Incidental Mutation 'IGL01305:Or4k47'
ID |
73391 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or4k47
|
Ensembl Gene |
ENSMUSG00000094858 |
Gene Name |
olfactory receptor family 4 subfamily K member 47 |
Synonyms |
GA_x6K02T2Q125-72673494-72672556, Olfr1297, MOR248-4 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
IGL01305
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
111451479-111452417 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 111451546 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 291
(N291S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150543
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099612]
[ENSMUST00000207283]
[ENSMUST00000213398]
|
AlphaFold |
Q8VGE8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099612
AA Change: N291S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097207 Gene: ENSMUSG00000094858 AA Change: N291S
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
304 |
4.8e-48 |
PFAM |
Pfam:7tm_1
|
41 |
287 |
6.7e-19 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207283
AA Change: N291S
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213398
AA Change: N291S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco2 |
A |
G |
15: 81,797,915 (GRCm39) |
E663G |
possibly damaging |
Het |
Adam29 |
T |
A |
8: 56,324,879 (GRCm39) |
H525L |
probably benign |
Het |
Adamts6 |
T |
A |
13: 104,526,590 (GRCm39) |
V506E |
probably damaging |
Het |
Ankfy1 |
G |
A |
11: 72,655,617 (GRCm39) |
E1101K |
probably damaging |
Het |
Arap3 |
C |
T |
18: 38,124,380 (GRCm39) |
|
probably null |
Het |
Asxl3 |
T |
A |
18: 22,649,503 (GRCm39) |
H497Q |
probably benign |
Het |
Caln1 |
A |
G |
5: 130,698,392 (GRCm39) |
E96G |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,148,403 (GRCm39) |
T2653A |
probably damaging |
Het |
Cdk5rap2 |
T |
A |
4: 70,298,472 (GRCm39) |
I87F |
possibly damaging |
Het |
Chi3l1 |
A |
G |
1: 134,110,554 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
A |
G |
4: 63,218,978 (GRCm39) |
|
probably benign |
Het |
Crybg3 |
T |
A |
16: 59,349,590 (GRCm39) |
H934L |
probably damaging |
Het |
Cyp2d22 |
G |
A |
15: 82,255,869 (GRCm39) |
T461I |
probably damaging |
Het |
Dhcr24 |
T |
C |
4: 106,429,475 (GRCm39) |
F183L |
possibly damaging |
Het |
Dnajc13 |
T |
C |
9: 104,107,836 (GRCm39) |
|
probably null |
Het |
Dusp16 |
A |
T |
6: 134,695,824 (GRCm39) |
S336T |
probably benign |
Het |
F930017D23Rik |
T |
G |
10: 43,480,371 (GRCm39) |
|
noncoding transcript |
Het |
Fasl |
A |
G |
1: 161,609,407 (GRCm39) |
V193A |
probably damaging |
Het |
Fgf5 |
T |
C |
5: 98,423,175 (GRCm39) |
Y187H |
probably damaging |
Het |
Focad |
C |
A |
4: 88,311,784 (GRCm39) |
Q1423K |
probably benign |
Het |
Gabrp |
T |
C |
11: 33,505,055 (GRCm39) |
T249A |
probably damaging |
Het |
Galnt5 |
A |
T |
2: 57,915,354 (GRCm39) |
K637* |
probably null |
Het |
Gm20479 |
G |
A |
7: 27,056,812 (GRCm39) |
R2525* |
probably null |
Het |
Grm6 |
A |
T |
11: 50,750,346 (GRCm39) |
D503V |
probably benign |
Het |
Hmg20a |
A |
T |
9: 56,394,934 (GRCm39) |
D216V |
probably damaging |
Het |
Lyst |
C |
T |
13: 13,852,641 (GRCm39) |
R2214C |
probably benign |
Het |
Micu2 |
T |
A |
14: 58,181,082 (GRCm39) |
D184V |
probably damaging |
Het |
Nabp2 |
T |
A |
10: 128,244,631 (GRCm39) |
I52F |
probably damaging |
Het |
Nat8f7 |
A |
T |
6: 85,684,570 (GRCm39) |
L90* |
probably null |
Het |
Or2z2 |
A |
T |
11: 58,346,088 (GRCm39) |
M229K |
probably damaging |
Het |
Pphln1 |
A |
G |
15: 93,386,985 (GRCm39) |
E273G |
probably damaging |
Het |
Ppil1 |
C |
A |
17: 29,482,862 (GRCm39) |
V14F |
possibly damaging |
Het |
Relt |
A |
T |
7: 100,500,905 (GRCm39) |
L28Q |
probably damaging |
Het |
Rpl21 |
A |
G |
5: 146,770,996 (GRCm39) |
|
probably benign |
Het |
Rrp36 |
A |
T |
17: 46,979,017 (GRCm39) |
|
probably benign |
Het |
Skic8 |
C |
A |
9: 54,635,470 (GRCm39) |
V44L |
probably damaging |
Het |
St8sia5 |
G |
A |
18: 77,342,358 (GRCm39) |
G320D |
probably damaging |
Het |
Taf2 |
T |
C |
15: 54,911,670 (GRCm39) |
E582G |
probably damaging |
Het |
Tas2r116 |
T |
A |
6: 132,832,406 (GRCm39) |
N2K |
probably benign |
Het |
Tmem168 |
A |
T |
6: 13,583,045 (GRCm39) |
V612E |
probably damaging |
Het |
Unc79 |
A |
G |
12: 102,968,130 (GRCm39) |
S119G |
probably damaging |
Het |
Washc5 |
T |
A |
15: 59,227,688 (GRCm39) |
K425* |
probably null |
Het |
Wtap |
G |
T |
17: 13,186,782 (GRCm39) |
T255K |
probably benign |
Het |
Zfp148 |
T |
C |
16: 33,277,313 (GRCm39) |
V134A |
probably benign |
Het |
|
Other mutations in Or4k47 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01068:Or4k47
|
APN |
2 |
111,451,685 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01903:Or4k47
|
APN |
2 |
111,452,003 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01984:Or4k47
|
APN |
2 |
111,451,927 (GRCm39) |
missense |
probably benign |
0.34 |
IGL03065:Or4k47
|
APN |
2 |
111,451,535 (GRCm39) |
missense |
probably damaging |
0.98 |
ANU22:Or4k47
|
UTSW |
2 |
111,451,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R0313:Or4k47
|
UTSW |
2 |
111,451,945 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0615:Or4k47
|
UTSW |
2 |
111,452,264 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1028:Or4k47
|
UTSW |
2 |
111,451,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R1078:Or4k47
|
UTSW |
2 |
111,451,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R1158:Or4k47
|
UTSW |
2 |
111,452,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R1419:Or4k47
|
UTSW |
2 |
111,451,640 (GRCm39) |
missense |
probably benign |
0.05 |
R1980:Or4k47
|
UTSW |
2 |
111,451,586 (GRCm39) |
missense |
probably benign |
0.00 |
R1981:Or4k47
|
UTSW |
2 |
111,451,586 (GRCm39) |
missense |
probably benign |
0.00 |
R2044:Or4k47
|
UTSW |
2 |
111,452,159 (GRCm39) |
missense |
probably benign |
0.02 |
R2080:Or4k47
|
UTSW |
2 |
111,452,084 (GRCm39) |
missense |
probably benign |
|
R2170:Or4k47
|
UTSW |
2 |
111,451,945 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4494:Or4k47
|
UTSW |
2 |
111,451,493 (GRCm39) |
nonsense |
probably null |
|
R4965:Or4k47
|
UTSW |
2 |
111,451,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R5175:Or4k47
|
UTSW |
2 |
111,451,771 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5891:Or4k47
|
UTSW |
2 |
111,451,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R6192:Or4k47
|
UTSW |
2 |
111,451,520 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6383:Or4k47
|
UTSW |
2 |
111,451,531 (GRCm39) |
missense |
probably benign |
0.10 |
R6730:Or4k47
|
UTSW |
2 |
111,452,080 (GRCm39) |
missense |
probably damaging |
0.96 |
R7189:Or4k47
|
UTSW |
2 |
111,451,538 (GRCm39) |
missense |
probably benign |
0.03 |
R7193:Or4k47
|
UTSW |
2 |
111,451,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R7199:Or4k47
|
UTSW |
2 |
111,451,538 (GRCm39) |
missense |
probably benign |
0.01 |
R7735:Or4k47
|
UTSW |
2 |
111,451,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R8017:Or4k47
|
UTSW |
2 |
111,452,412 (GRCm39) |
missense |
probably benign |
0.00 |
R8019:Or4k47
|
UTSW |
2 |
111,452,412 (GRCm39) |
missense |
probably benign |
0.00 |
R8285:Or4k47
|
UTSW |
2 |
111,452,390 (GRCm39) |
missense |
probably benign |
0.32 |
R8419:Or4k47
|
UTSW |
2 |
111,451,849 (GRCm39) |
missense |
probably benign |
0.10 |
R9258:Or4k47
|
UTSW |
2 |
111,452,329 (GRCm39) |
missense |
possibly damaging |
0.77 |
X0063:Or4k47
|
UTSW |
2 |
111,451,726 (GRCm39) |
missense |
probably benign |
0.04 |
Z1176:Or4k47
|
UTSW |
2 |
111,451,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |