Incidental Mutation 'R4243:Or2ak6'
| ID |
320312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2ak6
|
| Ensembl Gene |
ENSMUSG00000064044 |
| Gene Name |
olfactory receptor family 2 subfamily AK member 6 |
| Synonyms |
MOR285-2, GA_x6K02T2NKPP-708319-707399, Olfr319 |
| MMRRC Submission |
041643-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R4243 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58592529-58593449 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 58593277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 250
(L250R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076965]
[ENSMUST00000215962]
|
| AlphaFold |
L7MTY4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076965
AA Change: L250R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076232
Gene: ENSMUSG00000064044
AA Change: L250R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
3.8e-46 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.4e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215238
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215962
AA Change: L250R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.4318 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500011B03Rik |
C |
A |
5: 114,951,855 (GRCm39) |
R40L |
possibly damaging |
Het |
| 4930449A18Rik |
T |
A |
3: 59,733,203 (GRCm39) |
|
noncoding transcript |
Het |
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| 4933409G03Rik |
C |
T |
2: 68,423,887 (GRCm39) |
|
probably benign |
Het |
| Actr1b |
T |
C |
1: 36,740,911 (GRCm39) |
Y171C |
possibly damaging |
Het |
| Birc2 |
T |
C |
9: 7,834,386 (GRCm39) |
T32A |
probably benign |
Het |
| Cdh13 |
T |
A |
8: 119,968,996 (GRCm39) |
V451E |
probably damaging |
Het |
| Cdh20 |
C |
T |
1: 104,869,868 (GRCm39) |
T196I |
probably damaging |
Het |
| Cdt1 |
A |
G |
8: 123,298,157 (GRCm39) |
M383V |
probably benign |
Het |
| Chrna9 |
T |
C |
5: 66,092,379 (GRCm39) |
|
probably null |
Het |
| Cpne9 |
C |
T |
6: 113,259,984 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,795,141 (GRCm39) |
S959P |
probably benign |
Het |
| Ctbp2 |
A |
G |
7: 132,600,583 (GRCm39) |
I647T |
probably benign |
Het |
| Cyld |
A |
T |
8: 89,457,383 (GRCm39) |
R536* |
probably null |
Het |
| Ddx1 |
A |
T |
12: 13,290,910 (GRCm39) |
C68* |
probably null |
Het |
| Dock10 |
T |
A |
1: 80,544,472 (GRCm39) |
E905V |
probably benign |
Het |
| Dynlt1b |
T |
C |
17: 6,697,639 (GRCm39) |
|
probably null |
Het |
| Faxc |
G |
A |
4: 21,982,491 (GRCm39) |
R310Q |
probably benign |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Frmd5 |
C |
A |
2: 121,393,363 (GRCm39) |
|
probably null |
Het |
| Gm5174 |
C |
A |
10: 86,492,144 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa12b |
C |
T |
2: 130,983,778 (GRCm39) |
H293Y |
possibly damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,710,501 (GRCm39) |
V234A |
probably benign |
Het |
| Jkamp |
G |
A |
12: 72,140,799 (GRCm39) |
V108I |
probably benign |
Het |
| Mettl23 |
T |
C |
11: 116,739,126 (GRCm39) |
V72A |
possibly damaging |
Het |
| Morc2b |
T |
A |
17: 33,355,375 (GRCm39) |
Y799F |
probably benign |
Het |
| Mtmr11 |
T |
A |
3: 96,075,393 (GRCm39) |
C358S |
probably damaging |
Het |
| Myo18b |
G |
A |
5: 112,840,261 (GRCm39) |
H2511Y |
possibly damaging |
Het |
| Mysm1 |
A |
G |
4: 94,857,248 (GRCm39) |
V120A |
probably benign |
Het |
| Nhlrc1 |
C |
T |
13: 47,167,502 (GRCm39) |
V252I |
probably benign |
Het |
| Or12j3 |
G |
A |
7: 139,952,857 (GRCm39) |
A222V |
probably benign |
Het |
| Or7g35 |
C |
A |
9: 19,495,854 (GRCm39) |
T7K |
probably damaging |
Het |
| Pard3 |
G |
A |
8: 128,098,128 (GRCm39) |
A390T |
probably benign |
Het |
| Pcdhga1 |
T |
A |
18: 37,796,605 (GRCm39) |
D536E |
probably damaging |
Het |
| Phactr3 |
G |
A |
2: 177,924,982 (GRCm39) |
|
probably null |
Het |
| Pkn2 |
T |
C |
3: 142,526,339 (GRCm39) |
N413D |
possibly damaging |
Het |
| Ppp1r12b |
T |
G |
1: 134,709,846 (GRCm39) |
|
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,083,649 (GRCm39) |
|
probably null |
Het |
| Rab3gap1 |
T |
C |
1: 127,865,304 (GRCm39) |
|
probably null |
Het |
| Rasa1 |
A |
G |
13: 85,392,314 (GRCm39) |
Y407H |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,499,051 (GRCm39) |
T72A |
possibly damaging |
Het |
| Slc27a1 |
A |
G |
8: 72,037,617 (GRCm39) |
T535A |
probably benign |
Het |
| Stra6 |
G |
A |
9: 58,050,309 (GRCm39) |
A237T |
probably benign |
Het |
| Tor1aip2 |
A |
G |
1: 155,941,182 (GRCm39) |
E496G |
probably damaging |
Het |
| Usp47 |
A |
G |
7: 111,707,836 (GRCm39) |
D1294G |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,643,187 (GRCm39) |
|
probably null |
Het |
| Vmn1r79 |
T |
A |
7: 11,910,971 (GRCm39) |
C284* |
probably null |
Het |
| Zar1 |
T |
C |
5: 72,737,736 (GRCm39) |
E121G |
possibly damaging |
Het |
| Zbtb40 |
C |
T |
4: 136,745,860 (GRCm39) |
A58T |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,518,952 (GRCm39) |
T25A |
probably damaging |
Het |
|
| Other mutations in Or2ak6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01398:Or2ak6
|
APN |
11 |
58,592,593 (GRCm39) |
missense |
probably benign |
|
|
IGL01955:Or2ak6
|
APN |
11 |
58,592,955 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02145:Or2ak6
|
APN |
11 |
58,592,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02283:Or2ak6
|
APN |
11 |
58,593,102 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0468:Or2ak6
|
UTSW |
11 |
58,592,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Or2ak6
|
UTSW |
11 |
58,593,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0815:Or2ak6
|
UTSW |
11 |
58,593,435 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0885:Or2ak6
|
UTSW |
11 |
58,592,913 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1081:Or2ak6
|
UTSW |
11 |
58,593,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1603:Or2ak6
|
UTSW |
11 |
58,593,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1935:Or2ak6
|
UTSW |
11 |
58,593,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1936:Or2ak6
|
UTSW |
11 |
58,593,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Or2ak6
|
UTSW |
11 |
58,593,449 (GRCm39) |
makesense |
probably null |
|
|
R2436:Or2ak6
|
UTSW |
11 |
58,592,952 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4244:Or2ak6
|
UTSW |
11 |
58,593,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4742:Or2ak6
|
UTSW |
11 |
58,592,685 (GRCm39) |
missense |
probably benign |
|
|
R4801:Or2ak6
|
UTSW |
11 |
58,592,617 (GRCm39) |
missense |
probably benign |
|
|
R4802:Or2ak6
|
UTSW |
11 |
58,592,617 (GRCm39) |
missense |
probably benign |
|
|
R4927:Or2ak6
|
UTSW |
11 |
58,592,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5259:Or2ak6
|
UTSW |
11 |
58,592,779 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5259:Or2ak6
|
UTSW |
11 |
58,592,778 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5393:Or2ak6
|
UTSW |
11 |
58,593,326 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5471:Or2ak6
|
UTSW |
11 |
58,593,151 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5571:Or2ak6
|
UTSW |
11 |
58,592,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6746:Or2ak6
|
UTSW |
11 |
58,593,369 (GRCm39) |
missense |
probably benign |
|
|
R7045:Or2ak6
|
UTSW |
11 |
58,592,495 (GRCm39) |
start gained |
probably benign |
|
|
R9086:Or2ak6
|
UTSW |
11 |
58,592,955 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
X0065:Or2ak6
|
UTSW |
11 |
58,593,315 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Or2ak6
|
UTSW |
11 |
58,592,939 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1186:Or2ak6
|
UTSW |
11 |
58,593,222 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Or2ak6
|
UTSW |
11 |
58,593,153 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1186:Or2ak6
|
UTSW |
11 |
58,592,784 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Or2ak6
|
UTSW |
11 |
58,593,222 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Or2ak6
|
UTSW |
11 |
58,593,153 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1187:Or2ak6
|
UTSW |
11 |
58,592,784 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2ak6
|
UTSW |
11 |
58,593,222 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2ak6
|
UTSW |
11 |
58,593,153 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1188:Or2ak6
|
UTSW |
11 |
58,592,784 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Or2ak6
|
UTSW |
11 |
58,593,222 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Or2ak6
|
UTSW |
11 |
58,593,153 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1189:Or2ak6
|
UTSW |
11 |
58,592,784 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2ak6
|
UTSW |
11 |
58,593,222 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2ak6
|
UTSW |
11 |
58,593,153 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1190:Or2ak6
|
UTSW |
11 |
58,592,784 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2ak6
|
UTSW |
11 |
58,593,222 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2ak6
|
UTSW |
11 |
58,593,153 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1191:Or2ak6
|
UTSW |
11 |
58,592,784 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Or2ak6
|
UTSW |
11 |
58,593,222 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Or2ak6
|
UTSW |
11 |
58,593,153 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1192:Or2ak6
|
UTSW |
11 |
58,592,784 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAAGACACATCCCAATATGAGC -3'
(R):5'- TCATTCCAGAGAGTGTCCAAGAC -3'
Sequencing Primer
(F):5'- AGCATATGATTGTCATGAGTGTCC -3'
(R):5'- GTCCAAGACTAACTTTAGATCAGTCC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation