Incidental Mutation 'R8373:Or13a18'
| ID |
646542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or13a18
|
| Ensembl Gene |
ENSMUSG00000093942 |
| Gene Name |
olfactory receptor family 13 subfamily A member 18 |
| Synonyms |
IB7, IF5, ID12, GA_x6K02T2PBJ9-42759973-42760905, Olfr46, MOR253-8 |
| MMRRC Submission |
067741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R8373 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140181253-140191037 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 140190208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 35
(Y35F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072655]
[ENSMUST00000211771]
[ENSMUST00000214180]
|
| AlphaFold |
Q8VGJ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072655
AA Change: Y43F
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000072445
Gene: ENSMUSG00000093942
AA Change: Y43F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
39 |
315 |
1.1e-50 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
43 |
209 |
5.9e-8 |
PFAM |
|
Pfam:7tm_1
|
49 |
298 |
3.4e-21 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211771
AA Change: Y35F
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214180
AA Change: Y35F
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
T |
C |
10: 14,343,078 (GRCm39) |
T290A |
probably benign |
Het |
| Aff4 |
C |
T |
11: 53,291,094 (GRCm39) |
Q685* |
probably null |
Het |
| Ankmy1 |
A |
G |
1: 92,823,816 (GRCm39) |
M150T |
probably damaging |
Het |
| Armc1 |
T |
C |
3: 19,203,731 (GRCm39) |
Y65C |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,409,152 (GRCm39) |
V222A |
probably benign |
Het |
| Bcar1 |
A |
T |
8: 112,442,370 (GRCm39) |
Y228* |
probably null |
Het |
| Cct2 |
T |
C |
10: 116,896,729 (GRCm39) |
D158G |
possibly damaging |
Het |
| Cul1 |
T |
A |
6: 47,491,997 (GRCm39) |
C426S |
possibly damaging |
Het |
| Deup1 |
G |
T |
9: 15,503,671 (GRCm39) |
L297M |
possibly damaging |
Het |
| Dpp10 |
A |
G |
1: 123,781,958 (GRCm39) |
S74P |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,483,716 (GRCm39) |
Y98H |
possibly damaging |
Het |
| Epn3 |
T |
G |
11: 94,383,762 (GRCm39) |
D296A |
probably damaging |
Het |
| Eri2 |
A |
C |
7: 119,371,820 (GRCm39) |
I252S |
probably benign |
Het |
| Gp9 |
C |
T |
6: 87,755,994 (GRCm39) |
T3I |
probably benign |
Het |
| H2-Q5 |
T |
A |
17: 35,613,432 (GRCm39) |
V55E |
|
Het |
| Kif3c |
G |
T |
12: 3,416,089 (GRCm39) |
V37L |
probably benign |
Het |
| Lct |
A |
T |
1: 128,231,577 (GRCm39) |
N757K |
probably damaging |
Het |
| Lhx8 |
A |
C |
3: 154,030,295 (GRCm39) |
N112K |
probably damaging |
Het |
| Loxl3 |
T |
A |
6: 83,025,872 (GRCm39) |
S373R |
possibly damaging |
Het |
| Mettl4 |
G |
A |
17: 95,041,077 (GRCm39) |
T359I |
probably damaging |
Het |
| Mpp7 |
A |
G |
18: 7,444,096 (GRCm39) |
S109P |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,954,032 (GRCm39) |
V840A |
probably benign |
Het |
| Ncoa4 |
T |
A |
14: 31,898,893 (GRCm39) |
L571Q |
probably damaging |
Het |
| Or2f1 |
T |
C |
6: 42,721,280 (GRCm39) |
F103S |
probably damaging |
Het |
| Phgdh |
G |
A |
3: 98,228,561 (GRCm39) |
T204I |
probably damaging |
Het |
| Pla2g4d |
C |
T |
2: 120,107,980 (GRCm39) |
V310M |
probably null |
Het |
| Prss3b |
T |
G |
6: 41,008,622 (GRCm39) |
T231P |
possibly damaging |
Het |
| Psmd12 |
C |
T |
11: 107,388,450 (GRCm39) |
P421L |
probably damaging |
Het |
| Ptch1 |
A |
G |
13: 63,688,982 (GRCm39) |
Y432H |
probably damaging |
Het |
| Rapgef1 |
G |
A |
2: 29,600,243 (GRCm39) |
G655S |
probably damaging |
Het |
| Rilpl2 |
C |
A |
5: 124,616,097 (GRCm39) |
A18S |
probably damaging |
Het |
| Srsf7 |
T |
C |
17: 80,512,815 (GRCm39) |
R88G |
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,660,059 (GRCm39) |
K85E |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,773,488 (GRCm39) |
S49R |
probably damaging |
Het |
| Vinac1 |
T |
A |
2: 128,880,091 (GRCm39) |
I612F |
|
Het |
| Wdr48 |
A |
G |
9: 119,734,560 (GRCm39) |
T160A |
probably damaging |
Het |
| Zfp704 |
G |
A |
3: 9,674,502 (GRCm39) |
T93M |
unknown |
Het |
|
| Other mutations in Or13a18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Or13a18
|
APN |
7 |
140,190,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02408:Or13a18
|
APN |
7 |
140,190,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02496:Or13a18
|
APN |
7 |
140,190,081 (GRCm39) |
start codon destroyed |
probably benign |
|
|
IGL03003:Or13a18
|
APN |
7 |
140,190,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Or13a18
|
UTSW |
7 |
140,190,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1350:Or13a18
|
UTSW |
7 |
140,190,622 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1466:Or13a18
|
UTSW |
7 |
140,190,882 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1466:Or13a18
|
UTSW |
7 |
140,190,882 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2008:Or13a18
|
UTSW |
7 |
140,190,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4110:Or13a18
|
UTSW |
7 |
140,190,178 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4110:Or13a18
|
UTSW |
7 |
140,190,177 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4255:Or13a18
|
UTSW |
7 |
140,190,500 (GRCm39) |
nonsense |
probably null |
|
|
R4622:Or13a18
|
UTSW |
7 |
140,190,611 (GRCm39) |
nonsense |
probably null |
|
|
R4809:Or13a18
|
UTSW |
7 |
140,190,987 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4826:Or13a18
|
UTSW |
7 |
140,190,232 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4989:Or13a18
|
UTSW |
7 |
140,190,304 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5177:Or13a18
|
UTSW |
7 |
140,190,102 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5261:Or13a18
|
UTSW |
7 |
140,190,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5770:Or13a18
|
UTSW |
7 |
140,190,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5863:Or13a18
|
UTSW |
7 |
140,190,544 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6082:Or13a18
|
UTSW |
7 |
140,190,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6705:Or13a18
|
UTSW |
7 |
140,190,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7216:Or13a18
|
UTSW |
7 |
140,190,373 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7443:Or13a18
|
UTSW |
7 |
140,190,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Or13a18
|
UTSW |
7 |
140,190,091 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7806:Or13a18
|
UTSW |
7 |
140,190,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8884:Or13a18
|
UTSW |
7 |
140,190,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9278:Or13a18
|
UTSW |
7 |
140,190,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9595:Or13a18
|
UTSW |
7 |
140,190,939 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCCTTCGCAGATGTAAATAC -3'
(R):5'- GAGATGGTGTTTTCCTCAGACAG -3'
Sequencing Primer
(F):5'- GCCTTCGCAGATGTAAATACATTTAC -3'
(R):5'- GTGTTTTCCTCAGACAGTAGACCAAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation