Incidental Mutation 'IGL01093:Or6c74'
| ID |
52081 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or6c74
|
| Ensembl Gene |
ENSMUSG00000044897 |
| Gene Name |
olfactory receptor family 6 subfamily C member 74 |
| Synonyms |
GA_x6K02T2PULF-11704843-11705775, Olfr821, MOR109-1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.309)
|
| Stock # |
IGL01093
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
129869497-129870429 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129869761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 89
(T89A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054364]
[ENSMUST00000205181]
[ENSMUST00000214177]
|
| AlphaFold |
Q8VG45 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054364
AA Change: T89A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000056626
Gene: ENSMUSG00000044897
AA Change: T89A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
305 |
5.2e-50 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
3.4e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205181
AA Change: T89A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000144938
Gene: ENSMUSG00000044897
AA Change: T89A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
305 |
5.2e-50 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
3.4e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214177
AA Change: T89A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| 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 |
|---|
| Akr1c21 |
C |
T |
13: 4,631,139 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,482,400 (GRCm39) |
L69P |
probably damaging |
Het |
| C3 |
G |
T |
17: 57,530,949 (GRCm39) |
P384Q |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,928,581 (GRCm39) |
E953G |
probably damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,619,156 (GRCm39) |
T281A |
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,821,081 (GRCm39) |
E1269K |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,145,611 (GRCm39) |
R1012G |
probably benign |
Het |
| Fbxw24 |
T |
A |
9: 109,434,041 (GRCm39) |
Q423L |
probably benign |
Het |
| Flg2 |
T |
C |
3: 93,109,678 (GRCm39) |
S569P |
unknown |
Het |
| Ier5 |
A |
G |
1: 154,975,139 (GRCm39) |
I13T |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 23,429,337 (GRCm39) |
D1564G |
possibly damaging |
Het |
| Lcn5 |
T |
C |
2: 25,550,729 (GRCm39) |
V139A |
probably benign |
Het |
| Naca |
A |
G |
10: 127,883,982 (GRCm39) |
S2138G |
probably damaging |
Het |
| Or1j15 |
T |
G |
2: 36,458,838 (GRCm39) |
V76G |
probably damaging |
Het |
| Or5p59 |
T |
A |
7: 107,702,851 (GRCm39) |
S112T |
probably benign |
Het |
| Or5w14 |
T |
G |
2: 87,541,477 (GRCm39) |
M258L |
possibly damaging |
Het |
| Or6c66 |
A |
C |
10: 129,461,432 (GRCm39) |
F166C |
probably damaging |
Het |
| Pcdhgb8 |
A |
G |
18: 37,958,089 (GRCm39) |
T813A |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,851,345 (GRCm39) |
T696A |
probably benign |
Het |
| Rif1 |
T |
G |
2: 51,985,960 (GRCm39) |
H648Q |
probably damaging |
Het |
| Secisbp2l |
C |
A |
2: 125,582,245 (GRCm39) |
K1070N |
probably benign |
Het |
| Spock3 |
G |
A |
8: 63,801,993 (GRCm39) |
R327Q |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,768,114 (GRCm39) |
I795T |
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,414,726 (GRCm39) |
I1128V |
probably benign |
Het |
| Vmn1r225 |
A |
T |
17: 20,723,081 (GRCm39) |
D174V |
probably damaging |
Het |
| Xpnpep3 |
T |
A |
15: 81,320,969 (GRCm39) |
Y283N |
possibly damaging |
Het |
| Zfp9 |
C |
T |
6: 118,442,800 (GRCm39) |
A99T |
probably benign |
Het |
| Zfp944 |
A |
G |
17: 22,562,615 (GRCm39) |
|
probably benign |
Het |
| Zscan4c |
G |
A |
7: 10,743,544 (GRCm39) |
C381Y |
probably benign |
Het |
|
| Other mutations in Or6c74 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01554:Or6c74
|
APN |
10 |
129,870,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Or6c74
|
UTSW |
10 |
129,870,187 (GRCm39) |
nonsense |
probably null |
|
|
R1968:Or6c74
|
UTSW |
10 |
129,869,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6889:Or6c74
|
UTSW |
10 |
129,870,401 (GRCm39) |
missense |
probably benign |
|
|
R6894:Or6c74
|
UTSW |
10 |
129,870,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6960:Or6c74
|
UTSW |
10 |
129,869,972 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7140:Or6c74
|
UTSW |
10 |
129,870,083 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7828:Or6c74
|
UTSW |
10 |
129,869,756 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9722:Or6c74
|
UTSW |
10 |
129,869,500 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Or6c74
|
UTSW |
10 |
129,869,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation