Incidental Mutation 'R9559:Or2h2c'
ID 720936
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R9559 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 37421934-37422872 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37422509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 122 (V122M)
Ref Sequence ENSEMBL: ENSMUSP00000150998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168659] [ENSMUST00000214994] [ENSMUST00000216341]
AlphaFold L7N475
Predicted Effect possibly damaging
Transcript: ENSMUST00000168659
AA Change: V122M

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128393
Gene: ENSMUSG00000096477
AA Change: V122M

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 possibly damaging
Transcript: ENSMUST00000214994
AA Change: V122M

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216341
AA Change: V122M

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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
Abca16 G A 7: 120,021,019 (GRCm39) probably null Het
Ahnak2 C T 12: 112,749,782 (GRCm39) probably null Het
Arhgef37 A T 18: 61,640,267 (GRCm39) probably null Het
Asb14 T C 14: 26,637,052 (GRCm39) V598A possibly damaging Het
Baz1b T A 5: 135,216,532 (GRCm39) F10Y probably benign Het
Bbc3 T C 7: 16,047,660 (GRCm39) V128A probably benign Het
C130073F10Rik T A 4: 101,747,946 (GRCm39) Y76F possibly damaging Het
Cdc42bpa G A 1: 179,939,459 (GRCm39) probably null Het
Cfh G T 1: 140,030,275 (GRCm39) P884Q probably benign Het
Cltc T C 11: 86,613,086 (GRCm39) Y479C probably damaging Het
Col18a1 C T 10: 76,913,630 (GRCm39) G477E probably damaging Het
Col7a1 A G 9: 108,786,360 (GRCm39) N530S unknown Het
Csmd2 G T 4: 128,438,561 (GRCm39) G3047C Het
Cyb5r3 C A 15: 83,043,123 (GRCm39) E190* probably null Het
Dnah3 A T 7: 119,650,951 (GRCm39) V983D probably benign Het
Fcer1a T G 1: 173,052,884 (GRCm39) Y104S possibly damaging Het
Fer1l6 A G 15: 58,429,759 (GRCm39) T169A possibly damaging Het
Gimap9 A T 6: 48,655,134 (GRCm39) K240N probably benign Het
Gmeb1 A C 4: 131,953,140 (GRCm39) V542G probably benign Het
Grb10 C A 11: 11,895,535 (GRCm39) R318L probably damaging Het
Gucy1b1 T A 3: 81,947,054 (GRCm39) D385V possibly damaging Het
Hdgfl1 C T 13: 26,953,239 (GRCm39) G278E probably damaging Het
Il18r1 T A 1: 40,528,793 (GRCm39) I279K probably benign Het
Il21r A G 7: 125,232,027 (GRCm39) D485G probably damaging Het
Jarid2 C T 13: 45,068,253 (GRCm39) R1092W possibly damaging Het
Kdm4b T C 17: 56,693,228 (GRCm39) L355P probably damaging Het
Kif26a C T 12: 112,142,004 (GRCm39) R753W probably damaging Het
Krtcap2 C T 3: 89,154,178 (GRCm39) T33I probably damaging Het
Mettl17 G A 14: 52,129,009 (GRCm39) probably null Het
Mov10 A G 3: 104,708,277 (GRCm39) F491L Het
Mterf1a C T 5: 3,941,807 (GRCm39) W20* probably null Het
Nck2 T C 1: 43,593,207 (GRCm39) V138A probably damaging Het
Or5ac24 C A 16: 59,165,368 (GRCm39) G232V probably damaging Het
Or5ak24 A C 2: 85,260,753 (GRCm39) V140G possibly damaging Het
Or7e173 A G 9: 19,939,216 (GRCm39) V6A probably benign Het
Osmr A G 15: 6,882,027 (GRCm39) V39A probably damaging Het
Plekhh2 A G 17: 84,899,017 (GRCm39) H998R probably damaging Het
Prb1a G A 6: 132,184,388 (GRCm39) S415F unknown Het
Prl3d1 C T 13: 27,280,470 (GRCm39) T73I probably benign Het
Scgn A G 13: 24,137,921 (GRCm39) L250P probably damaging Het
Scyl3 T C 1: 163,779,773 (GRCm39) I580T probably benign Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Het
Shank2 A T 7: 143,585,041 (GRCm39) Q14L probably benign Het
Slc22a12 T A 19: 6,587,686 (GRCm39) N423Y probably damaging Het
Tenm4 T A 7: 96,473,056 (GRCm39) S951T probably benign Het
Ubash3b G A 9: 40,954,926 (GRCm39) P195S probably damaging Het
Vmn1r61 A G 7: 5,613,498 (GRCm39) F272S probably damaging Het
Zbtb41 A T 1: 139,358,053 (GRCm39) I454F probably benign Het
Zfp112 G T 7: 23,826,108 (GRCm39) C696F 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
R5811:Or2h2c UTSW 17 37,422,649 (GRCm39) missense probably benign 0.00
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
Z1177:Or2h2c UTSW 17 37,422,322 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- GTGTCCCCACAAGAGAGTTG -3'
(R):5'- CAGGCTTCACTCTCCAATGTAC -3'

Sequencing Primer
(F):5'- TGTCCCCACAAGAGAGTTGAATTAG -3'
(R):5'- GGCTTCACTCTCCAATGTACTTCTTC -3'
Posted On 2022-08-09