Incidental Mutation 'IGL02559:Or10j3b'
ID 298617
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 non essential (E-score: 0.483) question?
Stock # IGL02559
Quality Score
Status
Chromosome 1
Chromosomal Location 173043174-173044207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 173044088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 290 (V290A)
Ref Sequence ENSEMBL: ENSMUSP00000151077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049706] [ENSMUST00000056592] [ENSMUST00000193017] [ENSMUST00000216556] [ENSMUST00000217374]
AlphaFold Q8VGE1
Predicted Effect probably benign
Transcript: ENSMUST00000049706
SMART Domains Protein: ENSMUSP00000056882
Gene: ENSMUSG00000005339

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG 34 108 1.08e-8 SMART
IG 116 193 1.37e-1 SMART
transmembrane domain 200 222 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000056592
AA Change: V290A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000050406
Gene: ENSMUSG00000049456
AA Change: V290A

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 7.9e-55 PFAM
Pfam:7tm_1 42 291 1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193017
SMART Domains Protein: ENSMUSP00000141932
Gene: ENSMUSG00000005339

DomainStartEndE-ValueType
IG_like 9 52 4.8e-1 SMART
IG 60 137 5.7e-4 SMART
transmembrane domain 144 166 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000216556
AA Change: V290A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000217374
AA Change: V290A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,507,433 (GRCm39) Q1004* probably null Het
Bahcc1 A G 11: 120,175,998 (GRCm39) D1914G probably damaging Het
Bcl11b A T 12: 107,881,653 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Col24a1 A T 3: 145,019,934 (GRCm39) I102F probably benign Het
Col7a1 C T 9: 108,802,284 (GRCm39) R2063C unknown Het
Ddo T A 10: 40,523,517 (GRCm39) L169Q probably damaging Het
Defb4 G T 8: 19,251,313 (GRCm39) C60F probably damaging Het
Dock9 A T 14: 121,862,559 (GRCm39) probably benign Het
Dysf A T 6: 84,044,428 (GRCm39) probably benign Het
Fasn G A 11: 120,699,892 (GRCm39) A2253V possibly damaging Het
Fbxw26 T C 9: 109,551,232 (GRCm39) D355G probably benign Het
Gak C T 5: 108,732,098 (GRCm39) E797K probably null Het
Gm10654 T C 8: 71,384,774 (GRCm39) noncoding transcript Het
Gnas T C 2: 174,183,729 (GRCm39) probably benign Het
H2bc11 T A 13: 22,227,533 (GRCm39) V45E possibly damaging Het
Hdac3 A G 18: 38,087,944 (GRCm39) F8S probably damaging Het
Hrh4 T C 18: 13,140,301 (GRCm39) probably null Het
Klhl1 A G 14: 96,389,396 (GRCm39) V586A possibly damaging Het
Lct T C 1: 128,222,003 (GRCm39) N1512S probably damaging Het
Mmp28 G T 11: 83,338,566 (GRCm39) N128K probably benign Het
Mndal T C 1: 173,700,486 (GRCm39) T162A probably benign Het
Myh3 A G 11: 66,991,921 (GRCm39) E1822G possibly damaging Het
Mylpf A G 7: 126,813,315 (GRCm39) Y133C probably damaging Het
Nup210l G A 3: 90,067,260 (GRCm39) A767T probably benign Het
Or52n2 T A 7: 104,542,161 (GRCm39) R225W probably benign Het
Or5au1 A G 14: 52,273,464 (GRCm39) Y35H probably damaging Het
Paics A G 5: 77,112,451 (GRCm39) I312V possibly damaging Het
Pkdrej G T 15: 85,702,049 (GRCm39) Q1296K probably benign Het
Rufy1 A G 11: 50,311,310 (GRCm39) F170L probably damaging Het
Shcbp1 T A 8: 4,799,305 (GRCm39) E93V probably damaging Het
Slamf1 T A 1: 171,594,826 (GRCm39) I11K possibly damaging Het
Slc5a5 C T 8: 71,342,915 (GRCm39) G215D probably damaging Het
Slco1a1 A T 6: 141,867,514 (GRCm39) V473D probably benign Het
Slit1 A G 19: 41,709,524 (GRCm39) V123A probably benign Het
Srgap2 A C 1: 131,452,674 (GRCm39) probably null Het
Stk32c T C 7: 138,700,606 (GRCm39) M208V probably benign Het
Syt15 T C 14: 33,943,760 (GRCm39) V103A probably benign Het
Tacc2 T A 7: 130,360,997 (GRCm39) L456Q probably damaging Het
Tanc1 A G 2: 59,554,998 (GRCm39) probably benign Het
Tepsin G T 11: 119,987,731 (GRCm39) D62E probably benign Het
Thap3 T C 4: 152,068,144 (GRCm39) D106G probably benign Het
Ttn T C 2: 76,616,561 (GRCm39) D14818G probably damaging Het
Txndc2 T C 17: 65,946,585 (GRCm39) N39S possibly damaging Het
Ubxn11 A G 4: 133,852,254 (GRCm39) E200G probably damaging Het
Vmn2r11 T G 5: 109,200,046 (GRCm39) Q469P probably damaging Het
Yipf2 T C 9: 21,503,482 (GRCm39) T22A probably damaging Het
Ypel1 T C 16: 16,927,515 (GRCm39) K26E possibly 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
IGL02533:Or10j3b APN 1 173,043,628 (GRCm39) missense probably damaging 0.99
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