Incidental Mutation 'IGL02582:Or4c126'
ID 299372
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4c126
Ensembl Gene ENSMUSG00000061295
Gene Name olfactory receptor family 4 subfamily C member 126
Synonyms MOR234-3, Olfr1261, GA_x6K02T2Q125-51425355-51426275
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL02582
Quality Score
Status
Chromosome 2
Chromosomal Location 89823739-89824659 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 89824656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 306 (M306I)
Ref Sequence ENSEMBL: ENSMUSP00000150711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077785] [ENSMUST00000111509] [ENSMUST00000213909] [ENSMUST00000216953]
AlphaFold Q8VFB0
Predicted Effect probably benign
Transcript: ENSMUST00000077785
AA Change: M306I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000076959
Gene: ENSMUSG00000061295
AA Change: M306I

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 30 297 1.5e-6 PFAM
Pfam:7tm_1 36 282 4.5e-26 PFAM
Pfam:7tm_4 134 275 4.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111509
SMART Domains Protein: ENSMUSP00000107134
Gene: ENSMUSG00000061295

DomainStartEndE-ValueType
Pfam:7tm_4 25 299 1.8e-41 PFAM
Pfam:7TM_GPCR_Srsx 30 297 1.5e-6 PFAM
Pfam:7tm_1 36 282 4.5e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213909
AA Change: M306I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000216953
AA Change: M306I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T A 9: 53,506,045 (GRCm39) I92F probably benign Het
Actr3b A G 5: 26,037,411 (GRCm39) I208V probably benign Het
Car12 T C 9: 66,621,159 (GRCm39) V10A probably benign Het
Ccdc171 C A 4: 83,661,255 (GRCm39) R1122S probably damaging Het
Cep97 A G 16: 55,742,539 (GRCm39) V136A probably damaging Het
Cilp2 G T 8: 70,333,936 (GRCm39) Q1021K probably damaging Het
Col24a1 C A 3: 145,020,247 (GRCm39) T206N probably damaging Het
Crebbp A T 16: 3,902,141 (GRCm39) I2328K possibly damaging Het
Ctns A G 11: 73,087,478 (GRCm39) F16S probably benign Het
Dbf4 T C 5: 8,453,172 (GRCm39) K276E probably benign Het
Dnase2b T A 3: 146,294,840 (GRCm39) Q118L probably benign Het
Elf1 T C 14: 79,773,819 (GRCm39) L10P probably damaging Het
Exosc5 T C 7: 25,364,988 (GRCm39) probably null Het
Fam163b C T 2: 27,003,570 (GRCm39) C28Y probably damaging Het
Fam180a G T 6: 35,290,647 (GRCm39) A112E possibly damaging Het
Fam3b A T 16: 97,272,391 (GRCm39) Y89* probably null Het
Gcg C T 2: 62,308,922 (GRCm39) W77* probably null Het
Gm17472 G A 6: 42,957,832 (GRCm39) V34I possibly damaging Het
Klhl23 T A 2: 69,654,582 (GRCm39) C151S probably damaging Het
Mdh1b T A 1: 63,758,756 (GRCm39) I279F probably benign Het
Mfsd11 T A 11: 116,764,701 (GRCm39) I375N probably damaging Het
Mroh2b T A 15: 4,937,997 (GRCm39) I206N probably damaging Het
Myo1b T C 1: 51,821,133 (GRCm39) E456G possibly damaging Het
Nat8 G A 6: 85,807,783 (GRCm39) Q117* probably null Het
Nlrp4g A C 9: 124,349,764 (GRCm38) noncoding transcript Het
Nmt1 G T 11: 102,955,625 (GRCm39) G468C possibly damaging Het
Nobox G T 6: 43,281,973 (GRCm39) Q367K possibly damaging Het
Nusap1 A G 2: 119,479,470 (GRCm39) *428W probably null Het
Or12j4 T C 7: 140,046,560 (GRCm39) F149L probably benign Het
Pbp2 T C 6: 135,287,147 (GRCm39) I67V probably benign Het
Pcdhb8 T G 18: 37,488,427 (GRCm39) M35R possibly damaging Het
Pkp1 T C 1: 135,817,664 (GRCm39) E157G probably damaging Het
Pomgnt1 C T 4: 116,015,747 (GRCm39) L560F probably damaging Het
Prkcz T C 4: 155,355,713 (GRCm39) T227A probably damaging Het
Ptprd T A 4: 75,865,361 (GRCm39) R1446S probably damaging Het
Ptprq T C 10: 107,479,860 (GRCm39) T1137A probably benign Het
Sec22c T C 9: 121,514,630 (GRCm39) I153V probably benign Het
Slc30a5 C T 13: 100,949,155 (GRCm39) probably null Het
Smcr8 T C 11: 60,669,721 (GRCm39) S290P probably benign Het
Stambpl1 T G 19: 34,212,612 (GRCm39) L261V probably benign Het
Stk38l T C 6: 146,668,321 (GRCm39) probably null Het
Themis T C 10: 28,637,543 (GRCm39) F216L probably benign Het
Trmt1l T C 1: 151,309,536 (GRCm39) probably benign Het
Usp17lb C A 7: 104,489,937 (GRCm39) C330F probably damaging Het
Vmn2r120 A T 17: 57,831,724 (GRCm39) L355H probably damaging Het
Zc3h7b T A 15: 81,653,341 (GRCm39) C82S probably benign Het
Other mutations in Or4c126
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0140:Or4c126 UTSW 2 89,824,463 (GRCm39) missense probably damaging 1.00
R0220:Or4c126 UTSW 2 89,824,206 (GRCm39) missense probably benign 0.08
R0243:Or4c126 UTSW 2 89,824,150 (GRCm39) missense probably benign 0.01
R1644:Or4c126 UTSW 2 89,824,297 (GRCm39) missense possibly damaging 0.60
R1669:Or4c126 UTSW 2 89,824,144 (GRCm39) splice site probably null
R1916:Or4c126 UTSW 2 89,824,148 (GRCm39) missense probably benign
R3620:Or4c126 UTSW 2 89,824,196 (GRCm39) missense probably damaging 1.00
R4190:Or4c126 UTSW 2 89,823,918 (GRCm39) nonsense probably null
R5260:Or4c126 UTSW 2 89,824,526 (GRCm39) missense probably damaging 1.00
R5591:Or4c126 UTSW 2 89,823,751 (GRCm39) missense possibly damaging 0.95
R5907:Or4c126 UTSW 2 89,824,301 (GRCm39) missense probably benign 0.01
R5910:Or4c126 UTSW 2 89,823,782 (GRCm39) missense probably benign 0.29
R6044:Or4c126 UTSW 2 89,823,761 (GRCm39) missense possibly damaging 0.89
R6556:Or4c126 UTSW 2 89,824,517 (GRCm39) missense probably benign 0.39
R7083:Or4c126 UTSW 2 89,824,201 (GRCm39) missense probably benign
R7439:Or4c126 UTSW 2 89,824,183 (GRCm39) missense probably benign 0.00
R8439:Or4c126 UTSW 2 89,824,348 (GRCm39) missense probably benign 0.31
R8745:Or4c126 UTSW 2 89,824,076 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16