Incidental Mutation 'IGL03167:Or14a259'
| ID |
411682 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or14a259
|
| Ensembl Gene |
ENSMUSG00000055571 |
| Gene Name |
olfactory receptor family 14 subfamily A member 259 |
| Synonyms |
GA_x6K02T2NHDJ-9744055-9745014, Olfr305, MOR219-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
IGL03167
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
86012584-86013543 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86013128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 139
(C139Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069236]
[ENSMUST00000213255]
[ENSMUST00000213869]
[ENSMUST00000216700]
|
| AlphaFold |
Q7TS02 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069236
AA Change: C139Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068650
Gene: ENSMUSG00000055571
AA Change: C139Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
2.3e-40 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
3.3e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213255
AA Change: C139Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213869
AA Change: C139Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216700
AA Change: C139Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
A |
C |
6: 34,834,594 (GRCm39) |
K921T |
possibly damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,679,894 (GRCm39) |
|
probably benign |
Het |
| Ankrd22 |
A |
T |
19: 34,143,174 (GRCm39) |
M1K |
probably null |
Het |
| Ano5 |
G |
A |
7: 51,235,259 (GRCm39) |
V698I |
probably damaging |
Het |
| Ccnh |
A |
G |
13: 85,345,685 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
A |
T |
4: 47,282,635 (GRCm39) |
I771F |
probably damaging |
Het |
| Dmrt1 |
T |
C |
19: 25,523,257 (GRCm39) |
S203P |
possibly damaging |
Het |
| Exoc5 |
A |
T |
14: 49,288,802 (GRCm39) |
V82E |
probably damaging |
Het |
| Ffar3 |
A |
T |
7: 30,554,780 (GRCm39) |
V180E |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,700,108 (GRCm39) |
S381G |
probably benign |
Het |
| Foxf1 |
C |
A |
8: 121,811,647 (GRCm39) |
Y170* |
probably null |
Het |
| Glis1 |
A |
G |
4: 107,293,102 (GRCm39) |
D75G |
possibly damaging |
Het |
| Gpr151 |
T |
C |
18: 42,711,439 (GRCm39) |
H413R |
probably benign |
Het |
| Gtf3c1 |
T |
C |
7: 125,269,752 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
A |
5: 34,976,330 (GRCm39) |
F711I |
probably damaging |
Het |
| Il1rapl1 |
A |
G |
X: 85,790,867 (GRCm39) |
I691T |
possibly damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,821,406 (GRCm39) |
Y579C |
probably benign |
Het |
| Lingo3 |
A |
G |
10: 80,671,178 (GRCm39) |
S251P |
probably damaging |
Het |
| Mbl1 |
T |
A |
14: 40,880,543 (GRCm39) |
S144T |
probably benign |
Het |
| Musk |
A |
T |
4: 58,366,821 (GRCm39) |
R462W |
possibly damaging |
Het |
| Mynn |
T |
C |
3: 30,663,191 (GRCm39) |
L373P |
probably damaging |
Het |
| Myoz2 |
G |
A |
3: 122,800,139 (GRCm39) |
R230* |
probably null |
Het |
| Nup35 |
A |
G |
2: 80,488,660 (GRCm39) |
|
probably benign |
Het |
| Or2d4 |
A |
G |
7: 106,543,852 (GRCm39) |
S119P |
probably damaging |
Het |
| Or5ak4 |
C |
T |
2: 85,161,664 (GRCm39) |
D193N |
probably benign |
Het |
| Or5m3 |
T |
A |
2: 85,838,511 (GRCm39) |
Y130* |
probably null |
Het |
| Pira2 |
A |
T |
7: 3,843,919 (GRCm39) |
S618T |
probably damaging |
Het |
| Plch1 |
G |
A |
3: 63,630,165 (GRCm39) |
|
probably benign |
Het |
| Pparg |
T |
G |
6: 115,450,188 (GRCm39) |
F396V |
probably damaging |
Het |
| Scaper |
T |
C |
9: 55,767,108 (GRCm39) |
E441G |
probably damaging |
Het |
| Serpinb2 |
T |
A |
1: 107,450,485 (GRCm39) |
C161S |
probably benign |
Het |
| Skint5 |
C |
T |
4: 113,751,047 (GRCm39) |
E333K |
unknown |
Het |
| Slc22a8 |
C |
T |
19: 8,587,322 (GRCm39) |
P461S |
probably damaging |
Het |
| Slc38a6 |
C |
T |
12: 73,397,311 (GRCm39) |
Q318* |
probably null |
Het |
| Sycp2 |
T |
C |
2: 178,021,291 (GRCm39) |
K512E |
probably damaging |
Het |
| Tas2r103 |
T |
A |
6: 133,013,623 (GRCm39) |
N148Y |
probably damaging |
Het |
| Tcf7l1 |
A |
G |
6: 72,609,979 (GRCm39) |
M257T |
possibly damaging |
Het |
| Tert |
T |
A |
13: 73,788,119 (GRCm39) |
N792K |
probably damaging |
Het |
| Thada |
A |
T |
17: 84,766,277 (GRCm39) |
V43E |
probably damaging |
Het |
| Trabd2b |
T |
C |
4: 114,467,195 (GRCm39) |
S475P |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,696,681 (GRCm39) |
V242A |
probably damaging |
Het |
| Ypel3 |
A |
T |
7: 126,379,247 (GRCm39) |
I107F |
probably damaging |
Het |
| Zfp352 |
T |
C |
4: 90,112,939 (GRCm39) |
S360P |
probably damaging |
Het |
|
| Other mutations in Or14a259 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01071:Or14a259
|
APN |
7 |
86,012,768 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02102:Or14a259
|
APN |
7 |
86,013,074 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02424:Or14a259
|
APN |
7 |
86,012,688 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02664:Or14a259
|
APN |
7 |
86,012,811 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0035:Or14a259
|
UTSW |
7 |
86,013,395 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0373:Or14a259
|
UTSW |
7 |
86,013,013 (GRCm39) |
nonsense |
probably null |
|
|
R0510:Or14a259
|
UTSW |
7 |
86,013,035 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2214:Or14a259
|
UTSW |
7 |
86,013,414 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3147:Or14a259
|
UTSW |
7 |
86,013,092 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3623:Or14a259
|
UTSW |
7 |
86,013,308 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4155:Or14a259
|
UTSW |
7 |
86,013,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4332:Or14a259
|
UTSW |
7 |
86,013,080 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4785:Or14a259
|
UTSW |
7 |
86,012,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Or14a259
|
UTSW |
7 |
86,012,952 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4871:Or14a259
|
UTSW |
7 |
86,012,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5161:Or14a259
|
UTSW |
7 |
86,013,546 (GRCm39) |
splice site |
probably null |
|
|
R5254:Or14a259
|
UTSW |
7 |
86,013,398 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6430:Or14a259
|
UTSW |
7 |
86,013,181 (GRCm39) |
nonsense |
probably null |
|
|
R7734:Or14a259
|
UTSW |
7 |
86,013,476 (GRCm39) |
missense |
not run |
|
|
R8520:Or14a259
|
UTSW |
7 |
86,013,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8682:Or14a259
|
UTSW |
7 |
86,013,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9407:Or14a259
|
UTSW |
7 |
86,013,194 (GRCm39) |
nonsense |
probably null |
|
|
R9728:Or14a259
|
UTSW |
7 |
86,012,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF010:Or14a259
|
UTSW |
7 |
86,012,594 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2016-08-02 |
Incidental Mutation