Incidental Mutation 'IGL01885:Or5b117'
ID 179089
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 # IGL01885
Quality Score
Status
Chromosome 19
Chromosomal Location 13430935-13431879 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 13431449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 144 (T144I)
Ref Sequence ENSEMBL: ENSMUSP00000093915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077501] [ENSMUST00000096201]
AlphaFold Q7TQQ9
Predicted Effect probably benign
Transcript: ENSMUST00000077501
AA Change: T144I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000076707
Gene: ENSMUSG00000095189
AA Change: T144I

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 benign
Transcript: ENSMUST00000096201
AA Change: T144I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000093915
Gene: ENSMUSG00000095189
AA Change: T144I

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T C 8: 111,774,575 (GRCm39) V568A possibly damaging Het
Abcb11 T A 2: 69,117,971 (GRCm39) Q469L probably damaging Het
Ahsg G A 16: 22,717,731 (GRCm39) G264E probably damaging Het
Ankar T C 1: 72,697,862 (GRCm39) Y788C probably damaging Het
Birc6 T A 17: 74,911,511 (GRCm39) F1508I possibly damaging Het
Cd6 C A 19: 10,776,601 (GRCm39) Q141H probably benign Het
Cercam A C 2: 29,771,015 (GRCm39) T471P probably damaging Het
Cux1 T C 5: 136,337,301 (GRCm39) D729G possibly damaging Het
Dglucy T A 12: 100,816,540 (GRCm39) F394Y probably damaging Het
E130308A19Rik A G 4: 59,720,004 (GRCm39) N512S probably benign Het
Ephb4 T C 5: 137,356,059 (GRCm39) C223R probably damaging Het
Gcn1 T A 5: 115,714,174 (GRCm39) probably null Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hirip3 T A 7: 126,463,381 (GRCm39) S446T probably benign Het
Hoxa5 A T 6: 52,179,647 (GRCm39) F243I probably damaging Het
Iars1 T C 13: 49,844,975 (GRCm39) V162A probably benign Het
Lama2 G A 10: 26,981,135 (GRCm39) R1840* probably null Het
Lbp T A 2: 158,166,493 (GRCm39) L349Q probably damaging Het
Lrp4 T C 2: 91,331,452 (GRCm39) I1604T probably benign Het
Mapk10 T C 5: 103,144,455 (GRCm39) K121E probably damaging Het
Nav3 T A 10: 109,578,521 (GRCm39) R1579* probably null Het
Obscn T C 11: 58,965,794 (GRCm39) D652G possibly damaging Het
Or10x1 A G 1: 174,196,967 (GRCm39) I161M probably damaging Het
Or7g30 A G 9: 19,352,760 (GRCm39) I184V probably benign Het
Ostm1 C T 10: 42,574,147 (GRCm39) S280L possibly damaging Het
Peak1 C T 9: 56,167,388 (GRCm39) R180K probably damaging Het
Plcz1 T C 6: 139,947,837 (GRCm39) Y515C probably benign Het
Postn T C 3: 54,283,455 (GRCm39) probably benign Het
Ptchd4 C T 17: 42,814,493 (GRCm39) T798I probably damaging Het
Rnf41 A T 10: 128,271,344 (GRCm39) N85Y probably damaging Het
Shisa7 A T 7: 4,833,825 (GRCm39) H323Q probably damaging Het
Slco2a1 T A 9: 102,951,629 (GRCm39) M386K probably damaging Het
St18 G A 1: 6,914,596 (GRCm39) probably null Het
Stra6 T A 9: 58,048,431 (GRCm39) L175M probably damaging Het
Tmem67 A G 4: 12,057,389 (GRCm39) L600P probably damaging Het
Try5 G T 6: 41,288,672 (GRCm39) N182K possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Xpo7 G A 14: 70,903,475 (GRCm39) T1078I probably benign Het
Zan G A 5: 137,462,386 (GRCm39) T931I unknown 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
IGL02366:Or5b117 APN 19 13,431,491 (GRCm39) missense probably damaging 1.00
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 2014-05-07