Incidental Mutation 'IGL02966:Or8b12b'
ID 365564
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8b12b
Ensembl Gene ENSMUSG00000058628
Gene Name olfactory receptor family 8 subfamily B member 12B
Synonyms GA_x6K02T2PVTD-31458511-31459443, Olfr875, MOR161-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # IGL02966
Quality Score
Status
Chromosome 9
Chromosomal Location 37683933-37684936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 37684882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 309 (L309R)
Ref Sequence ENSEMBL: ENSMUSP00000150684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080634] [ENSMUST00000215128]
AlphaFold Q7TRE5
Predicted Effect probably benign
Transcript: ENSMUST00000080634
AA Change: L309R

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000079467
Gene: ENSMUSG00000058628
AA Change: L309R

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 1.1e-48 PFAM
Pfam:7tm_1 40 289 1.8e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215128
AA Change: L309R

PolyPhen 2 Score 0.281 (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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A T X: 80,463,317 (GRCm39) Y797N possibly damaging Het
Actbl2 G A 13: 111,392,106 (GRCm39) G147E probably damaging Het
Adam18 A T 8: 25,101,165 (GRCm39) probably benign Het
Ahcyl2 G A 6: 29,880,556 (GRCm39) V175I probably benign Het
Alox12 T A 11: 70,140,911 (GRCm39) T375S probably damaging Het
Batf2 C A 19: 6,221,819 (GRCm39) Q210K probably damaging Het
Bicd1 T C 6: 149,385,494 (GRCm39) S76P probably damaging Het
Bphl A T 13: 34,247,980 (GRCm39) H251L probably damaging Het
C130074G19Rik C A 1: 184,614,943 (GRCm39) E82D probably damaging Het
Calu A T 6: 29,356,584 (GRCm39) K39* probably null Het
Capns1 T C 7: 29,891,618 (GRCm39) D142G probably damaging Het
Ccr8 T C 9: 119,923,206 (GRCm39) V107A probably damaging Het
Cep170b G A 12: 112,702,878 (GRCm39) G447D possibly damaging Het
Chat C T 14: 32,170,903 (GRCm39) V199M probably damaging Het
Cntnap1 G T 11: 101,075,575 (GRCm39) V918L probably damaging Het
Cyp27a1 A G 1: 74,771,249 (GRCm39) T145A probably benign Het
Dgkq T A 5: 108,804,287 (GRCm39) probably null Het
Dnhd1 A G 7: 105,369,948 (GRCm39) I4458V probably benign Het
Enpp1 T A 10: 24,536,172 (GRCm39) E409D probably damaging Het
Fam78b G T 1: 166,906,457 (GRCm39) L205F probably damaging Het
Foxr2 C A X: 151,913,677 (GRCm39) R183S probably damaging Het
Ganc T C 2: 120,264,129 (GRCm39) S361P probably damaging Het
Gfra4 C A 2: 130,884,560 (GRCm39) A15S possibly damaging Het
Gm8011 A T 14: 42,287,957 (GRCm39) D145V unknown Het
Gnb4 A G 3: 32,639,372 (GRCm39) V307A probably benign Het
Hdac4 A T 1: 91,982,667 (GRCm39) V17E possibly damaging Het
Herc6 G A 6: 57,560,318 (GRCm39) probably null Het
Hivep3 A G 4: 119,989,383 (GRCm39) T1945A probably benign Het
Ica1l A T 1: 60,049,298 (GRCm39) N218K probably damaging Het
Kmt2b A T 7: 30,274,887 (GRCm39) L1939Q probably benign Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Marchf8 C T 6: 116,380,499 (GRCm39) R117C probably damaging Het
Megf6 T C 4: 154,338,234 (GRCm39) S327P probably damaging Het
Mocos T G 18: 24,809,668 (GRCm39) C424G probably damaging Het
Mrpl50 A G 4: 49,521,014 (GRCm39) W14R probably benign Het
Mysm1 A T 4: 94,863,523 (GRCm39) D23E probably benign Het
Naa35 T A 13: 59,734,085 (GRCm39) D34E probably benign Het
