Incidental Mutation 'R8544:Or4c121'
ID 659504
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 068509-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R8544 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 89023444-89024376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89024312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 22 (E22G)
Ref Sequence ENSEMBL: ENSMUSP00000151855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099790] [ENSMUST00000214709] [ENSMUST00000215562] [ENSMUST00000215987] [ENSMUST00000216445] [ENSMUST00000217601] [ENSMUST00000220416]
AlphaFold Q8VGM5
Predicted Effect possibly damaging
Transcript: ENSMUST00000099790
AA Change: E22G

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097378
Gene: ENSMUSG00000075097
AA Change: E22G

DomainStartEndE-ValueType
Pfam:7tm_4 29 302 6.5e-47 PFAM
Pfam:7tm_1 39 285 3.4e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214709
AA Change: E22G

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215562
AA Change: E22G

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215987
AA Change: E22G

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216445
AA Change: E22G

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217601
AA Change: E22G

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000220416
AA Change: E22G

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 97% (74/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik C A 15: 37,425,979 (GRCm39) probably benign Het
Abcb5 A T 12: 118,832,461 (GRCm39) L1171H probably damaging Het
Ace A T 11: 105,862,116 (GRCm39) probably null Het
Adsl G T 15: 80,832,734 (GRCm39) probably benign Het
Cabin1 A G 10: 75,585,890 (GRCm39) M215T probably benign Het
Cabp2 A T 19: 4,134,892 (GRCm39) R77S probably damaging Het
Cast A T 13: 74,882,177 (GRCm39) H40Q possibly damaging Het
Ccar1 A T 10: 62,586,358 (GRCm39) Y946N unknown Het
Ccdc9b C T 2: 118,587,702 (GRCm39) R544K unknown Het
Chst14 A G 2: 118,758,010 (GRCm39) Y268C probably damaging Het
Dennd1a T C 2: 37,872,920 (GRCm39) probably null Het
Dnah1 A G 14: 30,990,861 (GRCm39) Y3153H probably damaging Het
Entpd8 T C 2: 24,973,856 (GRCm39) V271A probably benign Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Fam234b A G 6: 135,210,287 (GRCm39) Y561C probably damaging Het
Flg A G 3: 93,195,448 (GRCm39) probably benign Het
Galnt5 T A 2: 57,907,160 (GRCm39) M541K probably damaging Het
Gjd3 C A 11: 98,873,488 (GRCm39) E119* probably null Het
Gm266 T C 12: 111,451,799 (GRCm39) T136A possibly damaging Het
Gng11 G A 6: 4,008,045 (GRCm39) C36Y possibly damaging Het
Gse1 G A 8: 121,280,391 (GRCm39) V36I probably damaging Het
Hycc2 T C 1: 58,568,981 (GRCm39) T477A probably benign Het
Invs A T 4: 48,397,598 (GRCm39) H335L probably damaging Het
Kcnc2 A T 10: 112,292,101 (GRCm39) I28F probably damaging Het
Klhl40 C T 9: 121,607,892 (GRCm39) H351Y probably damaging Het
Kremen2 A G 17: 23,961,201 (GRCm39) L382P probably benign Het
Lenep A T 3: 89,309,784 (GRCm39) C55S possibly damaging Het
Lrp12 A T 15: 39,741,970 (GRCm39) Y248* probably null Het
Man2c1 A G 9: 57,038,325 (GRCm39) probably null Het
Map2k2 T C 10: 80,955,376 (GRCm39) M32T possibly damaging Het
Mnt A G 11: 74,722,218 (GRCm39) R22G probably damaging Het
Mroh1 G T 15: 76,327,558 (GRCm39) E1127* probably null Het
Mtmr4 A G 11: 87,502,735 (GRCm39) R930G possibly damaging Het
Nalcn A G 14: 123,608,935 (GRCm39) V644A probably benign Het
Ngf G T 3: 102,427,991 (GRCm39) V247F probably damaging Het
Ninj2 A G 6: 120,175,018 (GRCm39) Y63C probably damaging Het
Or51g2 A T 7: 102,622,938 (GRCm39) I87N probably damaging Het
Phf12 A C 11: 77,918,235 (GRCm39) I816L probably damaging Het
Pkhd1 C A 1: 20,593,199 (GRCm39) G1638V probably damaging Het
Plce1 T A 19: 38,512,903 (GRCm39) S67R probably benign Het
Plekhf1 A G 7: 37,920,768 (GRCm39) F267L probably damaging Het
Poc1b A T 10: 98,960,770 (GRCm39) K60* probably null Het
Ppic G A 18: 53,544,612 (GRCm39) T66M probably damaging Het
Prep G T 10: 45,029,223 (GRCm39) G541V probably damaging Het
Rasal3 C T 17: 32,611,093 (GRCm39) V947I probably benign Het
Rbl1 T C 2: 157,035,124 (GRCm39) R319G probably damaging Het
Rbm34 A G 8: 127,696,821 (GRCm39) S94P probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Sacm1l T C 9: 123,406,123 (GRCm39) probably null Het
Scaf8 T C 17: 3,213,295 (GRCm39) probably benign Het
Scrn1 T A 6: 54,499,841 (GRCm39) T215S probably benign Het
Sfrp4 A G 13: 19,816,336 (GRCm39) probably null Het
Slc37a3 T C 6: 39,321,297 (GRCm39) I406V possibly damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Sptbn1 C A 11: 30,169,750 (GRCm39) probably benign Het
St8sia5 T C 18: 77,342,114 (GRCm39) Y275H probably damaging Het
Stab1 A T 14: 30,885,008 (GRCm39) C137* probably null Het
Svep1 A G 4: 58,206,025 (GRCm39) S118P probably benign Het
Tbx6 A G 7: 126,380,656 (GRCm39) probably null Het
Tril C T 6: 53,796,295 (GRCm39) S309N possibly damaging Het
Trmt13 A G 3: 116,386,094 (GRCm39) probably null Het
Trpm1 T A 7: 63,874,356 (GRCm39) probably null Het
Tyr T C 7: 87,142,000 (GRCm39) T110A probably benign Het
Upf1 A C 8: 70,789,702 (GRCm39) F711C probably damaging Het
Usp5 A T 6: 124,800,480 (GRCm39) V267D probably damaging Het
Virma C A 4: 11,516,949 (GRCm39) D714E probably benign Het
Vmn2r115 A C 17: 23,564,773 (GRCm39) Q220P possibly damaging Het
Vmn2r40 T C 7: 8,911,191 (GRCm39) I701V Het
Vwde T A 6: 13,187,652 (GRCm39) M612L probably benign Het
Wwox A G 8: 115,215,646 (GRCm39) T140A probably benign Het
Zbtb17 CCCCCACCTCCACAGACCCCA CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA 4: 141,194,139 (GRCm39) probably benign Het
Zbtb9 T A 17: 27,193,448 (GRCm39) C284* probably null Het
Zdhhc12 C A 2: 29,983,486 (GRCm39) A39S probably benign Het
Zfp532 T A 18: 65,758,227 (GRCm39) I720K possibly damaging Het
Zfp595 G A 13: 67,465,244 (GRCm39) R340C probably 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
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
R8097:Or4c121 UTSW 2 89,023,976 (GRCm39) missense probably damaging 1.00
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'- GCAGCATTCAAAGGAGATGGTC -3'
(R):5'- TGCTCTTCTCTCACTCAAGTAGATG -3'

Sequencing Primer
(F):5'- AAGTCTACAATCATCTTGGGGGTGAC -3'
(R):5'- CTTCTCTCACTCAAGTAGATGTTTTC -3'
Posted On 2021-01-18