Incidental Mutation 'R6348:Or8k24'
| ID |
514434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8k24
|
| Ensembl Gene |
ENSMUSG00000075186 |
| Gene Name |
olfactory receptor family 8 subfamily K member 24 |
| Synonyms |
MOR190-2, Olfr1058, GA_x6K02T2Q125-47855818-47854868 |
| MMRRC Submission |
044502-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R6348 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
86215810-86216760 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86216513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 83
(Q83L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102631]
[ENSMUST00000213998]
|
| AlphaFold |
Q7TR74 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102631
AA Change: Q83L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099691
Gene: ENSMUSG00000075186
AA Change: Q83L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1e-49 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213998
AA Change: Q83L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215214
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (37/37) |
| 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 |
|---|
| Alox5 |
A |
T |
6: 116,391,556 (GRCm39) |
H400Q |
probably damaging |
Het |
| Arhgef16 |
G |
T |
4: 154,371,540 (GRCm39) |
Q218K |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,650,330 (GRCm39) |
H773L |
possibly damaging |
Het |
| Atic |
C |
T |
1: 71,615,857 (GRCm39) |
R468W |
probably damaging |
Het |
| Bfsp2 |
A |
T |
9: 103,357,271 (GRCm39) |
V52D |
probably benign |
Het |
| Bicd2 |
A |
G |
13: 49,533,322 (GRCm39) |
H636R |
probably damaging |
Het |
| Chac2 |
A |
G |
11: 30,927,406 (GRCm39) |
V171A |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,737,903 (GRCm39) |
I1512V |
possibly damaging |
Het |
| Cnbd1 |
T |
C |
4: 18,860,462 (GRCm39) |
D428G |
probably damaging |
Het |
| Crlf1 |
T |
C |
8: 70,945,990 (GRCm39) |
S22P |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,879,947 (GRCm39) |
F414L |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,454,285 (GRCm39) |
D765V |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,849,287 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
A |
T |
17: 37,367,791 (GRCm39) |
M414L |
possibly damaging |
Het |
| Grip2 |
A |
T |
6: 91,757,419 (GRCm39) |
D412E |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,395,258 (GRCm39) |
A4198T |
possibly damaging |
Het |
| Hsd3b3 |
C |
T |
3: 98,663,265 (GRCm39) |
|
probably null |
Het |
| Ifi213 |
G |
A |
1: 173,417,848 (GRCm39) |
T188I |
possibly damaging |
Het |
| Il36rn |
G |
A |
2: 24,169,726 (GRCm39) |
A29T |
probably damaging |
Het |
| Klk1b11 |
T |
C |
7: 43,647,275 (GRCm39) |
|
probably null |
Het |
| Mepce |
A |
T |
5: 137,783,698 (GRCm39) |
D209E |
possibly damaging |
Het |
| Mtr |
A |
C |
13: 12,262,840 (GRCm39) |
V111G |
possibly damaging |
Het |
| Mtrex |
T |
A |
13: 113,047,451 (GRCm39) |
H298L |
possibly damaging |
Het |
| Or2h1b |
A |
G |
17: 37,462,497 (GRCm39) |
V122A |
probably damaging |
Het |
| Or9k2b |
A |
T |
10: 130,016,166 (GRCm39) |
N194K |
probably benign |
Het |
| P2rx1 |
G |
A |
11: 72,890,148 (GRCm39) |
R3Q |
probably benign |
Het |
| Phc2 |
G |
A |
4: 128,598,944 (GRCm39) |
G34S |
probably benign |
Het |
| Poglut3 |
G |
A |
9: 53,301,740 (GRCm39) |
V131M |
probably damaging |
Het |
| Ppm1a |
A |
G |
12: 72,837,449 (GRCm39) |
H332R |
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,784,334 (GRCm39) |
V135A |
probably benign |
Het |
| Slc2a4 |
T |
C |
11: 69,835,848 (GRCm39) |
T334A |
probably benign |
Het |
| Slc6a15 |
T |
G |
10: 103,240,228 (GRCm39) |
V317G |
probably damaging |
Het |
| Speer2 |
T |
C |
16: 69,654,895 (GRCm39) |
D190G |
possibly damaging |
Het |
| Tbc1d21 |
G |
A |
9: 58,268,501 (GRCm39) |
A286V |
probably benign |
Het |
| Tmem210 |
T |
C |
2: 25,178,796 (GRCm39) |
S82P |
probably benign |
Het |
| Top6bl |
G |
C |
19: 4,722,106 (GRCm39) |
P105A |
probably damaging |
Het |
| Zbtb26 |
C |
T |
2: 37,325,687 (GRCm39) |
V450M |
probably benign |
Het |
|
| Other mutations in Or8k24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01353:Or8k24
|
APN |
2 |
86,216,365 (GRCm39) |
nonsense |
probably null |
|
|
R0413:Or8k24
|
UTSW |
2 |
86,216,058 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1315:Or8k24
|
UTSW |
2 |
86,216,518 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1609:Or8k24
|
UTSW |
2 |
86,215,838 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1951:Or8k24
|
UTSW |
2 |
86,215,855 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2184:Or8k24
|
UTSW |
2 |
86,216,489 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2351:Or8k24
|
UTSW |
2 |
86,216,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4067:Or8k24
|
UTSW |
2 |
86,216,431 (GRCm39) |
nonsense |
probably null |
|
|
R4706:Or8k24
|
UTSW |
2 |
86,216,732 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5164:Or8k24
|
UTSW |
2 |
86,215,815 (GRCm39) |
missense |
probably benign |
|
|
R5224:Or8k24
|
UTSW |
2 |
86,216,193 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5254:Or8k24
|
UTSW |
2 |
86,216,484 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5424:Or8k24
|
UTSW |
2 |
86,216,184 (GRCm39) |
nonsense |
probably null |
|
|
R5907:Or8k24
|
UTSW |
2 |
86,216,218 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5980:Or8k24
|
UTSW |
2 |
86,216,141 (GRCm39) |
nonsense |
probably null |
|
|
R6874:Or8k24
|
UTSW |
2 |
86,215,872 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6897:Or8k24
|
UTSW |
2 |
86,216,024 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7060:Or8k24
|
UTSW |
2 |
86,216,569 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7516:Or8k24
|
UTSW |
2 |
86,216,328 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7530:Or8k24
|
UTSW |
2 |
86,216,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8130:Or8k24
|
UTSW |
2 |
86,215,911 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9147:Or8k24
|
UTSW |
2 |
86,216,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9148:Or8k24
|
UTSW |
2 |
86,216,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Or8k24
|
UTSW |
2 |
86,216,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Or8k24
|
UTSW |
2 |
86,216,100 (GRCm39) |
missense |
probably benign |
0.43 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGAGCCACAATTGTACAGTAGAC -3'
(R):5'- GAACTGCAGCCTCCATTATTTG -3'
Sequencing Primer
(F):5'- GCACCAAGCATAGTCTTTTTGAC -3'
(R):5'- GCAGCCTCCATTATTTGTACTTTTC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation