Incidental Mutation 'IGL02726:Or10ak14'
| ID |
305197 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.778)
|
| Stock # |
IGL02726
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
118610386-118614155 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118610961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 260
(Y260F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084315]
[ENSMUST00000214922]
[ENSMUST00000216559]
|
| AlphaFold |
A0A1L1SSB4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084315
AA Change: Y258F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000092427
Gene: ENSMUSG00000095218
AA Change: Y258F
| 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 benign
Transcript: ENSMUST00000214922
AA Change: Y260F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216559
AA Change: Y260F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
T |
2: 128,501,705 (GRCm39) |
M779K |
probably benign |
Het |
| Art1 |
G |
A |
7: 101,759,955 (GRCm39) |
V85M |
probably damaging |
Het |
| Atad2b |
G |
T |
12: 5,024,003 (GRCm39) |
E43* |
probably null |
Het |
| Clec4a4 |
A |
T |
6: 122,967,338 (GRCm39) |
I5F |
probably damaging |
Het |
| Cr1l |
A |
T |
1: 194,812,188 (GRCm39) |
I45N |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,676,140 (GRCm39) |
|
probably benign |
Het |
| Dnajb3 |
A |
T |
1: 88,133,372 (GRCm39) |
V10E |
probably damaging |
Het |
| Dnajc22 |
A |
T |
15: 98,998,881 (GRCm39) |
H22L |
probably damaging |
Het |
| Dnal4 |
A |
G |
15: 79,647,745 (GRCm39) |
V40A |
probably damaging |
Het |
| Dsg1b |
G |
A |
18: 20,532,542 (GRCm39) |
V529I |
probably benign |
Het |
| Elp1 |
T |
A |
4: 56,767,878 (GRCm39) |
|
probably null |
Het |
| Fam131c |
T |
A |
4: 141,110,113 (GRCm39) |
D170E |
probably benign |
Het |
| Got1 |
G |
A |
19: 43,488,851 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
A |
9: 66,349,270 (GRCm39) |
V2043E |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,532,445 (GRCm39) |
Y3147* |
probably null |
Het |
| Ifi44 |
T |
C |
3: 151,455,233 (GRCm39) |
|
probably benign |
Het |
| Il1b |
A |
T |
2: 129,209,242 (GRCm39) |
D129E |
probably damaging |
Het |
| Ino80 |
A |
T |
2: 119,272,964 (GRCm39) |
I504N |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,277,419 (GRCm39) |
I655T |
probably benign |
Het |
| Kcnk4 |
A |
G |
19: 6,904,457 (GRCm39) |
|
probably null |
Het |
| Mrgprb2 |
T |
A |
7: 48,202,618 (GRCm39) |
R36W |
probably damaging |
Het |
| Mslnl |
T |
C |
17: 25,963,077 (GRCm39) |
|
probably null |
Het |
| Or1e33 |
T |
C |
11: 73,738,691 (GRCm39) |
S87G |
probably benign |
Het |
| Or2ag1b |
A |
C |
7: 106,288,577 (GRCm39) |
Y120* |
probably null |
Het |
| Or8k16 |
G |
T |
2: 85,520,554 (GRCm39) |
L260F |
possibly damaging |
Het |
| Pcnx4 |
G |
T |
12: 72,620,986 (GRCm39) |
M935I |
probably benign |
Het |
| Pdgfra |
C |
T |
5: 75,355,618 (GRCm39) |
Q1043* |
probably null |
Het |
| Pf4 |
T |
C |
5: 90,920,523 (GRCm39) |
V28A |
probably benign |
Het |
| Piezo1 |
A |
G |
8: 123,213,894 (GRCm39) |
L1689P |
probably damaging |
Het |
| Ppa2 |
A |
G |
3: 133,076,222 (GRCm39) |
S284G |
possibly damaging |
Het |
| Pramel22 |
G |
T |
4: 143,381,955 (GRCm39) |
P247H |
probably damaging |
Het |
| Psd2 |
T |
C |
18: 36,120,355 (GRCm39) |
|
probably null |
Het |
| Rbm25 |
G |
T |
12: 83,719,626 (GRCm39) |
G549W |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,753,206 (GRCm39) |
D1705G |
probably damaging |
Het |
| Shf |
A |
T |
2: 122,189,969 (GRCm39) |
D96E |
probably damaging |
Het |
| Slc1a1 |
G |
A |
19: 28,889,169 (GRCm39) |
V481M |
probably benign |
Het |
| Slc4a9 |
T |
C |
18: 36,672,670 (GRCm39) |
V807A |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,062,356 (GRCm39) |
I4226N |
probably damaging |
Het |
| Tex56 |
A |
G |
13: 35,136,943 (GRCm39) |
|
probably benign |
Het |
| Tkfc |
A |
T |
19: 10,573,576 (GRCm39) |
V254E |
possibly damaging |
Het |
| Ubr2 |
A |
C |
17: 47,283,847 (GRCm39) |
Y601D |
probably damaging |
Het |
| Ubr5 |
A |
C |
15: 38,000,806 (GRCm39) |
|
probably benign |
Het |
| Vmn1r27 |
A |
T |
6: 58,192,854 (GRCm39) |
I50K |
possibly damaging |
Het |
| Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
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 |
|
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 |
|
R4582:Or10ak14
|
UTSW |
4 |
118,611,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation