Incidental Mutation 'IGL03122:Or9q1'
| ID |
410016 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or9q1
|
| Ensembl Gene |
ENSMUSG00000054526 |
| Gene Name |
olfactory receptor family 9 subfamily Q member 1 |
| Synonyms |
Olfr1500, GA_x6K02T2RE5P-4160554-4159619, MOR212-4P |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
IGL03122
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
13804823-13805758 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13805014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 249
(S249P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067670]
[ENSMUST00000214475]
[ENSMUST00000215760]
[ENSMUST00000216287]
[ENSMUST00000217079]
[ENSMUST00000219674]
|
| AlphaFold |
Q7TQQ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067670
AA Change: S249P
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000067303
Gene: ENSMUSG00000054526
AA Change: S249P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
9.8e-48 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
220 |
9.5e-9 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
4.1e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214475
AA Change: S249P
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214579
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215760
AA Change: S249P
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216287
AA Change: S249P
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217079
AA Change: S249P
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219674
AA Change: S249P
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| 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 |
|---|
| Adgrg7 |
G |
A |
16: 56,590,725 (GRCm39) |
|
probably benign |
Het |
| Afap1l1 |
T |
C |
18: 61,866,902 (GRCm39) |
D719G |
probably benign |
Het |
| Amph |
C |
T |
13: 19,287,113 (GRCm39) |
T274M |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 120,469,414 (GRCm39) |
D396E |
possibly damaging |
Het |
| Atpaf1 |
T |
C |
4: 115,648,475 (GRCm39) |
I164T |
probably damaging |
Het |
| Avpr1b |
C |
A |
1: 131,528,257 (GRCm39) |
P260Q |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,189,305 (GRCm39) |
|
probably benign |
Het |
| Cald1 |
A |
G |
6: 34,741,963 (GRCm39) |
I449V |
probably damaging |
Het |
| Ccdc24 |
A |
G |
4: 117,728,942 (GRCm39) |
|
probably null |
Het |
| Cdcp3 |
A |
G |
7: 130,798,243 (GRCm39) |
Q84R |
possibly damaging |
Het |
| Cenpk |
C |
A |
13: 104,378,885 (GRCm39) |
Q134K |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,438,007 (GRCm39) |
N373D |
probably damaging |
Het |
| Col7a1 |
T |
A |
9: 108,790,751 (GRCm39) |
S1042T |
unknown |
Het |
| Cry2 |
G |
A |
2: 92,243,640 (GRCm39) |
R439C |
probably damaging |
Het |
| Dip2a |
G |
T |
10: 76,110,880 (GRCm39) |
D1138E |
probably benign |
Het |
| Dlgap3 |
T |
C |
4: 127,089,018 (GRCm39) |
S205P |
possibly damaging |
Het |
| Echdc2 |
T |
A |
4: 108,022,777 (GRCm39) |
S18T |
probably benign |
Het |
| Efcab2 |
T |
A |
1: 178,265,042 (GRCm39) |
V36E |
probably damaging |
Het |
| Galk1 |
A |
T |
11: 115,901,065 (GRCm39) |
|
probably null |
Het |
| Hoxc11 |
A |
T |
15: 102,863,390 (GRCm39) |
N144Y |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,305,884 (GRCm39) |
C824S |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,570,663 (GRCm39) |
S401G |
probably benign |
Het |
| Kcnn1 |
T |
G |
8: 71,307,724 (GRCm39) |
D106A |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,943,959 (GRCm39) |
N754S |
probably benign |
Het |
| Marchf6 |
A |
G |
15: 31,478,439 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
A |
C |
11: 71,072,659 (GRCm39) |
C395G |
probably benign |
Het |
| Or2n1d |
T |
C |
17: 38,646,192 (GRCm39) |
V48A |
probably benign |
Het |
| Or4k2 |
A |
T |
14: 50,424,461 (GRCm39) |
M71K |
probably damaging |
Het |
| Or5ac15 |
T |
C |
16: 58,939,801 (GRCm39) |
M211V |
probably benign |
Het |
| Scel |
A |
G |
14: 103,836,842 (GRCm39) |
R477G |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,732,894 (GRCm39) |
S984P |
probably damaging |
Het |
| Slc4a7 |
C |
T |
14: 14,782,040 (GRCm38) |
|
probably benign |
Het |
| Tas2r103 |
A |
G |
6: 133,013,872 (GRCm39) |
S65P |
probably damaging |
Het |
| Tnip2 |
T |
C |
5: 34,661,095 (GRCm39) |
E119G |
possibly damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,381,782 (GRCm39) |
L310M |
possibly damaging |
Het |
|
| Other mutations in Or9q1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02004:Or9q1
|
APN |
19 |
13,805,427 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0003:Or9q1
|
UTSW |
19 |
13,805,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0003:Or9q1
|
UTSW |
19 |
13,805,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0118:Or9q1
|
UTSW |
19 |
13,804,929 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0458:Or9q1
|
UTSW |
19 |
13,805,593 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0507:Or9q1
|
UTSW |
19 |
13,805,140 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0515:Or9q1
|
UTSW |
19 |
13,805,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0907:Or9q1
|
UTSW |
19 |
13,805,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1524:Or9q1
|
UTSW |
19 |
13,805,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2883:Or9q1
|
UTSW |
19 |
13,805,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4278:Or9q1
|
UTSW |
19 |
13,805,793 (GRCm39) |
start gained |
probably benign |
|
|
R4824:Or9q1
|
UTSW |
19 |
13,805,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4981:Or9q1
|
UTSW |
19 |
13,805,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5785:Or9q1
|
UTSW |
19 |
13,804,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6597:Or9q1
|
UTSW |
19 |
13,805,821 (GRCm39) |
start gained |
probably benign |
|
|
R9790:Or9q1
|
UTSW |
19 |
13,804,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9791:Or9q1
|
UTSW |
19 |
13,804,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Or9q1
|
UTSW |
19 |
13,805,263 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Or9q1
|
UTSW |
19 |
13,804,897 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Posted On |
2016-08-02 |
Incidental Mutation