Nid1 A G 13: 13,656,806 (GRCm39) I646V probably benign Het
Nupr1 T C 7: 126,224,073 (GRCm39) probably benign Het
Or2aj6 G T 16: 19,443,051 (GRCm39) H266Q probably damaging Het
Or5b24 A T 19: 12,912,164 (GRCm39) I21F probably benign Het
Pcbp2 A C 15: 102,392,684 (GRCm39) probably benign Het
Pde8b T C 13: 95,232,156 (GRCm39) Q158R probably damaging Het
Pdzd8 T C 19: 59,289,291 (GRCm39) Y703C probably damaging Het
Plxnb3 T C X: 72,808,889 (GRCm39) S885P probably benign Het
Poc1b T A 10: 98,980,176 (GRCm39) C136S probably damaging Het
Pole2 T C 12: 69,256,649 (GRCm39) D292G probably damaging Het
Prpf39 T C 12: 65,089,553 (GRCm39) V97A probably benign Het
Rbbp8 T A 18: 11,838,869 (GRCm39) H183Q possibly damaging Het
Scn2a C T 2: 65,532,188 (GRCm39) T600M possibly damaging Het
Spata32 T C 11: 103,099,629 (GRCm39) Q292R possibly damaging Het
Sugp1 T C 8: 70,523,758 (GRCm39) probably benign Het
Sult3a1 A C 10: 33,753,269 (GRCm39) probably benign Het
Tpm3-rs7 C T 14: 113,552,810 (GRCm39) Q235* probably null Het
Trbv2 A T 6: 41,024,685 (GRCm39) T34S possibly damaging Het
Tssk6 A G 8: 70,355,535 (GRCm39) Y193C probably benign Het
Ttn T C 2: 76,538,802 (GRCm39) K34676R possibly damaging Het
Ugt3a1 T C 15: 9,370,154 (GRCm39) Y433H probably damaging Het
Wdhd1 T C 14: 47,479,101 (GRCm39) K1072E possibly damaging Het
Other mutations in Or8b12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01909:Or8b12b APN 9 37,684,159 (GRCm39) missense possibly damaging 0.95
IGL02013:Or8b12b APN 9 37,684,185 (GRCm39) missense probably benign 0.00
IGL02162:Or8b12b APN 9 37,684,227 (GRCm39) missense probably benign 0.13
R0017:Or8b12b UTSW 9 37,684,274 (GRCm39) missense probably benign 0.08
R0520:Or8b12b UTSW 9 37,684,849 (GRCm39) missense probably benign 0.00
R0553:Or8b12b UTSW 9 37,684,627 (GRCm39) missense probably benign 0.05
R0833:Or8b12b UTSW 9 37,684,372 (GRCm39) missense probably benign 0.03
R1316:Or8b12b UTSW 9 37,684,039 (GRCm39) missense possibly damaging 0.94
R1547:Or8b12b UTSW 9 37,683,960 (GRCm39) missense probably benign 0.00
R1888:Or8b12b UTSW 9 37,684,163 (GRCm39) missense possibly damaging 0.88
R1888:Or8b12b UTSW 9 37,684,163 (GRCm39) missense possibly damaging 0.88
R1891:Or8b12b UTSW 9 37,684,163 (GRCm39) missense possibly damaging 0.88
R1894:Or8b12b UTSW 9 37,684,163 (GRCm39) missense possibly damaging 0.88
R3055:Or8b12b UTSW 9 37,684,489 (GRCm39) missense probably damaging 1.00
R4816:Or8b12b UTSW 9 37,684,726 (GRCm39) missense possibly damaging 0.72
R4829:Or8b12b UTSW 9 37,684,243 (GRCm39) missense probably damaging 1.00
R4952:Or8b12b UTSW 9 37,684,360 (GRCm39) missense probably damaging 0.99
R6111:Or8b12b UTSW 9 37,684,228 (GRCm39) missense probably damaging 0.99
R6838:Or8b12b UTSW 9 37,684,348 (GRCm39) missense possibly damaging 0.87
R7101:Or8b12b UTSW 9 37,684,287 (GRCm39) missense probably damaging 0.99
R7104:Or8b12b UTSW 9 37,684,437 (GRCm39) missense possibly damaging 0.64
R7224:Or8b12b UTSW 9 37,684,711 (GRCm39) missense possibly damaging 0.95
R7334:Or8b12b UTSW 9 37,684,293 (GRCm39) missense probably damaging 0.97
R7582:Or8b12b UTSW 9 37,684,117 (GRCm39) missense probably damaging 1.00
R7909:Or8b12b UTSW 9 37,684,033 (GRCm39) missense probably damaging 1.00
R8498:Or8b12b UTSW 9 37,684,560 (GRCm39) missense probably damaging 1.00
R9158:Or8b12b UTSW 9 37,684,800 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18