Incidental Mutation 'R1852:Or5b123'
ID 208277
Institutional Source Beutler Lab
Gene Symbol Or5b123
Ensembl Gene ENSMUSG00000094846
Gene Name olfactory receptor family 5 subfamily B member 123
Synonyms Olfr1487, MOR202-18, GA_x6K02T2RE5P-3951719-3952666
MMRRC Submission 039876-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R1852 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 13596528-13597475 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 13596967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 147 (S147F)
Ref Sequence ENSEMBL: ENSMUSP00000149988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076856] [ENSMUST00000208347] [ENSMUST00000209005] [ENSMUST00000216688] [ENSMUST00000217061]
AlphaFold Q8VFQ6
Predicted Effect probably damaging
Transcript: ENSMUST00000076856
AA Change: S147F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076128
Gene: ENSMUSG00000094846
AA Change: S147F

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 4.8e-55 PFAM
Pfam:7TM_GPCR_Srsx 34 304 1e-6 PFAM
Pfam:7tm_1 40 289 9.5e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208347
AA Change: S104F

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect possibly damaging
Transcript: ENSMUST00000209005
AA Change: S104F

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216688
AA Change: S104F

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000217061
AA Change: S147F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik A G 7: 12,246,629 (GRCm39) probably null Het
4930433I11Rik T A 7: 40,643,037 (GRCm39) D326E probably benign Het
Abca8a T C 11: 109,960,212 (GRCm39) D676G probably damaging Het
Abcb7 T C X: 103,349,005 (GRCm39) M153V probably benign Het
Ablim3 G A 18: 61,982,466 (GRCm39) H160Y probably benign Het
Acsl6 T C 11: 54,251,902 (GRCm39) I683T probably damaging Het
Adgrg5 A T 8: 95,664,428 (GRCm39) Y345F probably damaging Het
Alg6 T G 4: 99,634,599 (GRCm39) F114V probably benign Het
Ank2 A C 3: 126,791,500 (GRCm39) probably null Het
Ankrd24 A T 10: 81,478,775 (GRCm39) probably benign Het
Ano8 T C 8: 71,936,131 (GRCm39) K222E probably damaging Het
Arhgef5 T C 6: 43,252,119 (GRCm39) S957P probably benign Het
Bltp2 A G 11: 78,159,299 (GRCm39) D499G probably damaging Het
Bmpr1b A T 3: 141,563,163 (GRCm39) probably null Het
C3 A G 17: 57,529,823 (GRCm39) V2A probably damaging Het
Capn1 A G 19: 6,059,133 (GRCm39) V276A possibly damaging Het
Ccdc57 T C 11: 120,812,499 (GRCm39) E85G probably damaging Het
Chil3 C T 3: 106,056,117 (GRCm39) probably null Het
Chl1 A T 6: 103,676,120 (GRCm39) probably null Het
Chodl C T 16: 78,738,146 (GRCm39) P38L probably benign Het
Clec4a2 G T 6: 123,116,084 (GRCm39) E124* probably null Het
Cmtr1 T C 17: 29,921,229 (GRCm39) V825A probably benign Het
Cnksr3 T C 10: 7,070,539 (GRCm39) I232V probably benign Het
Cntn1 C T 15: 92,203,021 (GRCm39) R768C probably damaging Het
Col15a1 G T 4: 47,299,278 (GRCm39) probably null Het
Col6a3 T A 1: 90,735,256 (GRCm39) I798F possibly damaging Het
Cpxcr1 T A X: 115,387,758 (GRCm39) L223* probably null Het
Cul1 A G 6: 47,497,764 (GRCm39) N615S probably damaging Het
Cxcr2 A G 1: 74,198,438 (GRCm39) I311V probably benign Het
Cyp2c67 C T 19: 39,605,811 (GRCm39) G362S probably benign Het
D930048N14Rik T A 11: 51,544,692 (GRCm39) probably benign Het
Ddx49 T C 8: 70,753,633 (GRCm39) T79A probably damaging Het
Defb46 T A 8: 19,289,991 (GRCm39) probably null Het
Dnah17 T A 11: 118,012,742 (GRCm39) I145F probably damaging Het
Dock8 A T 19: 25,104,492 (GRCm39) I725F probably benign Het
Dppa4 G A 16: 48,108,247 (GRCm39) A11T probably damaging Het
Enam T A 5: 88,652,324 (GRCm39) S1278T possibly damaging Het
Fndc3a A G 14: 72,794,283 (GRCm39) V829A probably damaging Het
Gatb T G 3: 85,526,184 (GRCm39) L354R probably damaging Het
Gm10787 A T 10: 76,857,711 (GRCm39) noncoding transcript Het
Gsap T A 5: 21,495,543 (GRCm39) probably null Het
Gtf2ird1 T C 5: 134,411,434 (GRCm39) probably null Het
Has3 A T 8: 107,600,711 (GRCm39) I58F probably damaging Het
Haus5 A T 7: 30,357,926 (GRCm39) probably null Het
Hip1r T C 5: 124,129,568 (GRCm39) V169A probably benign Het
Hnf1a T A 5: 115,108,770 (GRCm39) D45V probably damaging Het
Il20ra T A 10: 19,618,767 (GRCm39) Y72N probably damaging Het
Ipo11 A T 13: 106,948,765 (GRCm39) V914E possibly damaging Het
Itpr1 T C 6: 108,363,667 (GRCm39) L763P probably damaging Het
Katnal2 C A 18: 77,103,719 (GRCm39) R104L probably benign Het
Kcng4 G T 8: 120,352,947 (GRCm39) P321Q probably benign Het
Larp4b T C 13: 9,187,339 (GRCm39) probably null Het
Lars1 T C 18: 42,345,673 (GRCm39) N1001S probably benign Het
Lhcgr T A 17: 89,072,604 (GRCm39) I148F probably damaging Het
Lsm10 T A 4: 125,991,756 (GRCm39) S37R possibly damaging Het
Mfsd13a A G 19: 46,360,619 (GRCm39) probably null Het
Mipep T A 14: 61,080,689 (GRCm39) C560* probably null Het
Mme G A 3: 63,235,467 (GRCm39) D172N probably benign Het
Mme A G 3: 63,235,404 (GRCm39) S97G probably benign Het
Mtrex A T 13: 113,009,461 (GRCm39) H979Q probably benign Het
Mx1 A T 16: 97,249,403 (GRCm39) L608Q probably damaging Het
Myt1l T C 12: 29,901,660 (GRCm39) M208T probably benign Het
Neb T C 2: 52,118,554 (GRCm39) I3987V probably damaging Het
Nelfcd A G 2: 174,265,771 (GRCm39) probably null Het
Neto1 T C 18: 86,414,009 (GRCm39) M1T probably null Het
Nom1 T C 5: 29,651,876 (GRCm39) F738S possibly damaging Het
Or10v1 C A 19: 11,874,249 (GRCm39) P288H probably damaging Het
Or4f61 C A 2: 111,922,192 (GRCm39) V285L probably benign Het
Or51h5 C T 7: 102,577,648 (GRCm39) S271L probably damaging Het
Or5w14 T C 2: 87,541,317 (GRCm39) probably null Het
Or6c203 T C 10: 129,010,197 (GRCm39) K231R probably benign Het
Or6f2 T A 7: 139,756,474 (GRCm39) L147* probably null Het
Or9m1b T G 2: 87,836,865 (GRCm39) I86L probably damaging Het
Pak1ip1 A G 13: 41,164,708 (GRCm39) T264A possibly damaging Het
Palb2 G T 7: 121,713,537 (GRCm39) D915E possibly damaging Het
Pank4 T C 4: 155,060,816 (GRCm39) L491P probably damaging Het
Paqr7 T C 4: 134,234,980 (GRCm39) V279A probably benign Het
Pcif1 G A 2: 164,730,386 (GRCm39) R373Q probably damaging Het
Pdgfa T A 5: 138,964,927 (GRCm39) N185I probably benign Het
Plcd4 T C 1: 74,588,520 (GRCm39) V123A possibly damaging Het
Pramel26 T C 4: 143,539,396 (GRCm39) I32M probably benign Het
Prune2 A G 19: 17,176,503 (GRCm39) I154V probably damaging Het
Rac3 T G 11: 120,614,320 (GRCm39) L148R possibly damaging Het
Rapgef6 T A 11: 54,533,637 (GRCm39) D362E probably benign Het
Rbl1 A G 2: 157,016,823 (GRCm39) I592T probably benign Het
Rbl2 A C 8: 91,822,191 (GRCm39) D408A possibly damaging Het
Retreg2 A G 1: 75,123,319 (GRCm39) K416E probably benign Het
Rorb A T 19: 18,939,447 (GRCm39) L234H probably damaging Het
Rpp40 T G 13: 36,080,897 (GRCm39) D279A probably benign Het
Siglec1 C A 2: 130,923,420 (GRCm39) V442L probably damaging Het
Sik3 C G 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Slc25a34 G A 4: 141,349,579 (GRCm39) T192I probably benign Het
Sp140l1 G A 1: 85,062,852 (GRCm39) probably benign Het
Sptbn5 T C 2: 119,902,125 (GRCm39) I126M possibly damaging Het
Strada A G 11: 106,062,047 (GRCm39) V94A possibly damaging Het
Stxbp5 C A 10: 9,688,042 (GRCm39) V420F possibly damaging Het
Tgm1 T C 14: 55,942,398 (GRCm39) Y651C probably damaging Het
Tmem200c T A 17: 69,147,612 (GRCm39) V65E probably damaging Het
Tmem74 A T 15: 43,730,559 (GRCm39) D161E probably benign Het
Trgc3 A T 13: 19,445,261 (GRCm39) M70L probably damaging Het
Vcan T G 13: 89,853,511 (GRCm39) E483A probably damaging Het
Vmn2r124 A G 17: 18,283,436 (GRCm39) T377A probably benign Het
Vmn2r3 A C 3: 64,166,815 (GRCm39) I772S probably damaging Het
Wdfy3 A G 5: 102,063,242 (GRCm39) V1342A probably benign Het
Zfp507 T C 7: 35,487,176 (GRCm39) H764R probably damaging Het
Znrf3 A G 11: 5,237,455 (GRCm39) I218T possibly damaging Het
Other mutations in Or5b123
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Or5b123 APN 19 13,597,110 (GRCm39) missense probably damaging 1.00
R0281:Or5b123 UTSW 19 13,596,849 (GRCm39) missense probably benign 0.00
R0847:Or5b123 UTSW 19 13,596,915 (GRCm39) missense probably benign 0.10
R2026:Or5b123 UTSW 19 13,596,945 (GRCm39) missense probably damaging 1.00
R2877:Or5b123 UTSW 19 13,596,996 (GRCm39) missense probably damaging 0.97
R3965:Or5b123 UTSW 19 13,596,565 (GRCm39) missense probably damaging 1.00
R4935:Or5b123 UTSW 19 13,597,066 (GRCm39) missense probably benign 0.11
R5148:Or5b123 UTSW 19 13,596,874 (GRCm39) nonsense probably null
R5210:Or5b123 UTSW 19 13,596,763 (GRCm39) missense probably damaging 1.00
R5427:Or5b123 UTSW 19 13,596,714 (GRCm39) missense probably benign 0.31
R5940:Or5b123 UTSW 19 13,596,517 (GRCm39) splice site probably null
R6110:Or5b123 UTSW 19 13,597,249 (GRCm39) missense probably benign 0.03
R6125:Or5b123 UTSW 19 13,597,249 (GRCm39) missense probably benign 0.03
R6294:Or5b123 UTSW 19 13,596,730 (GRCm39) missense probably benign 0.08
R7051:Or5b123 UTSW 19 13,596,769 (GRCm39) missense possibly damaging 0.94
R7052:Or5b123 UTSW 19 13,596,990 (GRCm39) missense probably benign 0.13
R7324:Or5b123 UTSW 19 13,596,942 (GRCm39) missense probably benign
R7655:Or5b123 UTSW 19 13,597,197 (GRCm39) missense probably damaging 0.99
R7656:Or5b123 UTSW 19 13,597,197 (GRCm39) missense probably damaging 0.99
R7807:Or5b123 UTSW 19 13,597,285 (GRCm39) missense probably damaging 0.99
R7876:Or5b123 UTSW 19 13,596,628 (GRCm39) missense probably damaging 1.00
R8118:Or5b123 UTSW 19 13,597,109 (GRCm39) missense probably damaging 1.00
R8370:Or5b123 UTSW 19 13,596,661 (GRCm39) missense probably damaging 1.00
R9138:Or5b123 UTSW 19 13,596,658 (GRCm39) missense probably damaging 0.97
R9644:Or5b123 UTSW 19 13,597,344 (GRCm39) missense probably benign 0.41
R9664:Or5b123 UTSW 19 13,597,365 (GRCm39) missense probably benign 0.00
Z1176:Or5b123 UTSW 19 13,597,026 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGACTGTGTTTATGCCTCAGC -3'
(R):5'- TGAATGCTGCCAACATAAAGAG -3'

Sequencing Primer
(F):5'- CTGTCACTCCCAAGGTGATGGAAG -3'
(R):5'- GCTGCCAACATAAAGAGTATAATTTC -3'
Posted On 2014-06-23