Incidental Mutation 'IGL01415:Or4c11'
| ID |
278459 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4c11
|
| Ensembl Gene |
ENSMUSG00000062757 |
| Gene Name |
olfactory receptor family 4 subfamily C member 11 |
| Synonyms |
GA_x6K02T2Q125-50339974-50340609, Olfr1207, Olfr1206, MOR230-3, GA_x6K02T2Q125-50338497-50339264 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL01415
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
88694951-88695874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88695864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 305
(M305K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077302]
[ENSMUST00000216950]
|
| AlphaFold |
A2ATJ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077302
AA Change: M305K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000076532
Gene: ENSMUSG00000062757
AA Change: M305K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
3.2e-48 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
1.4e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216950
AA Change: M305K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| 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 |
|---|
| Ankrd44 |
T |
C |
1: 54,792,087 (GRCm39) |
H316R |
probably damaging |
Het |
| Arfgef2 |
G |
A |
2: 166,709,275 (GRCm39) |
M1117I |
probably damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,360,881 (GRCm39) |
D213G |
probably damaging |
Het |
| Cfap69 |
G |
A |
5: 5,696,979 (GRCm39) |
P106S |
probably damaging |
Het |
| Chkb |
A |
T |
15: 89,312,987 (GRCm39) |
L30H |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,079,962 (GRCm39) |
K758E |
possibly damaging |
Het |
| Clstn3 |
G |
A |
6: 124,415,781 (GRCm39) |
Q634* |
probably null |
Het |
| Efcab15 |
T |
C |
11: 103,091,754 (GRCm39) |
Q42R |
probably damaging |
Het |
| Esrra |
C |
A |
19: 6,890,100 (GRCm39) |
W98C |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,892,058 (GRCm39) |
|
probably benign |
Het |
| Gcnt3 |
G |
T |
9: 69,941,739 (GRCm39) |
H276Q |
probably benign |
Het |
| Gm16506 |
A |
G |
14: 43,961,630 (GRCm39) |
Y206H |
probably benign |
Het |
| Gvin3 |
C |
T |
7: 106,202,258 (GRCm39) |
|
noncoding transcript |
Het |
| Hkdc1 |
T |
A |
10: 62,229,638 (GRCm39) |
N680Y |
probably damaging |
Het |
| Ighe |
A |
C |
12: 113,235,011 (GRCm39) |
L383R |
unknown |
Het |
| Lgals9 |
T |
G |
11: 78,863,977 (GRCm39) |
D56A |
probably damaging |
Het |
| Marveld3 |
G |
A |
8: 110,688,705 (GRCm39) |
T12I |
possibly damaging |
Het |
| Nab2 |
A |
T |
10: 127,500,972 (GRCm39) |
L40Q |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,439,798 (GRCm39) |
E323G |
probably benign |
Het |
| Nubpl |
T |
A |
12: 52,317,853 (GRCm39) |
V182E |
possibly damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,340,706 (GRCm39) |
V145A |
probably benign |
Het |
| Or6b3 |
A |
G |
1: 92,438,974 (GRCm39) |
Y259H |
probably damaging |
Het |
| Peg3 |
A |
G |
7: 6,714,652 (GRCm39) |
I190T |
probably damaging |
Het |
| Plcl1 |
G |
A |
1: 55,735,555 (GRCm39) |
V299M |
possibly damaging |
Het |
| Ppp4r1 |
G |
A |
17: 66,120,522 (GRCm39) |
E219K |
probably damaging |
Het |
| Sh3d19 |
G |
A |
3: 86,005,492 (GRCm39) |
A280T |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,061,663 (GRCm39) |
I370V |
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,359,695 (GRCm39) |
|
probably benign |
Het |
| Ttll7 |
T |
G |
3: 146,615,354 (GRCm39) |
S273A |
possibly damaging |
Het |
| Unc79 |
A |
G |
12: 103,074,944 (GRCm39) |
N1401D |
probably damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,755 (GRCm39) |
S743T |
probably damaging |
Het |
| Zfand4 |
G |
A |
6: 116,291,830 (GRCm39) |
R588Q |
probably benign |
Het |
|
| Other mutations in Or4c11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01410:Or4c11
|
APN |
2 |
88,695,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01783:Or4c11
|
APN |
2 |
88,695,186 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4812001:Or4c11
|
UTSW |
2 |
88,695,314 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0437:Or4c11
|
UTSW |
2 |
88,695,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0561:Or4c11
|
UTSW |
2 |
88,695,024 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0669:Or4c11
|
UTSW |
2 |
88,695,272 (GRCm39) |
missense |
probably benign |
|
|
R0835:Or4c11
|
UTSW |
2 |
88,695,345 (GRCm39) |
missense |
probably benign |
|
|
R0987:Or4c11
|
UTSW |
2 |
88,695,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1271:Or4c11
|
UTSW |
2 |
88,695,475 (GRCm39) |
nonsense |
probably null |
|
|
R1386:Or4c11
|
UTSW |
2 |
88,695,697 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1618:Or4c11
|
UTSW |
2 |
88,695,871 (GRCm39) |
splice site |
probably null |
|
|
R1935:Or4c11
|
UTSW |
2 |
88,695,524 (GRCm39) |
missense |
probably benign |
|
|
R2098:Or4c11
|
UTSW |
2 |
88,695,215 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2112:Or4c11
|
UTSW |
2 |
88,695,545 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2157:Or4c11
|
UTSW |
2 |
88,695,213 (GRCm39) |
missense |
probably benign |
|
|
R2912:Or4c11
|
UTSW |
2 |
88,695,458 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2913:Or4c11
|
UTSW |
2 |
88,695,458 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4583:Or4c11
|
UTSW |
2 |
88,695,838 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4631:Or4c11
|
UTSW |
2 |
88,695,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7707:Or4c11
|
UTSW |
2 |
88,695,153 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8559:Or4c11
|
UTSW |
2 |
88,695,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9163:Or4c11
|
UTSW |
2 |
88,695,795 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9164:Or4c11
|
UTSW |
2 |
88,695,795 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9468:Or4c11
|
UTSW |
2 |
88,695,795 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Posted On |
2015-04-16 |
Incidental Mutation