Incidental Mutation 'IGL00960:Or10d5j'
| ID |
28228 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or10d5j
|
| Ensembl Gene |
ENSMUSG00000047352 |
| Gene Name |
olfactory receptor family 10 subfamily D member 5J |
| Synonyms |
GA_x6K02T2PVTD-33657378-33656440, Olfr976, MOR224-10 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL00960
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
39865553-39872340 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39867455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 259
(Y259H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169307]
[ENSMUST00000213171]
[ENSMUST00000216647]
[ENSMUST00000217360]
[ENSMUST00000217630]
|
| AlphaFold |
Q8VF15 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169307
AA Change: Y271H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133083
Gene: ENSMUSG00000047352
AA Change: Y271H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
43 |
318 |
1.5e-48 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
47 |
271 |
1.1e-5 |
PFAM |
|
Pfam:7tm_1
|
53 |
300 |
2.8e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213171
AA Change: Y259H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216647
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217360
AA Change: Y259H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217630
AA Change: Y259H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
C |
A |
17: 46,634,671 (GRCm39) |
R444L |
probably damaging |
Het |
| Baiap2 |
T |
A |
11: 119,890,118 (GRCm39) |
S460T |
possibly damaging |
Het |
| Cckar |
A |
G |
5: 53,858,634 (GRCm39) |
Y158H |
probably damaging |
Het |
| Cdk4 |
A |
G |
10: 126,900,166 (GRCm39) |
Y21C |
probably damaging |
Het |
| Entpd1 |
C |
T |
19: 40,699,714 (GRCm39) |
P42S |
probably benign |
Het |
| Epha8 |
A |
T |
4: 136,679,150 (GRCm39) |
|
probably null |
Het |
| Fastkd1 |
A |
T |
2: 69,524,997 (GRCm39) |
|
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,013,494 (GRCm39) |
D951G |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kcnj5 |
T |
A |
9: 32,233,719 (GRCm39) |
T199S |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,181,866 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,466,820 (GRCm39) |
H1314Q |
possibly damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,150,811 (GRCm39) |
S795T |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,335,947 (GRCm39) |
S1042P |
probably damaging |
Het |
| Nlgn1 |
C |
A |
3: 25,966,861 (GRCm39) |
L197F |
probably damaging |
Het |
| Nsun7 |
A |
G |
5: 66,446,846 (GRCm39) |
Y428C |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,661,589 (GRCm39) |
D1453G |
probably benign |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,026 (GRCm39) |
I235F |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,725,234 (GRCm39) |
V1364A |
unknown |
Het |
| Polq |
T |
C |
16: 36,880,874 (GRCm39) |
S734P |
probably damaging |
Het |
| Sco1 |
T |
C |
11: 66,954,864 (GRCm39) |
*290Q |
probably null |
Het |
| Slc22a3 |
A |
T |
17: 12,644,497 (GRCm39) |
I496N |
probably damaging |
Het |
| Slc5a8 |
T |
G |
10: 88,757,627 (GRCm39) |
I539S |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,270,376 (GRCm39) |
F1311L |
possibly damaging |
Het |
| Tex261 |
A |
T |
6: 83,752,650 (GRCm39) |
I19N |
possibly damaging |
Het |
| Tfr2 |
T |
C |
5: 137,569,954 (GRCm39) |
V120A |
probably benign |
Het |
| Vmn2r71 |
A |
T |
7: 85,273,582 (GRCm39) |
S799C |
probably damaging |
Het |
| Zar1 |
G |
A |
5: 72,734,628 (GRCm39) |
T197I |
probably damaging |
Het |
| Zfa-ps |
A |
G |
10: 52,420,043 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Or10d5j |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02455:Or10d5j
|
APN |
9 |
39,868,198 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1191:Or10d5j
|
UTSW |
9 |
39,868,264 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R1962:Or10d5j
|
UTSW |
9 |
39,867,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2328:Or10d5j
|
UTSW |
9 |
39,868,196 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3847:Or10d5j
|
UTSW |
9 |
39,867,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4032:Or10d5j
|
UTSW |
9 |
39,867,629 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4620:Or10d5j
|
UTSW |
9 |
39,868,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5152:Or10d5j
|
UTSW |
9 |
39,868,202 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5163:Or10d5j
|
UTSW |
9 |
39,868,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5323:Or10d5j
|
UTSW |
9 |
39,868,125 (GRCm39) |
nonsense |
probably null |
|
|
R5709:Or10d5j
|
UTSW |
9 |
39,867,859 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7028:Or10d5j
|
UTSW |
9 |
39,867,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7085:Or10d5j
|
UTSW |
9 |
39,867,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7723:Or10d5j
|
UTSW |
9 |
39,867,920 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8308:Or10d5j
|
UTSW |
9 |
39,868,265 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R9193:Or10d5j
|
UTSW |
9 |
39,867,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation