Incidental Mutation 'R3816:Or8b12c'
ID 274314
Institutional Source Beutler Lab
Gene Symbol Or8b12c
Ensembl Gene ENSMUSG00000066750
Gene Name olfactory receptor family 8 subfamily B member 12C
Synonyms Olfr876, MOR161-1, GA_x6K02T2PVTD-31489645-31490577
MMRRC Submission 040881-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R3816 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 37715185-37716232 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37715465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 86 (S86L)
Ref Sequence ENSEMBL: ENSMUSP00000149930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086064] [ENSMUST00000213368] [ENSMUST00000215287]
AlphaFold Q7TRE4
Predicted Effect probably benign
Transcript: ENSMUST00000086064
AA Change: S86L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000083231
Gene: ENSMUSG00000066750
AA Change: S86L

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 1.6e-47 PFAM
Pfam:7tm_1 40 289 3.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213368
AA Change: S86L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000215287
AA Change: S86L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
Meta Mutation Damage Score 0.0833 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 100% (62/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,936,024 (GRCm39) probably benign Het
Abca2 A G 2: 25,336,083 (GRCm39) Y2151C probably damaging Het
Adamts3 T A 5: 89,853,123 (GRCm39) H509L probably damaging Het
Agfg2 T C 5: 137,652,036 (GRCm39) D441G probably benign Het
Arl8b T A 6: 108,790,658 (GRCm39) V65D probably damaging Het
As3mt A T 19: 46,696,216 (GRCm39) D8V probably benign Het
Ass1 G T 2: 31,400,117 (GRCm39) probably benign Het
Cdc42bpa A G 1: 179,972,451 (GRCm39) I634V possibly damaging Het
Cflar T C 1: 58,791,582 (GRCm39) V298A probably benign Het
Csmd1 C T 8: 16,052,522 (GRCm39) A2201T probably damaging Het
Cyp4a12b A T 4: 115,289,667 (GRCm39) D178V probably damaging Het
Dlec1 C T 9: 118,953,911 (GRCm39) A610V probably damaging Het
Dock1 C T 7: 134,346,015 (GRCm39) R186* probably null Het
E130018O15Rik T C 5: 35,540,110 (GRCm39) noncoding transcript Het
Gabrg3 G A 7: 57,031,412 (GRCm39) Q43* probably null Het
Gipc2 T C 3: 151,871,481 (GRCm39) K15R probably benign Het
Gjb2 A G 14: 57,337,530 (GRCm39) V226A probably benign Het
Glipr2 G T 4: 43,977,522 (GRCm39) A51S possibly damaging Het
Gsdme A C 6: 50,196,391 (GRCm39) S340A probably benign Het
H2-M10.2 A T 17: 36,597,254 (GRCm39) Y20* probably null Het
Hapstr1 T A 16: 8,648,358 (GRCm39) I12N probably damaging Het
Hlcs A G 16: 93,933,947 (GRCm39) V242A probably benign Het
Ifi44 T C 3: 151,454,894 (GRCm39) I110M possibly damaging Het
Il18r1 T C 1: 40,526,132 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Khk T C 5: 31,084,060 (GRCm39) S80P probably damaging Het
Ly9 G T 1: 171,416,653 (GRCm39) T537N possibly damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Myo1g A G 11: 6,460,926 (GRCm39) V706A probably benign Het
Npat T C 9: 53,481,216 (GRCm39) S1008P probably damaging Het
Or2ag18 A G 7: 106,405,027 (GRCm39) I214T probably damaging Het
Or5p59 A G 7: 107,702,705 (GRCm39) Y63C possibly damaging Het
Or8b40 A T 9: 38,027,922 (GRCm39) T277S possibly damaging Het
Or8b55 A G 9: 38,727,722 (GRCm39) K308E possibly damaging Het
Pcdha2 A G 18: 37,074,748 (GRCm39) Y793C probably benign Het
Pcdhb4 A T 18: 37,441,065 (GRCm39) D125V probably damaging Het
Pdgfrb A G 18: 61,212,017 (GRCm39) D844G probably damaging Het
Phf3 T C 1: 30,844,834 (GRCm39) D1375G probably damaging Het
Pigu A T 2: 155,141,063 (GRCm39) F276I probably damaging Het
Pomgnt1 T A 4: 116,011,139 (GRCm39) probably null Het
Psmd9 C T 5: 123,372,653 (GRCm39) probably benign Het
Rac2 T C 15: 78,450,199 (GRCm39) D47G possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sall1 G T 8: 89,759,303 (GRCm39) A267E probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpina3k A G 12: 104,307,221 (GRCm39) E151G probably benign Het
Skint5 A G 4: 113,486,319 (GRCm39) probably benign Het
Slc51b A G 9: 65,321,300 (GRCm39) probably benign Het
Sorl1 A G 9: 41,975,345 (GRCm39) L487P possibly damaging Het
Sspo A T 6: 48,458,037 (GRCm39) E3269V possibly damaging Het
Star G A 8: 26,299,905 (GRCm39) M82I probably benign Het
Tnfrsf11a C T 1: 105,737,085 (GRCm39) T64I probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Usp32 A G 11: 84,885,210 (GRCm39) probably null Het
Vmn2r18 T C 5: 151,485,148 (GRCm39) N782S probably benign Het
Vwa3a A G 7: 120,399,602 (GRCm39) T1028A probably benign Het
Xrn2 G A 2: 146,870,120 (GRCm39) G270R probably damaging Het
Zbbx G T 3: 74,992,802 (GRCm39) Q231K probably benign Het
Other mutations in Or8b12c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Or8b12c APN 9 37,716,078 (GRCm39) missense probably damaging 1.00
IGL01330:Or8b12c APN 9 37,715,516 (GRCm39) missense probably damaging 1.00
IGL02105:Or8b12c APN 9 37,715,891 (GRCm39) missense possibly damaging 0.53
IGL02505:Or8b12c APN 9 37,715,627 (GRCm39) missense probably benign 0.08
R1543:Or8b12c UTSW 9 37,715,243 (GRCm39) missense possibly damaging 0.94
R1768:Or8b12c UTSW 9 37,715,599 (GRCm39) missense probably damaging 1.00
R1960:Or8b12c UTSW 9 37,715,242 (GRCm39) missense probably benign 0.01
R2567:Or8b12c UTSW 9 37,715,509 (GRCm39) missense probably damaging 1.00
R3815:Or8b12c UTSW 9 37,715,465 (GRCm39) missense probably benign 0.05
R3817:Or8b12c UTSW 9 37,715,465 (GRCm39) missense probably benign 0.05
R3819:Or8b12c UTSW 9 37,715,465 (GRCm39) missense probably benign 0.05
R4364:Or8b12c UTSW 9 37,715,486 (GRCm39) missense probably benign 0.19
R4366:Or8b12c UTSW 9 37,715,486 (GRCm39) missense probably benign 0.19
R4620:Or8b12c UTSW 9 37,716,115 (GRCm39) missense probably benign 0.02
R5530:Or8b12c UTSW 9 37,716,103 (GRCm39) missense probably benign 0.00
R6199:Or8b12c UTSW 9 37,716,177 (GRCm39) splice site probably null
R6238:Or8b12c UTSW 9 37,715,317 (GRCm39) missense probably benign 0.26
R6893:Or8b12c UTSW 9 37,716,141 (GRCm39) makesense probably null
R7404:Or8b12c UTSW 9 37,715,257 (GRCm39) missense possibly damaging 0.80
R7806:Or8b12c UTSW 9 37,715,872 (GRCm39) missense probably damaging 0.99
R8855:Or8b12c UTSW 9 37,715,709 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTTCATCCTTGCAGGCCTG -3'
(R):5'- GGTCAGCCTTGCCATGGATATG -3'

Sequencing Primer
(F):5'- ATCCTTGCAGGCCTGACAGAC -3'
(R):5'- GGGCCATGGCTCCAACAAAAC -3'
Posted On 2015-04-02