Incidental Mutation 'PIT4468001:Or4b12'
ID 555626
Institutional Source Beutler Lab
Gene Symbol Or4b12
Ensembl Gene ENSMUSG00000075062
Gene Name olfactory receptor family 4 subfamily B member 12
Synonyms GA_x6K02T2Q125-51620802-51619885, Olfr1271, MOR227-5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # PIT4468001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 90095855-90096772 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 90096564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 70 (C70F)
Ref Sequence ENSEMBL: ENSMUSP00000149028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099751] [ENSMUST00000216383]
AlphaFold Q8VG62
Predicted Effect probably benign
Transcript: ENSMUST00000099751
AA Change: C70F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097340
Gene: ENSMUSG00000075062
AA Change: C70F

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.1e-50 PFAM
Pfam:7tm_1 39 285 6.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216383
AA Change: C70F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 93.0%
  • 3x: 90.7%
  • 10x: 85.2%
  • 20x: 72.8%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik C T 14: 4,348,940 (GRCm38) L34F probably damaging Het
Alms1 T C 6: 85,601,701 (GRCm39) probably null Het
Arhgap15 C A 2: 44,133,143 (GRCm39) Q350K probably damaging Het
Bbs1 T A 19: 4,956,190 (GRCm39) H35L probably benign Het
Cep85 T C 4: 133,876,008 (GRCm39) N468S probably damaging Het
Chd8 T C 14: 52,455,338 (GRCm39) I1050V possibly damaging Het
Chd8 A C 14: 52,445,453 (GRCm39) D1709E probably benign Het
Clec9a G A 6: 129,396,597 (GRCm39) probably null Het
Cyp2c70 T A 19: 40,153,806 (GRCm39) D261V probably damaging Het
Deup1 T C 9: 15,475,301 (GRCm39) N420D possibly damaging Het
Dpys T A 15: 39,720,601 (GRCm39) D53V probably damaging Het
Edem1 A G 6: 108,821,828 (GRCm39) E295G probably damaging Het
Farp2 G T 1: 93,456,499 (GRCm39) E61* probably null Het
Fat3 T G 9: 15,907,647 (GRCm39) D2785A probably benign Het
Fbxo30 T A 10: 11,166,700 (GRCm39) M474K possibly damaging Het
Gm13090 C A 4: 151,175,539 (GRCm39) P93Q unknown Het
Gm21976 A T 13: 98,443,535 (GRCm39) R229* probably null Het
Gpr108 A T 17: 57,554,563 (GRCm39) L25Q probably null Het
Hdac9 C A 12: 34,145,933 (GRCm39) V920F unknown Het
Ighv13-2 T C 12: 114,321,593 (GRCm39) S49G probably benign Het
Krt6a T C 15: 101,602,352 (GRCm39) Y111C probably damaging Het
Mib1 T C 18: 10,798,463 (GRCm39) S775P possibly damaging Het
Mki67 A G 7: 135,300,876 (GRCm39) I1386T probably benign Het
Mroh2b A G 15: 4,942,294 (GRCm39) E352G probably damaging Het
Nfya A G 17: 48,702,805 (GRCm39) M61T unknown Het
Ntn4 A G 10: 93,480,587 (GRCm39) T104A probably damaging Het
Numb G A 12: 83,854,921 (GRCm39) T135I probably damaging Het
Or52ab4 A C 7: 102,987,807 (GRCm39) E182A probably damaging Het
Or5m5 A T 2: 85,814,792 (GRCm39) T203S probably benign Het
Parpbp A C 10: 87,979,935 (GRCm39) L7R probably benign Het
Pcdhb8 T C 18: 37,489,686 (GRCm39) Y455H probably damaging Het
Pcdhga10 T A 18: 37,880,936 (GRCm39) D232E probably damaging Het
Pcdhga9 T A 18: 37,872,527 (GRCm39) C785* probably null Het
Pkd1l3 A G 8: 110,391,131 (GRCm39) Y1913C possibly damaging Het
Pld4 T G 12: 112,734,256 (GRCm39) L374R probably damaging Het
Ppp1r13b A T 12: 111,805,136 (GRCm39) I350N probably benign Het
