Incidental Mutation 'IGL00907:Or5p56'
| ID |
27782 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5p56
|
| Ensembl Gene |
ENSMUSG00000096151 |
| Gene Name |
olfactory receptor family 5 subfamily P member 56 |
| Synonyms |
Olfr477, GA_x6K02T2PBJ9-10319672-10320604, MOR204-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
IGL00907
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
107589574-107590506 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107590097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 175
(D175V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091605]
[ENSMUST00000214677]
|
| AlphaFold |
Q8VGI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091605
AA Change: D175V
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000091654
Gene: ENSMUSG00000096151
AA Change: D175V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
8e-52 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.9e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214677
AA Change: D175V
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| 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 |
|---|
| Armt1 |
A |
G |
10: 4,454,051 (GRCm38) |
F379V |
possibly damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,694,776 (GRCm39) |
D502G |
possibly damaging |
Het |
| Brwd3 |
A |
G |
X: 107,827,852 (GRCm39) |
|
probably benign |
Het |
| Ccdc171 |
T |
A |
4: 83,782,486 (GRCm39) |
H1259Q |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,840,435 (GRCm39) |
I1401T |
probably damaging |
Het |
| Csf1 |
T |
C |
3: 107,657,662 (GRCm39) |
N76S |
probably damaging |
Het |
| Dld |
A |
G |
12: 31,382,329 (GRCm39) |
|
probably benign |
Het |
| Eif5 |
T |
A |
12: 111,506,989 (GRCm39) |
I141N |
probably damaging |
Het |
| Etl4 |
G |
A |
2: 20,771,289 (GRCm39) |
G674D |
possibly damaging |
Het |
| Fam234a |
G |
A |
17: 26,432,500 (GRCm39) |
R550W |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,795,208 (GRCm39) |
S347P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hsd17b2 |
A |
T |
8: 118,461,433 (GRCm39) |
I157L |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,572,384 (GRCm39) |
S1269P |
possibly damaging |
Het |
| Igsf3 |
T |
C |
3: 101,334,764 (GRCm39) |
|
probably benign |
Het |
| Kin |
G |
A |
2: 10,085,515 (GRCm39) |
R25H |
probably damaging |
Het |
| Kin |
T |
C |
2: 10,085,517 (GRCm39) |
W26R |
probably damaging |
Het |
| Kir3dl1 |
G |
A |
X: 135,425,911 (GRCm39) |
C95Y |
probably damaging |
Het |
| Lamc2 |
A |
G |
1: 153,020,397 (GRCm39) |
V383A |
probably benign |
Het |
| Mael |
A |
G |
1: 166,032,418 (GRCm39) |
Y314H |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,474,590 (GRCm39) |
V794A |
possibly damaging |
Het |
| Nr4a2 |
T |
A |
2: 56,999,229 (GRCm39) |
I340F |
probably damaging |
Het |
| Or4c103 |
A |
G |
2: 88,513,638 (GRCm39) |
V146A |
probably benign |
Het |
| Or7g21 |
T |
A |
9: 19,032,528 (GRCm39) |
D89E |
possibly damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,096,003 (GRCm39) |
V641A |
probably benign |
Het |
| Phf24 |
C |
T |
4: 42,938,667 (GRCm39) |
T264I |
probably benign |
Het |
| Sars2 |
G |
T |
7: 28,452,848 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
C |
2: 66,158,141 (GRCm39) |
S411A |
probably damaging |
Het |
| Srsf5 |
T |
C |
12: 80,994,608 (GRCm39) |
V112A |
probably damaging |
Het |
| Susd2 |
T |
C |
10: 75,476,765 (GRCm39) |
N206S |
probably benign |
Het |
| Thrap3 |
C |
T |
4: 126,059,371 (GRCm39) |
G892S |
probably benign |
Het |
| Ttc32 |
T |
A |
12: 9,084,953 (GRCm39) |
Y58N |
probably damaging |
Het |
|
| Other mutations in Or5p56 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01078:Or5p56
|
APN |
7 |
107,590,150 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01141:Or5p56
|
APN |
7 |
107,589,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02613:Or5p56
|
APN |
7 |
107,590,381 (GRCm39) |
nonsense |
probably null |
|
|
R0625:Or5p56
|
UTSW |
7 |
107,590,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0791:Or5p56
|
UTSW |
7 |
107,589,740 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1254:Or5p56
|
UTSW |
7 |
107,589,647 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1456:Or5p56
|
UTSW |
7 |
107,589,605 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1522:Or5p56
|
UTSW |
7 |
107,589,740 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1541:Or5p56
|
UTSW |
7 |
107,590,048 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2889:Or5p56
|
UTSW |
7 |
107,589,784 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5653:Or5p56
|
UTSW |
7 |
107,589,592 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6146:Or5p56
|
UTSW |
7 |
107,589,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Or5p56
|
UTSW |
7 |
107,590,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7103:Or5p56
|
UTSW |
7 |
107,589,805 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7191:Or5p56
|
UTSW |
7 |
107,589,853 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7553:Or5p56
|
UTSW |
7 |
107,589,682 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7681:Or5p56
|
UTSW |
7 |
107,590,355 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1088:Or5p56
|
UTSW |
7 |
107,589,938 (GRCm39) |
missense |
probably benign |
0.42 |
|
Z1177:Or5p56
|
UTSW |
7 |
107,590,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation