Incidental Mutation 'R4582:Or10ak14'
| ID |
343720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10ak14
|
| Ensembl Gene |
ENSMUSG00000095218 |
| Gene Name |
olfactory receptor family 10 subfamily AK member 14 |
| Synonyms |
GA_x6K02T2QD9B-18795136-18796077, MOR259-4P, MOR259-9, Olfr1338, MOR259-4P, Olfr1524-ps1 |
| MMRRC Submission |
041803-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.778)
|
| Stock # |
R4582 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118610386-118614155 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118611090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 217
(I217N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084315]
[ENSMUST00000214922]
[ENSMUST00000216559]
|
| AlphaFold |
A0A1L1SSB4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084315
AA Change: I215N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092427
Gene: ENSMUSG00000095218
AA Change: I215N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
308 |
3.3e-55 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
306 |
1e-8 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
1.8e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214922
AA Change: I217N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216559
AA Change: I217N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abra |
A |
T |
15: 41,732,681 (GRCm39) |
D128E |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,749,369 (GRCm39) |
V1006E |
possibly damaging |
Het |
| Ankrd7 |
T |
A |
6: 18,868,020 (GRCm39) |
N95K |
probably damaging |
Het |
| Brd9 |
T |
C |
13: 74,095,852 (GRCm39) |
F366L |
probably benign |
Het |
| Brinp2 |
A |
G |
1: 158,095,508 (GRCm39) |
F118L |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,343,465 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,722,922 (GRCm39) |
F189L |
probably damaging |
Het |
| Cfap45 |
A |
G |
1: 172,357,479 (GRCm39) |
T36A |
probably benign |
Het |
| Clec4a1 |
G |
T |
6: 122,909,150 (GRCm39) |
V173L |
possibly damaging |
Het |
| Col6a5 |
G |
A |
9: 105,739,963 (GRCm39) |
T2552I |
probably benign |
Het |
| Dcaf15 |
A |
G |
8: 84,824,598 (GRCm39) |
V533A |
probably damaging |
Het |
| Dhrs9 |
A |
T |
2: 69,227,997 (GRCm39) |
I204F |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,892,153 (GRCm39) |
V811A |
possibly damaging |
Het |
| Eef1akmt1 |
T |
C |
14: 57,787,905 (GRCm39) |
D151G |
probably damaging |
Het |
| Eif4g3 |
G |
A |
4: 137,898,556 (GRCm39) |
R1109H |
probably damaging |
Het |
| Gtpbp10 |
T |
C |
5: 5,592,395 (GRCm39) |
T191A |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,424,482 (GRCm39) |
N714S |
possibly damaging |
Het |
| Lima1 |
T |
C |
15: 99,678,873 (GRCm39) |
T523A |
possibly damaging |
Het |
| Lipe |
A |
G |
7: 25,097,127 (GRCm39) |
L272P |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,741,532 (GRCm39) |
E554G |
possibly damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,765,580 (GRCm39) |
S488G |
possibly damaging |
Het |
| Man2a1 |
C |
T |
17: 65,059,494 (GRCm39) |
A1127V |
probably benign |
Het |
| Naglu |
A |
T |
11: 100,962,755 (GRCm39) |
I187F |
probably damaging |
Het |
| Nt5c1b |
T |
A |
12: 10,440,054 (GRCm39) |
M548K |
probably damaging |
Het |
| Or6c38 |
A |
T |
10: 128,929,027 (GRCm39) |
V272E |
possibly damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,080,485 (GRCm39) |
V409A |
probably benign |
Het |
| Pde6b |
A |
T |
5: 108,573,097 (GRCm39) |
|
probably null |
Het |
| Pkd2 |
A |
T |
5: 104,650,210 (GRCm39) |
K857* |
probably null |
Het |
| Rfx4 |
T |
A |
10: 84,680,164 (GRCm39) |
S114T |
possibly damaging |
Het |
| Sacs |
G |
A |
14: 61,429,147 (GRCm39) |
G402D |
probably damaging |
Het |
| Slc22a5 |
C |
T |
11: 53,782,035 (GRCm39) |
E111K |
probably damaging |
Het |
| Sptbn1 |
G |
A |
11: 30,169,597 (GRCm39) |
R44C |
probably damaging |
Het |
| Taf1 |
T |
C |
X: 100,637,601 (GRCm39) |
V1696A |
possibly damaging |
Het |
| Tm9sf3 |
C |
A |
19: 41,244,605 (GRCm39) |
G91C |
probably damaging |
Het |
| Tmie |
T |
G |
9: 110,702,865 (GRCm39) |
E32A |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tsga13 |
A |
T |
6: 30,879,298 (GRCm39) |
N138K |
probably benign |
Het |
| Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
| Ugt1a10 |
A |
T |
1: 87,983,463 (GRCm39) |
D87V |
possibly damaging |
Het |
| Vdac3-ps1 |
A |
T |
13: 18,206,177 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn1r29 |
A |
C |
6: 58,285,017 (GRCm39) |
I246L |
probably damaging |
Het |
| Zbtb16 |
A |
G |
9: 48,743,382 (GRCm39) |
V310A |
probably benign |
Het |
|
| Other mutations in Or10ak14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01092:Or10ak14
|
APN |
4 |
118,610,959 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02726:Or10ak14
|
APN |
4 |
118,610,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02928:Or10ak14
|
APN |
4 |
118,611,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03102:Or10ak14
|
APN |
4 |
118,611,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0062:Or10ak14
|
UTSW |
4 |
118,611,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0062:Or10ak14
|
UTSW |
4 |
118,611,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0299:Or10ak14
|
UTSW |
4 |
118,611,732 (GRCm39) |
start codon destroyed |
probably null |
0.82 |
|
R0501:Or10ak14
|
UTSW |
4 |
118,611,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1301:Or10ak14
|
UTSW |
4 |
118,610,816 (GRCm39) |
missense |
probably benign |
|
|
R1719:Or10ak14
|
UTSW |
4 |
118,610,797 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2327:Or10ak14
|
UTSW |
4 |
118,611,331 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3110:Or10ak14
|
UTSW |
4 |
118,611,421 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3112:Or10ak14
|
UTSW |
4 |
118,611,421 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4615:Or10ak14
|
UTSW |
4 |
118,611,334 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5640:Or10ak14
|
UTSW |
4 |
118,610,986 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6513:Or10ak14
|
UTSW |
4 |
118,611,224 (GRCm39) |
nonsense |
probably null |
|
|
R6889:Or10ak14
|
UTSW |
4 |
118,611,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7157:Or10ak14
|
UTSW |
4 |
118,611,615 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7168:Or10ak14
|
UTSW |
4 |
118,611,048 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7378:Or10ak14
|
UTSW |
4 |
118,611,372 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7451:Or10ak14
|
UTSW |
4 |
118,610,884 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7770:Or10ak14
|
UTSW |
4 |
118,611,254 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7847:Or10ak14
|
UTSW |
4 |
118,611,565 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8839:Or10ak14
|
UTSW |
4 |
118,611,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8942:Or10ak14
|
UTSW |
4 |
118,611,594 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9274:Or10ak14
|
UTSW |
4 |
118,610,883 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTGAGATCTGCTTGTCTCTC -3'
(R):5'- GTGCATACGATTGGCAGCAG -3'
Sequencing Primer
(F):5'- GTCTCTCTCAGGGGAGTAGC -3'
(R):5'- CAGCAGGGACTTGGATCTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation