Incidental Mutation 'IGL01915:Or4d11'
| ID |
179906 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4d11
|
| Ensembl Gene |
ENSMUSG00000067529 |
| Gene Name |
olfactory receptor family 4 subfamily D member 11 |
| Synonyms |
MOR239-3, GA_x6K02T2RE5P-2393361-2392429, Olfr1423 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.373)
|
| Stock # |
IGL01915
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
12013172-12014104 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12013461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 215
(L215Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150649
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087831]
[ENSMUST00000214472]
|
| AlphaFold |
Q8VFV0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087831
AA Change: L215Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085134
Gene: ENSMUSG00000067529
AA Change: L215Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
304 |
2.7e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
2.5e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207831
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214472
AA Change: L215Q
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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
T |
C |
13: 23,607,938 (GRCm39) |
E22G |
unknown |
Het |
| Aoc1l2 |
T |
A |
6: 48,908,582 (GRCm39) |
D527E |
probably damaging |
Het |
| Atp11b |
T |
G |
3: 35,885,612 (GRCm39) |
H668Q |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,938,715 (GRCm39) |
V2687D |
probably benign |
Het |
| Cadm3 |
T |
C |
1: 173,168,675 (GRCm39) |
T298A |
possibly damaging |
Het |
| Car12 |
G |
A |
9: 66,670,552 (GRCm39) |
A174T |
possibly damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,904,544 (GRCm39) |
L380P |
probably damaging |
Het |
| Col7a1 |
A |
T |
9: 108,784,813 (GRCm39) |
R214W |
unknown |
Het |
| Cyp2d26 |
T |
G |
15: 82,674,450 (GRCm39) |
R477S |
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,853,780 (GRCm39) |
V541A |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,076,392 (GRCm39) |
F797I |
probably damaging |
Het |
| Dot1l |
A |
T |
10: 80,616,728 (GRCm39) |
N63I |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Ints5 |
T |
C |
19: 8,874,357 (GRCm39) |
I772T |
probably benign |
Het |
| Nosip |
T |
A |
7: 44,726,283 (GRCm39) |
I230N |
probably damaging |
Het |
| Or2r3 |
A |
T |
6: 42,448,223 (GRCm39) |
D296E |
probably benign |
Het |
| Or5ac22 |
T |
A |
16: 59,135,473 (GRCm39) |
Q99L |
probably damaging |
Het |
| Or6c210 |
G |
A |
10: 129,496,519 (GRCm39) |
M281I |
probably benign |
Het |
| Orc5 |
A |
T |
5: 22,727,381 (GRCm39) |
|
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,425,907 (GRCm39) |
I879M |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,699,370 (GRCm39) |
S1031P |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,371,725 (GRCm39) |
S2557P |
probably damaging |
Het |
| Rccd1 |
T |
C |
7: 79,969,966 (GRCm39) |
|
probably benign |
Het |
| Rsad1 |
A |
G |
11: 94,439,803 (GRCm39) |
|
probably null |
Het |
| Samd9l |
A |
T |
6: 3,373,864 (GRCm39) |
C1132* |
probably null |
Het |
| Sema6d |
A |
G |
2: 124,500,491 (GRCm39) |
|
probably benign |
Het |
| Slc10a5 |
T |
C |
3: 10,400,580 (GRCm39) |
N27D |
probably damaging |
Het |
| Slco1a5 |
C |
T |
6: 142,189,599 (GRCm39) |
M462I |
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,440,628 (GRCm39) |
T45A |
probably damaging |
Het |
| Usp21 |
T |
A |
1: 171,110,307 (GRCm39) |
Q489L |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r20 |
A |
G |
6: 123,370,924 (GRCm39) |
S519P |
possibly damaging |
Het |
|
| Other mutations in Or4d11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01333:Or4d11
|
APN |
19 |
12,013,305 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL01843:Or4d11
|
APN |
19 |
12,014,041 (GRCm39) |
missense |
probably benign |
|
|
IGL02283:Or4d11
|
APN |
19 |
12,013,219 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02807:Or4d11
|
APN |
19 |
12,013,648 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02976:Or4d11
|
APN |
19 |
12,013,337 (GRCm39) |
nonsense |
probably null |
|
|
IGL03142:Or4d11
|
APN |
19 |
12,013,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0326:Or4d11
|
UTSW |
19 |
12,013,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0369:Or4d11
|
UTSW |
19 |
12,013,765 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0614:Or4d11
|
UTSW |
19 |
12,013,929 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1940:Or4d11
|
UTSW |
19 |
12,013,275 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1978:Or4d11
|
UTSW |
19 |
12,013,705 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2013:Or4d11
|
UTSW |
19 |
12,013,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2179:Or4d11
|
UTSW |
19 |
12,013,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3972:Or4d11
|
UTSW |
19 |
12,013,383 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5051:Or4d11
|
UTSW |
19 |
12,013,288 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5484:Or4d11
|
UTSW |
19 |
12,013,192 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5518:Or4d11
|
UTSW |
19 |
12,013,429 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5729:Or4d11
|
UTSW |
19 |
12,013,272 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6151:Or4d11
|
UTSW |
19 |
12,014,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6708:Or4d11
|
UTSW |
19 |
12,014,103 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6723:Or4d11
|
UTSW |
19 |
12,013,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7103:Or4d11
|
UTSW |
19 |
12,013,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7385:Or4d11
|
UTSW |
19 |
12,013,363 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Posted On |
2014-05-07 |
Incidental Mutation