Incidental Mutation 'IGL01628:Or2h2'
ID 92833
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 # IGL01628
Quality Score
Status
Chromosome 17
Chromosomal Location 37396083-37397128 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 37396192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 288 (Y288*)
Ref Sequence ENSEMBL: ENSMUSP00000150119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070808] [ENSMUST00000207101] [ENSMUST00000215195] [ENSMUST00000216488] [ENSMUST00000217397]
AlphaFold Q0VEL5
Predicted Effect probably null
Transcript: ENSMUST00000070808
AA Change: Y288*
SMART Domains Protein: ENSMUSP00000065322
Gene: ENSMUSG00000056600
AA Change: Y288*

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 null
Transcript: ENSMUST00000215195
AA Change: Y288*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215502
Predicted Effect probably null
Transcript: ENSMUST00000216488
AA Change: Y288*
Predicted Effect probably null
Transcript: ENSMUST00000217397
AA Change: Y288*
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430005L14Rik T C 4: 154,045,436 (GRCm39) V155A probably damaging Het
Agtpbp1 T A 13: 59,655,877 (GRCm39) probably benign Het
Bltp1 T G 3: 37,062,634 (GRCm39) V3382G probably damaging Het
Cd300ld A G 11: 114,876,999 (GRCm39) I144T probably benign Het
Cmc1 A T 9: 117,944,452 (GRCm39) I22K probably benign Het
Cyp3a59 A G 5: 146,036,629 (GRCm39) N277S possibly damaging Het
Edil3 G T 13: 89,467,945 (GRCm39) probably benign Het
Glipr2 C A 4: 43,977,565 (GRCm39) A136E probably damaging Het
Gm8297 G A 14: 16,164,995 (GRCm39) M1I probably null Het
Insrr C A 3: 87,708,099 (GRCm39) C180* probably null Het
Kat2b A G 17: 53,917,925 (GRCm39) N95D possibly damaging Het
Mgat4b A G 11: 50,124,136 (GRCm39) I359V probably benign Het
Parp9 A G 16: 35,777,285 (GRCm39) T177A possibly damaging Het
Rmdn2 T A 17: 79,979,817 (GRCm39) Y361* probably null Het
Rusc2 A C 4: 43,425,729 (GRCm39) Q1278P probably damaging Het
Setbp1 A T 18: 78,899,992 (GRCm39) L1225Q probably damaging Het
Slc39a10 A T 1: 46,874,683 (GRCm39) H206Q probably benign Het
Slc4a10 A G 2: 62,099,010 (GRCm39) Y586C probably damaging Het
Sos1 C T 17: 80,730,106 (GRCm39) probably benign Het
Tnn A G 1: 159,975,172 (GRCm39) I85T possibly damaging Het
Ttn A G 2: 76,769,036 (GRCm39) probably null Het
Wdr33 G T 18: 32,021,363 (GRCm39) G638C unknown Het
Zfp976 T C 7: 42,261,935 (GRCm39) Y634C unknown Het
Other mutations in Or2h2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01893:Or2h2 APN 17 37,396,760 (GRCm39) missense probably damaging 0.99
IGL02036:Or2h2 APN 17 37,396,559 (GRCm39) missense probably damaging 1.00
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 2013-12-09