Incidental Mutation 'IGL02036:Or2h2'
ID 184529
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2h2
Ensembl Gene ENSMUSG00000056600
Gene Name olfactory receptor family 2 subfamily H member 2
Synonyms Olfr90, GA_x6K02T2PSCP-1526227-1525295, MOR256-21
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL02036
Quality Score
Status
Chromosome 17
Chromosomal Location 37396083-37397128 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37396559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 166 (F166S)
Ref Sequence ENSEMBL: ENSMUSP00000150119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070808] [ENSMUST00000207101] [ENSMUST00000215195] [ENSMUST00000216376] [ENSMUST00000216488] [ENSMUST00000217372] [ENSMUST00000217397]
AlphaFold Q0VEL5
Predicted Effect probably damaging
Transcript: ENSMUST00000070808
AA Change: F166S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065322
Gene: ENSMUSG00000056600
AA Change: F166S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srbc 21 157 9e-8 PFAM
Pfam:7tm_4 29 306 5.3e-52 PFAM
Pfam:7tm_1 39 288 6.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207101
Predicted Effect probably damaging
Transcript: ENSMUST00000215195
AA Change: F166S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215502
Predicted Effect probably benign
Transcript: ENSMUST00000216376
Predicted Effect probably damaging
Transcript: ENSMUST00000216488
AA Change: F166S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000217372
Predicted Effect probably damaging
Transcript: ENSMUST00000217397
AA Change: F166S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cep290 T A 10: 100,393,962 (GRCm39) C2056* probably null Het
Cyp2c38 T A 19: 39,448,760 (GRCm39) D143V probably null Het
Ddx10 T C 9: 53,115,483 (GRCm39) K617R probably benign Het
Dgat2l6 T A X: 99,589,199 (GRCm39) I336N probably damaging Het
Dop1a A G 9: 86,413,818 (GRCm39) I1906M probably benign Het
Dpep3 T G 8: 106,700,417 (GRCm39) T430P probably benign Het
Dph1 T C 11: 75,074,991 (GRCm39) probably null Het
Epha7 T C 4: 28,950,509 (GRCm39) S775P probably damaging Het
F5 A G 1: 164,010,571 (GRCm39) probably benign Het
Fcgbpl1 G A 7: 27,836,950 (GRCm39) V290M possibly damaging Het
Hdx T A X: 110,569,564 (GRCm39) T342S probably benign Het
Inpp4a T C 1: 37,416,650 (GRCm39) probably benign Het
Itgad A G 7: 127,788,993 (GRCm39) T515A possibly damaging Het
Kcnc2 T A 10: 112,291,831 (GRCm39) S340T possibly damaging Het
Krba1 C T 6: 48,392,576 (GRCm39) T830I possibly damaging Het
Lrch1 G A 14: 75,032,733 (GRCm39) probably benign Het
Mag C T 7: 30,607,877 (GRCm39) V295M probably damaging Het
Mmp16 T A 4: 18,093,371 (GRCm39) D375E probably benign Het
Or2t44 T C 11: 58,677,923 (GRCm39) Y288H probably damaging Het
Or4c111 A G 2: 88,843,823 (GRCm39) V195A probably benign Het
Pcyox1l T C 18: 61,840,607 (GRCm39) probably benign Het
Secisbp2l A G 2: 125,600,127 (GRCm39) S403P probably benign Het
Sh3tc2 T A 18: 62,147,978 (GRCm39) H1229Q probably benign Het
Svep1 A C 4: 58,088,245 (GRCm39) W1735G possibly damaging Het
Tbxas1 T A 6: 38,998,091 (GRCm39) C220S probably benign Het
Vmn1r173 G T 7: 23,402,321 (GRCm39) M185I probably benign Het
Ywhag A G 5: 135,940,348 (GRCm39) V82A probably benign Het
Other mutations in Or2h2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01628:Or2h2 APN 17 37,396,192 (GRCm39) nonsense probably null
IGL01893:Or2h2 APN 17 37,396,760 (GRCm39) missense probably damaging 0.99
IGL02851:Or2h2 APN 17 37,397,048 (GRCm39) splice site probably null
R1701:Or2h2 UTSW 17 37,396,623 (GRCm39) missense probably benign 0.17
R1934:Or2h2 UTSW 17 37,396,906 (GRCm39) missense possibly damaging 0.69
R3773:Or2h2 UTSW 17 37,396,957 (GRCm39) nonsense probably null
R4570:Or2h2 UTSW 17 37,396,471 (GRCm39) missense probably damaging 1.00
R4571:Or2h2 UTSW 17 37,396,471 (GRCm39) missense probably damaging 1.00
R4888:Or2h2 UTSW 17 37,396,343 (GRCm39) missense probably damaging 1.00
R4914:Or2h2 UTSW 17 37,396,883 (GRCm39) missense probably damaging 1.00
R5014:Or2h2 UTSW 17 37,396,446 (GRCm39) missense probably benign 0.01
R6381:Or2h2 UTSW 17 37,396,977 (GRCm39) missense probably benign 0.00
R7163:Or2h2 UTSW 17 37,396,937 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07