Incidental Mutation 'IGL02471:Or56b34'
ID 294710
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or56b34
Ensembl Gene ENSMUSG00000073909
Gene Name olfactory receptor family 56 subfamily B member 34
Synonyms MOR40-5, Olfr688, MOR40-16, GA_x6K02T2PBJ9-7917168-7918148
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # IGL02471
Quality Score
Status
Chromosome 7
Chromosomal Location 104937302-104938267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104938252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 317 (F317L)
Ref Sequence ENSEMBL: ENSMUSP00000095758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098155]
AlphaFold Q6W049
Predicted Effect probably benign
Transcript: ENSMUST00000098155
AA Change: F317L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000095758
Gene: ENSMUSG00000073909
AA Change: F317L

DomainStartEndE-ValueType
Pfam:7tm_4 37 315 1.5e-76 PFAM
Pfam:7TM_GPCR_Srsx 41 312 2.5e-10 PFAM
Pfam:7tm_1 47 297 1.5e-15 PFAM
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,297,357 (GRCm39) H2378N probably benign Het
Btaf1 C A 19: 36,977,592 (GRCm39) A1470E probably damaging Het
Ccdc110 A G 8: 46,394,793 (GRCm39) D228G probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cldn18 T C 9: 99,578,128 (GRCm39) D205G probably benign Het
Clip2 T C 5: 134,546,876 (GRCm39) T231A probably benign Het
Cltc A G 11: 86,608,860 (GRCm39) V723A probably damaging Het
Cpa3 C T 3: 20,282,971 (GRCm39) probably null Het
Cyfip2 T G 11: 46,091,630 (GRCm39) T1097P possibly damaging Het
Dnah9 T A 11: 65,838,444 (GRCm39) R667* probably null Het
Dock10 T C 1: 80,493,339 (GRCm39) E1878G probably damaging Het
Ermap G A 4: 119,037,160 (GRCm39) H353Y probably damaging Het
Etfa A T 9: 55,393,984 (GRCm39) probably null Het
F5 C T 1: 164,001,860 (GRCm39) P188S probably damaging Het
Foxq1 G A 13: 31,743,326 (GRCm39) E143K possibly damaging Het
Gsr C T 8: 34,172,612 (GRCm39) probably benign Het
Hebp1 T A 6: 135,132,274 (GRCm39) Y31F probably benign Het
Ighv1-14 T C 12: 114,610,457 (GRCm39) noncoding transcript Het
Lamb1 T A 12: 31,370,907 (GRCm39) D1319E probably damaging Het
Lrp5 A T 19: 3,652,408 (GRCm39) V1154E probably benign Het
Manba G A 3: 135,212,769 (GRCm39) probably benign Het
Mknk2 A T 10: 80,503,955 (GRCm39) F319I probably damaging Het
Mup6 A T 4: 60,003,971 (GRCm39) probably benign Het
Nalcn T C 14: 123,560,726 (GRCm39) T784A probably benign Het
Nt5dc1 T C 10: 34,279,721 (GRCm39) E107G probably benign Het
Or11h6 A T 14: 50,880,214 (GRCm39) I159F probably benign Het
Or9q2 G A 19: 13,772,589 (GRCm39) P129S probably damaging Het
Phldb1 T C 9: 44,622,530 (GRCm39) E41G probably damaging Het
Ptk2 T C 15: 73,170,036 (GRCm39) D309G probably benign Het
Rab11fip5 A G 6: 85,325,207 (GRCm39) S367P probably damaging Het
Rb1cc1 T A 1: 6,310,275 (GRCm39) N224K probably benign Het
Rchy1 A T 5: 92,105,405 (GRCm39) C65* probably null Het
Rgs18 T C 1: 144,650,359 (GRCm39) D56G probably benign Het
Rtraf A C 14: 19,862,296 (GRCm39) L197R probably damaging Het
Slc44a5 G T 3: 153,962,213 (GRCm39) W382L probably damaging Het
Snx24 C T 18: 53,518,241 (GRCm39) probably benign Het
Sphkap T C 1: 83,253,897 (GRCm39) D1284G probably damaging Het
Tmem54 A G 4: 129,002,111 (GRCm39) M53V probably benign Het
Trip6 G A 5: 137,308,618 (GRCm39) P414S probably benign Het
Vmn1r38 A G 6: 66,753,751 (GRCm39) Y122H probably benign Het
Wapl T A 14: 34,413,877 (GRCm39) N246K possibly damaging Het
Zfp12 G A 5: 143,230,551 (GRCm39) G293R probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp446 T G 7: 12,716,181 (GRCm39) V209G probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Or56b34
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0077:Or56b34 UTSW 7 104,937,726 (GRCm39) missense probably damaging 0.98
R2082:Or56b34 UTSW 7 104,937,710 (GRCm39) nonsense probably null
R2087:Or56b34 UTSW 7 104,937,393 (GRCm39) missense probably benign 0.00
R8829:Or56b34 UTSW 7 104,937,435 (GRCm39) missense possibly damaging 0.63
R8832:Or56b34 UTSW 7 104,937,435 (GRCm39) missense possibly damaging 0.63
X0064:Or56b34 UTSW 7 104,937,428 (GRCm39) missense probably benign
Z1176:Or56b34 UTSW 7 104,937,929 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16