Incidental Mutation 'R1888:Or8b12b'
ID 211901
Institutional Source Beutler Lab
Gene Symbol Or8b12b
Ensembl Gene ENSMUSG00000058628
Gene Name olfactory receptor family 8 subfamily B member 12B
Synonyms GA_x6K02T2PVTD-31458511-31459443, Olfr875, MOR161-4
MMRRC Submission 039909-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R1888 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 37683933-37684936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37684163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 69 (D69E)
Ref Sequence ENSEMBL: ENSMUSP00000150684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080634] [ENSMUST00000215128]
AlphaFold Q7TRE5
Predicted Effect possibly damaging
Transcript: ENSMUST00000080634
AA Change: D69E

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079467
Gene: ENSMUSG00000058628
AA Change: D69E

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 1.1e-48 PFAM
Pfam:7tm_1 40 289 1.8e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215128
AA Change: D69E

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 92.9%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,960,030 (GRCm39) M80T unknown Het
4930578I06Rik A G 14: 64,223,632 (GRCm39) L48P probably damaging Het
Abcc9 A G 6: 142,625,040 (GRCm39) S452P probably benign Het
Adgrb2 T C 4: 129,907,419 (GRCm39) F977S probably damaging Het
Adgrf5 T G 17: 43,737,896 (GRCm39) probably null Het
Adgrl4 A G 3: 151,144,914 (GRCm39) N21S probably benign Het
Adss2 A T 1: 177,612,517 (GRCm39) Y77* probably null Het
Ahnak A T 19: 8,984,452 (GRCm39) D1912V probably damaging Het
Ahnak2 A G 12: 112,740,325 (GRCm39) M1249T possibly damaging Het
Akap6 A T 12: 53,188,958 (GRCm39) D2124V possibly damaging Het
Bbs12 C A 3: 37,374,712 (GRCm39) L387I probably damaging Het
Ciita T C 16: 10,328,948 (GRCm39) Y411H probably damaging Het
Ckb TCCACCACCA TCCACCA 12: 111,636,079 (GRCm39) probably benign Het
Clec9a G A 6: 129,387,249 (GRCm39) V35I probably benign Het
Cntn5 T A 9: 9,984,082 (GRCm39) Q382L possibly damaging Het
Cracdl T C 1: 37,663,364 (GRCm39) K845E possibly damaging Het
Dock2 A T 11: 34,598,169 (GRCm39) I334N probably damaging Het
Dock9 G T 14: 121,862,617 (GRCm39) T833K probably benign Het
Drd2 G A 9: 49,313,442 (GRCm39) V204I probably benign Het
Fam120a A T 13: 49,039,342 (GRCm39) I938N possibly damaging Het
Fndc1 T C 17: 7,990,621 (GRCm39) E1025G unknown Het
Fsip2 G A 2: 82,774,504 (GRCm39) D64N probably benign Het
Gm14496 T A 2: 181,641,989 (GRCm39) C553* probably null Het
Gm6020 C T 19: 61,172,391 (GRCm39) H22Y possibly damaging Het
Hexa A G 9: 59,464,586 (GRCm39) T159A probably benign Het
Hmcn1 C G 1: 150,695,251 (GRCm39) A218P possibly damaging Het
Hpgds A G 6: 65,115,217 (GRCm39) F22S probably damaging Het
Il5ra T A 6: 106,708,874 (GRCm39) N289Y probably damaging Het
Irf2 A T 8: 47,260,388 (GRCm39) R107* probably null Het
Kcnk6 T C 7: 28,925,075 (GRCm39) I180M probably benign Het
Krtap5-3 G A 7: 141,755,979 (GRCm39) probably benign Het
Lrig1 C T 6: 94,631,859 (GRCm39) A114T probably benign Het
Lrrc37a A G 11: 103,389,587 (GRCm39) V1946A probably benign Het
Lrrc8b T C 5: 105,629,217 (GRCm39) V521A probably benign Het
Macf1 T G 4: 123,348,835 (GRCm39) I2154L possibly damaging Het
Macf1 C A 4: 123,368,505 (GRCm39) E2085D probably benign Het
Maml1 C T 11: 50,157,468 (GRCm39) A236T probably benign Het
Mdc1 C A 17: 36,165,117 (GRCm39) T1481K probably benign Het
Mecp2 C T X: 73,080,781 (GRCm39) A79T probably damaging Het
Mfap3l T C 8: 61,124,424 (GRCm39) V222A possibly damaging Het
Mis18bp1 A G 12: 65,196,102 (GRCm39) I554T probably benign Het
Mpped2 T C 2: 106,529,790 (GRCm39) I13T probably benign Het
Mthfd1l C A 10: 4,056,528 (GRCm39) T948K probably damaging Het
Mtus1 C T 8: 41,537,362 (GRCm39) S118N probably damaging Het
Mtx3 A G 13: 92,984,191 (GRCm39) E156G probably benign Het
Mybbp1a C T 11: 72,336,863 (GRCm39) T565I probably benign Het
Myh2 G A 11: 67,071,676 (GRCm39) V498M probably damaging Het
Myo15b G A 11: 115,777,899 (GRCm39) G1049S probably damaging Het
Myo1b T A 1: 51,799,562 (GRCm39) probably null Het
Ndufa2 T A 18: 36,877,573 (GRCm39) probably benign Het
Nipal2 T C 15: 34,625,167 (GRCm39) I129M possibly damaging Het
Nt5dc3 A G 10: 86,669,926 (GRCm39) N507S possibly damaging Het
Or4b12 A G 2: 90,095,913 (GRCm39) L287P probably damaging Het
Pcdhb17 G A 18: 37,620,438 (GRCm39) probably null Het
Pcyt2 A G 11: 120,508,677 (GRCm39) M1T probably null Het
Pla2g2d T C 4: 138,503,126 (GRCm39) M1T probably null Het
Plekhg6 T C 6: 125,340,306 (GRCm39) T685A probably damaging Het
Pramel19 T A 4: 101,798,335 (GRCm39) V102E probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Pxk T C 14: 8,151,540 (GRCm38) S452P probably damaging Het
Rab42 A T 4: 132,030,529 (GRCm39) D40E probably benign Het
Rapgef6 A C 11: 54,551,654 (GRCm39) T836P probably damaging Het
Serpina3a A G 12: 104,082,362 (GRCm39) D45G probably benign Het
Sntb1 T A 15: 55,612,745 (GRCm39) R278* probably null Het
Spice1 T G 16: 44,185,989 (GRCm39) S111A probably damaging Het
Stk40 T A 4: 126,019,538 (GRCm39) L90Q probably damaging Het
Syk A G 13: 52,794,826 (GRCm39) Y520C probably damaging Het
Syngr2 G A 11: 117,704,224 (GRCm39) V170M possibly damaging Het
Tcf12 A T 9: 71,765,816 (GRCm39) D541E possibly damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tlr4 T C 4: 66,759,409 (GRCm39) V734A probably damaging Het
Tmem132a T C 19: 10,840,863 (GRCm39) E389G probably damaging Het
Tmem150b A G 7: 4,712,044 (GRCm39) I112T probably benign Het
Tril A G 6: 53,796,577 (GRCm39) L215P probably damaging Het
Trim24 G T 6: 37,934,013 (GRCm39) R652L probably damaging Het
Ttn G A 2: 76,623,151 (GRCm39) P15429S probably damaging Het
Ttn T A 2: 76,706,302 (GRCm39) probably benign Het
Tubgcp2 A G 7: 139,579,183 (GRCm39) V701A probably damaging Het
Tubgcp2 A G 7: 139,586,069 (GRCm39) F407L probably damaging Het
Vmn1r30 A C 6: 58,412,475 (GRCm39) L119R possibly damaging Het
Washc5 A C 15: 59,231,174 (GRCm39) L363R probably damaging Het
Zan T C 5: 137,387,590 (GRCm39) T4874A unknown Het
Zfp420 A T 7: 29,573,933 (GRCm39) H51L probably damaging Het
Zfp512b C A 2: 181,230,235 (GRCm39) R497L probably damaging Het
Zmat4 A G 8: 24,505,177 (GRCm39) N139S probably damaging Het
Zng1 A T 19: 24,932,769 (GRCm39) V88D probably 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
IGL02966:Or8b12b APN 9 37,684,882 (GRCm39) missense probably benign 0.28
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
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
Predicted Primers PCR Primer
(F):5'- TGCCAAGAATTCCTCTGTGAC -3'
(R):5'- CATGGTGACCGTGTACATCAGG -3'

Sequencing Primer
(F):5'- ACAGAGTTCATCCTTGCAGG -3'
(R):5'- CGTGTACATCAGGGGGTTACAGATC -3'
Posted On 2014-06-30