Incidental Mutation 'IGL02533:Or10j3b'
ID |
297382 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or10j3b
|
Ensembl Gene |
ENSMUSG00000049456 |
Gene Name |
olfactory receptor family 10 subfamily J member 3B |
Synonyms |
GA_x6K02T2R7CC-630397-629456, Olfr1404, MOR267-2 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.505)
|
Stock # |
IGL02533
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
173043174-173044207 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 173043628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 137
(M137L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151077
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056592]
[ENSMUST00000216556]
[ENSMUST00000217374]
|
AlphaFold |
Q8VGE1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056592
AA Change: M137L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000050406 Gene: ENSMUSG00000049456 AA Change: M137L
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
32 |
309 |
7.9e-55 |
PFAM |
Pfam:7tm_1
|
42 |
291 |
1e-22 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216556
AA Change: M137L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217374
AA Change: M137L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap1m2 |
T |
C |
9: 21,207,797 (GRCm39) |
Y396C |
probably damaging |
Het |
Bach2 |
T |
C |
4: 32,562,451 (GRCm39) |
V306A |
probably benign |
Het |
Cnga4 |
T |
C |
7: 105,057,168 (GRCm39) |
Y424H |
probably damaging |
Het |
Cops9 |
T |
C |
1: 92,567,438 (GRCm39) |
E79G |
possibly damaging |
Het |
Crebbp |
T |
C |
16: 3,925,296 (GRCm39) |
N769D |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dennd4b |
A |
T |
3: 90,179,617 (GRCm39) |
H636L |
probably benign |
Het |
Dpysl3 |
T |
C |
18: 43,458,859 (GRCm39) |
T632A |
probably benign |
Het |
Gabbr1 |
C |
T |
17: 37,383,039 (GRCm39) |
R857C |
probably damaging |
Het |
Gbp10 |
A |
T |
5: 105,367,901 (GRCm39) |
V424D |
probably damaging |
Het |
Gnptg |
T |
C |
17: 25,454,429 (GRCm39) |
E146G |
possibly damaging |
Het |
Has2 |
A |
T |
15: 56,545,091 (GRCm39) |
H170Q |
probably benign |
Het |
Il22ra1 |
G |
A |
4: 135,472,034 (GRCm39) |
G190D |
possibly damaging |
Het |
Lhcgr |
T |
C |
17: 89,049,838 (GRCm39) |
T563A |
probably benign |
Het |
Mgat4b |
T |
A |
11: 50,124,379 (GRCm39) |
F413Y |
probably damaging |
Het |
Mms22l |
T |
A |
4: 24,581,099 (GRCm39) |
|
probably benign |
Het |
Muc19 |
C |
T |
15: 91,782,241 (GRCm39) |
|
noncoding transcript |
Het |
Ncoa7 |
A |
T |
10: 30,566,895 (GRCm39) |
S545R |
possibly damaging |
Het |
Ncoa7 |
A |
C |
10: 30,598,781 (GRCm39) |
D47E |
probably damaging |
Het |
Nme1 |
A |
G |
11: 93,850,257 (GRCm39) |
Y142H |
possibly damaging |
Het |
Or5h25 |
T |
A |
16: 58,930,047 (GRCm39) |
T309S |
probably benign |
Het |
Or8i2 |
T |
A |
2: 86,852,697 (GRCm39) |
S64C |
probably damaging |
Het |
Per2 |
A |
G |
1: 91,358,724 (GRCm39) |
I587T |
possibly damaging |
Het |
Pias3 |
A |
G |
3: 96,606,932 (GRCm39) |
D65G |
possibly damaging |
Het |
Pramel20 |
A |
G |
4: 143,297,572 (GRCm39) |
|
probably benign |
Het |
Prkacb |
T |
C |
3: 146,438,451 (GRCm39) |
I304M |
possibly damaging |
Het |
Ripor2 |
G |
T |
13: 24,885,378 (GRCm39) |
E538* |
probably null |
Het |
Sart1 |
G |
A |
19: 5,433,749 (GRCm39) |
R363* |
probably null |
Het |
Serpinb3a |
T |
G |
1: 106,974,892 (GRCm39) |
I214L |
probably benign |
Het |
Spon2 |
C |
A |
5: 33,371,942 (GRCm39) |
C288F |
probably damaging |
Het |
Tmprss11a |
G |
A |
5: 86,562,386 (GRCm39) |
R320C |
probably damaging |
Het |
Trpm5 |
T |
A |
7: 142,643,282 (GRCm39) |
I22F |
probably benign |
Het |
Ube3a |
T |
C |
7: 58,954,580 (GRCm39) |
F818L |
probably damaging |
Het |
Vmn1r120 |
T |
G |
7: 20,787,063 (GRCm39) |
Q216P |
probably damaging |
Het |
Vmn2r4 |
A |
C |
3: 64,305,840 (GRCm39) |
Y527* |
probably null |
Het |
Zfp618 |
A |
T |
4: 63,007,642 (GRCm39) |
Y125F |
probably damaging |
Het |
|
Other mutations in Or10j3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01295:Or10j3b
|
APN |
1 |
173,043,440 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01411:Or10j3b
|
APN |
1 |
173,043,695 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02559:Or10j3b
|
APN |
1 |
173,044,088 (GRCm39) |
missense |
probably damaging |
0.98 |
R0233:Or10j3b
|
UTSW |
1 |
173,043,868 (GRCm39) |
missense |
probably benign |
0.25 |
R0233:Or10j3b
|
UTSW |
1 |
173,043,868 (GRCm39) |
missense |
probably benign |
0.25 |
R0245:Or10j3b
|
UTSW |
1 |
173,043,524 (GRCm39) |
missense |
possibly damaging |
0.54 |
R0652:Or10j3b
|
UTSW |
1 |
173,043,524 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1613:Or10j3b
|
UTSW |
1 |
173,043,434 (GRCm39) |
missense |
probably benign |
0.41 |
R1939:Or10j3b
|
UTSW |
1 |
173,043,499 (GRCm39) |
missense |
probably benign |
0.00 |
R2062:Or10j3b
|
UTSW |
1 |
173,043,277 (GRCm39) |
missense |
probably benign |
0.00 |
R2074:Or10j3b
|
UTSW |
1 |
173,043,377 (GRCm39) |
missense |
probably damaging |
0.98 |
R6045:Or10j3b
|
UTSW |
1 |
173,044,067 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6681:Or10j3b
|
UTSW |
1 |
173,043,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R7192:Or10j3b
|
UTSW |
1 |
173,043,575 (GRCm39) |
missense |
probably damaging |
0.98 |
R7576:Or10j3b
|
UTSW |
1 |
173,043,538 (GRCm39) |
missense |
probably benign |
0.01 |
R8919:Or10j3b
|
UTSW |
1 |
173,044,064 (GRCm39) |
missense |
probably damaging |
0.97 |
R9064:Or10j3b
|
UTSW |
1 |
173,044,060 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9369:Or10j3b
|
UTSW |
1 |
173,043,451 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9615:Or10j3b
|
UTSW |
1 |
173,044,034 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Posted On |
2015-04-16 |