Incidental Mutation 'IGL01578:Or8k20'
| ID |
91322 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or8k20
|
| Ensembl Gene |
ENSMUSG00000075193 |
| Gene Name |
olfactory receptor family 8 subfamily K member 20 |
| Synonyms |
Olfr1051, GA_x6K02T2Q125-47756192-47755266, MOR187-5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL01578
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
86105903-86106829 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 86106085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 249
(V249F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099898]
[ENSMUST00000216432]
[ENSMUST00000217245]
[ENSMUST00000217294]
|
| AlphaFold |
Q7TR76 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099898
AA Change: V249F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097482
Gene: ENSMUSG00000075193
AA Change: V249F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.8e-53 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.7e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216432
AA Change: V249F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217245
AA Change: V249F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217294
AA Change: V249F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap28 |
G |
A |
17: 68,165,195 (GRCm39) |
T516I |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,955,192 (GRCm39) |
C3486R |
probably benign |
Het |
| Camk2g |
G |
A |
14: 20,797,922 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,300,194 (GRCm39) |
E3167G |
unknown |
Het |
| Dmxl1 |
T |
A |
18: 50,095,272 (GRCm39) |
H2950Q |
probably damaging |
Het |
| Eml6 |
A |
T |
11: 29,800,870 (GRCm39) |
S379T |
probably benign |
Het |
| Epb41l3 |
C |
T |
17: 69,555,704 (GRCm39) |
H13Y |
probably damaging |
Het |
| Fam149a |
A |
T |
8: 45,803,479 (GRCm39) |
D337E |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 73,842,361 (GRCm39) |
|
probably benign |
Het |
| Gm6489 |
G |
T |
1: 31,326,416 (GRCm39) |
|
noncoding transcript |
Het |
| Hspg2 |
G |
A |
4: 137,266,494 (GRCm39) |
R1885H |
probably damaging |
Het |
| Jag1 |
T |
A |
2: 136,941,971 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
A |
T |
14: 123,809,503 (GRCm39) |
N216K |
probably benign |
Het |
| Ndst1 |
T |
C |
18: 60,846,198 (GRCm39) |
Y37C |
probably damaging |
Het |
| Nr2c2 |
A |
G |
6: 92,139,019 (GRCm39) |
N486S |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,890,506 (GRCm39) |
L7342Q |
unknown |
Het |
| Or13l2 |
A |
T |
3: 97,318,036 (GRCm39) |
C154S |
probably damaging |
Het |
| Or56b2 |
A |
G |
7: 104,338,052 (GRCm39) |
I277V |
probably benign |
Het |
| Pou4f2 |
A |
C |
8: 79,162,284 (GRCm39) |
D106E |
probably damaging |
Het |
| Ppic |
G |
A |
18: 53,551,001 (GRCm39) |
P10S |
unknown |
Het |
| Psd2 |
A |
G |
18: 36,112,838 (GRCm39) |
T178A |
probably damaging |
Het |
| Ro60 |
A |
T |
1: 143,637,038 (GRCm39) |
N391K |
probably damaging |
Het |
| Slc25a34 |
G |
T |
4: 141,349,821 (GRCm39) |
|
probably null |
Het |
| Stap2 |
A |
G |
17: 56,304,623 (GRCm39) |
S360P |
probably benign |
Het |
| Stx3 |
T |
C |
19: 11,763,969 (GRCm39) |
E129G |
probably damaging |
Het |
| Sun3 |
T |
A |
11: 8,979,436 (GRCm39) |
E28D |
probably damaging |
Het |
| Tmem126a |
C |
T |
7: 90,100,750 (GRCm39) |
|
probably null |
Het |
| Trpc6 |
A |
T |
9: 8,634,058 (GRCm39) |
H379L |
probably damaging |
Het |
| Ttf2 |
A |
G |
3: 100,863,511 (GRCm39) |
S608P |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,711,297 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or8k20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02263:Or8k20
|
APN |
2 |
86,106,546 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03143:Or8k20
|
APN |
2 |
86,106,580 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1182:Or8k20
|
UTSW |
2 |
86,106,612 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1475:Or8k20
|
UTSW |
2 |
86,105,905 (GRCm39) |
makesense |
probably null |
|
|
R1712:Or8k20
|
UTSW |
2 |
86,106,337 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1903:Or8k20
|
UTSW |
2 |
86,106,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2097:Or8k20
|
UTSW |
2 |
86,106,383 (GRCm39) |
nonsense |
probably null |
|
|
R4680:Or8k20
|
UTSW |
2 |
86,106,517 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4879:Or8k20
|
UTSW |
2 |
86,106,107 (GRCm39) |
nonsense |
probably null |
|
|
R5094:Or8k20
|
UTSW |
2 |
86,106,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6448:Or8k20
|
UTSW |
2 |
86,106,691 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8250:Or8k20
|
UTSW |
2 |
86,106,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9525:Or8k20
|
UTSW |
2 |
86,106,484 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9761:Or8k20
|
UTSW |
2 |
86,106,150 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0064:Or8k20
|
UTSW |
2 |
86,106,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation