Incidental Mutation 'IGL01751:Or5d43'
| ID |
153126 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5d43
|
| Ensembl Gene |
ENSMUSG00000075132 |
| Gene Name |
olfactory receptor family 5 subfamily D member 43 |
| Synonyms |
MOR174-20_p, GA_x6K02T2Q125-49759783-49758845, Olfr1173 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL01751
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
88104453-88105391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88104977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 139
(C139S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099830]
[ENSMUST00000216887]
|
| AlphaFold |
Q7TR24 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099830
AA Change: C139S
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097418
Gene: ENSMUSG00000075132
AA Change: C139S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
1.6e-46 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
1.3e-13 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216887
AA Change: C139S
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,979,981 (GRCm39) |
|
probably null |
Het |
| Abtb3 |
C |
A |
10: 85,490,366 (GRCm39) |
Q1011K |
probably damaging |
Het |
| Aoc1l2 |
A |
T |
6: 48,907,522 (GRCm39) |
H174L |
possibly damaging |
Het |
| Auts2 |
G |
T |
5: 131,501,198 (GRCm39) |
Q72K |
probably damaging |
Het |
| Ccdc7b |
A |
T |
8: 129,863,049 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,342,372 (GRCm39) |
E1555G |
probably benign |
Het |
| Gm5263 |
T |
G |
1: 146,296,302 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5828 |
A |
G |
1: 16,840,208 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6605 |
T |
C |
7: 38,147,630 (GRCm39) |
|
noncoding transcript |
Het |
| Gvin3 |
T |
A |
7: 106,201,516 (GRCm39) |
N576I |
possibly damaging |
Het |
| Hps3 |
T |
C |
3: 20,065,130 (GRCm39) |
D638G |
probably damaging |
Het |
| Igdcc4 |
A |
T |
9: 65,039,014 (GRCm39) |
N887I |
probably damaging |
Het |
| Itpkc |
G |
A |
7: 26,912,491 (GRCm39) |
|
probably benign |
Het |
| Mfge8 |
A |
G |
7: 78,786,403 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
G |
T |
11: 105,216,560 (GRCm39) |
L116F |
probably benign |
Het |
| Necab1 |
T |
C |
4: 14,978,171 (GRCm39) |
D226G |
probably damaging |
Het |
| Neurod2 |
T |
C |
11: 98,218,201 (GRCm39) |
E321G |
possibly damaging |
Het |
| Obp2b |
G |
T |
2: 25,627,760 (GRCm39) |
V59L |
possibly damaging |
Het |
| Olr1 |
T |
C |
6: 129,465,811 (GRCm39) |
N65S |
possibly damaging |
Het |
| Or14c39 |
A |
T |
7: 86,343,997 (GRCm39) |
Q111L |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Rock1 |
A |
G |
18: 10,079,113 (GRCm39) |
|
probably null |
Het |
| Scn3a |
T |
A |
2: 65,291,596 (GRCm39) |
M1717L |
possibly damaging |
Het |
| Smg7 |
T |
C |
1: 152,719,812 (GRCm39) |
D903G |
possibly damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Ttll9 |
A |
T |
2: 152,825,025 (GRCm39) |
N68I |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,567,943 (GRCm39) |
V25904A |
possibly damaging |
Het |
| Uaca |
G |
A |
9: 60,777,139 (GRCm39) |
V507M |
probably damaging |
Het |
| Vmn1r195 |
G |
T |
13: 22,463,421 (GRCm39) |
C297F |
probably benign |
Het |
| Zdhhc2 |
G |
A |
8: 40,926,042 (GRCm39) |
A346T |
probably benign |
Het |
|
| Other mutations in Or5d43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01079:Or5d43
|
APN |
2 |
88,105,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02009:Or5d43
|
APN |
2 |
88,105,056 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02148:Or5d43
|
APN |
2 |
88,104,566 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02833:Or5d43
|
APN |
2 |
88,104,776 (GRCm39) |
missense |
probably benign |
|
|
IGL03001:Or5d43
|
APN |
2 |
88,105,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0471:Or5d43
|
UTSW |
2 |
88,104,559 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2136:Or5d43
|
UTSW |
2 |
88,104,584 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2141:Or5d43
|
UTSW |
2 |
88,105,354 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3957:Or5d43
|
UTSW |
2 |
88,105,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Or5d43
|
UTSW |
2 |
88,105,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Or5d43
|
UTSW |
2 |
88,105,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5266:Or5d43
|
UTSW |
2 |
88,104,565 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5371:Or5d43
|
UTSW |
2 |
88,104,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5775:Or5d43
|
UTSW |
2 |
88,105,045 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7222:Or5d43
|
UTSW |
2 |
88,104,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7493:Or5d43
|
UTSW |
2 |
88,105,445 (GRCm39) |
start gained |
probably benign |
|
|
R7503:Or5d43
|
UTSW |
2 |
88,105,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7586:Or5d43
|
UTSW |
2 |
88,104,794 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8192:Or5d43
|
UTSW |
2 |
88,105,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8354:Or5d43
|
UTSW |
2 |
88,105,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8530:Or5d43
|
UTSW |
2 |
88,105,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9235:Or5d43
|
UTSW |
2 |
88,104,724 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2014-02-04 |
Incidental Mutation