Incidental Mutation 'R0349:Or5b12'
ID 36130
Institutional Source Beutler Lab
Gene Symbol Or5b12
Ensembl Gene ENSMUSG00000048456
Gene Name olfactory receptor family 5 subfamily B member 12
Synonyms GA_x6K02T2RE5P-3249780-3248836, MOR202-5, Olfr1448
MMRRC Submission 038556-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R0349 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 12896727-12897671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12897299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 125 (C125S)
Ref Sequence ENSEMBL: ENSMUSP00000149296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054737] [ENSMUST00000213177] [ENSMUST00000213713] [ENSMUST00000216888]
AlphaFold Q8VFX1
Predicted Effect probably damaging
Transcript: ENSMUST00000054737
AA Change: C125S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000055664
Gene: ENSMUSG00000048456
AA Change: C125S

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 3.2e-54 PFAM
Pfam:7tm_1 39 288 1e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208769
Predicted Effect probably damaging
Transcript: ENSMUST00000213177
AA Change: C125S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000213713
AA Change: C125S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216888
AA Change: C125S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 95.3%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf A T 19: 31,910,062 (GRCm39) S285C possibly damaging Het
Abcc9 A T 6: 142,610,351 (GRCm39) N604K probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adgrl3 A G 5: 81,919,491 (GRCm39) T1192A probably damaging Het
Aldh1l2 A T 10: 83,326,478 (GRCm39) Y800N probably damaging Het
Ano3 A T 2: 110,491,832 (GRCm39) V865D probably damaging Het
App A T 16: 84,810,568 (GRCm39) L545Q probably damaging Het
Atp10a A G 7: 58,453,215 (GRCm39) D798G probably damaging Het
B3galnt2 T C 13: 14,166,059 (GRCm39) V318A probably benign Het
Clcn3 T A 8: 61,394,382 (GRCm39) D49V possibly damaging Het
Clcn6 T A 4: 148,108,651 (GRCm39) K126M possibly damaging Het
Cntln T A 4: 84,914,722 (GRCm39) S510T probably damaging Het
Csk A C 9: 57,535,477 (GRCm39) C290W probably damaging Het
Dmxl1 T A 18: 50,012,349 (GRCm39) M1502K probably damaging Het
Dpy19l2 T A 9: 24,607,218 (GRCm39) N81I possibly damaging Het
Dpyd T A 3: 118,710,748 (GRCm39) C385* probably null Het
Dst G A 1: 34,238,634 (GRCm39) V1765I probably benign Het
Eif5b A G 1: 38,071,447 (GRCm39) S459G probably benign Het
Fam83d A G 2: 158,621,768 (GRCm39) I160V possibly damaging Het
Fat3 A G 9: 15,942,476 (GRCm39) F1299L probably damaging Het
Fmn1 A G 2: 113,196,141 (GRCm39) I614V unknown Het
Fsd1l T A 4: 53,679,854 (GRCm39) V184E probably damaging Het
Fyco1 A G 9: 123,626,727 (GRCm39) V1328A probably damaging Het
Ganab T A 19: 8,889,016 (GRCm39) N572K probably null Het
Gbp10 T A 5: 105,368,942 (GRCm39) D299V possibly damaging Het
Gpr83 T G 9: 14,779,563 (GRCm39) L205R probably damaging Het
Hapln2 G A 3: 87,930,936 (GRCm39) P152S probably damaging Het
Htatip2 T C 7: 49,423,140 (GRCm39) Y232H probably benign Het
Itga2b C T 11: 102,358,252 (GRCm39) V158I probably damaging Het
Kansl3 T C 1: 36,390,864 (GRCm39) D390G probably damaging Het
Kcnh2 T C 5: 24,556,235 (GRCm39) D16G probably benign Het
Kctd8 A T 5: 69,498,353 (GRCm39) F98I probably damaging Het
Kif21b A T 1: 136,077,049 (GRCm39) E357V probably damaging Het
Kmt5c C T 7: 4,749,594 (GRCm39) R371C probably damaging Het
Kndc1 T C 7: 139,490,220 (GRCm39) F241L probably benign Het
Lrba A G 3: 86,447,312 (GRCm39) D2052G probably damaging Het
Lsr T A 7: 30,658,698 (GRCm39) I54F probably damaging Het
Matk G T 10: 81,094,328 (GRCm39) L28F probably benign Het
Mdn1 T C 4: 32,750,318 (GRCm39) L4429P probably damaging Het
Med29 CCTGCTGCTGCTGCTGC CCTGCTGCTGCTGC 7: 28,091,935 (GRCm39) probably benign Het
Msln G T 17: 25,969,250 (GRCm39) Q407K possibly damaging Het
Msr1 C T 8: 40,034,868 (GRCm39) G428R probably damaging Het
Myof A G 19: 37,899,417 (GRCm39) I1040T probably damaging Het
Nckap5 A G 1: 125,954,171 (GRCm39) S794P probably benign Het
Nfkbiz C T 16: 55,639,354 (GRCm39) probably null Het
Nr2c1 C T 10: 94,031,044 (GRCm39) S535L probably damaging Het
Opn3 A C 1: 175,519,870 (GRCm39) L78R probably damaging Het
Or11h4b G A 14: 50,918,711 (GRCm39) R127C probably benign Het
Or52n3 A T 7: 104,530,199 (GRCm39) D95V possibly damaging Het
Otulinl T A 15: 27,664,876 (GRCm39) I27L probably benign Het
Pcdhb9 A G 18: 37,535,632 (GRCm39) N542S probably damaging Het
Pdc T A 1: 150,209,178 (GRCm39) N220K probably benign Het
Pde6c A T 19: 38,150,797 (GRCm39) N569Y probably damaging Het
Pgm1 A T 4: 99,820,814 (GRCm39) K219M probably damaging Het
Pitpnb C T 5: 111,494,992 (GRCm39) T99M possibly damaging Het
Pou6f2 T A 13: 18,326,589 (GRCm39) Q71L probably damaging Het
Pramel24 T G 4: 143,453,629 (GRCm39) W246G probably benign Het
Prkd1 C A 12: 50,413,139 (GRCm39) L677F probably damaging Het
Ranbp17 T C 11: 33,450,689 (GRCm39) I78V probably benign Het
Rnft2 T A 5: 118,339,450 (GRCm39) K362M possibly damaging Het
Rprd1a T A 18: 24,639,904 (GRCm39) E259V possibly damaging Het
Scara3 A T 14: 66,169,230 (GRCm39) I129N probably damaging Het
Scgb1a1 A T 19: 9,062,753 (GRCm39) probably null Het
Sec16b A T 1: 157,359,746 (GRCm39) probably null Het
Slc18a1 A T 8: 69,524,753 (GRCm39) M167K probably damaging Het
Slc6a15 C T 10: 103,254,086 (GRCm39) A674V probably benign Het
Slc6a3 T C 13: 73,715,676 (GRCm39) F437S probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Stag1 T A 9: 100,658,837 (GRCm39) N141K probably damaging Het
Sun2 T C 15: 79,614,433 (GRCm39) E321G probably damaging Het
Taar2 C A 10: 23,817,327 (GRCm39) T289K possibly damaging Het
Taar2 T C 10: 23,817,407 (GRCm39) Y316H probably benign Het
Tbcd T A 11: 121,493,809 (GRCm39) probably null Het
Tecr G A 8: 84,298,904 (GRCm39) T106I probably damaging Het
Thoc2l T C 5: 104,667,842 (GRCm39) L788P possibly damaging Het
Tmem60 T G 5: 21,091,628 (GRCm39) V131G probably benign Het
Uimc1 A G 13: 55,223,804 (GRCm39) V156A probably benign Het
Usp28 G A 9: 48,921,581 (GRCm39) W266* probably null Het
Vmn2r17 T A 5: 109,576,202 (GRCm39) S358T probably damaging Het
Wwc2 T A 8: 48,321,701 (GRCm39) Y471F unknown Het
Ythdc1 C T 5: 86,983,579 (GRCm39) R675C probably damaging Het
Zfp30 T C 7: 29,493,029 (GRCm39) S428P probably damaging Het
Zfp462 T A 4: 55,008,768 (GRCm39) C245S probably benign Het
Zscan30 T C 18: 24,104,455 (GRCm39) noncoding transcript Het
Other mutations in Or5b12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Or5b12 APN 19 12,897,490 (GRCm39) missense probably damaging 1.00
IGL01730:Or5b12 APN 19 12,896,926 (GRCm39) missense probably damaging 1.00
IGL01901:Or5b12 APN 19 12,896,947 (GRCm39) missense probably damaging 0.98
IGL02055:Or5b12 APN 19 12,896,930 (GRCm39) missense possibly damaging 0.78
R0152:Or5b12 UTSW 19 12,897,472 (GRCm39) missense possibly damaging 0.49
R0311:Or5b12 UTSW 19 12,897,460 (GRCm39) missense possibly damaging 0.91
R1873:Or5b12 UTSW 19 12,896,852 (GRCm39) missense probably damaging 1.00
R2371:Or5b12 UTSW 19 12,897,031 (GRCm39) missense probably benign 0.02
R3548:Or5b12 UTSW 19 12,897,031 (GRCm39) missense probably benign 0.02
R4697:Or5b12 UTSW 19 12,897,298 (GRCm39) missense probably damaging 0.99
R5482:Or5b12 UTSW 19 12,897,269 (GRCm39) missense probably damaging 0.96
R5748:Or5b12 UTSW 19 12,897,379 (GRCm39) missense probably damaging 1.00
R5749:Or5b12 UTSW 19 12,897,589 (GRCm39) missense probably benign 0.02
R5795:Or5b12 UTSW 19 12,897,188 (GRCm39) missense possibly damaging 0.95
R5952:Or5b12 UTSW 19 12,897,194 (GRCm39) missense probably benign 0.00
R6228:Or5b12 UTSW 19 12,897,301 (GRCm39) missense probably damaging 1.00
R6273:Or5b12 UTSW 19 12,896,764 (GRCm39) missense probably benign 0.02
R6341:Or5b12 UTSW 19 12,896,843 (GRCm39) missense probably benign 0.29
R6343:Or5b12 UTSW 19 12,896,946 (GRCm39) missense probably damaging 1.00
R6454:Or5b12 UTSW 19 12,897,395 (GRCm39) missense probably benign 0.10
R7666:Or5b12 UTSW 19 12,897,526 (GRCm39) missense probably damaging 0.99
R7810:Or5b12 UTSW 19 12,897,229 (GRCm39) missense probably benign 0.01
R7859:Or5b12 UTSW 19 12,897,346 (GRCm39) missense probably damaging 1.00
R7869:Or5b12 UTSW 19 12,896,911 (GRCm39) missense probably benign 0.26
R8518:Or5b12 UTSW 19 12,896,959 (GRCm39) missense probably damaging 0.99
R9011:Or5b12 UTSW 19 12,897,479 (GRCm39) missense probably damaging 1.00
R9043:Or5b12 UTSW 19 12,897,667 (GRCm39) missense probably benign 0.12
R9162:Or5b12 UTSW 19 12,897,024 (GRCm39) nonsense probably null
R9273:Or5b12 UTSW 19 12,897,446 (GRCm39) missense possibly damaging 0.64
R9279:Or5b12 UTSW 19 12,897,309 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CGTCCTTCAGATGAACGCATCCTC -3'
(R):5'- GTTGATCCTGCTGGACTCACATCTC -3'

Sequencing Primer
(F):5'- TGAACGCATCCTCAGAATAGTG -3'
(R):5'- CAGTCATCTATCTCTGGTGGAC -3'
Posted On 2013-05-09