Incidental Mutation 'IGL02174:Or4c121'
ID 283007
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4c121
Ensembl Gene ENSMUSG00000075097
Gene Name olfactory receptor family 4 subfamily C member 121
Synonyms MOR233-2, Olfr1226, GA_x6K02T2Q125-50672630-50671698
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL02174
Quality Score
Status
Chromosome 2
Chromosomal Location 89023444-89024376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89023712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 222 (F222Y)
Ref Sequence ENSEMBL: ENSMUSP00000151855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099790] [ENSMUST00000214709] [ENSMUST00000215562] [ENSMUST00000215987] [ENSMUST00000216445] [ENSMUST00000217601] [ENSMUST00000220416]
AlphaFold Q8VGM5
Predicted Effect probably benign
Transcript: ENSMUST00000099790
AA Change: F222Y

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000097378
Gene: ENSMUSG00000075097
AA Change: F222Y

DomainStartEndE-ValueType
Pfam:7tm_4 29 302 6.5e-47 PFAM
Pfam:7tm_1 39 285 3.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214709
AA Change: F222Y

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000215562
AA Change: F222Y

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000215987
AA Change: F222Y

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000216445
AA Change: F222Y

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000217601
AA Change: F222Y

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000220416
AA Change: F222Y

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T C 14: 118,738,154 (GRCm39) I1199V probably damaging Het
Adgrv1 G A 13: 81,575,783 (GRCm39) T4861I probably benign Het
Ampd2 T C 3: 107,987,601 (GRCm39) D108G probably damaging Het
Azin1 A G 15: 38,493,730 (GRCm39) F298L probably benign Het
Bag1 T A 4: 40,941,555 (GRCm39) E123D possibly damaging Het
Cabs1 A G 5: 88,128,339 (GRCm39) E330G probably benign Het
Ccdc33 T C 9: 57,940,938 (GRCm39) K435E probably benign Het
Clip2 T G 5: 134,523,118 (GRCm39) K943T probably damaging Het
Cmya5 T C 13: 93,185,415 (GRCm39) I3527V possibly damaging Het
Cyp2w1 C T 5: 139,341,384 (GRCm39) R244C probably benign Het
Dcaf13 C A 15: 39,001,544 (GRCm39) A284E probably damaging Het
Ddx31 T A 2: 28,749,041 (GRCm39) L279Q probably damaging Het
Dgki A G 6: 37,009,856 (GRCm39) L497P probably damaging Het
Dnah12 A T 14: 26,428,072 (GRCm39) I233F probably benign Het
Dpp6 G T 5: 27,926,085 (GRCm39) G720* probably null Het
Emc1 T C 4: 139,098,979 (GRCm39) Y821H possibly damaging Het
Esr1 C T 10: 4,948,003 (GRCm39) R519W probably damaging Het
Gamt A T 10: 80,094,230 (GRCm39) V227E possibly damaging Het
Habp2 A G 19: 56,300,169 (GRCm39) Q206R probably damaging Het
Ihh A G 1: 74,990,105 (GRCm39) I90T probably damaging Het
Kif20b T C 19: 34,911,858 (GRCm39) probably benign Het
Lcp2 T C 11: 34,000,966 (GRCm39) probably benign Het
Lyrm2 A G 4: 32,800,649 (GRCm39) I29V probably benign Het
Macf1 T C 4: 123,385,587 (GRCm39) D1168G probably damaging Het
Mocos T C 18: 24,828,953 (GRCm39) S753P probably benign Het
Myo3a A G 2: 22,337,204 (GRCm39) E367G probably benign Het
Ndor1 G A 2: 25,139,206 (GRCm39) A255V possibly damaging Het
Nfat5 C T 8: 108,065,683 (GRCm39) P148S probably damaging Het
Or5al7 T A 2: 85,992,442 (GRCm39) M284L possibly damaging Het
Or6z7 T C 7: 6,483,438 (GRCm39) Y239C probably benign Het
Or8b41 A T 9: 38,055,081 (GRCm39) T217S possibly damaging Het
Pappa2 C T 1: 158,589,188 (GRCm39) C1679Y probably damaging Het
Pcdhb2 T A 18: 37,429,551 (GRCm39) I508N probably damaging Het
Pkd2l1 G A 19: 44,145,707 (GRCm39) T172I probably benign Het
Pld5 A G 1: 176,102,310 (GRCm39) V44A possibly damaging Het
Prss44 T C 9: 110,646,199 (GRCm39) W309R probably damaging Het
Rc3h2 A T 2: 37,301,237 (GRCm39) N88K probably benign Het
Rspry1 A G 8: 95,359,768 (GRCm39) I102M possibly damaging Het
Stab2 A G 10: 86,695,606 (GRCm39) probably null Het
Tbx3 C A 5: 119,813,649 (GRCm39) Y228* probably null Het
Tcf15 G T 2: 151,986,065 (GRCm39) probably benign Het
Tmem41b A G 7: 109,578,003 (GRCm39) S94P possibly damaging Het
Trmt10b A T 4: 45,308,508 (GRCm39) I223F possibly damaging Het
Tyrp1 G T 4: 80,763,063 (GRCm39) G317* probably null Het
Urod T A 4: 116,847,479 (GRCm39) probably benign Het
Vwf G T 6: 125,532,358 (GRCm39) R52L probably damaging Het
Wnk2 C A 13: 49,210,643 (GRCm39) Q232H probably damaging Het
Zbtb10 C A 3: 9,316,872 (GRCm39) P228Q probably damaging Het
Zfp764l1 G A 7: 126,991,525 (GRCm39) T154I possibly damaging Het
Other mutations in Or4c121
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00919:Or4c121 APN 2 89,023,848 (GRCm39) missense probably benign 0.00
IGL01073:Or4c121 APN 2 89,023,481 (GRCm39) missense possibly damaging 0.78
IGL01539:Or4c121 APN 2 89,023,836 (GRCm39) missense possibly damaging 0.81
IGL01549:Or4c121 APN 2 89,024,133 (GRCm39) missense probably benign 0.01
IGL02040:Or4c121 APN 2 89,023,907 (GRCm39) missense probably benign 0.16
IGL02322:Or4c121 APN 2 89,023,806 (GRCm39) missense probably damaging 0.99
IGL02881:Or4c121 APN 2 89,023,985 (GRCm39) missense probably damaging 1.00
IGL03336:Or4c121 APN 2 89,024,241 (GRCm39) missense probably benign 0.16
R1565:Or4c121 UTSW 2 89,024,227 (GRCm39) missense probably damaging 0.99
R3429:Or4c121 UTSW 2 89,023,617 (GRCm39) missense probably benign 0.04
R5668:Or4c121 UTSW 2 89,024,170 (GRCm39) missense possibly damaging 0.60
R6404:Or4c121 UTSW 2 89,023,906 (GRCm39) missense probably damaging 1.00
R6418:Or4c121 UTSW 2 89,023,823 (GRCm39) missense probably damaging 0.97
R7039:Or4c121 UTSW 2 89,023,790 (GRCm39) missense probably damaging 0.96
R7863:Or4c121 UTSW 2 89,024,295 (GRCm39) missense probably benign
R8097:Or4c121 UTSW 2 89,023,976 (GRCm39) missense probably damaging 1.00
R8544:Or4c121 UTSW 2 89,024,312 (GRCm39) missense possibly damaging 0.68
R8792:Or4c121 UTSW 2 89,024,231 (GRCm39) missense probably benign 0.00
R9291:Or4c121 UTSW 2 89,024,138 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16