Incidental Mutation 'IGL03119:Or5b121'
ID 409895
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5b121
Ensembl Gene ENSMUSG00000095484
Gene Name olfactory receptor family 5 subfamily B member 121
Synonyms GA_x6K02T2RE5P-3862389-3863336, MOR202-44, Olfr1480
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL03119
Quality Score
Status
Chromosome 19
Chromosomal Location 13507039-13507986 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13507799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 298 (I298T)
Ref Sequence ENSEMBL: ENSMUSP00000146931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072219] [ENSMUST00000207093] [ENSMUST00000207904] [ENSMUST00000207987]
AlphaFold A0A140LIR8
Predicted Effect probably benign
Transcript: ENSMUST00000072219
AA Change: I254T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000072076
Gene: ENSMUSG00000095484
AA Change: I254T

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 8.2e-54 PFAM
Pfam:7TM_GPCR_Srsx 34 304 1.6e-6 PFAM
Pfam:7tm_1 40 289 4.5e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207093
AA Change: I254T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207312
Predicted Effect probably benign
Transcript: ENSMUST00000207904
AA Change: I254T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000207987
AA Change: I298T

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216709
Coding Region Coverage
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,764,887 (GRCm39) T626A probably benign Het
Adcy1 C T 11: 7,059,051 (GRCm39) T319I probably damaging Het
Adgrv1 A G 13: 81,530,492 (GRCm39) S5861P probably damaging Het
Adgrv1 A C 13: 81,581,819 (GRCm39) C4742G probably benign Het
Arid5b A T 10: 68,079,057 (GRCm39) D93E probably damaging Het
Atp6v1h A G 1: 5,165,892 (GRCm39) T121A probably benign Het
Atxn7 C T 14: 14,100,734 (GRCm38) L807F probably damaging Het
Cep104 A C 4: 154,066,181 (GRCm39) K126N probably damaging Het
Dcaf6 T C 1: 165,167,545 (GRCm39) E708G probably damaging Het
Dst A G 1: 34,200,143 (GRCm39) Y107C probably damaging Het
E2f3 A G 13: 30,169,348 (GRCm39) S102P probably benign Het
Eif3e A C 15: 43,129,000 (GRCm39) S207A probably benign Het
Etl4 A G 2: 20,718,198 (GRCm39) Y313C probably damaging Het
Fyttd1 T C 16: 32,721,065 (GRCm39) V121A probably benign Het
Gstk1 T C 6: 42,226,833 (GRCm39) S200P probably damaging Het
Ifrd1 A T 12: 40,262,333 (GRCm39) F244L probably null Het
Ints7 T C 1: 191,342,477 (GRCm39) V491A probably damaging Het
Kcnd2 G T 6: 21,216,508 (GRCm39) E71* probably null Het
Ltbp3 A T 19: 5,807,471 (GRCm39) Q1123L probably damaging Het
Myo5a A G 9: 75,081,297 (GRCm39) T961A probably benign Het
Naa25 T A 5: 121,573,041 (GRCm39) V720E probably null Het
Or52ab4 A G 7: 102,987,929 (GRCm39) I223V probably damaging Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Peli1 T C 11: 21,090,560 (GRCm39) probably benign Het
Ptbp1 T C 10: 79,695,458 (GRCm39) V209A probably damaging Het
Ranbp2 A G 10: 58,287,825 (GRCm39) Y31C probably damaging Het
Smg1 G A 7: 117,794,336 (GRCm39) probably benign Het
Stat2 A G 10: 128,119,386 (GRCm39) M457V probably benign Het
Trpm6 G T 19: 18,815,381 (GRCm39) E1156* probably null Het
Usp53 T A 3: 122,755,064 (GRCm39) R130S possibly damaging Het
Vwa5b1 A G 4: 138,333,852 (GRCm39) S193P probably benign Het
Xrn2 A G 2: 146,884,792 (GRCm39) I626V probably damaging Het
Zfp574 G A 7: 24,779,898 (GRCm39) A307T probably benign Het
Other mutations in Or5b121
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Or5b121 APN 19 13,507,214 (GRCm39) missense probably damaging 1.00
IGL01446:Or5b121 APN 19 13,507,616 (GRCm39) missense probably benign 0.00
IGL02300:Or5b121 APN 19 13,507,244 (GRCm39) missense probably damaging 1.00
IGL02689:Or5b121 APN 19 13,507,171 (GRCm39) missense probably benign 0.34
R0636:Or5b121 UTSW 19 13,507,613 (GRCm39) missense possibly damaging 0.89
R1665:Or5b121 UTSW 19 13,507,202 (GRCm39) missense probably damaging 1.00
R1708:Or5b121 UTSW 19 13,507,277 (GRCm39) missense probably damaging 1.00
R2100:Or5b121 UTSW 19 13,507,798 (GRCm39) missense probably benign 0.02
R2137:Or5b121 UTSW 19 13,507,802 (GRCm39) missense probably damaging 0.98
R3879:Or5b121 UTSW 19 13,507,613 (GRCm39) missense probably damaging 1.00
R3949:Or5b121 UTSW 19 13,507,384 (GRCm39) missense probably damaging 0.99
R4780:Or5b121 UTSW 19 13,507,319 (GRCm39) missense probably benign 0.30
R4953:Or5b121 UTSW 19 13,507,178 (GRCm39) missense probably null 1.00
R5075:Or5b121 UTSW 19 13,507,637 (GRCm39) missense probably benign 0.17
R5133:Or5b121 UTSW 19 13,507,442 (GRCm39) missense probably damaging 1.00
R5656:Or5b121 UTSW 19 13,507,744 (GRCm39) missense probably benign
R6853:Or5b121 UTSW 19 13,507,295 (GRCm39) missense possibly damaging 0.48
R6890:Or5b121 UTSW 19 13,507,445 (GRCm39) missense probably damaging 1.00
R7481:Or5b121 UTSW 19 13,507,817 (GRCm39) missense probably damaging 1.00
R7663:Or5b121 UTSW 19 13,507,809 (GRCm39) missense probably damaging 0.96
R8869:Or5b121 UTSW 19 13,507,892 (GRCm39) missense probably damaging 1.00
R9425:Or5b121 UTSW 19 13,507,222 (GRCm39) missense probably damaging 1.00
R9531:Or5b121 UTSW 19 13,507,936 (GRCm39) missense probably benign 0.01
R9571:Or5b121 UTSW 19 13,507,697 (GRCm39) missense probably damaging 1.00
Z1088:Or5b121 UTSW 19 13,507,216 (GRCm39) missense possibly damaging 0.64
Z1177:Or5b121 UTSW 19 13,507,579 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02