Incidental Mutation 'R4698:Or5b12b'
ID 355871
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R4698 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 12861247-12862191 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 12861985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 247 (F247V)
Ref Sequence ENSEMBL: ENSMUSP00000058933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049624] [ENSMUST00000081236] [ENSMUST00000216805]
AlphaFold Q8VFW9
Predicted Effect probably benign
Transcript: ENSMUST00000049624
AA Change: F247V

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000058933
Gene: ENSMUSG00000045126
AA Change: F247V

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: ENSMUST00000081236
SMART Domains Protein: ENSMUSP00000079994
Gene: ENSMUSG00000057817

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 2e-51 PFAM
Pfam:7TM_GPCR_Srsx 36 306 5.1e-6 PFAM
Pfam:7tm_1 42 291 9.7e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216805
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik A G 17: 48,349,049 (GRCm39) V11A possibly damaging Het
6030452D12Rik T C 8: 107,230,979 (GRCm39) I55T unknown Het
Aadacl2 A G 3: 59,932,460 (GRCm39) D325G probably benign Het
Adh1 A G 3: 137,988,274 (GRCm39) S113G probably benign Het
Agxt2 T C 15: 10,392,130 (GRCm39) probably null Het
Aicda C T 6: 122,530,847 (GRCm39) probably benign Het
Aifm2 T C 10: 61,563,535 (GRCm39) M135T probably benign Het
Asah2 T C 19: 32,031,871 (GRCm39) probably null Het
Btbd17 T C 11: 114,682,543 (GRCm39) R390G probably damaging Het
Cadps T C 14: 12,705,654 (GRCm38) E247G possibly damaging Het
Cds2 T C 2: 132,146,873 (GRCm39) I383T probably damaging Het
Celf3 T A 3: 94,392,174 (GRCm39) probably null Het
Crhr2 T C 6: 55,079,852 (GRCm39) S162G possibly damaging Het
Dapl1 A T 2: 59,335,118 (GRCm39) K91* probably null Het
Ddx60 A C 8: 62,465,458 (GRCm39) M1372L probably benign Het
Dnah2 A T 11: 69,389,358 (GRCm39) F845I probably damaging Het
Dscam T C 16: 96,411,524 (GRCm39) D1784G probably damaging Het
Ech1 T C 7: 28,531,478 (GRCm39) V310A probably benign Het
Eef1g A G 19: 8,955,330 (GRCm39) D393G possibly damaging Het
Eif3k T C 7: 28,671,969 (GRCm39) I172V possibly damaging Het
Foxd4 A G 19: 24,877,625 (GRCm39) F192L probably damaging Het
Gpr153 T A 4: 152,366,240 (GRCm39) S268R probably damaging Het
H3c13 C A 3: 96,176,394 (GRCm39) R129S probably damaging Het
Ivl T C 3: 92,478,698 (GRCm39) K456E unknown Het
Kif20b A T 19: 34,928,944 (GRCm39) D1190V probably damaging Het
Kif21a T A 15: 90,840,508 (GRCm39) I1223L possibly damaging Het
Lmf1 T C 17: 25,798,324 (GRCm39) V55A probably damaging Het
Loxhd1 A G 18: 77,459,987 (GRCm39) E659G possibly damaging Het
Lrrc37a T C 11: 103,394,930 (GRCm39) E165G possibly damaging Het
Mios T C 6: 8,228,113 (GRCm39) Y677H possibly damaging Het
Mnx1 T A 5: 29,679,057 (GRCm39) K342M unknown Het
Mtpap A T 18: 4,375,724 (GRCm39) T35S possibly damaging Het
Ndc1 C G 4: 107,268,334 (GRCm39) D623E probably benign Het
Nedd4l A G 18: 65,336,951 (GRCm39) Y666C probably damaging Het
Or52s6 T A 7: 103,091,842 (GRCm39) I163F possibly damaging Het
Or5ac22 T C 16: 59,135,720 (GRCm39) T17A probably damaging Het
Or5m10b A G 2: 85,699,596 (GRCm39) Y220C possibly damaging Het
Papss1 G T 3: 131,313,092 (GRCm39) V369F probably damaging Het
Pcdhac2 T A 18: 37,278,822 (GRCm39) Y601N probably damaging Het
Pde7a C T 3: 19,365,095 (GRCm39) R24Q probably damaging Het
Phf21a A G 2: 92,187,297 (GRCm39) D445G probably damaging Het
Plekho1 T A 3: 95,902,964 (GRCm39) N15I possibly damaging Het
Pprc1 T C 19: 46,057,634 (GRCm39) probably benign Het
Ralgapa1 A T 12: 55,724,061 (GRCm39) probably null Het
Rrp12 T C 19: 41,861,481 (GRCm39) E942G probably benign Het
Skor1 T C 9: 63,051,830 (GRCm39) D685G probably benign Het
Smim23 A T 11: 32,774,510 (GRCm39) I3N possibly damaging Het
Spata7 A T 12: 98,630,536 (GRCm39) I333F probably damaging Het
Sppl2c T C 11: 104,079,141 (GRCm39) I647T probably benign Het
Srgap1 C A 10: 121,628,392 (GRCm39) R837L probably benign Het
Stpg2 C A 3: 139,014,990 (GRCm39) P385H probably damaging Het
Tmem238 C A 7: 4,792,016 (GRCm39) E19* probably null Het
Top2b A T 14: 16,387,331 (GRCm38) K140* probably null Het
Trp53 T A 11: 69,479,248 (GRCm39) L142* probably null Het
Tyro3 A T 2: 119,633,751 (GRCm39) D133V probably damaging Het
Virma T A 4: 11,528,636 (GRCm39) I1291N probably damaging Het
Vmn1r213 A G 13: 23,195,507 (GRCm39) probably benign Het
Zbtb10 T C 3: 9,329,610 (GRCm39) S323P possibly damaging Het
Zfp521 A T 18: 13,978,660 (GRCm39) N584K probably damaging Het
Zfp944 A G 17: 22,558,180 (GRCm39) C356R 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
R3706:Or5b12b UTSW 19 12,861,260 (GRCm39) missense probably damaging 1.00
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'- CACTTCTGTCAGTGAGATGGTG -3'
(R):5'- AACTGCCTTTGTGCAGGTTC -3'

Sequencing Primer
(F):5'- CAGTGAGATGGTGATTTTATTTGTGG -3'
(R):5'- GAGAAATTTTGGCTTTCTCCACAGC -3'
Posted On 2015-10-21