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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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