Incidental Mutation 'IGL02990:Or14j3'
ID 406876
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or14j3
Ensembl Gene ENSMUSG00000062629
Gene Name olfactory receptor family 14 subfamily J member 3
Synonyms MOR218-10, GA_x6K02T2PSCP-2049802-2048870, Olfr114
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL02990
Quality Score
Status
Chromosome 17
Chromosomal Location 37900304-37901242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37900559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 228 (M228I)
Ref Sequence ENSEMBL: ENSMUSP00000149735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076914] [ENSMUST00000214871] [ENSMUST00000216249]
AlphaFold Q923Q8
Predicted Effect probably benign
Transcript: ENSMUST00000076914
AA Change: M228I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000076181
Gene: ENSMUSG00000062629
AA Change: M228I

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2e-43 PFAM
Pfam:7TM_GPCR_Srsx 35 305 3.7e-6 PFAM
Pfam:7tm_1 41 290 3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214871
AA Change: M228I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000216249
AA Change: M228I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b G T 11: 69,054,032 (GRCm39) V205F probably benign Het
Ampd3 T C 7: 110,407,170 (GRCm39) probably benign Het
Arhgef18 G A 8: 3,494,904 (GRCm39) V388I probably benign Het
Atp6v1c2 C T 12: 17,344,741 (GRCm39) V169I probably damaging Het
Ccdc88b G T 19: 6,824,777 (GRCm39) L1328I probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cluh G A 11: 74,558,591 (GRCm39) probably null Het
Cpsf7 C A 19: 10,509,159 (GRCm39) N23K probably benign Het
Cyp4x1 A T 4: 114,978,946 (GRCm39) F191L probably benign Het
Dcn A G 10: 97,345,835 (GRCm39) T216A probably benign Het
Drosha C T 15: 12,827,353 (GRCm39) probably benign Het
Foxn4 A G 5: 114,411,050 (GRCm39) S24P probably damaging Het
Gm11733 A T 11: 117,377,809 (GRCm39) probably null Het
Hapln1 A C 13: 89,749,725 (GRCm39) Y90S probably benign Het
Igf2r C A 17: 12,929,633 (GRCm39) probably benign Het
Jade2 A G 11: 51,722,074 (GRCm39) probably benign Het
Kcnh7 A T 2: 62,536,330 (GRCm39) L1084H probably benign Het
Kif1a T C 1: 92,966,985 (GRCm39) D1155G probably damaging Het
Llgl2 A G 11: 115,745,159 (GRCm39) M958V probably benign Het
Lrp2 A G 2: 69,271,740 (GRCm39) V4064A possibly damaging Het
Mau2 A G 8: 70,474,905 (GRCm39) probably benign Het
Mllt10 T C 2: 18,128,522 (GRCm39) probably benign Het
Myo15a A G 11: 60,370,266 (GRCm39) T1009A probably benign Het
Myo6 T C 9: 80,183,685 (GRCm39) probably null Het
Neil2 G T 14: 63,429,258 (GRCm39) H12N possibly damaging Het
Nrde2 T C 12: 100,108,355 (GRCm39) E412G probably damaging Het
Or4c115 T C 2: 88,927,473 (GRCm39) Y266C possibly damaging Het
Patl2 T G 2: 121,954,978 (GRCm39) probably null Het
Pkhd1 T C 1: 20,593,187 (GRCm39) H1642R possibly damaging Het
Ppp6r1 A G 7: 4,646,022 (GRCm39) I199T possibly damaging Het
Prom2 T A 2: 127,370,734 (GRCm39) T817S probably benign Het
Slc49a4 C A 16: 35,555,861 (GRCm39) V200F possibly damaging Het
Slc9b1 A G 3: 135,100,744 (GRCm39) probably null Het
Sv2c A T 13: 96,224,886 (GRCm39) I141K probably damaging Het
Tas2r139 A T 6: 42,118,038 (GRCm39) I57F probably damaging Het
Tep1 A G 14: 51,105,703 (GRCm39) S106P possibly damaging Het
Tnni3k T C 3: 154,663,395 (GRCm39) D319G probably benign Het
Tom1l2 C T 11: 60,121,062 (GRCm39) D461N probably damaging Het
Ugt1a10 T C 1: 87,983,601 (GRCm39) L133S probably damaging Het
Usf2 T G 7: 30,654,732 (GRCm39) Q161P probably benign Het
Vmn1r15 A G 6: 57,235,593 (GRCm39) T154A probably benign Het
Vmn2r95 C A 17: 18,672,298 (GRCm39) Y678* probably null Het
Other mutations in Or14j3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Or14j3 APN 17 37,900,963 (GRCm39) missense possibly damaging 0.93
IGL01624:Or14j3 APN 17 37,900,816 (GRCm39) missense probably benign 0.00
IGL02026:Or14j3 APN 17 37,900,298 (GRCm39) utr 3 prime probably benign
IGL02608:Or14j3 APN 17 37,901,110 (GRCm39) missense probably damaging 1.00
IGL02632:Or14j3 APN 17 37,901,232 (GRCm39) missense probably benign 0.00
R0114:Or14j3 UTSW 17 37,900,306 (GRCm39) makesense probably null
R1156:Or14j3 UTSW 17 37,900,408 (GRCm39) missense possibly damaging 0.93
R1366:Or14j3 UTSW 17 37,900,655 (GRCm39) missense probably benign 0.03
R3413:Or14j3 UTSW 17 37,900,587 (GRCm39) missense probably benign 0.00
R3701:Or14j3 UTSW 17 37,900,717 (GRCm39) nonsense probably null
R6122:Or14j3 UTSW 17 37,900,817 (GRCm39) missense probably benign 0.12
R6639:Or14j3 UTSW 17 37,900,822 (GRCm39) missense probably damaging 1.00
R7066:Or14j3 UTSW 17 37,901,034 (GRCm39) missense probably damaging 1.00
R7316:Or14j3 UTSW 17 37,901,026 (GRCm39) missense probably damaging 0.99
R8340:Or14j3 UTSW 17 37,901,034 (GRCm39) missense probably damaging 1.00
R8483:Or14j3 UTSW 17 37,900,866 (GRCm39) missense possibly damaging 0.52
R8555:Or14j3 UTSW 17 37,900,540 (GRCm39) missense possibly damaging 0.95
R9442:Or14j3 UTSW 17 37,900,633 (GRCm39) missense possibly damaging 0.95
R9617:Or14j3 UTSW 17 37,901,053 (GRCm39) nonsense probably null
R9718:Or14j3 UTSW 17 37,900,914 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02