Incidental Mutation 'IGL01071:Or14a259'
| ID |
51450 |
| 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 # |
IGL01071
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
86012584-86013543 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86012768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 259
(K259R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069236]
[ENSMUST00000213255]
[ENSMUST00000213869]
[ENSMUST00000216700]
|
| AlphaFold |
Q7TS02 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069236
AA Change: K259R
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000068650
Gene: ENSMUSG00000055571
AA Change: K259R
| 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 |
possibly damaging
Transcript: ENSMUST00000213255
AA Change: K259R
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213869
AA Change: K259R
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216700
AA Change: K259R
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
A |
C |
6: 65,930,137 (GRCm39) |
D124A |
probably damaging |
Het |
| Arhgef17 |
C |
A |
7: 100,534,907 (GRCm39) |
V1137L |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,873,127 (GRCm39) |
D462G |
possibly damaging |
Het |
| Birc6 |
A |
T |
17: 74,938,696 (GRCm39) |
N2701Y |
probably damaging |
Het |
| Cadps |
C |
T |
14: 12,509,091 (GRCm38) |
|
probably null |
Het |
| Camk2a |
T |
C |
18: 61,113,228 (GRCm39) |
|
probably null |
Het |
| Capn10 |
T |
A |
1: 92,872,797 (GRCm39) |
W508R |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,397,212 (GRCm39) |
|
probably null |
Het |
| Crisp4 |
A |
G |
1: 18,207,231 (GRCm39) |
V19A |
probably benign |
Het |
| Depdc1b |
A |
T |
13: 108,493,975 (GRCm39) |
Y121F |
probably benign |
Het |
| Dsg1b |
T |
A |
18: 20,542,272 (GRCm39) |
S926R |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,800,816 (GRCm39) |
|
probably null |
Het |
| Gm26938 |
A |
C |
5: 139,794,228 (GRCm39) |
V117G |
possibly damaging |
Het |
| Keg1 |
T |
A |
19: 12,696,364 (GRCm39) |
Y183N |
probably damaging |
Het |
| Mpi |
A |
T |
9: 57,457,875 (GRCm39) |
I109N |
probably damaging |
Het |
| Or12j3 |
C |
T |
7: 139,953,098 (GRCm39) |
A142T |
probably benign |
Het |
| Or13a20 |
C |
T |
7: 140,232,827 (GRCm39) |
H312Y |
possibly damaging |
Het |
| Or4c112 |
A |
G |
2: 88,853,519 (GRCm39) |
V276A |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,738 (GRCm39) |
E88G |
possibly damaging |
Het |
| Pde6b |
G |
A |
5: 108,567,581 (GRCm39) |
W290* |
probably null |
Het |
| Phf20 |
T |
A |
2: 156,136,008 (GRCm39) |
|
probably null |
Het |
| Pkd1l1 |
A |
T |
11: 8,798,921 (GRCm39) |
H1830Q |
probably benign |
Het |
| Proc |
T |
C |
18: 32,256,770 (GRCm39) |
D299G |
probably damaging |
Het |
| Psmd14 |
A |
G |
2: 61,630,407 (GRCm39) |
T306A |
probably benign |
Het |
| Rab32 |
G |
A |
10: 10,433,591 (GRCm39) |
A81V |
probably damaging |
Het |
| Samd14 |
G |
A |
11: 94,912,294 (GRCm39) |
|
probably benign |
Het |
| Sh3rf1 |
T |
A |
8: 61,678,993 (GRCm39) |
C12S |
probably damaging |
Het |
| Sipa1l3 |
C |
T |
7: 29,023,645 (GRCm39) |
V663M |
possibly damaging |
Het |
| Slc2a5 |
A |
G |
4: 150,205,190 (GRCm39) |
|
probably benign |
Het |
| Tasor |
T |
A |
14: 27,164,579 (GRCm39) |
|
probably null |
Het |
| Tbkbp1 |
T |
C |
11: 97,040,388 (GRCm39) |
I9V |
probably damaging |
Het |
| Trip10 |
C |
A |
17: 57,561,332 (GRCm39) |
R196S |
possibly damaging |
Het |
| Vav1 |
T |
C |
17: 57,606,176 (GRCm39) |
Y267H |
probably benign |
Het |
| Wdr1 |
T |
C |
5: 38,687,410 (GRCm39) |
K207R |
probably benign |
Het |
|
| Other mutations in Or14a259 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03167:Or14a259
|
APN |
7 |
86,013,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-06-21 |
Incidental Mutation