Incidental Mutation 'IGL02851:Or2h2'
ID 361886
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: 0.081) question?
Stock # IGL02851
Quality Score
Status
Chromosome 17
Chromosomal Location 37396083-37397128 bp(-) (GRCm39)
Type of Mutation splice site (4462 bp from exon)
DNA Base Change (assembly) T to C at 37397048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070808] [ENSMUST00000207101] [ENSMUST00000215195] [ENSMUST00000216376] [ENSMUST00000216488] [ENSMUST00000217372] [ENSMUST00000217397]
AlphaFold Q0VEL5
Predicted Effect probably benign
Transcript: ENSMUST00000070808
AA Change: N3S

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000065322
Gene: ENSMUSG00000056600
AA Change: N3S

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
AA Change: N3S

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000215195
AA Change: N3S

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215502
Predicted Effect probably null
Transcript: ENSMUST00000216376
Predicted Effect probably benign
Transcript: ENSMUST00000216488
AA Change: N3S

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably null
Transcript: ENSMUST00000217372
Predicted Effect probably benign
Transcript: ENSMUST00000217397
AA Change: N3S

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 T C 12: 112,623,518 (GRCm39) E314G probably damaging Het
Amtn C A 5: 88,529,481 (GRCm39) Q106K probably benign Het
Birc6 T C 17: 74,916,184 (GRCm39) F1700S probably damaging Het
Brdt T C 5: 107,525,861 (GRCm39) S905P possibly damaging Het
Ccdc68 C T 18: 70,080,236 (GRCm39) Q194* probably null Het
Cdc27 A G 11: 104,417,807 (GRCm39) probably benign Het
Cdh13 A G 8: 119,401,897 (GRCm39) T100A probably benign Het
Cdsn A G 17: 35,866,791 (GRCm39) H440R possibly damaging Het
Cenpf C A 1: 189,390,227 (GRCm39) D1202Y probably damaging Het
Chat C A 14: 32,180,570 (GRCm39) V21L probably benign Het
Clca4c-ps T A 3: 144,585,493 (GRCm39) noncoding transcript Het
Cst9 A G 2: 148,677,203 (GRCm39) I25V probably benign Het
Dennd1b C A 1: 139,096,705 (GRCm39) probably benign Het
Dnah9 A G 11: 65,928,570 (GRCm39) probably benign Het
Dpp3 T G 19: 4,973,159 (GRCm39) Q145P probably benign Het
Elovl5 C T 9: 77,888,784 (GRCm39) T217M probably damaging Het
Etl4 T C 2: 20,812,840 (GRCm39) V906A possibly damaging Het
Gm10647 C T 9: 66,705,543 (GRCm39) probably benign Het
Grm5 A G 7: 87,723,918 (GRCm39) N736S probably damaging Het
Hectd1 A G 12: 51,814,423 (GRCm39) S1638P possibly damaging Het
Hsd3b2 T G 3: 98,623,740 (GRCm39) E46A possibly damaging Het
Igkv15-103 A G 6: 68,414,674 (GRCm39) T38A probably benign Het
Itpr2 C A 6: 146,287,477 (GRCm39) V450L probably damaging Het
Kbtbd12 T C 6: 88,595,311 (GRCm39) H173R probably benign Het
Man1a G A 10: 53,795,340 (GRCm39) R638W probably damaging Het
Mterf2 A T 10: 84,955,878 (GRCm39) S249T probably damaging Het
Muc6 T C 7: 141,234,627 (GRCm39) D700G probably damaging Het
Myh13 A G 11: 67,239,742 (GRCm39) H764R possibly damaging Het
Myh7b A G 2: 155,470,747 (GRCm39) D1065G probably damaging Het
Naip1 C A 13: 100,569,770 (GRCm39) W288L probably damaging Het
Naip6 C A 13: 100,437,168 (GRCm39) A452S probably benign Het
Nop2 A C 6: 125,121,048 (GRCm39) K610T possibly damaging Het
Nop2 G T 6: 125,121,033 (GRCm39) G605V probably benign Het
Npvf G A 6: 50,629,670 (GRCm39) R107W probably benign Het
Or10h28 T A 17: 33,488,328 (GRCm39) I210K probably benign Het
Os9 G A 10: 126,935,262 (GRCm39) probably benign Het
Parp4 T C 14: 56,886,326 (GRCm39) S1802P unknown Het
Piezo2 G A 18: 63,153,704 (GRCm39) S2547F probably benign Het
Plekha7 G T 7: 115,734,413 (GRCm39) A1024E probably damaging Het
R3hdm1 T C 1: 128,102,677 (GRCm39) probably benign Het
Robo4 T C 9: 37,324,678 (GRCm39) S1022P probably damaging Het
Sc5d T C 9: 42,166,690 (GRCm39) N283S probably benign Het
Scn10a C T 9: 119,500,674 (GRCm39) V202M probably damaging Het
Slco1a8 C T 6: 141,949,197 (GRCm39) G60R probably damaging Het
Spag16 T C 1: 70,304,067 (GRCm39) I366T possibly damaging Het
Sptbn4 G A 7: 27,126,258 (GRCm39) R222C possibly damaging Het
Tlr9 C T 9: 106,101,929 (GRCm39) Q407* probably null Het
Trappc12 G A 12: 28,741,405 (GRCm39) S768L probably damaging Het
Vmn2r44 A T 7: 8,386,050 (GRCm39) L63Q probably damaging Het
Zfy2 C T Y: 2,106,894 (GRCm39) G580D probably benign Het
Zfy2 T A Y: 2,117,188 (GRCm39) H213L 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
IGL02036:Or2h2 APN 17 37,396,559 (GRCm39) missense probably damaging 1.00
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 2015-12-18