Incidental Mutation 'R7591:Or5b112'
ID 587428
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 045638-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R7591 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 13319124-13321692 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13319619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 166 (S166G)
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: S166G

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000075265
Gene: ENSMUSG00000096485
AA Change: S166G

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: S166G

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (45/45)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccne2 T C 4: 11,201,393 (GRCm39) I307T probably benign Het
Chrm3 A T 13: 9,927,349 (GRCm39) C562* probably null Het
Cldn11 A T 3: 31,204,436 (GRCm39) E46D probably benign Het
Cyp4a14 A G 4: 115,347,157 (GRCm39) probably null Het
Dbh A G 2: 27,060,522 (GRCm39) T233A probably damaging Het
Dennd2c T A 3: 103,040,661 (GRCm39) Y309N possibly damaging Het
Dnttip2 T A 3: 122,070,117 (GRCm39) L444* probably null Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Epop A T 11: 97,519,158 (GRCm39) V317E probably damaging Het
Eppk1 T C 15: 75,991,797 (GRCm39) T1695A possibly damaging Het
Fam149a T A 8: 45,803,472 (GRCm39) I421F possibly damaging Het
Impa2 T C 18: 67,451,480 (GRCm39) L258P probably damaging Het
Itga1 G A 13: 115,119,315 (GRCm39) R855W probably damaging Het
Kcnh5 T C 12: 75,054,541 (GRCm39) T468A probably benign Het
Kif11 A G 19: 37,372,711 (GRCm39) K33R probably damaging Het
Lamb1 C A 12: 31,376,647 (GRCm39) A1657E probably damaging Het
Macc1 T C 12: 119,410,393 (GRCm39) V387A probably damaging Het
Nalcn T C 14: 123,561,297 (GRCm39) T734A probably benign Het
Nphp3 T C 9: 103,895,477 (GRCm39) probably null Het
Nutm2 A G 13: 50,627,903 (GRCm39) I461M probably damaging Het
Or14p1 T C 13: 65,292,462 (GRCm39) F130L probably benign Het
Or4p7 G A 2: 88,222,220 (GRCm39) V210M probably benign Het
Or4s2 A C 2: 88,473,811 (GRCm39) K233N probably damaging Het
Pigo T C 4: 43,025,093 (GRCm39) N2S probably benign Het
Plcl1 A T 1: 55,736,608 (GRCm39) I650L probably benign Het
Ppcdc A T 9: 57,342,262 (GRCm39) V20D probably damaging Het
Pramel27 A T 4: 143,577,481 (GRCm39) I88L probably benign Het
Rhobtb2 A G 14: 70,037,190 (GRCm39) V78A possibly damaging Het
Rp1l1 T C 14: 64,263,558 (GRCm39) V226A probably damaging Het
Scrt1 C A 15: 76,403,694 (GRCm39) G99C probably damaging Het
Skint9 A T 4: 112,248,147 (GRCm39) I199N probably damaging Het
Slc5a4a T C 10: 75,983,501 (GRCm39) probably benign Het
Smad3 C T 9: 63,561,999 (GRCm39) W326* probably null Het
Spata18 A T 5: 73,829,759 (GRCm39) I305F Het
Spata31h1 C A 10: 82,128,046 (GRCm39) V1655F probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Syne3 A G 12: 104,906,863 (GRCm39) probably null Het
Trim69 G A 2: 121,998,454 (GRCm39) R142Q probably benign Het
Vmn1r40 A T 6: 89,691,755 (GRCm39) I191F probably benign Het
Vmn2r16 T A 5: 109,510,223 (GRCm39) D535E probably damaging Het
Vwa5b2 A G 16: 20,420,317 (GRCm39) E742G probably damaging Het
Zfp442 A T 2: 150,250,092 (GRCm39) Y603* probably null Het
Zp1 T C 19: 10,896,835 (GRCm39) N68S probably 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
R2031:Or5b112 UTSW 19 13,319,770 (GRCm39) missense probably benign 0.18
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
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'- GAGTGTGCAGCTCAGATGTTC -3'
(R):5'- TGAACTCCTGCTTCTGAGTGC -3'

Sequencing Primer
(F):5'- TGCAGCAGTGTGTAAACC -3'
(R):5'- CTGCTTCTGAGTGCATCTTTAAG -3'
Posted On 2019-10-24