Incidental Mutation 'IGL02426:Or4k45'
| ID |
292914 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4k45
|
| Ensembl Gene |
ENSMUSG00000108919 |
| Gene Name |
olfactory receptor family 4 subfamily K member 45 |
| Synonyms |
MOR248-10, GA_x6K02T2Q125-72616944-72616006, Olfr1295 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
IGL02426
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
111394849-111395787 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111394883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 302
(I302K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207283]
[ENSMUST00000207786]
[ENSMUST00000217772]
|
| AlphaFold |
Q8VF48 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207283
AA Change: I302K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207786
AA Change: I302K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209152
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217772
AA Change: I302K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
A |
16: 20,157,675 (GRCm39) |
T1294M |
probably damaging |
Het |
| Bad |
A |
G |
19: 6,928,785 (GRCm39) |
S128G |
probably damaging |
Het |
| Casp9 |
T |
G |
4: 141,539,515 (GRCm39) |
|
probably null |
Het |
| Ccdc39 |
T |
C |
3: 33,879,547 (GRCm39) |
K507R |
possibly damaging |
Het |
| Cep76 |
A |
G |
18: 67,767,987 (GRCm39) |
S182P |
probably benign |
Het |
| Cmklr2 |
T |
C |
1: 63,222,827 (GRCm39) |
Y136C |
probably damaging |
Het |
| Cmtr2 |
A |
G |
8: 110,948,322 (GRCm39) |
M211V |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,204,351 (GRCm39) |
K777* |
probably null |
Het |
| Cul9 |
T |
G |
17: 46,834,184 (GRCm39) |
T1253P |
possibly damaging |
Het |
| Dmd |
T |
A |
X: 83,892,342 (GRCm39) |
L3002H |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 66,015,979 (GRCm39) |
V421I |
probably benign |
Het |
| Eif4a2 |
A |
G |
16: 22,929,399 (GRCm39) |
I234V |
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,421,514 (GRCm39) |
M323V |
probably benign |
Het |
| Fam47c |
A |
G |
X: 77,781,943 (GRCm39) |
D175G |
probably benign |
Het |
| Gm14178 |
T |
C |
11: 99,638,341 (GRCm39) |
|
|
Het |
| Hes3 |
T |
C |
4: 152,371,397 (GRCm39) |
N184S |
probably benign |
Het |
| Kdm6a |
A |
G |
X: 18,112,549 (GRCm39) |
E45G |
probably damaging |
Het |
| Kdr |
T |
C |
5: 76,135,126 (GRCm39) |
K33E |
probably benign |
Het |
| Or2a52 |
A |
C |
6: 43,144,022 (GRCm39) |
D10A |
probably benign |
Het |
| Or4k37 |
A |
T |
2: 111,158,920 (GRCm39) |
D52V |
probably damaging |
Het |
| Or52n4b |
A |
G |
7: 108,144,187 (GRCm39) |
T150A |
probably benign |
Het |
| Or8h7 |
A |
G |
2: 86,720,964 (GRCm39) |
L185S |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,196,296 (GRCm39) |
|
probably benign |
Het |
| Pigk |
T |
A |
3: 152,448,120 (GRCm39) |
|
probably null |
Het |
| Pikfyve |
A |
G |
1: 65,290,771 (GRCm39) |
T1197A |
possibly damaging |
Het |
| Plppr4 |
T |
C |
3: 117,115,944 (GRCm39) |
I638V |
probably benign |
Het |
| Pramel28 |
T |
C |
4: 143,693,229 (GRCm39) |
D83G |
possibly damaging |
Het |
| Rtl9 |
T |
C |
X: 141,886,098 (GRCm39) |
V1170A |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,731,250 (GRCm39) |
S687P |
possibly damaging |
Het |
| Skint5 |
T |
C |
4: 113,797,981 (GRCm39) |
T201A |
probably benign |
Het |
| Socs5 |
G |
T |
17: 87,442,320 (GRCm39) |
R420L |
probably damaging |
Het |
| Sos1 |
C |
T |
17: 80,742,372 (GRCm39) |
S385N |
possibly damaging |
Het |
| Tomm34 |
A |
T |
2: 163,906,875 (GRCm39) |
V106D |
probably damaging |
Het |
| Tubal3 |
T |
C |
13: 3,982,750 (GRCm39) |
S177P |
probably damaging |
Het |
| Wbp2nl |
G |
A |
15: 82,190,374 (GRCm39) |
A101T |
probably damaging |
Het |
|
| Other mutations in Or4k45 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02110:Or4k45
|
APN |
2 |
111,395,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02638:Or4k45
|
APN |
2 |
111,395,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02743:Or4k45
|
APN |
2 |
111,394,888 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03161:Or4k45
|
APN |
2 |
111,395,676 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
G1patch:Or4k45
|
UTSW |
2 |
111,395,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4377001:Or4k45
|
UTSW |
2 |
111,395,556 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0448:Or4k45
|
UTSW |
2 |
111,395,559 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1634:Or4k45
|
UTSW |
2 |
111,395,691 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2065:Or4k45
|
UTSW |
2 |
111,395,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5308:Or4k45
|
UTSW |
2 |
111,394,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5534:Or4k45
|
UTSW |
2 |
111,395,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5990:Or4k45
|
UTSW |
2 |
111,395,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6725:Or4k45
|
UTSW |
2 |
111,395,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7492:Or4k45
|
UTSW |
2 |
111,395,166 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8116:Or4k45
|
UTSW |
2 |
111,395,783 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8400:Or4k45
|
UTSW |
2 |
111,395,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8493:Or4k45
|
UTSW |
2 |
111,395,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9636:Or4k45
|
UTSW |
2 |
111,395,786 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9736:Or4k45
|
UTSW |
2 |
111,395,626 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2015-04-16 |
Incidental Mutation