Incidental Mutation 'IGL02366:Or5b117'
ID 290711
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5b117
Ensembl Gene ENSMUSG00000095189
Gene Name olfactory receptor family 5 subfamily B member 117
Synonyms Olfr1472, GA_x6K02T2RE5P-3787124-3786180, MOR202-16
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # IGL02366
Quality Score
Status
Chromosome 19
Chromosomal Location 13430935-13431879 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13431491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 130 (Y130C)
Ref Sequence ENSEMBL: ENSMUSP00000093915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077501] [ENSMUST00000096201]
AlphaFold Q7TQQ9
Predicted Effect probably damaging
Transcript: ENSMUST00000077501
AA Change: Y130C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076707
Gene: ENSMUSG00000095189
AA Change: Y130C

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.4e-51 PFAM
Pfam:7TM_GPCR_Srsx 33 303 5.2e-8 PFAM
Pfam:7tm_1 39 288 6.9e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000096201
AA Change: Y130C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093915
Gene: ENSMUSG00000095189
AA Change: Y130C

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 3.9e-53 PFAM
Pfam:7TM_GPCR_Srsx 34 304 2.6e-6 PFAM
Pfam:7tm_1 40 289 1.2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213561
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
6030458C11Rik T A 15: 12,810,859 (GRCm39) H339L probably benign Het
Abcc1 T C 16: 14,285,843 (GRCm39) probably benign Het
Ankrd55 T C 13: 112,454,994 (GRCm39) Y3H probably damaging Het
Armcx4 A C X: 133,592,261 (GRCm39) K723T possibly damaging Het
Brinp3 T A 1: 146,577,481 (GRCm39) V172D possibly damaging Het
Cemip C T 7: 83,592,849 (GRCm39) R1226Q probably benign Het
Cntn5 A T 9: 9,984,060 (GRCm39) probably benign Het
Cyld T C 8: 89,456,381 (GRCm39) V474A probably damaging Het
Dhx40 T C 11: 86,667,528 (GRCm39) E537G probably damaging Het
Efhc1 A G 1: 21,030,486 (GRCm39) N140D probably damaging Het
Eif6 A G 2: 155,668,092 (GRCm39) V49A probably benign Het
Epha4 G T 1: 77,403,348 (GRCm39) Y386* probably null Het
Ggnbp2 T C 11: 84,732,427 (GRCm39) K222R probably damaging Het
Gm5117 T C 8: 32,227,887 (GRCm39) noncoding transcript Het
Gm5852 A T 3: 93,634,568 (GRCm39) noncoding transcript Het
Hadha A G 5: 30,340,048 (GRCm39) V243A probably benign Het
Hal A G 10: 93,339,390 (GRCm39) N493S probably damaging Het
Insrr A G 3: 87,717,216 (GRCm39) T731A possibly damaging Het
Irs4 A T X: 140,506,900 (GRCm39) L432H probably damaging Het
Kdm4a T G 4: 118,017,703 (GRCm39) probably null Het
Lhx4 T C 1: 155,580,934 (GRCm39) D197G possibly damaging Het
Mllt10 T A 2: 18,069,898 (GRCm39) M18K probably damaging Het
Nars1 T C 18: 64,636,599 (GRCm39) T422A possibly damaging Het
Ncf2 A G 1: 152,710,824 (GRCm39) D445G probably benign Het
Ndor1 C A 2: 25,137,993 (GRCm39) G544V possibly damaging Het
Notch3 C A 17: 32,363,179 (GRCm39) R1268L probably benign Het
Or51ac3 A T 7: 103,213,622 (GRCm39) V288D probably damaging Het
Or6c202 A T 10: 128,996,494 (GRCm39) Y120N probably damaging Het
Or8g2 T C 9: 39,821,288 (GRCm39) L63P probably damaging Het
Osgep T C 14: 51,157,407 (GRCm39) D72G probably damaging Het
Pank4 C T 4: 155,054,085 (GRCm39) T88I probably benign Het
Pcgf6 T C 19: 47,038,894 (GRCm39) E122G possibly damaging Het
Ppp1r21 A G 17: 88,855,090 (GRCm39) H123R probably damaging Het
Prex1 A C 2: 166,422,347 (GRCm39) L28R probably damaging Het
Rbl1 A T 2: 157,016,813 (GRCm39) N595K probably benign Het
Rnf148 T C 6: 23,654,058 (GRCm39) I313V probably benign Het
Rnf220 T C 4: 117,346,980 (GRCm39) N144S probably benign Het
Sbno2 G A 10: 79,900,036 (GRCm39) T577I probably damaging Het
Sez6 T C 11: 77,867,708 (GRCm39) I875T probably damaging Het
Slco1a5 A T 6: 142,195,941 (GRCm39) V354D possibly damaging Het
Slit2 A T 5: 48,461,410 (GRCm39) T1486S possibly damaging Het
Snd1 T C 6: 28,707,149 (GRCm39) probably benign Het
Sval3 T C 6: 41,946,659 (GRCm39) probably benign Het
Tmem94 T C 11: 115,688,258 (GRCm39) L1239P probably damaging Het
Trpm6 T C 19: 18,755,874 (GRCm39) probably benign Het
Ttc9 A C 12: 81,678,384 (GRCm39) D69A possibly damaging Het
Ttn A T 2: 76,593,580 (GRCm39) L20687M probably benign Het
Zfp748 T A 13: 67,693,546 (GRCm39) probably benign Het
Other mutations in Or5b117
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Or5b117 APN 19 13,431,204 (GRCm39) missense possibly damaging 0.46
IGL01755:Or5b117 APN 19 13,431,179 (GRCm39) missense probably damaging 1.00
IGL01885:Or5b117 APN 19 13,431,449 (GRCm39) missense probably benign 0.00
IGL03074:Or5b117 APN 19 13,431,417 (GRCm39) missense probably damaging 0.98
R0592:Or5b117 UTSW 19 13,431,069 (GRCm39) missense probably benign 0.00
R1085:Or5b117 UTSW 19 13,431,594 (GRCm39) missense possibly damaging 0.75
R4207:Or5b117 UTSW 19 13,431,835 (GRCm39) missense probably benign 0.15
R4856:Or5b117 UTSW 19 13,431,885 (GRCm39) splice site probably null
R4886:Or5b117 UTSW 19 13,431,885 (GRCm39) splice site probably null
R5061:Or5b117 UTSW 19 13,431,349 (GRCm39) nonsense probably null
R5167:Or5b117 UTSW 19 13,431,741 (GRCm39) missense probably damaging 1.00
R5509:Or5b117 UTSW 19 13,431,332 (GRCm39) missense probably damaging 1.00
R5586:Or5b117 UTSW 19 13,431,746 (GRCm39) missense probably benign 0.02
R5987:Or5b117 UTSW 19 13,431,324 (GRCm39) missense possibly damaging 0.57
R6631:Or5b117 UTSW 19 13,431,185 (GRCm39) missense probably benign 0.00
R7976:Or5b117 UTSW 19 13,431,563 (GRCm39) missense probably benign
Posted On 2015-04-16