Incidental Mutation 'R0989:Or13a24'
| ID |
97496 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
039109-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R0989 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140154068-140155000 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 140154200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 45
(I45L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084457]
[ENSMUST00000210973]
|
| AlphaFold |
Q7TRT5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084457
AA Change: I45L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081495
Gene: ENSMUSG00000095901
AA Change: I45L
| 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 damaging
Transcript: ENSMUST00000210973
AA Change: I45L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.2133 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
| 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 |
|---|
| Acadsb |
A |
G |
7: 131,030,273 (GRCm39) |
D140G |
probably damaging |
Het |
| Atp7b |
A |
G |
8: 22,518,710 (GRCm39) |
S43P |
possibly damaging |
Het |
| C4bp |
G |
A |
1: 130,570,790 (GRCm39) |
T262I |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,370,289 (GRCm39) |
Y169H |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,915,480 (GRCm39) |
E831G |
probably benign |
Het |
| Celsr2 |
A |
C |
3: 108,310,588 (GRCm39) |
M1498R |
probably benign |
Het |
| Crim1 |
T |
C |
17: 78,508,373 (GRCm39) |
V59A |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,875,002 (GRCm39) |
I2560V |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,739,155 (GRCm39) |
M376K |
possibly damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fbxw11 |
T |
C |
11: 32,685,149 (GRCm39) |
V328A |
probably benign |
Het |
| Gm4846 |
G |
A |
1: 166,314,689 (GRCm39) |
S318L |
possibly damaging |
Het |
| Golm1 |
A |
T |
13: 59,787,997 (GRCm39) |
Y301N |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,698,180 (GRCm39) |
T614A |
probably benign |
Het |
| Klhl33 |
T |
A |
14: 51,129,279 (GRCm39) |
Y390F |
probably damaging |
Het |
| Minar1 |
T |
A |
9: 89,484,088 (GRCm39) |
K436N |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,316,169 (GRCm39) |
S6P |
probably benign |
Het |
| Neurod2 |
A |
G |
11: 98,218,805 (GRCm39) |
S120P |
probably damaging |
Het |
| Nfkb1 |
A |
G |
3: 135,295,157 (GRCm39) |
S896P |
probably benign |
Het |
| Nr3c2 |
T |
C |
8: 77,914,193 (GRCm39) |
Y687H |
probably damaging |
Het |
| Or52k2 |
G |
A |
7: 102,253,690 (GRCm39) |
G43D |
probably damaging |
Het |
| Parp3 |
C |
T |
9: 106,350,281 (GRCm39) |
|
probably null |
Het |
| Pcolce2 |
T |
A |
9: 95,520,776 (GRCm39) |
M51K |
probably benign |
Het |
| Pnoc |
T |
C |
14: 65,642,317 (GRCm39) |
K149E |
probably damaging |
Het |
| Polr1b |
T |
G |
2: 128,967,997 (GRCm39) |
V1130G |
probably damaging |
Het |
| Prcp |
A |
T |
7: 92,559,424 (GRCm39) |
I163F |
probably benign |
Het |
| Sez6l2 |
A |
G |
7: 126,559,016 (GRCm39) |
D361G |
probably damaging |
Het |
| Slc4a9 |
T |
A |
18: 36,669,920 (GRCm39) |
L785* |
probably null |
Het |
| Ssna1 |
T |
C |
2: 25,161,575 (GRCm39) |
T91A |
probably benign |
Het |
| St18 |
A |
G |
1: 6,898,105 (GRCm39) |
T636A |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,136,736 (GRCm39) |
A1250T |
probably damaging |
Het |
| Tnk2 |
A |
G |
16: 32,499,176 (GRCm39) |
M815V |
probably damaging |
Het |
| Tspan31 |
T |
A |
10: 126,904,196 (GRCm39) |
H167L |
probably damaging |
Het |
| Tspoap1 |
T |
A |
11: 87,656,649 (GRCm39) |
C287S |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,685,599 (GRCm39) |
F2241S |
possibly damaging |
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 |
|
|
IGL02466:Or13a24
|
APN |
7 |
140,154,684 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAATCCACACCTCTATGAACTGG -3'
(R):5'- TGCATTCACAGCACAGATGGACC -3'
Sequencing Primer
(F):5'- CCTCTATGAACTGGATACTCCAC -3'
(R):5'- TCATAGGCCATAACTGTGAGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation