Incidental Mutation 'R0681:Or5b12b'
ID 60985
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 038866-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R0681 (G1)
Quality Score 159
Status Validated
Chromosome 19
Chromosomal Location 12861247-12862191 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12861910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 222 (T222A)
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: T222A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058933
Gene: ENSMUSG00000045126
AA Change: T222A

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 0.3055 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.3%
Validation Efficiency 100% (68/68)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 G T 8: 84,661,279 (GRCm39) probably benign Het
Adgrv1 C A 13: 81,676,649 (GRCm39) D1341Y probably damaging Het
Ahdc1 T C 4: 132,792,827 (GRCm39) F1356S possibly damaging Het
Cdk13 A G 13: 17,895,882 (GRCm39) probably benign Het
Cfhr1 A T 1: 139,485,249 (GRCm39) S66T probably damaging Het
Cldn6 C A 17: 23,900,167 (GRCm39) Q44K probably damaging Het
Cntnap5c T C 17: 58,612,550 (GRCm39) V863A possibly damaging Het
Col6a4 T A 9: 105,944,343 (GRCm39) K1044* probably null Het
Cyb561d1 A G 3: 108,106,583 (GRCm39) V212A probably benign Het
Cyp1b1 A G 17: 80,021,275 (GRCm39) S156P probably damaging Het
Dock7 G A 4: 98,904,941 (GRCm39) H645Y probably damaging Het
Dpp3 T C 19: 4,964,682 (GRCm39) N542D probably damaging Het
Fastkd3 C T 13: 68,740,047 (GRCm39) probably benign Het
Galnt10 T A 11: 57,660,366 (GRCm39) V268D probably damaging Het
Grb14 G T 2: 64,747,631 (GRCm39) A10E probably damaging Het
Grin2c A G 11: 115,140,479 (GRCm39) V1213A probably benign Het
Grip1 C T 10: 119,846,135 (GRCm39) T570I probably damaging Het
Hif1an T C 19: 44,551,762 (GRCm39) Y71H probably benign Het
Hsd17b11 T A 5: 104,151,072 (GRCm39) I221L probably benign Het
Htra1 A T 7: 130,581,027 (GRCm39) probably benign Het
Igfn1 T C 1: 135,891,591 (GRCm39) E2308G possibly damaging Het
Mapk9 T A 11: 49,760,072 (GRCm39) S129T probably damaging Het
Med22 T C 2: 26,800,391 (GRCm39) T13A probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mtus1 A T 8: 41,446,554 (GRCm39) L489Q probably damaging Het
Naprt G A 15: 75,765,481 (GRCm39) P120S probably damaging Het
Nwd1 C T 8: 73,388,965 (GRCm39) P172L probably damaging Het
Ogfod2 A G 5: 124,250,907 (GRCm39) E62G probably null Het
Or13a1 A T 6: 116,471,361 (GRCm39) S264C probably damaging Het
Palm A C 10: 79,655,327 (GRCm39) T362P probably benign Het
Pcare T G 17: 72,056,509 (GRCm39) H1056P probably benign Het
Pcdh8 T C 14: 80,007,400 (GRCm39) T388A probably benign Het
Pclo A G 5: 14,725,332 (GRCm39) I1397V unknown Het
Per1 A G 11: 68,992,027 (GRCm39) E127G probably damaging Het
Plekha1 T C 7: 130,502,353 (GRCm39) V30A possibly damaging Het
Pramel24 A T 4: 143,454,622 (GRCm39) T307S probably benign Het
Rab26 A G 17: 24,746,940 (GRCm39) probably benign Het
Rasal2 T C 1: 156,984,750 (GRCm39) D999G possibly damaging Het
Rfx5 C T 3: 94,863,666 (GRCm39) T105I probably damaging Het
Rrp1b T C 17: 32,279,369 (GRCm39) S677P probably damaging Het
Scaf4 G A 16: 90,046,582 (GRCm39) P485S unknown Het
Scn5a A T 9: 119,368,706 (GRCm39) M273K probably damaging Het
Sec22a C T 16: 35,181,926 (GRCm39) probably null Het
Slc10a6 C A 5: 103,760,315 (GRCm39) V227F possibly damaging Het
Slc39a3 C G 10: 80,869,565 (GRCm39) E31Q probably benign Het
Spsb1 C T 4: 149,991,374 (GRCm39) V65I probably benign Het
Tdrd7 T A 4: 46,016,879 (GRCm39) M673K probably benign Het
Trim8 C A 19: 46,503,532 (GRCm39) S361R possibly damaging Het
Ucp1 T A 8: 84,021,936 (GRCm39) M256K possibly damaging Het
Vmn1r46 A T 6: 89,953,946 (GRCm39) D265V probably damaging Het
Zbtb5 T C 4: 44,993,787 (GRCm39) I532M 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 12,861,443 (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
R3706:Or5b12b UTSW 19 12,861,260 (GRCm39) missense probably damaging 1.00
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'- CCGCTATGCAGCAGTATGTAAGCC -3'
(R):5'- ACAGATGCCATCTTGTCAGTGCC -3'

Sequencing Primer
(F):5'- CACTGGGAACATTTTCAGGC -3'
(R):5'- GCACATGTGGAAAAGGCCTT -3'
Posted On 2013-07-30