Incidental Mutation 'R8073:Or5b12b'
ID 620382
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 # R8073 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 12861247-12862191 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12861980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 245 (V245E)
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: V245E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000058933
Gene: ENSMUSG00000045126
AA Change: V245E

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,337,019 (GRCm39) V533I probably benign Het
Akap3 A T 6: 126,842,736 (GRCm39) T452S probably damaging Het
Angpt1 C T 15: 42,301,699 (GRCm39) M436I probably benign Het
B3galt4 T C 17: 34,169,797 (GRCm39) K147R probably damaging Het
Birc6 C A 17: 74,910,080 (GRCm39) T1491K probably damaging Het
Boll T C 1: 55,394,881 (GRCm39) probably benign Het
C6 T C 15: 4,764,675 (GRCm39) F124L probably benign Het
Camta1 T C 4: 151,163,281 (GRCm39) Y436C probably damaging Het
Celsr1 T C 15: 85,823,356 (GRCm39) N1684S probably benign Het
Cflar T C 1: 58,791,981 (GRCm39) L428P Het
Clk4 T C 11: 51,168,716 (GRCm39) I363T probably benign Het
Cnst A G 1: 179,434,002 (GRCm39) T273A probably benign Het
Col5a1 C T 2: 27,852,141 (GRCm39) A546V possibly damaging Het
Col6a6 T A 9: 105,659,146 (GRCm39) N600Y probably benign Het
Cxadr A G 16: 78,130,301 (GRCm39) N156S probably benign Het
Diaph1 C T 18: 38,024,850 (GRCm39) G537E unknown Het
Dmxl1 T A 18: 50,011,500 (GRCm39) V1219D probably damaging Het
Dnajb12 T A 10: 59,726,001 (GRCm39) Y95* probably null Het
Dnajc5g A G 5: 31,269,029 (GRCm39) T137A probably benign Het
Dpy19l3 G A 7: 35,429,173 (GRCm39) T89M probably damaging Het
Dusp19 C A 2: 80,447,828 (GRCm39) T34N probably benign Het
Eln CTCCAGCTCCGAT C 5: 134,758,003 (GRCm39) probably benign Het
Enpp1 A G 10: 24,555,142 (GRCm39) V68A possibly damaging Het
Epha7 T A 4: 28,821,022 (GRCm39) D62E probably damaging Het
Frmd4b A T 6: 97,283,674 (GRCm39) V445E probably benign Het
Gp9 A C 6: 87,756,336 (GRCm39) D117A probably benign Het
Haao T C 17: 84,142,649 (GRCm39) E152G possibly damaging Het
Ift70a2 A G 2: 75,806,997 (GRCm39) V505A probably damaging Het
Ighd A G 12: 113,379,789 (GRCm39) S52P probably benign Het
Ikzf3 T C 11: 98,358,255 (GRCm39) K361E probably benign Het
Lgi2 T A 5: 52,704,013 (GRCm39) E206V probably benign Het
Mfsd11 T A 11: 116,754,749 (GRCm39) V220E probably benign Het
Moxd1 G T 10: 24,128,848 (GRCm39) G200C probably damaging Het
Mthfd1l C A 10: 3,923,417 (GRCm39) Q55K probably benign Het
Nlrp9a T A 7: 26,260,260 (GRCm39) L672M probably damaging Het
Npvf A C 6: 50,631,349 (GRCm39) F9V probably damaging Het
Nup205 G T 6: 35,179,104 (GRCm39) probably null Het
Nup43 T C 10: 7,546,713 (GRCm39) V111A probably benign Het
Obscn C T 11: 59,026,516 (GRCm39) R229H probably benign Het
Olfml2a C A 2: 38,847,766 (GRCm39) R442S probably damaging Het
Or10j2 A G 1: 173,098,552 (GRCm39) D270G probably benign Het
Or2ag16 C A 7: 106,352,008 (GRCm39) E196* probably null Het
Or4c120 T A 2: 89,001,284 (GRCm39) I91F probably damaging Het
Or9s13 T A 1: 92,547,806 (GRCm39) D59E probably damaging Het
Pcdhga7 T C 18: 37,848,398 (GRCm39) F135S probably damaging Het
Pde4a A T 9: 21,122,065 (GRCm39) I654F probably damaging Het
Pip5kl1 G A 2: 32,473,440 (GRCm39) R359Q possibly damaging Het
Ppp2ca T C 11: 52,010,124 (GRCm39) V244A possibly damaging Het
Qrich1 T A 9: 108,411,627 (GRCm39) L384H possibly damaging Het
Rab4a T C 8: 124,554,135 (GRCm39) V62A possibly damaging Het
Ranbp10 A G 8: 106,513,261 (GRCm39) L217P probably damaging Het
Rhebl1 C T 15: 98,776,405 (GRCm39) A131T probably benign Het
Rnf150 A T 8: 83,590,546 (GRCm39) probably benign Het
Slc32a1 G A 2: 158,456,685 (GRCm39) A447T probably damaging Het
Spag5 T A 11: 78,192,803 (GRCm39) M45K probably benign Het
Spata13 A G 14: 60,928,705 (GRCm39) N88D probably damaging Het
Spred2 C A 11: 19,958,422 (GRCm39) T128N probably benign Het
Tenm2 T C 11: 36,030,471 (GRCm39) E776G possibly damaging Het
Tet1 C G 10: 62,649,132 (GRCm39) E156Q probably damaging Het
Tmc1 T C 19: 20,845,725 (GRCm39) N166S probably benign Het
Trim43a C A 9: 88,464,490 (GRCm39) Q134K possibly damaging Het
Tsks A T 7: 44,607,305 (GRCm39) M543L probably benign Het
Ttn T C 2: 76,574,181 (GRCm39) K25571E probably damaging Het
Vamp5 C A 6: 72,357,436 (GRCm39) probably benign Het
Vmn2r79 A T 7: 86,651,462 (GRCm39) Q287L probably benign Het
Zfp326 T A 5: 106,062,682 (GRCm39) V517E unknown Het
Zfp467 A T 6: 48,414,959 (GRCm39) H564Q probably damaging Het
Zfp51 G A 17: 21,684,294 (GRCm39) C303Y 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
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
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'- GACACTTCTGTCAGTGAGATGG -3'
(R):5'- AACTGCCTTTGTGCAGGTTC -3'

Sequencing Primer
(F):5'- CAGTGAGATGGTGATTTTATTTGTGG -3'
(R):5'- GAGAAATTTTGGCTTTCTCCACAGC -3'
Posted On 2020-01-23