Incidental Mutation 'R2031:Or5b112'
ID 221307
Institutional Source Beutler Lab
Gene Symbol Or5b112
Ensembl Gene ENSMUSG00000096485
Gene Name olfactory receptor family 5 subfamily B member 112
Synonyms GA_x6K02T2RE5P-3672907-3673839, Olfr1466, MOR202-12
MMRRC Submission 040038-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R2031 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 13319124-13321692 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13319770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 216 (L216S)
Ref Sequence ENSEMBL: ENSMUSP00000147188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075868] [ENSMUST00000207124]
AlphaFold Q8VFW4
Predicted Effect probably benign
Transcript: ENSMUST00000075868
AA Change: L216S

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000075265
Gene: ENSMUSG00000096485
AA Change: L216S

DomainStartEndE-ValueType
Pfam:7tm_4 32 310 4.1e-49 PFAM
Pfam:7TM_GPCR_Srsx 36 306 1.9e-6 PFAM
Pfam:7tm_1 42 291 7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207124
AA Change: L216S

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 98% (55/56)
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
Adam1b G T 5: 121,639,118 (GRCm39) N642K possibly damaging Het
Akap11 T A 14: 78,747,477 (GRCm39) I1637L possibly damaging Het
Aoc1l1 T C 6: 48,952,789 (GRCm39) V238A probably damaging Het
Arhgap28 G T 17: 68,203,111 (GRCm39) T114N probably damaging Het
Arid5b A G 10: 68,114,518 (GRCm39) probably null Het
Atp10a T A 7: 58,477,678 (GRCm39) C1292* probably null Het
Casp4 A G 9: 5,321,401 (GRCm39) S51G probably benign Het
Cast T C 13: 74,946,771 (GRCm39) probably null Het
Ccdc87 T C 19: 4,891,715 (GRCm39) F736L probably damaging Het
Cdon T C 9: 35,415,370 (GRCm39) S1203P probably damaging Het
Cep290 G A 10: 100,348,262 (GRCm39) probably null Het
Cep85 A G 4: 133,859,761 (GRCm39) V634A probably benign Het
Cpeb3 C T 19: 37,022,079 (GRCm39) R589H probably damaging Het
Crebrf T G 17: 26,961,895 (GRCm39) S331A probably damaging Het
Cul5 A G 9: 53,578,480 (GRCm39) V36A probably benign Het
Dock2 T A 11: 34,618,297 (GRCm39) probably benign Het
Dstyk G A 1: 132,380,929 (GRCm39) A475T probably damaging Het
Enpp6 C A 8: 47,506,649 (GRCm39) P151Q probably damaging Het
Fan1 A G 7: 64,004,172 (GRCm39) Y765H probably damaging Het
Hsfy2 A T 1: 56,675,476 (GRCm39) S354T probably benign Het
Ifi204 A C 1: 173,580,343 (GRCm39) F389C probably damaging Het
Ikbip T C 10: 90,932,474 (GRCm39) Y373H probably benign Het
Kbtbd11 C A 8: 15,078,021 (GRCm39) P207T possibly damaging Het
Krt73 A C 15: 101,707,199 (GRCm39) probably benign Het
Mfsd6 T A 1: 52,748,013 (GRCm39) Q284L probably benign Het
Mmp1b T A 9: 7,368,607 (GRCm39) D415V possibly damaging Het
Mrc1 A T 2: 14,326,584 (GRCm39) T1161S probably damaging Het
Ms4a18 A G 19: 10,991,014 (GRCm39) S27P probably benign Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Mycbp2 G T 14: 103,426,028 (GRCm39) R2366S probably damaging Het
Nfkbia A G 12: 55,537,937 (GRCm39) L172P probably damaging Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Or1d2 A G 11: 74,255,777 (GRCm39) Y94C probably damaging Het
Or2ag15 A G 7: 106,341,105 (GRCm39) F12S probably damaging Het
Or4c107 A G 2: 88,789,643 (GRCm39) T278A probably benign Het
Or51f1e A G 7: 102,747,371 (GRCm39) Y141C probably damaging Het
Or5an10 A T 19: 12,275,740 (GRCm39) V252D probably damaging Het
Parvb A T 15: 84,167,036 (GRCm39) Y117F probably benign Het
Plch2 A G 4: 155,127,484 (GRCm39) probably benign Het
Plxnb2 A T 15: 89,047,013 (GRCm39) C769* probably null Het
Plxnc1 G T 10: 94,779,529 (GRCm39) D304E probably benign Het
Prkg2 T C 5: 99,172,310 (GRCm39) D135G possibly damaging Het
Ptprb A G 10: 116,153,448 (GRCm39) D635G probably benign Het
Rapgef6 T G 11: 54,443,684 (GRCm39) V89G probably benign Het
Ror2 T A 13: 53,271,366 (GRCm39) T330S probably benign Het
Ros1 A G 10: 51,943,164 (GRCm39) V2050A possibly damaging Het
Serpinb6e T C 13: 34,021,733 (GRCm39) probably benign Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Smarca4 T C 9: 21,597,358 (GRCm39) V1371A possibly damaging Het
Syvn1 G A 19: 6,100,560 (GRCm39) R317H probably damaging Het
Tdo2 T A 3: 81,876,812 (GRCm39) D139V probably damaging Het
Tmem130 A G 5: 144,689,236 (GRCm39) V135A possibly damaging Het
Tpr A T 1: 150,317,870 (GRCm39) Q2126L probably benign Het
Txlnb A G 10: 17,706,062 (GRCm39) M324V possibly damaging Het
Ubxn10 A G 4: 138,448,574 (GRCm39) M34T possibly damaging Het
Vmn2r95 T C 17: 18,659,717 (GRCm39) W154R possibly damaging Het
Other mutations in Or5b112
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02442:Or5b112 APN 19 13,319,484 (GRCm39) missense probably benign 0.13
IGL02568:Or5b112 APN 19 13,319,583 (GRCm39) missense probably benign 0.08
IGL03073:Or5b112 APN 19 13,319,386 (GRCm39) missense probably benign 0.00
R0943:Or5b112 UTSW 19 13,319,157 (GRCm39) missense probably benign 0.00
R1301:Or5b112 UTSW 19 13,319,211 (GRCm39) missense probably benign 0.05
R1355:Or5b112 UTSW 19 13,319,882 (GRCm39) nonsense probably null
R1524:Or5b112 UTSW 19 13,319,486 (GRCm39) nonsense probably null
R1568:Or5b112 UTSW 19 13,319,539 (GRCm39) missense probably benign 0.14
R1993:Or5b112 UTSW 19 13,319,178 (GRCm39) missense possibly damaging 0.65
R3693:Or5b112 UTSW 19 13,319,893 (GRCm39) missense possibly damaging 0.73
R3694:Or5b112 UTSW 19 13,319,893 (GRCm39) missense possibly damaging 0.73
R3853:Or5b112 UTSW 19 13,319,862 (GRCm39) missense possibly damaging 0.55
R5313:Or5b112 UTSW 19 13,319,429 (GRCm39) missense probably benign 0.07
R5467:Or5b112 UTSW 19 13,319,521 (GRCm39) missense probably damaging 1.00
R6060:Or5b112 UTSW 19 13,319,497 (GRCm39) missense probably benign 0.08
R7125:Or5b112 UTSW 19 13,319,103 (GRCm39) critical splice acceptor site probably null
R7591:Or5b112 UTSW 19 13,319,619 (GRCm39) missense probably benign 0.28
R9072:Or5b112 UTSW 19 13,319,238 (GRCm39) missense possibly damaging 0.80
R9073:Or5b112 UTSW 19 13,319,238 (GRCm39) missense possibly damaging 0.80
R9523:Or5b112 UTSW 19 13,319,848 (GRCm39) missense probably damaging 0.99
Z1177:Or5b112 UTSW 19 13,319,619 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- TCATCATGGGCTGCTATGCTC -3'
(R):5'- AAGACAGACACAATTTTGTCCGTG -3'

Sequencing Primer
(F):5'- CTTGGGTTCTTAAATGCCTCAG -3'
(R):5'- CCGTGTCCATTGCATGTCTAGAG -3'
Posted On 2014-08-25