Incidental Mutation 'R5160:Or2h1'
ID 396966
Institutional Source Beutler Lab
Gene Symbol Or2h1
Ensembl Gene ENSMUSG00000095377
Gene Name olfactory receptor family 2 subfamily H member 1
Synonyms GA_x6K02T2PSCP-1533927-1532989, Olfr91, MOR256-20
MMRRC Submission 042742-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R5160 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 37401510-37409170 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37404616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 50 (D50G)
Ref Sequence ENSEMBL: ENSMUSP00000150298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087144] [ENSMUST00000216376] [ENSMUST00000217372]
AlphaFold Q7TRL3
Predicted Effect possibly damaging
Transcript: ENSMUST00000087144
AA Change: D50G

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129446
Gene: ENSMUSG00000095377
AA Change: D50G

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 23 304 4.8e-7 PFAM
Pfam:7tm_4 29 306 5.7e-50 PFAM
Pfam:7tm_1 39 288 2.3e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216376
AA Change: D50G

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217372
AA Change: D50G

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aftph G A 11: 20,662,197 (GRCm39) P681L probably benign Het
Akap9 A G 5: 4,080,007 (GRCm39) R1920G probably damaging Het
Ano9 G A 7: 140,684,278 (GRCm39) R495C probably damaging Het
Apoa5 A G 9: 46,181,794 (GRCm39) Y290C probably damaging Het
Apob T C 12: 8,062,126 (GRCm39) I3536T possibly damaging Het
Arhgap42 T G 9: 8,997,656 (GRCm39) K823T probably damaging Het
Bicc1 T C 10: 70,768,066 (GRCm39) Y850C probably damaging Het
Cdh2 A T 18: 16,762,644 (GRCm39) D433E probably damaging Het
Cfap100 A G 6: 90,390,692 (GRCm39) probably null Het
Col6a5 T C 9: 105,808,208 (GRCm39) N947D unknown Het
Col8a2 A G 4: 126,204,205 (GRCm39) K72E possibly damaging Het
Ddx18 A G 1: 121,493,608 (GRCm39) probably null Het
Dna2 T C 10: 62,782,933 (GRCm39) V21A probably benign Het
Dnaja3 T A 16: 4,502,152 (GRCm39) M52K probably benign Het
Fnip2 G A 3: 79,396,298 (GRCm39) T504I probably damaging Het
Il18 G A 9: 50,489,193 (GRCm39) probably null Het
Ina T A 19: 47,003,519 (GRCm39) I109N probably damaging Het
Katnb1 G T 8: 95,822,098 (GRCm39) V275L probably benign Het
Kdm6b C A 11: 69,291,594 (GRCm39) probably benign Het
Kifc2 T A 15: 76,547,177 (GRCm39) L251Q probably damaging Het
Kmt2d A G 15: 98,738,105 (GRCm39) probably benign Het
Lcor T A 19: 41,544,053 (GRCm39) V82E probably damaging Het
Limk2 A C 11: 3,300,772 (GRCm39) V190G probably damaging Het
Luc7l A G 17: 26,486,271 (GRCm39) D150G probably benign Het
Magi3 T A 3: 103,935,224 (GRCm39) H903L possibly damaging Het
Mdh1b C T 1: 63,764,804 (GRCm39) R33Q probably null Het
Myo9a T C 9: 59,779,085 (GRCm39) F1614L probably benign Het
Ngly1 A G 14: 16,281,751 (GRCm38) T210A probably damaging Het
Oas1h A G 5: 121,009,145 (GRCm39) Y285C probably damaging Het
Or1l4b T A 2: 37,036,815 (GRCm39) M197K probably benign Het
Or2y12 T C 11: 49,426,516 (GRCm39) L168P probably damaging Het
Or4a79 T C 2: 89,551,763 (GRCm39) R231G probably damaging Het
Or5ac25 C T 16: 59,182,129 (GRCm39) G151R probably damaging Het
Or9s23 C T 1: 92,501,544 (GRCm39) T217I probably benign Het
Osbpl7 T C 11: 96,945,382 (GRCm39) S81P probably damaging Het
Pcdha3 T C 18: 37,079,480 (GRCm39) V74A probably damaging Het
Pi4ka T C 16: 17,140,917 (GRCm39) D68G probably benign Het
Prkcz A T 4: 155,377,689 (GRCm39) V79D probably benign Het
Ptpn12 T A 5: 21,202,829 (GRCm39) I650F probably damaging Het
Rb1 A G 14: 73,501,895 (GRCm39) silent Het
Rnaseh2b T G 14: 62,590,980 (GRCm39) Y56* probably null Het
Ryr3 A T 2: 112,477,272 (GRCm39) C4495S probably damaging Het
Tk1 A G 11: 117,715,572 (GRCm39) I45T possibly damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Upp1 T C 11: 9,085,193 (GRCm39) S227P possibly damaging Het
Vmn1r30 T A 6: 58,412,368 (GRCm39) N155Y probably benign Het
Wdr35 C T 12: 9,058,487 (GRCm39) A548V probably damaging Het
Zc3h3 A T 15: 75,681,512 (GRCm39) M523K probably benign Het
Zc3h4 T C 7: 16,168,573 (GRCm39) L894P unknown Het
Zfp790 C T 7: 29,529,192 (GRCm39) H626Y probably benign Het
Zfp873 C T 10: 81,896,876 (GRCm39) H536Y possibly damaging Het
Zmym4 A T 4: 126,763,977 (GRCm39) N1354K probably damaging Het
Zscan20 A G 4: 128,486,275 (GRCm39) S142P possibly damaging Het
Other mutations in Or2h1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Or2h1 APN 17 37,404,224 (GRCm39) missense probably benign 0.00
IGL03352:Or2h1 APN 17 37,404,311 (GRCm39) missense probably benign 0.06
R0506:Or2h1 UTSW 17 37,404,203 (GRCm39) missense probably damaging 1.00
R1980:Or2h1 UTSW 17 37,404,295 (GRCm39) missense probably damaging 1.00
R1982:Or2h1 UTSW 17 37,404,700 (GRCm39) missense probably damaging 0.98
R4941:Or2h1 UTSW 17 37,404,484 (GRCm39) missense probably damaging 1.00
R5795:Or2h1 UTSW 17 37,404,661 (GRCm39) missense probably damaging 1.00
R6484:Or2h1 UTSW 17 37,404,158 (GRCm39) missense probably benign
R6710:Or2h1 UTSW 17 37,404,638 (GRCm39) missense probably damaging 1.00
R6838:Or2h1 UTSW 17 37,404,058 (GRCm39) nonsense probably null
R8439:Or2h1 UTSW 17 37,404,664 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACTGTCAGGAGGATGCAC -3'
(R):5'- GGACACATTGAATCATGATGGG -3'

Sequencing Primer
(F):5'- ATGCACTCGGTGGTTCCCAAG -3'
(R):5'- CAGTACTTCCAGTTGGATTCATAGC -3'
Posted On 2016-06-21