Incidental Mutation 'IGL01819:Or4k39'
ID |
154456 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or4k39
|
Ensembl Gene |
ENSMUSG00000062280 |
Gene Name |
olfactory receptor family 4 subfamily K member 39, pseudogene 1 |
Synonyms |
GA_x6K02T2Q125-72459956-72460837, MOR248-25_p, MOR248-17P, Olfr1285 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
IGL01819
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
111238802-111239643 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 111239078 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 106
(V106E)
|
Gene Model |
predicted gene model for transcript(s):
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000150164
AA Change: V106E
PolyPhen 2
Score 0.990 (Sensitivity: 0.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121467 Gene: ENSMUSG00000062280 AA Change: V106E
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
24 |
293 |
2.9e-40 |
PFAM |
Pfam:7tm_1
|
34 |
280 |
1.8e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208523
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220153
|
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 |
Adora2b |
A |
G |
11: 62,156,010 (GRCm39) |
N153S |
possibly damaging |
Het |
Afm |
C |
T |
5: 90,672,765 (GRCm39) |
T200I |
probably benign |
Het |
Cyp2c67 |
T |
C |
19: 39,604,165 (GRCm39) |
D397G |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 65,998,952 (GRCm39) |
V1032A |
probably benign |
Het |
Elovl7 |
T |
G |
13: 108,410,854 (GRCm39) |
V143G |
probably damaging |
Het |
Fhl4 |
T |
C |
10: 84,934,734 (GRCm39) |
K16E |
probably damaging |
Het |
Golga1 |
C |
T |
2: 38,924,161 (GRCm39) |
C383Y |
probably benign |
Het |
Gucy1a2 |
C |
T |
9: 3,865,409 (GRCm39) |
R628* |
probably null |
Het |
Hectd4 |
A |
G |
5: 121,466,481 (GRCm39) |
D2432G |
possibly damaging |
Het |
Iqcf5 |
T |
A |
9: 106,393,189 (GRCm39) |
*149R |
probably null |
Het |
Kcnab1 |
T |
A |
3: 65,226,875 (GRCm39) |
Y185N |
probably damaging |
Het |
Lars1 |
G |
T |
18: 42,335,615 (GRCm39) |
T1167K |
probably benign |
Het |
Mib2 |
A |
T |
4: 155,739,715 (GRCm39) |
|
probably null |
Het |
Mrps2 |
T |
C |
2: 28,358,348 (GRCm39) |
V46A |
probably benign |
Het |
Myo18b |
T |
C |
5: 113,025,916 (GRCm39) |
T45A |
unknown |
Het |
Myo1e |
C |
T |
9: 70,250,322 (GRCm39) |
|
probably benign |
Het |
Or10ag59 |
A |
G |
2: 87,405,823 (GRCm39) |
I132V |
probably damaging |
Het |
Osbp2 |
A |
T |
11: 3,667,127 (GRCm39) |
I8N |
probably damaging |
Het |
Pcdhb22 |
A |
T |
18: 37,652,974 (GRCm39) |
N481Y |
probably damaging |
Het |
Pde3a |
T |
C |
6: 141,433,263 (GRCm39) |
W765R |
probably damaging |
Het |
Phf11c |
T |
C |
14: 59,630,586 (GRCm39) |
T40A |
probably benign |
Het |
Pih1d2 |
T |
A |
9: 50,533,177 (GRCm39) |
S268R |
probably benign |
Het |
Pkd1l2 |
T |
C |
8: 117,724,913 (GRCm39) |
N2333D |
probably damaging |
Het |
Prex1 |
A |
G |
2: 166,463,165 (GRCm39) |
I62T |
probably damaging |
Het |
Ptcd2 |
T |
C |
13: 99,463,219 (GRCm39) |
N245S |
possibly damaging |
Het |
Ripor3 |
C |
A |
2: 167,822,763 (GRCm39) |
V933F |
probably damaging |
Het |
Sanbr |
A |
G |
11: 23,534,561 (GRCm39) |
S105P |
probably benign |
Het |
Sphk2 |
A |
G |
7: 45,360,480 (GRCm39) |
|
probably null |
Het |
Tfcp2 |
T |
G |
15: 100,402,320 (GRCm39) |
E492D |
probably benign |
Het |
Ttn |
C |
T |
2: 76,629,106 (GRCm39) |
V14411I |
possibly damaging |
Het |
Utp20 |
T |
C |
10: 88,628,549 (GRCm39) |
Q915R |
probably damaging |
Het |
Vmn2r45 |
C |
A |
7: 8,488,556 (GRCm39) |
S158I |
probably benign |
Het |
|
Other mutations in Or4k39 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01328:Or4k39
|
APN |
2 |
111,239,564 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02109:Or4k39
|
APN |
2 |
111,238,838 (GRCm39) |
exon |
noncoding transcript |
|
IGL02407:Or4k39
|
APN |
2 |
111,238,923 (GRCm39) |
exon |
noncoding transcript |
|
R0054:Or4k39
|
UTSW |
2 |
111,239,140 (GRCm39) |
missense |
probably benign |
0.00 |
R1665:Or4k39
|
UTSW |
2 |
111,239,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R2339:Or4k39
|
UTSW |
2 |
111,239,534 (GRCm39) |
missense |
probably benign |
0.36 |
R3876:Or4k39
|
UTSW |
2 |
111,238,967 (GRCm39) |
missense |
possibly damaging |
0.57 |
R4260:Or4k39
|
UTSW |
2 |
111,238,850 (GRCm39) |
exon |
noncoding transcript |
|
R4439:Or4k39
|
UTSW |
2 |
111,239,653 (GRCm39) |
exon |
noncoding transcript |
|
R4762:Or4k39
|
UTSW |
2 |
111,239,225 (GRCm39) |
exon |
noncoding transcript |
|
R4821:Or4k39
|
UTSW |
2 |
111,239,570 (GRCm39) |
exon |
noncoding transcript |
|
R5120:Or4k39
|
UTSW |
2 |
111,239,585 (GRCm39) |
exon |
noncoding transcript |
|
R5215:Or4k39
|
UTSW |
2 |
111,239,631 (GRCm39) |
exon |
noncoding transcript |
|
R5244:Or4k39
|
UTSW |
2 |
111,238,899 (GRCm39) |
exon |
noncoding transcript |
|
R5667:Or4k39
|
UTSW |
2 |
111,238,818 (GRCm39) |
exon |
noncoding transcript |
|
R5671:Or4k39
|
UTSW |
2 |
111,238,818 (GRCm39) |
exon |
noncoding transcript |
|
R5687:Or4k39
|
UTSW |
2 |
111,239,033 (GRCm39) |
exon |
noncoding transcript |
|
|
Posted On |
2014-02-04 |