Incidental Mutation 'R4570:Or2h2'
ID 342104
Institutional Source Beutler Lab
Gene Symbol Or2h2
Ensembl Gene ENSMUSG00000056600
Gene Name olfactory receptor family 2 subfamily H member 2
Synonyms Olfr90, GA_x6K02T2PSCP-1526227-1525295, MOR256-21
MMRRC Submission 041794-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R4570 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 37396083-37397128 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37396471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 195 (I195M)
Ref Sequence ENSEMBL: ENSMUSP00000150119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070808] [ENSMUST00000207101] [ENSMUST00000215195] [ENSMUST00000216488] [ENSMUST00000217397]
AlphaFold Q0VEL5
Predicted Effect probably damaging
Transcript: ENSMUST00000070808
AA Change: I195M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065322
Gene: ENSMUSG00000056600
AA Change: I195M

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: I195M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215502
Predicted Effect probably damaging
Transcript: ENSMUST00000216488
AA Change: I195M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217397
AA Change: I195M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 99% (78/79)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 79,842,528 (GRCm39) D1154G probably damaging Het
Acsl5 T A 19: 55,280,206 (GRCm39) I493N probably damaging Het
Adgrf5 T A 17: 43,756,006 (GRCm39) S450T probably benign Het
Ak2 T C 4: 128,895,960 (GRCm39) V79A probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Arfgef2 C A 2: 166,698,458 (GRCm39) Q643K probably damaging Het
Asap3 A G 4: 135,967,496 (GRCm39) D605G probably damaging Het
Ccr5 C T 9: 123,924,912 (GRCm39) Q172* probably null Het
Cpxm2 T C 7: 131,745,435 (GRCm39) D130G probably benign Het
Cspg4b T A 13: 113,454,725 (GRCm39) V257D probably damaging Het
Cxcl12 T C 6: 117,145,633 (GRCm39) V6A probably benign Het
Cyp19a1 G A 9: 54,100,607 (GRCm39) P27S probably benign Het
Dmxl1 T C 18: 49,985,427 (GRCm39) Y225H probably damaging Het
Dzip1l A T 9: 99,529,221 (GRCm39) K317* probably null Het
Edil3 A G 13: 89,280,016 (GRCm39) probably benign Het
Enpep A T 3: 129,075,197 (GRCm39) I707K possibly damaging Het
Fcrlb A G 1: 170,740,189 (GRCm39) probably null Het
Flt1 C T 5: 147,531,423 (GRCm39) A847T probably damaging Het
Fsd2 T C 7: 81,209,518 (GRCm39) D108G probably benign Het
Gemin6 C T 17: 80,535,498 (GRCm39) R153* probably null Het
Gldc T A 19: 30,151,839 (GRCm39) M112L probably benign Het
Gm10267 C T 18: 44,289,492 (GRCm39) M79I probably benign Het
Gm10803 A G 2: 93,394,597 (GRCm39) Y123C unknown Het
Gm28040 C A 1: 133,257,119 (GRCm39) probably benign Het
Gm8674 T A 13: 50,056,570 (GRCm39) noncoding transcript Het
Gprasp1 C T X: 134,703,592 (GRCm39) R1262C probably damaging Het
Hba-a2 T C 11: 32,247,200 (GRCm39) Y141H probably damaging Het
Hmbox1 T A 14: 65,061,111 (GRCm39) I388F possibly damaging Het
Hs6st1 G T 1: 36,142,628 (GRCm39) V188L possibly damaging Het
Ipmk T G 10: 71,208,569 (GRCm39) H118Q probably benign Het
Jhy A G 9: 40,822,389 (GRCm39) I583T probably benign Het
Kcna2 A G 3: 107,012,111 (GRCm39) I231V probably benign Het
Kcnh7 T C 2: 62,667,439 (GRCm39) T367A possibly damaging Het
Kcp A T 6: 29,491,847 (GRCm39) C197* probably null Het
Klra2 C A 6: 131,220,900 (GRCm39) C54F probably damaging Het
Lcn9 T C 2: 25,713,591 (GRCm39) L39P probably benign Het
Lct T C 1: 128,227,641 (GRCm39) N1284S probably benign Het
Map6 T G 7: 98,985,763 (GRCm39) S556A possibly damaging Het
Mdn1 C A 4: 32,741,812 (GRCm39) T3861K probably damaging Het
Mrps12 A G 7: 28,439,388 (GRCm39) L109P probably damaging Het
Mucl3 T C 17: 35,948,883 (GRCm39) T239A possibly damaging Het
Mybphl G A 3: 108,272,347 (GRCm39) C12Y possibly damaging Het
Nek9 T C 12: 85,367,508 (GRCm39) K388E probably damaging Het
Nvl A G 1: 180,971,647 (GRCm39) V9A probably benign Het
Obscn T C 11: 58,897,654 (GRCm39) probably null Het
Pik3c3 T A 18: 30,423,603 (GRCm39) I233N possibly damaging Het
Pkhd1 T A 1: 20,451,747 (GRCm39) I2183F probably damaging Het
Ppara A G 15: 85,671,398 (GRCm39) I100V probably benign Het
Rem2 T C 14: 54,715,116 (GRCm39) S98P probably damaging Het
Rpl5-ps2 G T 2: 154,546,156 (GRCm39) noncoding transcript Het
Scmh1 T A 4: 120,385,495 (GRCm39) H623Q probably damaging Het
Scn9a A G 2: 66,313,902 (GRCm39) S1939P possibly damaging Het
Slc6a13 T C 6: 121,313,101 (GRCm39) probably null Het
Slc7a4 G A 16: 17,392,141 (GRCm39) T431I probably benign Het
Snupn A G 9: 56,885,346 (GRCm39) E217G probably benign Het
Spopl T A 2: 23,427,497 (GRCm39) K212* probably null Het
Strn T A 17: 78,984,801 (GRCm39) T281S possibly damaging Het
Supt3 T A 17: 45,352,116 (GRCm39) L265* probably null Het
Taf5l G A 8: 124,724,289 (GRCm39) T510M probably damaging Het
Tapbp C A 17: 34,145,427 (GRCm39) D415E probably damaging Het
Tarbp1 A T 8: 127,178,972 (GRCm39) D702E probably benign Het
Tfap2c C A 2: 172,399,247 (GRCm39) P473Q probably damaging Het
Tnc T C 4: 63,913,909 (GRCm39) N1301S probably damaging Het
Trim33 A G 3: 103,237,481 (GRCm39) Q179R probably damaging Het
Txnrd2 A G 16: 18,287,554 (GRCm39) N335S probably benign Het
Uggt1 T A 1: 36,189,154 (GRCm39) D1444V probably damaging Het
Ugt3a1 T C 15: 9,338,807 (GRCm39) L57P probably benign Het
Vmn2r6 A T 3: 64,467,068 (GRCm39) W144R probably benign Het
Vmn2r98 T A 17: 19,286,354 (GRCm39) M284K probably benign Het
Zfp558 A T 9: 18,367,799 (GRCm39) C330S possibly damaging Het
Zfp703 T C 8: 27,468,981 (GRCm39) V215A 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
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
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
Predicted Primers PCR Primer
(F):5'- GGATTCTTGGGCTGCAGATAAAC -3'
(R):5'- TGCACTATGCCACCATCATC -3'

Sequencing Primer
(F):5'- CTGCAGATAAACAGCGATGACTG -3'
(R):5'- ATCATCCACCCTCGCCTGTG -3'
Posted On 2015-09-24