Incidental Mutation 'R8097:Or4c121'
ID 630220
Institutional Source Beutler Lab
Gene Symbol Or4c121
Ensembl Gene ENSMUSG00000075097
Gene Name olfactory receptor family 4 subfamily C member 121
Synonyms MOR233-2, Olfr1226, GA_x6K02T2Q125-50672630-50671698
MMRRC Submission 067529-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R8097 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 89023444-89024376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89023976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 134 (I134N)
Ref Sequence ENSEMBL: ENSMUSP00000149647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099790] [ENSMUST00000214709] [ENSMUST00000215562] [ENSMUST00000215987] [ENSMUST00000216445] [ENSMUST00000217601] [ENSMUST00000220416]
AlphaFold Q8VGM5
Predicted Effect probably damaging
Transcript: ENSMUST00000099790
AA Change: I134N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097378
Gene: ENSMUSG00000075097
AA Change: I134N

DomainStartEndE-ValueType
Pfam:7tm_4 29 302 6.5e-47 PFAM
Pfam:7tm_1 39 285 3.4e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214709
AA Change: I134N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215562
AA Change: I134N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215987
AA Change: I134N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216445
AA Change: I134N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217601
AA Change: I134N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000220416
AA Change: I134N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.6%
Validation Efficiency 100% (64/64)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,805,394 (GRCm39) M749I probably benign Het
Adcy8 A T 15: 64,743,711 (GRCm39) probably null Het
Adgrb2 G A 4: 129,901,690 (GRCm39) C438Y probably damaging Het
Amn1 G A 6: 149,070,853 (GRCm39) probably benign Het
Atxn2 C T 5: 121,887,286 (GRCm39) R319W probably damaging Het
Ccdc162 T C 10: 41,510,115 (GRCm39) E830G probably benign Het
Ccdc71 T C 9: 108,340,751 (GRCm39) V188A probably benign Het
Ceacam11 A T 7: 17,709,455 (GRCm39) R218* probably null Het
Col18a1 A C 10: 76,948,342 (GRCm39) L390R unknown Het
Cps1 A G 1: 67,267,429 (GRCm39) N1399S probably benign Het
Ctnnal1 T C 4: 56,847,845 (GRCm39) E98G probably damaging Het
Cyp1a2 T A 9: 57,586,836 (GRCm39) probably null Het
Cyp2d11 C A 15: 82,274,581 (GRCm39) probably null Het
Cyp2j7 G A 4: 96,103,647 (GRCm39) T296I possibly damaging Het
Dcc C T 18: 71,812,573 (GRCm39) G407D probably damaging Het
E330034G19Rik T C 14: 24,356,920 (GRCm39) L217S unknown Het
Eea1 A G 10: 95,862,516 (GRCm39) K813E probably benign Het
Ell3 TCTCCTC TCTC 2: 121,269,937 (GRCm39) probably benign Het
Etf1 T C 18: 35,064,697 (GRCm39) D4G probably benign Het
F830045P16Rik T C 2: 129,305,505 (GRCm39) T290A possibly damaging Het
Filip1 T C 9: 79,725,541 (GRCm39) D1026G probably benign Het
Flad1 A T 3: 89,316,442 (GRCm39) L40H probably damaging Het
Fpr3 C A 17: 18,191,054 (GRCm39) N108K probably damaging Het
Galntl6 A G 8: 58,415,407 (GRCm39) probably null Het
Hmgcll1 T C 9: 75,922,421 (GRCm39) L22P probably benign Het
Iars2 C T 1: 185,061,586 (GRCm39) probably benign Het
Ifna15 A T 4: 88,475,938 (GRCm39) L182Q probably benign Het
Kcna6 A T 6: 126,715,575 (GRCm39) V438E probably damaging Het
Kcnma1 T A 14: 23,381,032 (GRCm39) D1012V probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Lama2 G A 10: 27,066,660 (GRCm39) Q1074* probably null Het
Lhx9 T C 1: 138,766,089 (GRCm39) Y242C probably damaging Het
Lrrc37a T A 11: 103,394,925 (GRCm39) I167F probably benign Het
Lrrc49 T A 9: 60,522,331 (GRCm39) T351S probably benign Het
Lrrc56 A G 7: 140,775,819 (GRCm39) probably null Het
Mlh1 C A 9: 111,085,160 (GRCm39) probably null Het
Msh4 C T 3: 153,583,545 (GRCm39) probably null Het
Nav2 A G 7: 49,237,525 (GRCm39) D1999G probably damaging Het
Ncapd2 A T 6: 125,145,945 (GRCm39) I1272K possibly damaging Het
Neurl1a A G 19: 47,245,958 (GRCm39) D530G probably damaging Het
Nid2 T C 14: 19,848,657 (GRCm39) V1019A possibly damaging Het
Nlrp2 A T 7: 5,330,650 (GRCm39) L582Q probably damaging Het
Or1o4 A T 17: 37,590,818 (GRCm39) Y164* probably null Het
Or51a39 A G 7: 102,363,197 (GRCm39) V141A possibly damaging Het
Or8k1 A T 2: 86,048,010 (GRCm39) F15I probably damaging Het
Pde6c G T 19: 38,150,414 (GRCm39) E520* probably null Het
Pdzk1 C T 3: 96,757,556 (GRCm39) T4I probably benign Het
Pxdn C T 12: 30,056,601 (GRCm39) L1271F probably damaging Het
Rap1gap G T 4: 137,455,597 (GRCm39) V667F probably benign Het
Recql A T 6: 142,320,637 (GRCm39) I137N probably damaging Het
Ryr2 T C 13: 11,960,881 (GRCm39) E19G probably damaging Het
Ryr3 T C 2: 112,500,615 (GRCm39) probably null Het
Six1 A G 12: 73,090,524 (GRCm39) S214P possibly damaging Het
Slc24a1 T C 9: 64,831,734 (GRCm39) D1121G probably damaging Het
Slc30a6 T A 17: 74,719,693 (GRCm39) C218S possibly damaging Het
Spata31e1 T A 13: 49,943,676 (GRCm39) M1L probably benign Het
Stab2 T C 10: 86,704,959 (GRCm39) D1803G possibly damaging Het
Sult2a3 A T 7: 13,816,635 (GRCm39) V181E possibly damaging Het
Ubc C T 5: 125,466,982 (GRCm39) probably benign Het
Usp8 A G 2: 126,596,800 (GRCm39) N870S probably benign Het
Vmn1r225 A G 17: 20,722,611 (GRCm39) I17M possibly damaging Het
Vps13b T C 15: 35,709,492 (GRCm39) I1813T probably benign Het
Wdr11 C T 7: 129,209,611 (GRCm39) P473L probably damaging Het
Zcchc4 T A 5: 52,953,333 (GRCm39) I114N probably benign Het
Zfp516 C A 18: 83,005,295 (GRCm39) S733* probably null Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null 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
IGL02174:Or4c121 APN 2 89,023,712 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- TCAGTGCAGGCAAGCTTCAG -3'
(R):5'- ATCTATAGCCCTGCACTGCTG -3'

Sequencing Primer
(F):5'- TGCAGGCAAGCTTCAGTAATG -3'
(R):5'- GGGCTCCCCAATGTACTTC -3'
Posted On 2020-06-30