Incidental Mutation 'IGL02157:Or13a22'
ID |
282261 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or13a22
|
Ensembl Gene |
ENSMUSG00000063230 |
Gene Name |
olfactory receptor family 13 subfamily A member 22 |
Synonyms |
Olfr535, GA_x6K02T2PBJ9-42641642-42642574, MOR253-7 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
IGL02157
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
140072553-140073491 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 140072847 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 99
(C99S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149412
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074897]
[ENSMUST00000213715]
[ENSMUST00000214296]
[ENSMUST00000216585]
[ENSMUST00000217235]
[ENSMUST00000217580]
|
AlphaFold |
Q8VGL3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074897
AA Change: C99S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074435 Gene: ENSMUSG00000063230 AA Change: C99S
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
33 |
309 |
4.5e-50 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
37 |
183 |
1.1e-8 |
PFAM |
Pfam:7tm_1
|
43 |
292 |
5.8e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213339
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213715
AA Change: C99S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214296
AA Change: C99S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216585
AA Change: C99S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216962
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217235
AA Change: C99S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217580
AA Change: C99S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
C |
5: 8,855,487 (GRCm39) |
|
probably benign |
Het |
Amotl1 |
A |
T |
9: 14,483,011 (GRCm39) |
|
probably benign |
Het |
Amph |
A |
T |
13: 19,288,401 (GRCm39) |
T297S |
possibly damaging |
Het |
Arhgap31 |
A |
G |
16: 38,444,263 (GRCm39) |
V198A |
probably damaging |
Het |
Bop1 |
T |
C |
15: 76,339,772 (GRCm39) |
D216G |
possibly damaging |
Het |
Cdh13 |
T |
C |
8: 119,232,410 (GRCm39) |
I38T |
possibly damaging |
Het |
Clmn |
T |
C |
12: 104,748,177 (GRCm39) |
T457A |
probably benign |
Het |
Clstn2 |
A |
C |
9: 97,423,928 (GRCm39) |
M279R |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Fam83h |
A |
T |
15: 75,876,904 (GRCm39) |
V208E |
probably damaging |
Het |
Fer |
A |
G |
17: 64,445,894 (GRCm39) |
N785S |
probably benign |
Het |
Fnip1 |
T |
C |
11: 54,378,589 (GRCm39) |
L225P |
probably damaging |
Het |
Gbp11 |
C |
T |
5: 105,475,374 (GRCm39) |
V325M |
possibly damaging |
Het |
Glis1 |
A |
G |
4: 107,484,758 (GRCm39) |
T418A |
probably benign |
Het |
Hook2 |
C |
T |
8: 85,727,779 (GRCm39) |
|
probably benign |
Het |
Hoxa6 |
C |
A |
6: 52,185,171 (GRCm39) |
C145F |
possibly damaging |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Mbd5 |
T |
C |
2: 49,168,987 (GRCm39) |
V1156A |
probably benign |
Het |
Mon2 |
G |
A |
10: 122,849,377 (GRCm39) |
P1308S |
probably damaging |
Het |
Mta2 |
T |
A |
19: 8,924,613 (GRCm39) |
|
probably benign |
Het |
Nup188 |
T |
A |
2: 30,219,385 (GRCm39) |
L867* |
probably null |
Het |
Oca2 |
G |
A |
7: 55,974,545 (GRCm39) |
|
probably null |
Het |
Or6c88 |
A |
G |
10: 129,407,019 (GRCm39) |
E165G |
probably damaging |
Het |
Or7e166 |
T |
A |
9: 19,624,585 (GRCm39) |
V154E |
probably benign |
Het |
Plekhh2 |
A |
G |
17: 84,874,370 (GRCm39) |
|
probably benign |
Het |
Pramel22 |
A |
T |
4: 143,380,947 (GRCm39) |
C359S |
probably damaging |
Het |
Rhbdd3 |
T |
C |
11: 5,055,424 (GRCm39) |
|
probably benign |
Het |
Timeless |
T |
A |
10: 128,078,255 (GRCm39) |
V255E |
probably benign |
Het |
Tmt1b |
T |
G |
10: 128,796,486 (GRCm39) |
T108P |
possibly damaging |
Het |
Trh |
A |
T |
6: 92,219,948 (GRCm39) |
S123T |
probably benign |
Het |
Ugdh |
C |
T |
5: 65,580,035 (GRCm39) |
A252T |
probably damaging |
Het |
Zfp619 |
A |
G |
7: 39,184,288 (GRCm39) |
Y106C |
probably damaging |
Het |
Zic5 |
G |
A |
14: 122,696,924 (GRCm39) |
P564S |
unknown |
Het |
|
Other mutations in Or13a22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00979:Or13a22
|
APN |
7 |
140,072,614 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01537:Or13a22
|
APN |
7 |
140,072,751 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01639:Or13a22
|
APN |
7 |
140,073,099 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02593:Or13a22
|
APN |
7 |
140,073,244 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03108:Or13a22
|
APN |
7 |
140,073,034 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1835:Or13a22
|
UTSW |
7 |
140,072,622 (GRCm39) |
missense |
probably benign |
|
R2040:Or13a22
|
UTSW |
7 |
140,073,295 (GRCm39) |
missense |
probably benign |
0.10 |
R3125:Or13a22
|
UTSW |
7 |
140,072,764 (GRCm39) |
missense |
probably benign |
0.01 |
R4795:Or13a22
|
UTSW |
7 |
140,072,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R6187:Or13a22
|
UTSW |
7 |
140,072,529 (GRCm39) |
start gained |
probably benign |
|
R6285:Or13a22
|
UTSW |
7 |
140,072,626 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6528:Or13a22
|
UTSW |
7 |
140,072,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R7016:Or13a22
|
UTSW |
7 |
140,073,153 (GRCm39) |
missense |
probably benign |
0.01 |
R7573:Or13a22
|
UTSW |
7 |
140,072,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R7867:Or13a22
|
UTSW |
7 |
140,073,049 (GRCm39) |
missense |
probably benign |
0.00 |
R8506:Or13a22
|
UTSW |
7 |
140,073,336 (GRCm39) |
missense |
probably benign |
|
R8822:Or13a22
|
UTSW |
7 |
140,072,926 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9315:Or13a22
|
UTSW |
7 |
140,072,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |