Incidental Mutation 'R5664:Or4b12'
ID 444234
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 043307-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R5664 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 90095855-90096772 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90095959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 272 (F272L)
Ref Sequence ENSEMBL: ENSMUSP00000149028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099751] [ENSMUST00000216383]
AlphaFold Q8VG62
Predicted Effect probably damaging
Transcript: ENSMUST00000099751
AA Change: F272L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097340
Gene: ENSMUSG00000075062
AA Change: F272L

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.1e-50 PFAM
Pfam:7tm_1 39 285 6.7e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216383
AA Change: F272L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217396
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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
0610030E20Rik T A 6: 72,325,977 (GRCm39) probably null Het
9430015G10Rik T A 4: 156,208,016 (GRCm39) L112H probably damaging Het
Acaca T C 11: 84,134,210 (GRCm39) L441P probably damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Arsj A T 3: 126,232,306 (GRCm39) I351F probably damaging Het
Atp6v1b2 A G 8: 69,560,272 (GRCm39) T373A probably damaging Het
Atr C A 9: 95,787,866 (GRCm39) N1486K probably benign Het
Avl9 T C 6: 56,730,824 (GRCm39) S583P probably damaging Het
Bptf A T 11: 106,964,525 (GRCm39) D1493E probably benign Het
Brme1 A T 8: 84,893,288 (GRCm39) I152F probably benign Het
C2cd2l T C 9: 44,225,069 (GRCm39) E548G probably damaging Het
Capn3 G A 2: 120,307,506 (GRCm39) R15Q probably benign Het
Ccl3 A G 11: 83,540,039 (GRCm39) F22S probably benign Het
Clcf1 T C 19: 4,272,150 (GRCm39) F69S probably damaging Het
Col13a1 T C 10: 61,686,895 (GRCm39) E170G probably damaging Het
Dhx29 T A 13: 113,083,413 (GRCm39) F489L probably damaging Het
Dhx8 A T 11: 101,631,577 (GRCm39) N390I probably damaging Het
Dkk1 T A 19: 30,526,189 (GRCm39) Y135F probably benign Het
Edil3 G T 13: 89,467,832 (GRCm39) V446F probably damaging Het
Epha5 T A 5: 84,479,725 (GRCm39) E93V probably damaging Het
Epsti1 C T 14: 78,201,104 (GRCm39) T196I possibly damaging Het
Fras1 T C 5: 96,876,394 (GRCm39) S2376P possibly damaging Het
Frem2 A G 3: 53,559,911 (GRCm39) V1532A probably benign Het
Fsip2 T A 2: 82,818,439 (GRCm39) M4724K probably benign Het
Gcat T A 15: 78,927,273 (GRCm39) L238Q probably damaging Het
Gimap6 T C 6: 48,679,209 (GRCm39) K276E probably benign Het
Gjb5 T A 4: 127,249,722 (GRCm39) I141F probably benign Het
Glt6d1 T C 2: 25,704,192 (GRCm39) I7V probably benign Het
Gtf2h5 G A 17: 6,134,799 (GRCm39) G30R probably damaging Het
Herc6 C A 6: 57,595,669 (GRCm39) T449K probably benign Het
Hpn A T 7: 30,798,687 (GRCm39) Y132N probably damaging Het
Hpx A T 7: 105,244,355 (GRCm39) M190K probably benign Het
Inf2 A G 12: 112,578,162 (GRCm39) H1151R unknown Het
Krt74 A G 15: 101,669,014 (GRCm39) noncoding transcript Het
Loxl3 G A 6: 83,026,863 (GRCm39) S564N probably benign Het
Map7 T A 10: 20,143,105 (GRCm39) V418E unknown Het
Mrpl37 T C 4: 106,921,588 (GRCm39) N214D probably benign Het
Mthfr T C 4: 148,139,923 (GRCm39) Y656H probably damaging Het
Myo9b A G 8: 71,812,526 (GRCm39) D2099G probably benign Het
Nktr T A 9: 121,578,483 (GRCm39) C825* probably null Het
Nomo1 A G 7: 45,725,581 (GRCm39) E1029G probably benign Het
Nup133 T C 8: 124,633,020 (GRCm39) D1037G probably benign Het
Or5w22 T C 2: 87,363,178 (GRCm39) L267P probably benign Het
Pcdhb14 T A 18: 37,582,049 (GRCm39) V385D possibly damaging Het
Pik3c2g T C 6: 139,682,733 (GRCm39) L38P probably damaging Het
Pkd1 A T 17: 24,788,345 (GRCm39) D701V probably damaging Het
Pnpla6 A G 8: 3,587,478 (GRCm39) T1070A probably damaging Het
Ppl T C 16: 4,923,919 (GRCm39) D185G probably benign Het
Prp2rt C A 13: 97,235,629 (GRCm39) L39F probably damaging Het
Prss1l C T 6: 41,371,605 (GRCm39) P17L probably benign Het
Prune1 A T 3: 95,165,489 (GRCm39) L261Q probably damaging Het
Qser1 A T 2: 104,608,541 (GRCm39) L1444I probably damaging Het
Serpina6 A C 12: 103,620,726 (GRCm39) C8G probably damaging Het
Sla2 A T 2: 156,716,919 (GRCm39) D180E probably benign Het
Slc4a4 C T 5: 89,176,103 (GRCm39) L25F probably damaging Het
Snhg16 A T 11: 116,563,490 (GRCm39) T27S possibly damaging Het
Tbx3 A G 5: 119,816,796 (GRCm39) K311R possibly damaging Het
Tdpoz6 A G 3: 93,599,994 (GRCm39) F125S probably benign Het
Thbs2 A T 17: 14,910,099 (GRCm39) C167S probably damaging Het
Trak1 T A 9: 121,301,373 (GRCm39) C710S possibly damaging Het
Tsks G A 7: 44,603,208 (GRCm39) E337K probably damaging Het
Vcpip1 A G 1: 9,816,604 (GRCm39) I593T probably damaging Het
Vmn2r118 A G 17: 55,899,765 (GRCm39) I713T possibly damaging Het
Vmn2r23 C T 6: 123,690,033 (GRCm39) T303M probably damaging Het
Vmn2r68 A T 7: 84,882,978 (GRCm39) M258K probably benign Het
Vmn2r76 A G 7: 85,895,202 (GRCm39) probably null Het
Wap A G 11: 6,588,609 (GRCm39) I5T possibly damaging Het
Zfp235 A C 7: 23,841,576 (GRCm39) H665P probably 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
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
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'- TGCAAGCAGAACCCATTTCAATG -3'
(R):5'- CAGTGACACCTTTATGGAGAGG -3'

Sequencing Primer
(F):5'- GCAGAACCCATTTCAATGAGCAC -3'
(R):5'- ATGGCTAACAGTGGTCTATTCTC -3'
Posted On 2016-11-09