Incidental Mutation 'IGL01399:Or5b96'
ID 79563
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5b96
Ensembl Gene ENSMUSG00000057817
Gene Name olfactory receptor family 5 subfamily B member 96
Synonyms Olfr1446, MOR202-2, GA_x6K02T2RE5P-3220047-3219130
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL01399
Quality Score
Status
Chromosome 19
Chromosomal Location 12867013-12867939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12867803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 46 (M46K)
Ref Sequence ENSEMBL: ENSMUSP00000149198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081236] [ENSMUST00000207741] [ENSMUST00000216805]
AlphaFold Q8VFX4
Predicted Effect probably benign
Transcript: ENSMUST00000081236
AA Change: M46K

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000079994
Gene: ENSMUSG00000057817
AA Change: M46K

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 2e-51 PFAM
Pfam:7TM_GPCR_Srsx 36 306 5.1e-6 PFAM
Pfam:7tm_1 42 291 9.7e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207319
AA Change: M46K
Predicted Effect probably benign
Transcript: ENSMUST00000207741
AA Change: M46K

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000216805
AA Change: M46K

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Asic4 T A 1: 75,445,790 (GRCm39) N206K possibly damaging Het
Bsn A G 9: 107,984,386 (GRCm39) Y3223H unknown Het
Btaf1 C T 19: 36,977,570 (GRCm39) R1463* probably null Het
Ccdc146 A G 5: 21,499,611 (GRCm39) I857T possibly damaging Het
Ccnf G A 17: 24,443,986 (GRCm39) S594L probably damaging Het
Chd5 T C 4: 152,441,144 (GRCm39) W195R probably damaging Het
Cntn1 A G 15: 92,203,025 (GRCm39) Y769C probably damaging Het
Cwc22 T C 2: 77,747,408 (GRCm39) E435G probably benign Het
Dct A G 14: 118,273,890 (GRCm39) F339S probably damaging Het
Ddx54 G T 5: 120,761,968 (GRCm39) E554* probably null Het
Dock3 G T 9: 106,870,670 (GRCm39) S581R probably benign Het
Dst A G 1: 34,156,598 (GRCm39) H176R probably benign Het
Emc8 A G 8: 121,385,745 (GRCm39) M123T probably damaging Het
Evc T A 5: 37,490,357 (GRCm39) D55V probably damaging Het
Gm5424 A G 10: 61,907,272 (GRCm39) noncoding transcript Het
Gpr149 A T 3: 62,511,852 (GRCm39) L49Q probably damaging Het
Hcfc1 C T X: 72,993,515 (GRCm39) V1217I possibly damaging Het
Hoxa4 G T 6: 52,167,393 (GRCm39) Q263K probably damaging Het
Ift172 T C 5: 31,423,592 (GRCm39) E790G probably benign Het
Ipp A G 4: 116,372,384 (GRCm39) N138D probably damaging Het
Isg20 A T 7: 78,569,836 (GRCm39) T158S possibly damaging Het
Klf17 A G 4: 117,616,356 (GRCm39) F325S probably damaging Het
Lilrb4a T C 10: 51,370,161 (GRCm39) L233P probably benign Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Myh9 A T 15: 77,651,470 (GRCm39) L1544Q probably damaging Het
Nexmif T A X: 103,130,786 (GRCm39) D377V probably damaging Het
Nobox T C 6: 43,280,972 (GRCm39) T501A probably benign Het
Noc3l T C 19: 38,804,099 (GRCm39) D93G possibly damaging Het
Nrcam G T 12: 44,622,667 (GRCm39) A938S probably benign Het
Nup205 T C 6: 35,196,624 (GRCm39) I1120T possibly damaging Het
Or5h18 C T 16: 58,847,629 (GRCm39) V214I probably benign Het
Ptpn3 T C 4: 57,225,775 (GRCm39) D480G probably benign Het
Selenof C T 3: 144,302,669 (GRCm39) T148I probably damaging Het
Sgce C A 6: 4,746,997 (GRCm39) G31V probably damaging Het
Slc35e1 C A 8: 73,238,534 (GRCm39) A325S probably damaging Het
Slc4a4 A G 5: 89,376,794 (GRCm39) D1016G probably damaging Het
Synj2 T G 17: 6,060,046 (GRCm39) C149W probably damaging Het
Tecpr1 A G 5: 144,145,411 (GRCm39) probably null Het
Utp20 A G 10: 88,594,164 (GRCm39) probably null Het
Vmn2r63 T A 7: 42,553,543 (GRCm39) K571M probably damaging Het
Wdr53 A G 16: 32,070,718 (GRCm39) D21G possibly damaging Het
Zbtb3 T C 19: 8,780,819 (GRCm39) L144S probably damaging Het
Zfp185 T A X: 72,043,654 (GRCm39) S154T probably damaging Het
Other mutations in Or5b96
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Or5b96 APN 19 12,867,282 (GRCm39) missense probably benign 0.00
IGL01697:Or5b96 APN 19 12,867,831 (GRCm39) missense probably benign 0.24
IGL01739:Or5b96 APN 19 12,867,513 (GRCm39) missense probably benign 0.02
IGL01894:Or5b96 APN 19 12,867,007 (GRCm39) utr 3 prime probably benign
R0164:Or5b96 UTSW 19 12,867,809 (GRCm39) missense probably damaging 1.00
R0164:Or5b96 UTSW 19 12,867,809 (GRCm39) missense probably damaging 1.00
R1163:Or5b96 UTSW 19 12,867,513 (GRCm39) missense probably benign 0.02
R1769:Or5b96 UTSW 19 12,867,047 (GRCm39) missense probably damaging 1.00
R4406:Or5b96 UTSW 19 12,867,598 (GRCm39) nonsense probably null
R5038:Or5b96 UTSW 19 12,867,770 (GRCm39) missense probably damaging 1.00
R5207:Or5b96 UTSW 19 12,867,801 (GRCm39) missense probably benign 0.28
R5627:Or5b96 UTSW 19 12,867,663 (GRCm39) missense probably damaging 1.00
R5995:Or5b96 UTSW 19 12,867,961 (GRCm39) splice site probably null
R7953:Or5b96 UTSW 19 12,867,095 (GRCm39) missense probably damaging 1.00
R8043:Or5b96 UTSW 19 12,867,095 (GRCm39) missense probably damaging 1.00
R8254:Or5b96 UTSW 19 12,867,849 (GRCm39) missense probably benign 0.00
R8812:Or5b96 UTSW 19 12,867,560 (GRCm39) missense probably damaging 1.00
R9242:Or5b96 UTSW 19 12,867,989 (GRCm39) intron probably benign
X0062:Or5b96 UTSW 19 12,867,927 (GRCm39) missense probably benign 0.42
Posted On 2013-11-05