Incidental Mutation 'R5467:Or5b112'
ID 433306
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 043028-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R5467 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 13319124-13321692 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13319521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 133 (Y133F)
Ref Sequence ENSEMBL: ENSMUSP00000147188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075868] [ENSMUST00000207124]
AlphaFold Q8VFW4
Predicted Effect probably damaging
Transcript: ENSMUST00000075868
AA Change: Y133F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075265
Gene: ENSMUSG00000096485
AA Change: Y133F

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 damaging
Transcript: ENSMUST00000207124
AA Change: Y133F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 94.9%
  • 20x: 89.6%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,222,991 (GRCm39) M525T possibly damaging Het
Arpc5l T C 2: 38,903,751 (GRCm39) V80A possibly damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Bltp3b G T 10: 89,640,961 (GRCm39) G711W probably damaging Het
Celsr3 A T 9: 108,705,836 (GRCm39) D773V probably damaging Het
Clcn6 A T 4: 148,102,093 (GRCm39) H330Q possibly damaging Het
Cwc22 ATCTCTCTCTCTCTCTCT ATCTCTCTCTCTCTCT 2: 77,759,803 (GRCm39) probably null Het
Dmbt1 C A 7: 130,642,723 (GRCm39) S180R probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Elovl7 T C 13: 108,416,156 (GRCm39) V182A probably benign Het
Eml3 G A 19: 8,914,946 (GRCm39) W601* probably null Het
Farp1 C T 14: 121,472,489 (GRCm39) P208L probably damaging Het
Fras1 A T 5: 96,927,912 (GRCm39) Y3775F probably benign Het
Gns T C 10: 121,227,351 (GRCm39) W454R probably benign Het
Katnip T C 7: 125,442,527 (GRCm39) F812S possibly damaging Het
Kcnh2 A T 5: 24,531,765 (GRCm39) L40* probably null Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lrrc37 G T 11: 103,494,091 (GRCm39) C655* probably null Het
Mgl2 T A 11: 70,025,878 (GRCm39) I31N possibly damaging Het
Muc6 T C 7: 141,216,448 (GRCm39) T2677A possibly damaging Het
Ndst1 A G 18: 60,825,093 (GRCm39) S742P probably benign Het
Or10g6 G T 9: 39,933,733 (GRCm39) V15L probably benign Het
Or1o11 G T 17: 37,756,973 (GRCm39) C187F probably damaging Het
Or4d6 A C 19: 12,086,023 (GRCm39) S70A probably benign Het
Or8g21 T C 9: 38,906,200 (GRCm39) Y177C probably benign Het
Pcdhb22 A G 18: 37,653,188 (GRCm39) D552G probably benign Het
Pikfyve T A 1: 65,291,654 (GRCm39) V1291E probably damaging Het
Ppp4r3a T C 12: 101,009,729 (GRCm39) E636G probably damaging Het
Prl5a1 A T 13: 28,333,994 (GRCm39) I166L possibly damaging Het
Rb1 T C 14: 73,449,060 (GRCm39) D690G possibly damaging Het
Sh3tc2 A G 18: 62,123,759 (GRCm39) H840R possibly damaging Het
Skida1 T C 2: 18,050,923 (GRCm39) probably benign Het
Slc31a2 A G 4: 62,210,924 (GRCm39) H19R probably damaging Het
Styxl2 C A 1: 165,939,599 (GRCm39) probably null Het
Tnks2 A T 19: 36,859,176 (GRCm39) R314W probably damaging Het
Trak1 A G 9: 121,275,864 (GRCm39) D189G probably damaging Het
Trav13n-4 T A 14: 53,601,303 (GRCm39) V24E probably damaging Het
Ylpm1 T C 12: 85,043,633 (GRCm39) Y124H unknown Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L 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
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'- TGGACTCTCGGCTCCATATC -3'
(R):5'- AGAGAGCCATGATTGCTGG -3'

Sequencing Primer
(F):5'- GATGTTATTTACTCTTCAGCGGTCAC -3'
(R):5'- GAGCCATGATTGCTGGCATATCAC -3'
Posted On 2016-10-06