Incidental Mutation 'IGL02466:Or13a24'
| ID |
294574 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or13a24
|
| Ensembl Gene |
ENSMUSG00000095901 |
| Gene Name |
olfactory receptor family 13 subfamily A member 24 |
| Synonyms |
Olfr538, MOR253-13P, MOR253-13P, MOR253-12P, GA_x6K02T2PBJ9-42723314-42724246, MOR253-10P, Olfr1523-ps1, Olfr1553-ps1, MOR253-12P |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL02466
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140154068-140155000 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140154684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 206
(Y206C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084457]
[ENSMUST00000210973]
|
| AlphaFold |
Q7TRT5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084457
AA Change: Y206C
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000081495
Gene: ENSMUSG00000095901
AA Change: Y206C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
5e-50 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
304 |
2.8e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.5e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210973
AA Change: Y206C
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,247,527 (GRCm39) |
F2425L |
probably benign |
Het |
| Adgre4 |
A |
T |
17: 56,121,188 (GRCm39) |
Y418F |
probably benign |
Het |
| Adra1a |
G |
T |
14: 66,875,322 (GRCm39) |
C99F |
probably damaging |
Het |
| Aox3 |
C |
A |
1: 58,197,431 (GRCm39) |
H592Q |
probably benign |
Het |
| Cacna1f |
A |
G |
X: 7,495,644 (GRCm39) |
|
probably null |
Het |
| Cacna2d2 |
T |
A |
9: 107,342,753 (GRCm39) |
I100N |
probably damaging |
Het |
| Cblif |
A |
T |
19: 11,729,596 (GRCm39) |
N185I |
probably damaging |
Het |
| Ccr9 |
T |
A |
9: 123,608,911 (GRCm39) |
C198S |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Col4a3 |
T |
A |
1: 82,647,913 (GRCm39) |
C475S |
unknown |
Het |
| Csnk2a2 |
T |
C |
8: 96,203,859 (GRCm39) |
D100G |
possibly damaging |
Het |
| Cstf2t |
G |
A |
19: 31,061,277 (GRCm39) |
G271E |
possibly damaging |
Het |
| Fbxw22 |
T |
C |
9: 109,214,160 (GRCm39) |
R219G |
probably damaging |
Het |
| Homez |
A |
G |
14: 55,095,559 (GRCm39) |
F50L |
probably damaging |
Het |
| Hspa4l |
C |
T |
3: 40,707,657 (GRCm39) |
Q81* |
probably null |
Het |
| Ifi202b |
T |
C |
1: 173,799,875 (GRCm39) |
D202G |
possibly damaging |
Het |
| Inava |
T |
C |
1: 136,144,173 (GRCm39) |
|
probably null |
Het |
| Mansc1 |
T |
A |
6: 134,587,814 (GRCm39) |
D121V |
probably damaging |
Het |
| Or4a27 |
T |
G |
2: 88,559,739 (GRCm39) |
D68A |
probably damaging |
Het |
| Or51h5 |
T |
A |
7: 102,577,723 (GRCm39) |
V296E |
possibly damaging |
Het |
| P2rx1 |
A |
T |
11: 72,900,410 (GRCm39) |
|
probably null |
Het |
| Phactr4 |
A |
G |
4: 132,104,483 (GRCm39) |
|
probably benign |
Het |
| Pus10 |
C |
T |
11: 23,675,574 (GRCm39) |
T482I |
probably damaging |
Het |
| Scyl2 |
G |
T |
10: 89,488,871 (GRCm39) |
Y206* |
probably null |
Het |
| Sell |
G |
A |
1: 163,896,632 (GRCm39) |
|
probably null |
Het |
| Slfn10-ps |
C |
T |
11: 82,921,090 (GRCm39) |
|
noncoding transcript |
Het |
| Ssh2 |
T |
C |
11: 77,307,233 (GRCm39) |
|
probably benign |
Het |
| Tas2r117 |
A |
G |
6: 132,779,963 (GRCm39) |
M34V |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 19,993,631 (GRCm39) |
T3S |
probably benign |
Het |
| Vmn2r73 |
A |
T |
7: 85,522,084 (GRCm39) |
I85K |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,770,887 (GRCm39) |
V2110A |
possibly damaging |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp592 |
G |
A |
7: 80,673,746 (GRCm39) |
G237R |
probably damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,717,950 (GRCm39) |
E115G |
probably damaging |
Het |
| Zranb3 |
G |
A |
1: 127,943,829 (GRCm39) |
T306M |
probably benign |
Het |
|
| Other mutations in Or13a24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01894:Or13a24
|
APN |
7 |
140,154,683 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02066:Or13a24
|
APN |
7 |
140,154,413 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02214:Or13a24
|
APN |
7 |
140,154,470 (GRCm39) |
nonsense |
probably null |
|
|
IGL02534:Or13a24
|
APN |
7 |
140,154,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0631:Or13a24
|
UTSW |
7 |
140,154,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0989:Or13a24
|
UTSW |
7 |
140,154,200 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1470:Or13a24
|
UTSW |
7 |
140,154,662 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1470:Or13a24
|
UTSW |
7 |
140,154,662 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1533:Or13a24
|
UTSW |
7 |
140,155,034 (GRCm39) |
splice site |
probably null |
|
|
R1764:Or13a24
|
UTSW |
7 |
140,154,383 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2184:Or13a24
|
UTSW |
7 |
140,154,315 (GRCm39) |
missense |
probably benign |
|
|
R2513:Or13a24
|
UTSW |
7 |
140,154,069 (GRCm39) |
start codon destroyed |
probably null |
0.97 |
|
R4445:Or13a24
|
UTSW |
7 |
140,154,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4476:Or13a24
|
UTSW |
7 |
140,154,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4607:Or13a24
|
UTSW |
7 |
140,154,554 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4608:Or13a24
|
UTSW |
7 |
140,154,554 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4752:Or13a24
|
UTSW |
7 |
140,154,515 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6934:Or13a24
|
UTSW |
7 |
140,154,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6978:Or13a24
|
UTSW |
7 |
140,154,200 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7559:Or13a24
|
UTSW |
7 |
140,154,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Or13a24
|
UTSW |
7 |
140,154,123 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7685:Or13a24
|
UTSW |
7 |
140,154,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8406:Or13a24
|
UTSW |
7 |
140,154,044 (GRCm39) |
start gained |
probably benign |
|
|
R8884:Or13a24
|
UTSW |
7 |
140,154,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Or13a24
|
UTSW |
7 |
140,154,869 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Posted On |
2015-04-16 |
Incidental Mutation