Rc3h2 C A 2: 37,289,651 (GRCm39) G387V probably damaging Het
Rfwd3 T C 8: 112,009,352 (GRCm39) H408R probably benign Het
Rpl3l A G 17: 24,954,457 (GRCm39) T173A probably benign Het
Sdad1 T C 5: 92,439,777 (GRCm39) D416G probably damaging Het
Srp72 C A 5: 77,142,053 (GRCm39) T430K probably benign Het
Steap1 C A 5: 5,786,642 (GRCm39) G265V probably damaging Het
Sulf2 A T 2: 165,922,720 (GRCm39) I670N probably benign Het
Tcf7l2 A T 19: 55,730,820 (GRCm39) D16V probably damaging Het
Tmem100 T A 11: 89,926,187 (GRCm39) S5T probably benign Het
Tnc C A 4: 63,882,904 (GRCm39) D1906Y probably damaging Het
Trak1 T C 9: 121,282,398 (GRCm39) S436P probably benign Het
Ttyh1 T C 7: 4,122,771 (GRCm39) Y40H possibly damaging Het
Ubxn8 T A 8: 34,111,569 (GRCm39) S275C probably benign Het
Umodl1 A G 17: 31,178,252 (GRCm39) Y76C probably damaging Het
Upk3b C T 5: 136,071,861 (GRCm39) T222M probably benign Het
Usp42 T A 5: 143,700,399 (GRCm39) K1208M probably damaging Het
Vmn2r25 A T 6: 123,816,557 (GRCm39) D341E probably benign Het
Vmn2r83 T G 10: 79,313,884 (GRCm39) L164R probably damaging Het
Vwa8 G T 14: 79,420,501 (GRCm39) R1734L probably damaging Het
Zfand2b G T 1: 75,146,476 (GRCm39) R117L probably benign Het
Other mutations in Or4b12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02386:Or4b12 APN 2 90,096,295 (GRCm39) missense probably damaging 0.97
IGL02901:Or4b12 APN 2 90,096,052 (GRCm39) missense probably damaging 1.00
PIT4466001:Or4b12 UTSW 2 90,096,639 (GRCm39) missense probably damaging 0.97
R0325:Or4b12 UTSW 2 90,095,880 (GRCm39) missense probably null
R1350:Or4b12 UTSW 2 90,096,690 (GRCm39) missense probably damaging 0.97
R1888:Or4b12 UTSW 2 90,095,913 (GRCm39) missense probably damaging 1.00
R1888:Or4b12 UTSW 2 90,095,913 (GRCm39) missense probably damaging 1.00
R2509:Or4b12 UTSW 2 90,096,030 (GRCm39) missense possibly damaging 0.91
R2510:Or4b12 UTSW 2 90,095,950 (GRCm39) missense probably damaging 0.98
R4113:Or4b12 UTSW 2 90,096,684 (GRCm39) missense probably damaging 1.00
R5414:Or4b12 UTSW 2 90,096,046 (GRCm39) missense probably benign 0.07
R5580:Or4b12 UTSW 2 90,096,694 (GRCm39) missense probably benign 0.00
R5664:Or4b12 UTSW 2 90,095,959 (GRCm39) missense probably damaging 0.96
R5666:Or4b12 UTSW 2 90,096,308 (GRCm39) missense probably benign 0.04
R5670:Or4b12 UTSW 2 90,096,308 (GRCm39) missense probably benign 0.04
R5881:Or4b12 UTSW 2 90,096,786 (GRCm39) splice site probably null
R6493:Or4b12 UTSW 2 90,096,052 (GRCm39) missense probably damaging 1.00
R7688:Or4b12 UTSW 2 90,095,959 (GRCm39) missense probably damaging 0.96
R7719:Or4b12 UTSW 2 90,096,603 (GRCm39) missense probably damaging 1.00
R8041:Or4b12 UTSW 2 90,096,488 (GRCm39) nonsense probably null
R8220:Or4b12 UTSW 2 90,096,387 (GRCm39) missense probably benign 0.01
R8494:Or4b12 UTSW 2 90,095,880 (GRCm39) missense probably null
R8736:Or4b12 UTSW 2 90,095,922 (GRCm39) missense possibly damaging 0.52
R8861:Or4b12 UTSW 2 90,096,803 (GRCm39) start gained probably benign
R9130:Or4b12 UTSW 2 90,096,358 (GRCm39) missense probably damaging 1.00
R9514:Or4b12 UTSW 2 90,096,709 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTTGCAGATGGCCACATAGCG -3'
(R):5'- TCAACACATGTGAGCTGACC -3'

Sequencing Primer
(F):5'- TAGCGATCGTAGGCCATCATC -3'
(R):5'- CACATGTGAGCTGACCCAATGG -3'
Posted On 2019-06-07