Incidental Mutation 'R5811:Or2h2c'
ID 447534
Institutional Source Beutler Lab
Gene Symbol Or2h2c
Ensembl Gene ENSMUSG00000096477
Gene Name olfactory receptor family 2 subfamily H member 2C
Synonyms MOR256-29, Olfr92, GA_x6K02T2PSCP-1552066-1551128
MMRRC Submission 043213-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R5811 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 37421934-37422872 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 37422649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 75 (C75F)
Ref Sequence ENSEMBL: ENSMUSP00000150988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168659] [ENSMUST00000214994] [ENSMUST00000216341]
AlphaFold L7N475
Predicted Effect probably benign
Transcript: ENSMUST00000168659
AA Change: C75F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000128393
Gene: ENSMUSG00000096477
AA Change: C75F

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 23 304 5.1e-7 PFAM
Pfam:7tm_4 29 306 3.4e-50 PFAM
Pfam:7tm_1 39 288 1.1e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174626
Predicted Effect probably benign
Transcript: ENSMUST00000214994
AA Change: C75F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000216341
AA Change: C75F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
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
Btnl1 A T 17: 34,604,503 (GRCm39) K428M probably damaging Het
Chid1 G A 7: 141,110,166 (GRCm39) T53M probably damaging Het
Clnk A G 5: 38,870,490 (GRCm39) V356A probably damaging Het
Cryba4 C T 5: 112,398,937 (GRCm39) V36I probably benign Het
Dct A G 14: 118,250,600 (GRCm39) V466A probably benign Het
Dnmt3l A G 10: 77,887,929 (GRCm39) D146G possibly damaging Het
Epas1 A G 17: 87,131,203 (GRCm39) N328D probably damaging Het
Fat4 C T 3: 38,945,936 (GRCm39) R1610W probably damaging Het
Filip1l T C 16: 57,390,657 (GRCm39) V415A probably damaging Het
Garnl3 A G 2: 32,896,911 (GRCm39) L576P probably damaging Het
Gjd3 A T 11: 98,873,226 (GRCm39) V206E possibly damaging Het
Gpr135 A T 12: 72,116,641 (GRCm39) D375E possibly damaging Het
Gsdme T A 6: 50,222,925 (GRCm39) Q130L probably benign Het
Hcls1 A G 16: 36,777,702 (GRCm39) M274V probably null Het
Kcnn4 T C 7: 24,077,030 (GRCm39) V193A probably damaging Het
Kctd16 T C 18: 40,391,505 (GRCm39) V31A probably damaging Het
Lamc2 C T 1: 153,041,999 (GRCm39) R45Q possibly damaging Het
Lrrc66 T A 5: 73,772,860 (GRCm39) I203F possibly damaging Het
Mark4 T C 7: 19,182,564 (GRCm39) D91G probably damaging Het
Mcm6 A T 1: 128,263,465 (GRCm39) probably benign Het
Mecom C T 3: 30,015,149 (GRCm39) S602N probably benign Het
Muc5ac T C 7: 141,352,721 (GRCm39) V736A possibly damaging Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,850,701 (GRCm39) probably benign Het
Pdia5 A T 16: 35,269,790 (GRCm39) M173K possibly damaging Het
Pih1d2 T C 9: 50,532,374 (GRCm39) L144P probably damaging Het
Plch2 C T 4: 155,077,024 (GRCm39) E577K possibly damaging Het
Samd4b T C 7: 28,107,445 (GRCm39) S275G probably damaging Het
Sap130 T C 18: 31,822,495 (GRCm39) V668A probably benign Het
Sema3c T A 5: 17,880,188 (GRCm39) probably null Het
Slc9a8 C T 2: 167,313,307 (GRCm39) R390* probably null Het
Vmn2r89 A T 14: 51,693,565 (GRCm39) N305I probably benign Het
Wdr33 T C 18: 32,035,673 (GRCm39) F1164L unknown Het
Zfp873 T A 10: 81,896,567 (GRCm39) C470S probably damaging Het
Other mutations in Or2h2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01527:Or2h2c APN 17 37,422,701 (GRCm39) missense probably damaging 1.00
IGL02850:Or2h2c APN 17 37,422,865 (GRCm39) missense probably benign 0.35
IGL03209:Or2h2c APN 17 37,422,413 (GRCm39) missense probably benign 0.04
R0579:Or2h2c UTSW 17 37,422,347 (GRCm39) missense probably benign 0.00
R0580:Or2h2c UTSW 17 37,422,347 (GRCm39) missense probably benign 0.00
R0582:Or2h2c UTSW 17 37,422,347 (GRCm39) missense probably benign 0.00
R0615:Or2h2c UTSW 17 37,422,347 (GRCm39) missense probably benign 0.00
R0669:Or2h2c UTSW 17 37,422,347 (GRCm39) missense probably benign 0.00
R0674:Or2h2c UTSW 17 37,422,347 (GRCm39) missense probably benign 0.00
R0675:Or2h2c UTSW 17 37,422,347 (GRCm39) missense probably benign 0.00
R2424:Or2h2c UTSW 17 37,422,408 (GRCm39) missense probably benign 0.02
R3714:Or2h2c UTSW 17 37,422,227 (GRCm39) missense probably damaging 1.00
R4393:Or2h2c UTSW 17 37,424,971 (GRCm39) intron probably benign
R6615:Or2h2c UTSW 17 37,422,494 (GRCm39) missense probably damaging 1.00
R6853:Or2h2c UTSW 17 37,422,400 (GRCm39) missense probably benign 0.02
R6876:Or2h2c UTSW 17 37,422,098 (GRCm39) missense probably damaging 1.00
R7665:Or2h2c UTSW 17 37,422,283 (GRCm39) missense probably benign 0.20
R8087:Or2h2c UTSW 17 37,422,440 (GRCm39) missense probably benign
R9224:Or2h2c UTSW 17 37,422,767 (GRCm39) missense possibly damaging 0.53
R9439:Or2h2c UTSW 17 37,422,205 (GRCm39) missense probably damaging 1.00
R9541:Or2h2c UTSW 17 37,422,824 (GRCm39) missense probably benign 0.00
R9559:Or2h2c UTSW 17 37,422,509 (GRCm39) missense possibly damaging 0.84
Z1177:Or2h2c UTSW 17 37,422,322 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- CCAAGCTATACCTGCCAACTGG -3'
(R):5'- TGCTGGGCTTCTCTGACAAC -3'

Sequencing Primer
(F):5'- CCAACTGGCGACATAGGTG -3'
(R):5'- CCCACAACTGGAAAAGGTTCTG -3'
Posted On 2016-12-15