Incidental Mutation 'IGL03374:Or14a258'
| ID |
420408 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or14a258
|
| Ensembl Gene |
ENSMUSG00000062426 |
| Gene Name |
olfactory receptor family 14 subfamily A member 258 |
| Synonyms |
GA_x6K02T2NHDJ-9721756-9722757, MOR219-3P, Olfr304 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL03374
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
86034865-86035866 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86035574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 98
(Q98L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077210]
|
| AlphaFold |
Q7TS03 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077210
AA Change: Q98L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076449
Gene: ENSMUSG00000062426
AA Change: Q98L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
8.9e-38 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
1.1e-21 |
PFAM |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox3 |
G |
A |
1: 58,211,007 (GRCm39) |
R917Q |
probably damaging |
Het |
| Atl1 |
T |
C |
12: 70,002,141 (GRCm39) |
Y367H |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,511,062 (GRCm39) |
E175G |
possibly damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,561,821 (GRCm39) |
D800E |
probably damaging |
Het |
| Cdon |
T |
A |
9: 35,389,299 (GRCm39) |
F801L |
possibly damaging |
Het |
| Dcaf13 |
C |
T |
15: 39,008,543 (GRCm39) |
Q382* |
probably null |
Het |
| Dpy19l3 |
T |
C |
7: 35,411,633 (GRCm39) |
N367S |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,714,111 (GRCm39) |
S3P |
possibly damaging |
Het |
| Fhip1b |
T |
C |
7: 105,033,158 (GRCm39) |
E57G |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,267,624 (GRCm39) |
|
probably benign |
Het |
| Gcnt3 |
A |
T |
9: 69,941,695 (GRCm39) |
M291K |
possibly damaging |
Het |
| Glg1 |
T |
C |
8: 111,889,412 (GRCm39) |
D927G |
probably damaging |
Het |
| Gm5862 |
C |
A |
5: 26,224,510 (GRCm39) |
R153L |
probably damaging |
Het |
| Gucy2c |
T |
C |
6: 136,742,628 (GRCm39) |
T237A |
probably benign |
Het |
| Helz |
A |
T |
11: 107,510,973 (GRCm39) |
I610F |
probably damaging |
Het |
| Hpd |
T |
C |
5: 123,310,108 (GRCm39) |
E372G |
probably damaging |
Het |
| Hsd17b13 |
A |
G |
5: 104,124,964 (GRCm39) |
|
probably benign |
Het |
| Klhl32 |
G |
A |
4: 24,649,533 (GRCm39) |
|
probably benign |
Het |
| Krt74 |
T |
A |
15: 101,668,937 (GRCm39) |
|
noncoding transcript |
Het |
| Nopchap1 |
G |
A |
10: 83,201,571 (GRCm39) |
V115M |
probably damaging |
Het |
| Or9g4b |
T |
C |
2: 85,616,053 (GRCm39) |
L66P |
probably damaging |
Het |
| Phyhipl |
A |
G |
10: 70,401,109 (GRCm39) |
V163A |
possibly damaging |
Het |
| Pknox2 |
T |
A |
9: 36,834,966 (GRCm39) |
T168S |
probably damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,269,046 (GRCm39) |
|
probably benign |
Het |
| Sgce |
G |
A |
6: 4,689,718 (GRCm39) |
R372* |
probably null |
Het |
| Stard5 |
T |
C |
7: 83,285,980 (GRCm39) |
S102P |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,121,360 (GRCm39) |
K5941R |
possibly damaging |
Het |
| Tas2r124 |
A |
T |
6: 132,732,081 (GRCm39) |
H130L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,546,027 (GRCm39) |
E32462G |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,415,974 (GRCm39) |
S1647P |
probably damaging |
Het |
| Ube2d3 |
A |
G |
3: 135,165,844 (GRCm39) |
|
probably null |
Het |
| Vps13d |
G |
T |
4: 144,835,145 (GRCm39) |
H1561Q |
possibly damaging |
Het |
|
| Other mutations in Or14a258 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01391:Or14a258
|
APN |
7 |
86,035,208 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02152:Or14a258
|
APN |
7 |
86,035,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02540:Or14a258
|
APN |
7 |
86,035,386 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03108:Or14a258
|
APN |
7 |
86,034,929 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0040:Or14a258
|
UTSW |
7 |
86,035,715 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0130:Or14a258
|
UTSW |
7 |
86,035,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Or14a258
|
UTSW |
7 |
86,035,582 (GRCm39) |
nonsense |
probably null |
|
|
R0267:Or14a258
|
UTSW |
7 |
86,035,475 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1026:Or14a258
|
UTSW |
7 |
86,035,467 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1865:Or14a258
|
UTSW |
7 |
86,035,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2090:Or14a258
|
UTSW |
7 |
86,035,289 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3607:Or14a258
|
UTSW |
7 |
86,034,903 (GRCm39) |
missense |
probably benign |
|
|
R3861:Or14a258
|
UTSW |
7 |
86,035,331 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R3909:Or14a258
|
UTSW |
7 |
86,035,182 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4113:Or14a258
|
UTSW |
7 |
86,035,733 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5268:Or14a258
|
UTSW |
7 |
86,034,867 (GRCm39) |
makesense |
probably null |
|
|
R5649:Or14a258
|
UTSW |
7 |
86,035,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6343:Or14a258
|
UTSW |
7 |
86,035,059 (GRCm39) |
nonsense |
probably null |
|
|
R7716:Or14a258
|
UTSW |
7 |
86,035,262 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8118:Or14a258
|
UTSW |
7 |
86,034,976 (GRCm39) |
nonsense |
probably null |
|
|
R9047:Or14a258
|
UTSW |
7 |
86,035,248 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9503:Or14a258
|
UTSW |
7 |
86,035,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9528:Or14a258
|
UTSW |
7 |
86,035,059 (GRCm39) |
nonsense |
probably null |
|
|
X0054:Or14a258
|
UTSW |
7 |
86,034,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0063:Or14a258
|
UTSW |
7 |
86,035,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Or14a258
|
UTSW |
7 |
86,035,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation