|
UTSW |
2 |
87,836,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8912:Or9m1b
|
UTSW |
2 |
87,836,661 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Or9m1b
|
UTSW |
2 |
87,836,781 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z31818:Or9m1b
|
UTSW |
2 |
87,836,234 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation