Incidental Mutation 'R3706:Or5b12b'
ID 271790
Institutional Source Beutler Lab
Gene Symbol Or5b12b
Ensembl Gene ENSMUSG00000045126
Gene Name olfactory receptor family 5 subfamily B member 12B
Synonyms MOR202-7, GA_x6K02T2RE5P-3213352-3214296, Olfr1445
MMRRC Submission 040699-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R3706 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 12861247-12862191 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 12861260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 5 (T5I)
Ref Sequence ENSEMBL: ENSMUSP00000058933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049624] [ENSMUST00000216805]
AlphaFold Q8VFW9
Predicted Effect probably damaging
Transcript: ENSMUST00000049624
AA Change: T5I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058933
Gene: ENSMUSG00000045126
AA Change: T5I

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.7e-54 PFAM
Pfam:7tm_1 39 288 4.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216805
Meta Mutation Damage Score 0.2551 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (41/41)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 G A 12: 112,740,085 (GRCm39) P523L possibly damaging Het
Ampd1 A G 3: 102,995,627 (GRCm39) probably benign Het
Anxa10 T A 8: 62,517,321 (GRCm39) K167M probably damaging Het
Atp8b2 A T 3: 89,852,459 (GRCm39) F866I probably damaging Het
Atxn2 T C 5: 121,923,931 (GRCm39) probably null Het
Card11 G A 5: 140,872,890 (GRCm39) R608C probably damaging Het
Cd4 T C 6: 124,856,351 (GRCm39) K47E probably benign Het
Cenpl G A 1: 160,905,985 (GRCm39) V120M probably damaging Het
Cfap69 G T 5: 5,663,843 (GRCm39) Y461* probably null Het
Cplane1 T C 15: 8,289,300 (GRCm39) S2917P unknown Het
Crct1 C A 3: 92,922,014 (GRCm39) probably benign Het
Ddx24 A T 12: 103,383,675 (GRCm39) V592E probably damaging Het
Dmc1 G C 15: 79,446,782 (GRCm39) P264A probably damaging Het
Donson A G 16: 91,483,049 (GRCm39) probably benign Het
Elovl5 C A 9: 77,887,119 (GRCm39) A170E probably null Het
Emilin1 A G 5: 31,075,166 (GRCm39) E469G possibly damaging Het
Fam178b A G 1: 36,647,529 (GRCm39) Y235H probably damaging Het
Fgfr2 T C 7: 129,800,161 (GRCm39) T358A probably benign Het
Fpgs A T 2: 32,578,008 (GRCm39) I138N probably damaging Het
Glb1l2 A G 9: 26,682,316 (GRCm39) probably benign Het
Hspa4l A T 3: 40,736,125 (GRCm39) N582I possibly damaging Het
Immt T C 6: 71,839,346 (GRCm39) M226T probably benign Het
Kif21b A G 1: 136,087,148 (GRCm39) N875S probably benign Het
Lama2 T C 10: 27,014,992 (GRCm39) D1572G probably damaging Het
Lelp1 A C 3: 92,042,714 (GRCm39) C112G unknown Het
Mctp2 A G 7: 71,863,859 (GRCm39) probably benign Het
Mettl2 T A 11: 105,030,552 (GRCm39) I376N probably benign Het
Mycbp2 A T 14: 103,393,850 (GRCm39) S2904T probably benign Het
Nwd1 A G 8: 73,393,744 (GRCm39) T377A possibly damaging Het
Or10q1 T A 19: 13,726,476 (GRCm39) L2Q probably benign Het
Pappa2 A T 1: 158,662,488 (GRCm39) Y1162* probably null Het
Phip T C 9: 82,782,796 (GRCm39) E883G probably benign Het
Phox2b T C 5: 67,253,872 (GRCm39) probably benign Het
Pigc T A 1: 161,798,663 (GRCm39) M215K probably benign Het
Rab11b G C 17: 33,966,740 (GRCm39) H162D probably benign Het
Reln T C 5: 22,200,587 (GRCm39) probably benign Het
Sgo2b T C 8: 64,381,179 (GRCm39) E551G probably damaging Het
Sucla2 A G 14: 73,828,492 (GRCm39) K336R probably damaging Het
Zfx A G X: 93,142,413 (GRCm39) V36A possibly damaging Het
Zim1 T C 7: 6,680,290 (GRCm39) I458V probably damaging Het
Other mutations in Or5b12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Or5b12b APN 19 12,861,265 (GRCm39) missense probably benign 0.03
IGL01786:Or5b12b APN 19 12,861,641 (GRCm39) missense probably damaging 0.99
IGL02375:Or5b12b APN 19 12,861,305 (GRCm39) missense probably benign 0.00
IGL03220:Or5b12b APN 19 12,861,815 (GRCm39) missense possibly damaging 0.80
IGL03232:Or5b12b APN 19 12,861,636 (GRCm39) nonsense probably null
R0505:Or5b12b UTSW 19 12,861,910 (GRCm39) missense probably damaging 1.00
R0505:Or5b12b UTSW 19 12,861,443 (GRCm39) missense probably damaging 1.00
R0541:Or5b12b UTSW 19 12,861,458 (GRCm39) missense probably damaging 1.00
R0681:Or5b12b UTSW 19 12,861,910 (GRCm39) missense probably damaging 1.00
R0681:Or5b12b UTSW 19 12,861,443 (GRCm39) missense probably damaging 1.00
R2187:Or5b12b UTSW 19 12,861,619 (GRCm39) missense probably damaging 1.00
R2231:Or5b12b UTSW 19 12,861,313 (GRCm39) missense probably benign 0.00
R4698:Or5b12b UTSW 19 12,861,985 (GRCm39) missense probably benign 0.08
R5558:Or5b12b UTSW 19 12,861,751 (GRCm39) missense probably benign 0.01
R6163:Or5b12b UTSW 19 12,861,472 (GRCm39) missense probably damaging 1.00
R7057:Or5b12b UTSW 19 12,862,006 (GRCm39) missense probably damaging 0.98
R7063:Or5b12b UTSW 19 12,861,449 (GRCm39) missense probably damaging 1.00
R7705:Or5b12b UTSW 19 12,861,871 (GRCm39) missense probably benign 0.01
R8073:Or5b12b UTSW 19 12,861,980 (GRCm39) missense probably benign 0.00
R8174:Or5b12b UTSW 19 12,861,268 (GRCm39) missense probably benign 0.04
R8922:Or5b12b UTSW 19 12,861,458 (GRCm39) missense probably damaging 1.00
R9283:Or5b12b UTSW 19 12,861,961 (GRCm39) missense probably damaging 1.00
R9461:Or5b12b UTSW 19 12,861,875 (GRCm39) missense possibly damaging 0.54
R9590:Or5b12b UTSW 19 12,861,980 (GRCm39) missense probably benign
R9784:Or5b12b UTSW 19 12,861,874 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GAATTTTGCTGCCTCAGTCTG -3'
(R):5'- ATTACTTTGGGAGTGACAGCTG -3'

Sequencing Primer
(F):5'- CAGTCTGCTTGGATCAGAATGC -3'
(R):5'- GTCCACCAGAGATAGATGACTG -3'
Posted On 2015-03-25