Incidental Mutation 'IGL03352:Or2h1'
ID 419750
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2h1
Ensembl Gene ENSMUSG00000095377
Gene Name olfactory receptor family 2 subfamily H member 1
Synonyms GA_x6K02T2PSCP-1533927-1532989, Olfr91, MOR256-20
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # IGL03352
Quality Score
Status
Chromosome 17
Chromosomal Location 37401510-37409170 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 37404311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 152 (L152F)
Ref Sequence ENSEMBL: ENSMUSP00000150298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087144] [ENSMUST00000207101] [ENSMUST00000215195] [ENSMUST00000216376] [ENSMUST00000216488] [ENSMUST00000217372] [ENSMUST00000217397]
AlphaFold Q7TRL3
Predicted Effect probably benign
Transcript: ENSMUST00000087144
AA Change: L152F

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000129446
Gene: ENSMUSG00000095377
AA Change: L152F

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 probably benign
Transcript: ENSMUST00000207101
Predicted Effect probably benign
Transcript: ENSMUST00000215195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215502
Predicted Effect probably benign
Transcript: ENSMUST00000216376
AA Change: L152F

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000216488
Predicted Effect probably benign
Transcript: ENSMUST00000217372
AA Change: L152F

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000217397
Coding Region Coverage
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoah A G 13: 21,184,213 (GRCm39) S426G probably benign Het
Arap3 T C 18: 38,114,355 (GRCm39) probably benign Het
Arhgap45 T A 10: 79,866,585 (GRCm39) N1029K probably damaging Het
Arhgef10l A T 4: 140,311,242 (GRCm39) M1K probably null Het
Bloc1s6 T C 2: 122,584,638 (GRCm39) L71P probably damaging Het
Ccer1 G T 10: 97,529,439 (GRCm39) R34M unknown Het
Cd44 T C 2: 102,675,759 (GRCm39) probably benign Het
Col17a1 T C 19: 47,669,814 (GRCm39) probably null Het
Cspp1 A G 1: 10,117,662 (GRCm39) E38G possibly damaging Het
Dock10 A T 1: 80,584,013 (GRCm39) probably benign Het
Dsg3 A T 18: 20,660,689 (GRCm39) M343L probably benign Het
Eif3l G A 15: 78,961,251 (GRCm39) probably benign Het
Fcrl1 T C 3: 87,292,398 (GRCm39) L150P probably benign Het
Flg2 T G 3: 93,109,801 (GRCm39) S610A unknown Het
Grin3b C T 10: 79,809,615 (GRCm39) R374C probably damaging Het
H2-Oa A T 17: 34,313,377 (GRCm39) I143F probably damaging Het
Itgae C T 11: 73,022,556 (GRCm39) P924S probably damaging Het
Itpr2 T A 6: 146,058,602 (GRCm39) D2521V probably damaging Het
Itprid2 T A 2: 79,475,445 (GRCm39) M468K probably damaging Het
Laptm4a G A 12: 8,981,719 (GRCm39) G143D probably benign Het
Lrp6 T C 6: 134,456,726 (GRCm39) Y846C probably damaging Het
Mcm10 A T 2: 4,999,407 (GRCm39) S749T probably damaging Het
Nemf T C 12: 69,378,679 (GRCm39) N548D probably damaging Het
Nlrp4e T A 7: 23,020,251 (GRCm39) L246Q probably damaging Het
Nsun6 A T 2: 15,001,157 (GRCm39) C466* probably null Het
Olfm2 T C 9: 20,580,019 (GRCm39) D252G probably damaging Het
Or10j5 A C 1: 172,784,850 (GRCm39) M163L probably benign Het
Or14j9 T A 17: 37,874,681 (GRCm39) I174F probably damaging Het
Or9i14 T C 19: 13,792,292 (GRCm39) I221V probably damaging Het
Pcdhb14 C T 18: 37,582,057 (GRCm39) R388C possibly damaging Het
Piwil1 C T 5: 128,828,136 (GRCm39) T712I probably benign Het
Piwil4 G T 9: 14,637,183 (GRCm39) T377K probably damaging Het
Prg3 T C 2: 84,823,370 (GRCm39) F182L probably damaging Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Retsat T C 6: 72,575,666 (GRCm39) V19A probably damaging Het
Rpl21-ps4 A T 14: 11,227,760 (GRCm38) noncoding transcript Het
Sh3glb2 A G 2: 30,235,363 (GRCm39) V370A probably damaging Het
Skint4 G T 4: 112,022,883 (GRCm39) W459C possibly damaging Het
Slco1a1 T A 6: 141,857,611 (GRCm39) R573S probably benign Het
Smgc T C 15: 91,744,876 (GRCm39) S694P probably damaging Het
Spaca6 A G 17: 18,058,401 (GRCm39) Y7C probably damaging Het
Spn T C 7: 126,736,178 (GRCm39) T110A probably benign Het
Tepsin C T 11: 119,982,703 (GRCm39) V456I probably benign Het
Tex261 C T 6: 83,748,249 (GRCm39) R171Q possibly damaging Het
Tmem184a A T 5: 139,798,755 (GRCm39) F65I probably damaging Het
Tpm3 G A 3: 89,995,052 (GRCm39) probably null Het
Tubgcp2 T A 7: 139,580,940 (GRCm39) H671L probably benign Het
Unc13b T G 4: 43,237,110 (GRCm39) D3393E possibly damaging Het
Vcan T A 13: 89,853,125 (GRCm39) M612L probably benign Het
Vmn1r180 C A 7: 23,652,077 (GRCm39) S80* probably null Het
Vmn1r64 C T 7: 5,887,070 (GRCm39) V158I probably benign Het
Vps13d C T 4: 144,894,072 (GRCm39) V496I possibly damaging Het
Wee2 T G 6: 40,429,589 (GRCm39) probably null Het
Zfp804b T C 5: 6,820,039 (GRCm39) N972S probably benign Het
Other mutations in Or2h1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Or2h1 APN 17 37,404,224 (GRCm39) missense probably benign 0.00
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
R5160:Or2h1 UTSW 17 37,404,616 (GRCm39) missense possibly damaging 0.83
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
Posted On 2016-08-02