Incidental Mutation 'IGL01974:Or8k17'
| ID |
181687 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or8k17
|
| Ensembl Gene |
ENSMUSG00000075195 |
| Gene Name |
olfactory receptor family 8 subfamily K member 17 |
| Synonyms |
GA_x6K02T2Q125-47716657-47715716, MOR187-2, Olfr1048 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
IGL01974
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
86066215-86067177 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 86066304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 292
(L292I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099900]
[ENSMUST00000215607]
[ENSMUST00000216056]
|
| AlphaFold |
Q8VGS2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099900
AA Change: L292I
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000097484
Gene: ENSMUSG00000075195
AA Change: L292I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
38 |
315 |
1.4e-49 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
42 |
312 |
3.5e-6 |
PFAM |
|
Pfam:7tm_1
|
48 |
297 |
4.5e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215607
AA Change: L285I
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216056
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,381,762 (GRCm39) |
D1401G |
possibly damaging |
Het |
| Adamts2 |
G |
A |
11: 50,667,001 (GRCm39) |
G433S |
probably damaging |
Het |
| Cacna2d2 |
A |
C |
9: 107,394,621 (GRCm39) |
S598R |
probably benign |
Het |
| Cdkl3 |
A |
G |
11: 51,902,064 (GRCm39) |
Q91R |
probably damaging |
Het |
| Celf2 |
T |
C |
2: 6,608,842 (GRCm39) |
Y313C |
probably damaging |
Het |
| Clint1 |
C |
A |
11: 45,799,862 (GRCm39) |
N558K |
probably benign |
Het |
| Dcbld1 |
A |
G |
10: 52,180,777 (GRCm39) |
H147R |
probably benign |
Het |
| Ednrb |
A |
C |
14: 104,058,254 (GRCm39) |
Y350D |
probably damaging |
Het |
| Elp2 |
C |
T |
18: 24,759,260 (GRCm39) |
P539L |
probably damaging |
Het |
| Fam217b |
G |
A |
2: 178,063,020 (GRCm39) |
R328Q |
probably damaging |
Het |
| Gm9991 |
G |
T |
1: 90,603,197 (GRCm39) |
|
noncoding transcript |
Het |
| Herc4 |
T |
G |
10: 63,135,020 (GRCm39) |
|
probably null |
Het |
| Hus1 |
T |
C |
11: 8,950,088 (GRCm39) |
N211S |
possibly damaging |
Het |
| Immt |
A |
G |
6: 71,849,842 (GRCm39) |
D454G |
probably damaging |
Het |
| Itga4 |
G |
A |
2: 79,103,471 (GRCm39) |
|
probably benign |
Het |
| Kank1 |
A |
T |
19: 25,387,596 (GRCm39) |
N423I |
possibly damaging |
Het |
| Kynu |
T |
A |
2: 43,571,352 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
C |
14: 103,380,647 (GRCm39) |
S3670A |
possibly damaging |
Het |
| Ndufv3 |
T |
C |
17: 31,740,583 (GRCm39) |
V30A |
probably benign |
Het |
| Per2 |
C |
T |
1: 91,351,440 (GRCm39) |
R1022Q |
probably benign |
Het |
| Rad23a |
T |
C |
8: 85,565,568 (GRCm39) |
E30G |
probably damaging |
Het |
| Ropn1l |
T |
A |
15: 31,449,255 (GRCm39) |
Y91F |
probably benign |
Het |
| Sertad4 |
C |
A |
1: 192,529,274 (GRCm39) |
E181* |
probably null |
Het |
| Styxl2 |
A |
T |
1: 165,928,105 (GRCm39) |
C502* |
probably null |
Het |
| Tnfrsf1b |
G |
A |
4: 144,942,421 (GRCm39) |
P454L |
probably damaging |
Het |
| Ttbk2 |
G |
A |
2: 120,616,564 (GRCm39) |
R110W |
probably damaging |
Het |
| Usp17le |
G |
T |
7: 104,417,642 (GRCm39) |
S500Y |
probably benign |
Het |
|
| Other mutations in Or8k17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01962:Or8k17
|
APN |
2 |
86,066,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03072:Or8k17
|
APN |
2 |
86,066,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0714:Or8k17
|
UTSW |
2 |
86,066,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1630:Or8k17
|
UTSW |
2 |
86,066,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Or8k17
|
UTSW |
2 |
86,066,454 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5642:Or8k17
|
UTSW |
2 |
86,066,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7066:Or8k17
|
UTSW |
2 |
86,067,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7642:Or8k17
|
UTSW |
2 |
86,066,660 (GRCm39) |
nonsense |
probably null |
|
|
R8158:Or8k17
|
UTSW |
2 |
86,066,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8215:Or8k17
|
UTSW |
2 |
86,066,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8217:Or8k17
|
UTSW |
2 |
86,066,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8218:Or8k17
|
UTSW |
2 |
86,066,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8295:Or8k17
|
UTSW |
2 |
86,066,916 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8836:Or8k17
|
UTSW |
2 |
86,066,888 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9416:Or8k17
|
UTSW |
2 |
86,066,744 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9457:Or8k17
|
UTSW |
2 |
86,066,816 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9498:Or8k17
|
UTSW |
2 |
86,066,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or8k17
|
UTSW |
2 |
86,066,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation