Incidental Mutation 'IGL01137:Or8k38'
| ID |
50601 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or8k38
|
| Ensembl Gene |
ENSMUSG00000075176 |
| Gene Name |
olfactory receptor family 8 subfamily K member 38 |
| Synonyms |
Olfr1085, MOR191-1, GA_x6K02T2Q125-48147264-48146323 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01137
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
86487859-86488800 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86488055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 249
(I249N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099879]
[ENSMUST00000213279]
[ENSMUST00000214566]
|
| AlphaFold |
Q7TR64 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099879
AA Change: I249N
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097464
Gene: ENSMUSG00000075176
AA Change: I249N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
4.6e-49 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.1e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213279
AA Change: I249N
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214566
AA Change: I249N
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
C |
A |
15: 94,292,492 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
T |
C |
8: 123,611,075 (GRCm39) |
T2583A |
probably damaging |
Het |
| Anxa7 |
G |
A |
14: 20,506,648 (GRCm39) |
Q431* |
probably null |
Het |
| Asb15 |
T |
A |
6: 24,556,521 (GRCm39) |
D5E |
probably benign |
Het |
| Bex1 |
C |
A |
X: 135,115,243 (GRCm39) |
D29Y |
probably damaging |
Het |
| Cadm2 |
G |
A |
16: 66,612,238 (GRCm39) |
T108I |
probably damaging |
Het |
| Cecr2 |
T |
G |
6: 120,738,989 (GRCm39) |
L1211V |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,449,035 (GRCm39) |
|
probably benign |
Het |
| Ctrc |
C |
A |
4: 141,566,065 (GRCm39) |
V198L |
possibly damaging |
Het |
| Cyp2g1 |
A |
G |
7: 26,513,684 (GRCm39) |
S208G |
possibly damaging |
Het |
| Ddx46 |
T |
A |
13: 55,817,530 (GRCm39) |
Y718* |
probably null |
Het |
| Dlec1 |
T |
C |
9: 118,966,379 (GRCm39) |
I1116T |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,037,689 (GRCm39) |
Y2177H |
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,919,486 (GRCm39) |
F661S |
probably damaging |
Het |
| Dpy19l2 |
G |
A |
9: 24,569,858 (GRCm39) |
T365I |
possibly damaging |
Het |
| Flot2 |
T |
C |
11: 77,940,333 (GRCm39) |
Y27H |
probably damaging |
Het |
| Gsta4 |
T |
C |
9: 78,113,204 (GRCm39) |
Y95H |
possibly damaging |
Het |
| Kir3dl1 |
A |
G |
X: 135,427,360 (GRCm39) |
T192A |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,600,825 (GRCm39) |
N640K |
probably benign |
Het |
| Lrch1 |
C |
T |
14: 74,994,532 (GRCm39) |
V691M |
probably damaging |
Het |
| Myh9 |
T |
C |
15: 77,653,742 (GRCm39) |
D1302G |
probably benign |
Het |
| Myo18a |
T |
G |
11: 77,718,655 (GRCm39) |
F935V |
probably damaging |
Het |
| Mypn |
T |
C |
10: 62,988,633 (GRCm39) |
E464G |
probably benign |
Het |
| Or52l1 |
A |
G |
7: 104,829,695 (GRCm39) |
V290A |
probably benign |
Het |
| Or5ac25 |
A |
C |
16: 59,182,335 (GRCm39) |
M82R |
probably benign |
Het |
| Or5b101 |
A |
T |
19: 13,005,394 (GRCm39) |
F100I |
possibly damaging |
Het |
| R3hdm1 |
C |
T |
1: 128,109,612 (GRCm39) |
R39C |
probably damaging |
Het |
| Rps3a3 |
A |
T |
13: 108,807,666 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
C |
T |
3: 129,801,093 (GRCm39) |
S401N |
probably benign |
Het |
| Slc22a22 |
C |
A |
15: 57,117,674 (GRCm39) |
G289V |
probably damaging |
Het |
| Stk33 |
T |
C |
7: 108,928,775 (GRCm39) |
I246V |
probably benign |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Timmdc1 |
A |
T |
16: 38,338,747 (GRCm39) |
H114Q |
probably benign |
Het |
| Tlcd2 |
T |
C |
11: 75,360,337 (GRCm39) |
Y127H |
probably damaging |
Het |
| Tnfrsf11a |
G |
A |
1: 105,737,147 (GRCm39) |
D85N |
possibly damaging |
Het |
| Trbc2 |
T |
C |
6: 41,524,751 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
G |
A |
4: 43,091,291 (GRCm39) |
R39H |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,341,087 (GRCm39) |
L1521P |
probably damaging |
Het |
| Zbtb17 |
T |
A |
4: 141,193,678 (GRCm39) |
C607* |
probably null |
Het |
|
| Other mutations in Or8k38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00940:Or8k38
|
APN |
2 |
86,488,070 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01329:Or8k38
|
APN |
2 |
86,488,551 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01398:Or8k38
|
APN |
2 |
86,488,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02248:Or8k38
|
APN |
2 |
86,488,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02699:Or8k38
|
APN |
2 |
86,488,691 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02818:Or8k38
|
APN |
2 |
86,488,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03095:Or8k38
|
APN |
2 |
86,488,775 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03218:Or8k38
|
APN |
2 |
86,488,703 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0121:Or8k38
|
UTSW |
2 |
86,488,163 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0546:Or8k38
|
UTSW |
2 |
86,488,235 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0583:Or8k38
|
UTSW |
2 |
86,488,704 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0980:Or8k38
|
UTSW |
2 |
86,488,209 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2067:Or8k38
|
UTSW |
2 |
86,488,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2111:Or8k38
|
UTSW |
2 |
86,488,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3760:Or8k38
|
UTSW |
2 |
86,488,232 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4530:Or8k38
|
UTSW |
2 |
86,487,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4809:Or8k38
|
UTSW |
2 |
86,488,029 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5940:Or8k38
|
UTSW |
2 |
86,488,394 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6027:Or8k38
|
UTSW |
2 |
86,488,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6417:Or8k38
|
UTSW |
2 |
86,488,510 (GRCm39) |
nonsense |
probably null |
|
|
R6420:Or8k38
|
UTSW |
2 |
86,488,510 (GRCm39) |
nonsense |
probably null |
|
|
R6619:Or8k38
|
UTSW |
2 |
86,488,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6762:Or8k38
|
UTSW |
2 |
86,488,188 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6946:Or8k38
|
UTSW |
2 |
86,487,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7673:Or8k38
|
UTSW |
2 |
86,488,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7718:Or8k38
|
UTSW |
2 |
86,488,373 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8461:Or8k38
|
UTSW |
2 |
86,487,890 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8506:Or8k38
|
UTSW |
2 |
86,488,745 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8977:Or8k38
|
UTSW |
2 |
86,488,472 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9172:Or8k38
|
UTSW |
2 |
86,487,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9211:Or8k38
|
UTSW |
2 |
86,488,024 (GRCm39) |
nonsense |
probably null |
|
|
R9337:Or8k38
|
UTSW |
2 |
86,488,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9713:Or8k38
|
UTSW |
2 |
86,488,041 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Posted On |
2013-06-21 |
Incidental Mutation