Incidental Mutation 'R2509:Or4b12'
ID 251682
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
MMRRC Submission 040415-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R2509 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 90095855-90096772 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90096030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 248 (Y248C)
Ref Sequence ENSEMBL: ENSMUSP00000149028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099751] [ENSMUST00000216383]
AlphaFold Q8VG62
Predicted Effect possibly damaging
Transcript: ENSMUST00000099751
AA Change: Y248C

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097340
Gene: ENSMUSG00000075062
AA Change: Y248C

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.1e-50 PFAM
Pfam:7tm_1 39 285 6.7e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216383
AA Change: Y248C

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217396
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 96% (105/109)
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: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,200,102 (GRCm39) I497V probably benign Het
4930571K23Rik C A 7: 124,968,311 (GRCm39) noncoding transcript Het
Abca17 G T 17: 24,508,587 (GRCm39) probably benign Het
Ablim1 C T 19: 57,140,791 (GRCm39) R196Q probably damaging Het
Acot11 T C 4: 106,612,516 (GRCm39) I379V possibly damaging Het
Acot4 G A 12: 84,088,647 (GRCm39) G165D probably damaging Het
Agrn A T 4: 156,250,881 (GRCm39) probably null Het
Ahctf1 T C 1: 179,598,258 (GRCm39) S945G possibly damaging Het
Akr1c13 C T 13: 4,248,583 (GRCm39) R263C probably damaging Het
Arfgap1 T A 2: 180,615,846 (GRCm39) probably benign Het
Arhgef3 A G 14: 27,101,633 (GRCm39) K103R probably damaging Het
Cabp1 A T 5: 115,310,843 (GRCm39) N211K probably damaging Het
Cacna1c T A 6: 118,711,943 (GRCm39) D261V probably damaging Het
Car11 G A 7: 45,350,783 (GRCm39) G93E probably damaging Het
Card10 A G 15: 78,664,473 (GRCm39) I821T probably benign Het
Cast T C 13: 74,885,735 (GRCm39) I277V probably benign Het
Cenpj T C 14: 56,769,694 (GRCm39) K1165R probably null Het
Cenpk A G 13: 104,370,675 (GRCm39) probably null Het
Cfap251 A G 5: 123,394,169 (GRCm39) K353E probably benign Het
Cmya5 T C 13: 93,230,066 (GRCm39) Q1674R probably benign Het
Cnnm1 T A 19: 43,430,325 (GRCm39) V481D probably damaging Het
Cracdl T C 1: 37,664,381 (GRCm39) M506V probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyp2c50 G A 19: 40,079,013 (GRCm39) V119I probably benign Het
Dnah7b A G 1: 46,234,447 (GRCm39) T1460A probably damaging Het
Dnah8 G A 17: 30,994,019 (GRCm39) D3379N probably benign Het
Dnajc4 C T 19: 6,968,111 (GRCm39) R55H probably damaging Het
Ebf4 C T 2: 130,148,482 (GRCm39) R98* probably null Het
Epha4 G A 1: 77,488,339 (GRCm39) A47V possibly damaging Het
Ercc8 T C 13: 108,320,251 (GRCm39) probably benign Het
Exo1 T C 1: 175,733,399 (GRCm39) F75S probably damaging Het
Fam168a G T 7: 100,483,391 (GRCm39) probably null Het
Fat3 G A 9: 15,836,310 (GRCm39) R4065W possibly damaging Het
Gm5431 T A 11: 48,779,536 (GRCm39) N740I probably benign Het
Gm5900 T A 7: 104,599,571 (GRCm39) noncoding transcript Het
Gpi1 A G 7: 33,905,348 (GRCm39) S359P probably damaging Het
Gpr156 A G 16: 37,768,149 (GRCm39) R22G probably benign Het
Greb1 A G 12: 16,774,923 (GRCm39) V158A probably damaging Het
Grin2c T A 11: 115,141,894 (GRCm39) K842* probably null Het
Gsta5 T A 9: 78,202,089 (GRCm39) M1K probably null Het
Hnf4a T A 2: 163,408,161 (GRCm39) L329Q probably damaging Het
Hsp90ab1 A G 17: 45,880,267 (GRCm39) L92P probably damaging Het
Ido1 T A 8: 25,074,501 (GRCm39) R290* probably null Het
Ifnlr1 G T 4: 135,432,559 (GRCm39) D332Y probably damaging Het
Ift172 T C 5: 31,420,312 (GRCm39) N1108S probably benign Het
Igkv3-9 T A 6: 70,565,728 (GRCm39) M109K probably benign Het
Igsf10 T C 3: 59,239,287 (GRCm39) D298G probably damaging Het
Iqck T G 7: 118,475,505 (GRCm39) M98R probably benign Het
Klk1b1 T C 7: 43,618,803 (GRCm39) V60A probably damaging Het
Krtap1-3 C T 11: 99,481,653 (GRCm39) E165K unknown Het
Lair1 A G 7: 4,013,782 (GRCm39) L155P probably damaging Het
Maco1 A G 4: 134,531,699 (GRCm39) S657P probably damaging Het
Mast4 G T 13: 102,990,350 (GRCm39) S57Y probably damaging Het
Mical3 T C 6: 121,011,118 (GRCm39) H360R probably damaging Het
Muc5b A T 7: 141,412,798 (GRCm39) N1915Y unknown Het
Myh1 A G 11: 67,096,423 (GRCm39) I301V probably benign Het
Nck2 T A 1: 43,593,393 (GRCm39) V200E probably damaging Het
Odad4 T G 11: 100,444,361 (GRCm39) L222R probably damaging Het
Or2y1b T G 11: 49,209,048 (GRCm39) L225R probably damaging Het
Or4c109 T G 2: 88,817,775 (GRCm39) Y257S probably damaging Het
Or4f60 T A 2: 111,902,837 (GRCm39) L30F probably benign Het
Or4k38 C T 2: 111,166,076 (GRCm39) V116I probably damaging Het
Or52n2c G A 7: 104,574,894 (GRCm39) H26Y probably benign Het
Or5b101 T A 19: 13,005,058 (GRCm39) I212F probably damaging Het
Or8b12i A G 9: 20,082,525 (GRCm39) L114P probably damaging Het
Otoa C T 7: 120,759,695 (GRCm39) T1099I probably benign Het
Pask T A 1: 93,258,485 (GRCm39) I288F possibly damaging Het
Pcnx4 T C 12: 72,613,746 (GRCm39) W564R probably damaging Het
Pip4p1 A T 14: 51,167,115 (GRCm39) Y129* probably null Het
Pitpnm2 T C 5: 124,274,389 (GRCm39) E240G probably damaging Het
Ppp1r16b A G 2: 158,603,383 (GRCm39) Y436C possibly damaging Het
Pramel27 G A 4: 143,578,561 (GRCm39) V274I probably benign Het
Prkca T C 11: 107,870,032 (GRCm39) Y37C probably damaging Het
Rad18 T G 6: 112,652,883 (GRCm39) H238P possibly damaging Het
Rap1b T A 10: 117,654,444 (GRCm39) Q1L probably damaging Het
Rgs9 T C 11: 109,159,798 (GRCm39) Y178C probably benign Het
Rpl3l A T 17: 24,951,360 (GRCm39) D87V possibly damaging Het
Scrn2 T C 11: 96,923,992 (GRCm39) V292A possibly damaging Het
Sdad1 A G 5: 92,453,684 (GRCm39) Y35H probably benign Het
Sez6l2 T C 7: 126,552,944 (GRCm39) S177P probably benign Het
Sh3bp1 C T 15: 78,795,706 (GRCm39) P612S probably damaging Het
Shank1 T C 7: 44,001,148 (GRCm39) S956P unknown Het
Shank1 G A 7: 44,001,547 (GRCm39) A1089T unknown Het
Shprh G A 10: 11,042,468 (GRCm39) C817Y probably damaging Het
Spata22 C T 11: 73,236,593 (GRCm39) P300S probably damaging Het
Sstr2 A T 11: 113,515,749 (GRCm39) I223F probably damaging Het
Stom C T 2: 35,210,354 (GRCm39) A217T probably damaging Het
Stpg1 T C 4: 135,263,960 (GRCm39) V341A probably benign Het
Tagap A G 17: 8,147,586 (GRCm39) T99A probably benign Het
Tas1r2 A G 4: 139,387,162 (GRCm39) N207S probably damaging Het
Thbs2 A G 17: 14,906,105 (GRCm39) V265A probably benign Het
Thyn1 A G 9: 26,911,316 (GRCm39) R3G possibly damaging Het
Tia1 T A 6: 86,401,312 (GRCm39) probably null Het
Tktl2 A G 8: 66,965,504 (GRCm39) E354G probably benign Het
Tmc8 A G 11: 117,683,511 (GRCm39) T689A possibly damaging Het
Tmem11 A T 11: 60,755,807 (GRCm39) probably null Het
Tnik T C 3: 28,722,064 (GRCm39) V1310A probably damaging Het
Trappc10 A G 10: 78,047,357 (GRCm39) S380P possibly damaging Het
Trim8 C T 19: 46,503,734 (GRCm39) P429S probably benign Het
Ttn C A 2: 76,687,756 (GRCm39) probably benign Het
Ulk2 T C 11: 61,678,340 (GRCm39) Y793C probably benign Het
Vill G A 9: 118,899,370 (GRCm39) V337M possibly damaging Het
Vps53 C A 11: 75,957,661 (GRCm39) V364F possibly damaging Het
Zan A T 5: 137,454,848 (GRCm39) I1396N unknown Het
Zfa-ps A C 10: 52,420,339 (GRCm39) noncoding transcript Het
Zfp426 T C 9: 20,381,977 (GRCm39) T337A possibly damaging Het
Zfp536 T C 7: 37,267,403 (GRCm39) E671G possibly damaging Het
Zfp985 A G 4: 147,667,443 (GRCm39) T104A possibly damaging 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
PIT4468001:Or4b12 UTSW 2 90,096,564 (GRCm39) missense probably benign 0.00
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
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'- AGCAGAACCCATTTCAATGAGC -3'
(R):5'- GCAGTGACACCTTTATGGAGAG -3'

Sequencing Primer
(F):5'- GTTCTAATTTTGTTGTGGACCTTCAC -3'
(R):5'- GAGAGGTTTATTGTAATGGCTAACAG -3'
Posted On 2014-12-04