Incidental Mutation 'IGL02210:Or12k8'
| ID |
284654 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or12k8
|
| Ensembl Gene |
ENSMUSG00000075378 |
| Gene Name |
olfactory receptor family 12 subfamily K member 8 |
| Synonyms |
GA_x6K02T2NLDC-33777519-33776551, MOR159-3, Olfr361 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
IGL02210
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
36974790-36975758 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 36975631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 43
(T43N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100145]
[ENSMUST00000214969]
[ENSMUST00000216663]
|
| AlphaFold |
Q8VF16 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100145
AA Change: T43N
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000097723
Gene: ENSMUSG00000075378
AA Change: T43N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.5e-44 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
2.3e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122434
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126779
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214969
AA Change: T43N
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216663
AA Change: T43N
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,633,097 (GRCm39) |
F215S |
probably damaging |
Het |
| Acvr2a |
A |
T |
2: 48,788,538 (GRCm39) |
H422L |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,492,852 (GRCm39) |
Y908C |
possibly damaging |
Het |
| Alyref |
A |
C |
11: 120,488,499 (GRCm39) |
S110A |
possibly damaging |
Het |
| Ankrd1 |
T |
C |
19: 36,095,714 (GRCm39) |
D86G |
probably damaging |
Het |
| Anpep |
T |
A |
7: 79,476,652 (GRCm39) |
Y29F |
probably benign |
Het |
| Appl1 |
T |
C |
14: 26,647,909 (GRCm39) |
|
probably benign |
Het |
| Arrdc5 |
T |
C |
17: 56,607,026 (GRCm39) |
D73G |
probably damaging |
Het |
| Atp12a |
T |
A |
14: 56,609,201 (GRCm39) |
Y142* |
probably null |
Het |
| Clec4a3 |
T |
A |
6: 122,931,067 (GRCm39) |
I52N |
probably damaging |
Het |
| Cmya5 |
G |
A |
13: 93,229,242 (GRCm39) |
P1949S |
probably benign |
Het |
| Crybb2 |
T |
A |
5: 113,206,253 (GRCm39) |
Q194L |
probably damaging |
Het |
| Dmxl2 |
A |
C |
9: 54,311,333 (GRCm39) |
L1796R |
probably damaging |
Het |
| Ecm1 |
A |
G |
3: 95,643,289 (GRCm39) |
F337S |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,017,710 (GRCm39) |
S596P |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,946,002 (GRCm39) |
T1632A |
probably benign |
Het |
| Gm5070 |
T |
G |
3: 95,317,936 (GRCm39) |
|
noncoding transcript |
Het |
| Hps5 |
T |
C |
7: 46,435,994 (GRCm39) |
Y184C |
probably benign |
Het |
| Letmd1 |
T |
C |
15: 100,367,128 (GRCm39) |
|
probably null |
Het |
| Lipo5 |
A |
T |
19: 33,445,277 (GRCm39) |
N97K |
unknown |
Het |
| Mis18bp1 |
A |
T |
12: 65,183,605 (GRCm39) |
Y922* |
probably null |
Het |
| Mob3c |
C |
A |
4: 115,690,952 (GRCm39) |
H181N |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,574,054 (GRCm39) |
T711S |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,602,851 (GRCm39) |
T1233A |
probably benign |
Het |
| Nherf4 |
T |
G |
9: 44,159,614 (GRCm39) |
T461P |
probably benign |
Het |
| Or12e8 |
T |
A |
2: 87,188,347 (GRCm39) |
D186E |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,225,053 (GRCm39) |
E1817G |
possibly damaging |
Het |
| Pgap4 |
A |
G |
4: 49,586,686 (GRCm39) |
Y161H |
probably benign |
Het |
| Phc3 |
A |
G |
3: 30,990,858 (GRCm39) |
V420A |
probably damaging |
Het |
| Plekhn1 |
A |
T |
4: 156,308,106 (GRCm39) |
C316S |
probably damaging |
Het |
| Ppp1cb |
T |
A |
5: 32,640,818 (GRCm39) |
|
probably benign |
Het |
| Slc29a4 |
T |
C |
5: 142,704,534 (GRCm39) |
Y359H |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,477,426 (GRCm39) |
I4982T |
probably damaging |
Het |
| Sstr4 |
T |
A |
2: 148,238,229 (GRCm39) |
L280Q |
probably damaging |
Het |
| Stap1 |
G |
A |
5: 86,225,920 (GRCm39) |
|
probably null |
Het |
| Szt2 |
A |
G |
4: 118,247,020 (GRCm39) |
V865A |
possibly damaging |
Het |
| Tnr |
T |
A |
1: 159,679,671 (GRCm39) |
V215D |
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,860,613 (GRCm39) |
L288P |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,959,319 (GRCm39) |
|
probably benign |
Het |
| Usp8 |
T |
C |
2: 126,559,976 (GRCm39) |
|
probably benign |
Het |
| Uxs1 |
T |
C |
1: 43,789,446 (GRCm39) |
Y403C |
possibly damaging |
Het |
| Wnk2 |
T |
C |
13: 49,244,345 (GRCm39) |
E497G |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,250,890 (GRCm39) |
K21E |
probably benign |
Het |
|
| Other mutations in Or12k8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01531:Or12k8
|
APN |
2 |
36,975,407 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03180:Or12k8
|
APN |
2 |
36,975,722 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0571:Or12k8
|
UTSW |
2 |
36,975,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1715:Or12k8
|
UTSW |
2 |
36,975,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Or12k8
|
UTSW |
2 |
36,975,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2403:Or12k8
|
UTSW |
2 |
36,974,986 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3009:Or12k8
|
UTSW |
2 |
36,975,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3713:Or12k8
|
UTSW |
2 |
36,975,517 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4355:Or12k8
|
UTSW |
2 |
36,974,942 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4476:Or12k8
|
UTSW |
2 |
36,975,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5191:Or12k8
|
UTSW |
2 |
36,974,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5387:Or12k8
|
UTSW |
2 |
36,975,731 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5529:Or12k8
|
UTSW |
2 |
36,974,921 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5891:Or12k8
|
UTSW |
2 |
36,974,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7078:Or12k8
|
UTSW |
2 |
36,975,608 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7208:Or12k8
|
UTSW |
2 |
36,975,670 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7793:Or12k8
|
UTSW |
2 |
36,974,933 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8007:Or12k8
|
UTSW |
2 |
36,974,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8843:Or12k8
|
UTSW |
2 |
36,975,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8970:Or12k8
|
UTSW |
2 |
36,975,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9155:Or12k8
|
UTSW |
2 |
36,975,016 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9595:Or12k8
|
UTSW |
2 |
36,975,204 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1176:Or12k8
|
UTSW |
2 |
36,975,648 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation