Incidental Mutation 'IGL02990:Or4c115'
ID |
406900 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or4c115
|
Ensembl Gene |
ENSMUSG00000101480 |
Gene Name |
olfactory receptor family 4 subfamily C member 115 |
Synonyms |
Olfr1220, GA_x6K02T2Q125-50579531-50578596, MOR233-5 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
IGL02990
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
88927282-88928307 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88927473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 266
(Y266C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150812
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099789]
[ENSMUST00000099806]
[ENSMUST00000213288]
|
AlphaFold |
F7BL62 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099789
AA Change: Y266C
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000097377 Gene: ENSMUSG00000101480 AA Change: Y266C
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
41 |
315 |
4.2e-48 |
PFAM |
Pfam:7tm_1
|
51 |
298 |
4.1e-16 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099806
AA Change: Y266C
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000097394 Gene: ENSMUSG00000101480 AA Change: Y266C
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
29 |
303 |
2.5e-47 |
PFAM |
Pfam:7tm_1
|
39 |
286 |
3.2e-17 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213288
AA Change: Y266C
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12b |
G |
T |
11: 69,054,032 (GRCm39) |
V205F |
probably benign |
Het |
Ampd3 |
T |
C |
7: 110,407,170 (GRCm39) |
|
probably benign |
Het |
Arhgef18 |
G |
A |
8: 3,494,904 (GRCm39) |
V388I |
probably benign |
Het |
Atp6v1c2 |
C |
T |
12: 17,344,741 (GRCm39) |
V169I |
probably damaging |
Het |
Ccdc88b |
G |
T |
19: 6,824,777 (GRCm39) |
L1328I |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Cluh |
G |
A |
11: 74,558,591 (GRCm39) |
|
probably null |
Het |
Cpsf7 |
C |
A |
19: 10,509,159 (GRCm39) |
N23K |
probably benign |
Het |
Cyp4x1 |
A |
T |
4: 114,978,946 (GRCm39) |
F191L |
probably benign |
Het |
Dcn |
A |
G |
10: 97,345,835 (GRCm39) |
T216A |
probably benign |
Het |
Drosha |
C |
T |
15: 12,827,353 (GRCm39) |
|
probably benign |
Het |
Foxn4 |
A |
G |
5: 114,411,050 (GRCm39) |
S24P |
probably damaging |
Het |
Gm11733 |
A |
T |
11: 117,377,809 (GRCm39) |
|
probably null |
Het |
Hapln1 |
A |
C |
13: 89,749,725 (GRCm39) |
Y90S |
probably benign |
Het |
Igf2r |
C |
A |
17: 12,929,633 (GRCm39) |
|
probably benign |
Het |
Jade2 |
A |
G |
11: 51,722,074 (GRCm39) |
|
probably benign |
Het |
Kcnh7 |
A |
T |
2: 62,536,330 (GRCm39) |
L1084H |
probably benign |
Het |
Kif1a |
T |
C |
1: 92,966,985 (GRCm39) |
D1155G |
probably damaging |
Het |
Llgl2 |
A |
G |
11: 115,745,159 (GRCm39) |
M958V |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,271,740 (GRCm39) |
V4064A |
possibly damaging |
Het |
Mau2 |
A |
G |
8: 70,474,905 (GRCm39) |
|
probably benign |
Het |
Mllt10 |
T |
C |
2: 18,128,522 (GRCm39) |
|
probably benign |
Het |
Myo15a |
A |
G |
11: 60,370,266 (GRCm39) |
T1009A |
probably benign |
Het |
Myo6 |
T |
C |
9: 80,183,685 (GRCm39) |
|
probably null |
Het |
Neil2 |
G |
T |
14: 63,429,258 (GRCm39) |
H12N |
possibly damaging |
Het |
Nrde2 |
T |
C |
12: 100,108,355 (GRCm39) |
E412G |
probably damaging |
Het |
Or14j3 |
C |
T |
17: 37,900,559 (GRCm39) |
M228I |
probably benign |
Het |
Patl2 |
T |
G |
2: 121,954,978 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
T |
C |
1: 20,593,187 (GRCm39) |
H1642R |
possibly damaging |
Het |
Ppp6r1 |
A |
G |
7: 4,646,022 (GRCm39) |
I199T |
possibly damaging |
Het |
Prom2 |
T |
A |
2: 127,370,734 (GRCm39) |
T817S |
probably benign |
Het |
Slc49a4 |
C |
A |
16: 35,555,861 (GRCm39) |
V200F |
possibly damaging |
Het |
Slc9b1 |
A |
G |
3: 135,100,744 (GRCm39) |
|
probably null |
Het |
Sv2c |
A |
T |
13: 96,224,886 (GRCm39) |
I141K |
probably damaging |
Het |
Tas2r139 |
A |
T |
6: 42,118,038 (GRCm39) |
I57F |
probably damaging |
Het |
Tep1 |
A |
G |
14: 51,105,703 (GRCm39) |
S106P |
possibly damaging |
Het |
Tnni3k |
T |
C |
3: 154,663,395 (GRCm39) |
D319G |
probably benign |
Het |
Tom1l2 |
C |
T |
11: 60,121,062 (GRCm39) |
D461N |
probably damaging |
Het |
Ugt1a10 |
T |
C |
1: 87,983,601 (GRCm39) |
L133S |
probably damaging |
Het |
Usf2 |
T |
G |
7: 30,654,732 (GRCm39) |
Q161P |
probably benign |
Het |
Vmn1r15 |
A |
G |
6: 57,235,593 (GRCm39) |
T154A |
probably benign |
Het |
Vmn2r95 |
C |
A |
17: 18,672,298 (GRCm39) |
Y678* |
probably null |
Het |
|
Other mutations in Or4c115 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01761:Or4c115
|
APN |
2 |
88,927,888 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02861:Or4c115
|
APN |
2 |
88,927,801 (GRCm39) |
missense |
probably benign |
0.38 |
PIT4403001:Or4c115
|
UTSW |
2 |
88,927,420 (GRCm39) |
missense |
probably benign |
0.00 |
R0589:Or4c115
|
UTSW |
2 |
88,927,606 (GRCm39) |
missense |
probably benign |
0.01 |
R1518:Or4c115
|
UTSW |
2 |
88,927,944 (GRCm39) |
missense |
probably benign |
0.00 |
R1573:Or4c115
|
UTSW |
2 |
88,928,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R1800:Or4c115
|
UTSW |
2 |
88,928,050 (GRCm39) |
missense |
probably benign |
0.00 |
R1908:Or4c115
|
UTSW |
2 |
88,927,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R3409:Or4c115
|
UTSW |
2 |
88,927,668 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4678:Or4c115
|
UTSW |
2 |
88,927,860 (GRCm39) |
missense |
probably benign |
0.00 |
R5856:Or4c115
|
UTSW |
2 |
88,928,254 (GRCm39) |
missense |
probably benign |
|
R5888:Or4c115
|
UTSW |
2 |
88,928,269 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
R6961:Or4c115
|
UTSW |
2 |
88,928,149 (GRCm39) |
missense |
probably benign |
|
R7197:Or4c115
|
UTSW |
2 |
88,927,626 (GRCm39) |
missense |
probably benign |
0.03 |
R7455:Or4c115
|
UTSW |
2 |
88,927,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R7894:Or4c115
|
UTSW |
2 |
88,927,932 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8008:Or4c115
|
UTSW |
2 |
88,928,059 (GRCm39) |
missense |
probably benign |
0.35 |
R8139:Or4c115
|
UTSW |
2 |
88,928,187 (GRCm39) |
missense |
probably benign |
0.02 |
R8971:Or4c115
|
UTSW |
2 |
88,927,891 (GRCm39) |
nonsense |
probably null |
|
R9068:Or4c115
|
UTSW |
2 |
88,927,369 (GRCm39) |
missense |
probably benign |
0.00 |
R9290:Or4c115
|
UTSW |
2 |
88,928,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R9310:Or4c115
|
UTSW |
2 |
88,928,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R9717:Or4c115
|
UTSW |
2 |
88,927,573 (GRCm39) |
missense |
probably benign |
0.00 |
X0019:Or4c115
|
UTSW |
2 |
88,928,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |