Incidental Mutation 'R6369:Olfr123'
ID 512875
Institutional Source Beutler Lab
Gene Symbol Olfr123
Ensembl Gene ENSMUSG00000045202
Gene Name olfactory receptor 123
Synonyms MOR256-9, GA_x6K02T2PSCP-2255106-2256035
MMRRC Submission 044519-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R6369 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 37793529-37798134 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 37795496 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 17 (D17E)
Ref Sequence ENSEMBL: ENSMUSP00000149802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054748] [ENSMUST00000214770] [ENSMUST00000215168] [ENSMUST00000216051] [ENSMUST00000216478]
AlphaFold Q8VFQ1
Predicted Effect probably benign
Transcript: ENSMUST00000054748
AA Change: D17E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000058678
Gene: ENSMUSG00000045202
AA Change: D17E

Pfam:7TM_GPCR_Srv 23 163 2.9e-6 PFAM
Pfam:7tm_4 29 306 2.3e-44 PFAM
Pfam:7TM_GPCR_Srsx 33 144 2.4e-5 PFAM
Pfam:7tm_1 39 288 1.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214770
AA Change: D17E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000215168
Predicted Effect probably benign
Transcript: ENSMUST00000216051
AA Change: D17E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000216478
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn C T 17: 13,835,343 (GRCm38) R571* probably null Het
Asb18 A T 1: 90,014,471 (GRCm38) I36N probably damaging Het
Ascc3 G A 10: 50,699,985 (GRCm38) G779S probably damaging Het
Atl2 T C 17: 79,854,555 (GRCm38) Q205R probably damaging Het
Axdnd1 A G 1: 156,392,745 (GRCm38) I235T probably damaging Het
Bri3bp A G 5: 125,454,701 (GRCm38) N237S probably damaging Het
Ccdc191 A G 16: 43,915,485 (GRCm38) N256S probably benign Het
Cchcr1 T C 17: 35,528,176 (GRCm38) I474T probably damaging Het
Cd209c T C 8: 3,944,984 (GRCm38) Y60C probably damaging Het
Cd300c C A 11: 114,957,555 (GRCm38) D171Y probably damaging Het
Crb1 C T 1: 139,237,462 (GRCm38) V975M probably damaging Het
Csmd1 C T 8: 17,535,004 (GRCm38) probably benign Het
Ctnna2 A G 6: 76,980,695 (GRCm38) S524P possibly damaging Het
Eno1 T C 4: 150,239,568 (GRCm38) probably null Het
Ero1l T C 14: 45,299,958 (GRCm38) I170M probably damaging Het
Fam186a A G 15: 99,947,331 (GRCm38) M344T unknown Het
Frem1 A T 4: 82,913,792 (GRCm38) probably null Het
Gjb5 G T 4: 127,355,930 (GRCm38) D140E possibly damaging Het
Gm11595 G A 11: 99,772,555 (GRCm38) R100C unknown Het
Hk2 G T 6: 82,736,753 (GRCm38) S449R probably damaging Het
Hs3st3a1 A T 11: 64,520,601 (GRCm38) I322F probably benign Het
Itga1 T C 13: 114,965,660 (GRCm38) I1145V probably damaging Het
Kcp A G 6: 29,484,694 (GRCm38) L1295S probably damaging Het
Macf1 T C 4: 123,410,562 (GRCm38) D49G possibly damaging Het
Mef2b T A 8: 70,165,559 (GRCm38) D96E probably benign Het
Megf10 A T 18: 57,261,187 (GRCm38) D461V probably benign Het
Myom1 T C 17: 71,101,076 (GRCm38) S1104P probably damaging Het
Nab1 A G 1: 52,490,222 (GRCm38) L172P probably damaging Het
Pate1 A G 9: 35,687,028 (GRCm38) V18A probably benign Het
Pink1 T C 4: 138,320,734 (GRCm38) probably null Het
Pnpla1 T A 17: 28,878,481 (GRCm38) I207N probably damaging Het
Ppp1r12b T C 1: 134,886,542 (GRCm38) E341G possibly damaging Het
Ppp1r21 C A 17: 88,582,412 (GRCm38) probably null Het
Rad52 A G 6: 119,914,207 (GRCm38) E76G unknown Het
Rad54l A G 4: 116,111,189 (GRCm38) probably null Het
Rasgrf2 T C 13: 92,131,446 (GRCm38) M17V probably benign Het
Rbm42 A G 7: 30,641,313 (GRCm38) M411T unknown Het
Reln A G 5: 22,051,361 (GRCm38) I495T probably benign Het
Rnf224 A G 2: 25,235,942 (GRCm38) F133S probably damaging Het
Rrm1 C A 7: 102,446,702 (GRCm38) H87Q probably damaging Het
Sec14l2 T C 11: 4,103,962 (GRCm38) D235G possibly damaging Het
Serpinb3d G T 1: 107,080,753 (GRCm38) N127K probably benign Het
Skint7 A T 4: 111,980,293 (GRCm38) E89D probably benign Het
Slc22a5 T G 11: 53,891,370 (GRCm38) N57T probably damaging Het
Smarcd3 A T 5: 24,594,984 (GRCm38) F263I probably damaging Het
Sncaip A G 18: 52,868,604 (GRCm38) I66V probably damaging Het
Syngr1 A C 15: 80,115,590 (GRCm38) probably benign Het
Tbc1d2 A G 4: 46,614,420 (GRCm38) Y554H probably benign Het
Tmem198 T C 1: 75,479,743 (GRCm38) V44A probably benign Het
Trappc11 T C 8: 47,512,285 (GRCm38) probably null Het
Uox C T 3: 146,624,577 (GRCm38) R163* probably null Het
Vmn2r111 C T 17: 22,548,602 (GRCm38) C638Y probably damaging Het
Washc4 A G 10: 83,574,444 (GRCm38) Y632C probably damaging Het
Zfp212 T C 6: 47,930,897 (GRCm38) V270A probably benign Het
Zfp92 G A X: 73,421,968 (GRCm38) R189H possibly damaging Homo
Other mutations in Olfr123
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01409:Olfr123 APN 17 37,795,522 (GRCm38) missense probably damaging 0.99
IGL03030:Olfr123 APN 17 37,796,271 (GRCm38) missense probably damaging 1.00
IGL03107:Olfr123 APN 17 37,795,788 (GRCm38) missense probably benign 0.01
R0329:Olfr123 UTSW 17 37,795,989 (GRCm38) missense probably benign 0.01
R0330:Olfr123 UTSW 17 37,795,989 (GRCm38) missense probably benign 0.01
R0524:Olfr123 UTSW 17 37,795,605 (GRCm38) nonsense probably null
R0581:Olfr123 UTSW 17 37,796,102 (GRCm38) missense probably damaging 1.00
R1288:Olfr123 UTSW 17 37,795,693 (GRCm38) missense probably damaging 0.98
R1897:Olfr123 UTSW 17 37,796,184 (GRCm38) missense probably benign 0.22
R3751:Olfr123 UTSW 17 37,796,232 (GRCm38) missense possibly damaging 0.95
R3753:Olfr123 UTSW 17 37,796,232 (GRCm38) missense possibly damaging 0.95
R3780:Olfr123 UTSW 17 37,796,004 (GRCm38) missense probably damaging 1.00
R3947:Olfr123 UTSW 17 37,796,115 (GRCm38) missense probably benign
R5925:Olfr123 UTSW 17 37,795,591 (GRCm38) missense probably benign 0.00
R5987:Olfr123 UTSW 17 37,796,357 (GRCm38) missense probably benign
R6891:Olfr123 UTSW 17 37,795,504 (GRCm38) missense probably benign
R7320:Olfr123 UTSW 17 37,796,357 (GRCm38) missense probably benign
R7997:Olfr123 UTSW 17 37,796,162 (GRCm38) nonsense probably null
R8153:Olfr123 UTSW 17 37,795,476 (GRCm38) missense probably benign 0.00
R8793:Olfr123 UTSW 17 37,796,364 (GRCm38) missense probably benign 0.21
R9348:Olfr123 UTSW 17 37,796,101 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-04-27