Incidental Mutation 'R6484:Or2h1'
ID 517280
Institutional Source Beutler Lab
Gene Symbol Or2h1
Ensembl Gene ENSMUSG00000095377
Gene Name olfactory receptor family 2 subfamily H member 1
Synonyms GA_x6K02T2PSCP-1533927-1532989, Olfr91, MOR256-20
MMRRC Submission 044616-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R6484 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 37401510-37409170 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37404158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 203 (I203F)
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: I203F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129446
Gene: ENSMUSG00000095377
AA Change: I203F

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: I203F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216488
Predicted Effect probably benign
Transcript: ENSMUST00000217372
AA Change: I203F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000217397
Meta Mutation Damage Score 0.1005 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.7%
Validation Efficiency 100% (60/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abce1 A T 8: 80,416,952 (GRCm39) M353K probably damaging Het
Adgre4 G A 17: 56,109,036 (GRCm39) V348M possibly damaging Het
Alg8 T C 7: 97,032,135 (GRCm39) V228A probably benign Het
Bltp2 T C 11: 78,169,921 (GRCm39) V1548A probably damaging Het
Btbd8 T C 5: 107,651,451 (GRCm39) S115P probably benign Het
Car8 A G 4: 8,189,362 (GRCm39) F151L probably benign Het
CN725425 A G 15: 91,144,775 (GRCm39) Q546R probably benign Het
Col17a1 C T 19: 47,658,868 (GRCm39) V414M possibly damaging Het
Col6a3 C A 1: 90,719,645 (GRCm39) probably null Het
Cyp51 G A 5: 4,136,627 (GRCm39) T389M probably benign Het
Cyren G A 6: 34,851,551 (GRCm39) S101L probably damaging Het
Dazap1 A G 10: 80,113,481 (GRCm39) T126A probably benign Het
Dscc1 T A 15: 54,943,686 (GRCm39) K395* probably null Het
Dthd1 A G 5: 62,971,675 (GRCm39) N166S probably benign Het
Eefsec C G 6: 88,274,770 (GRCm39) W398S probably damaging Het
Enpep T A 3: 129,115,130 (GRCm39) H214L probably damaging Het
Esf1 T C 2: 140,000,458 (GRCm39) I443V probably benign Het
Espl1 T C 15: 102,231,935 (GRCm39) V1984A possibly damaging Het
Hip1 A G 5: 135,468,983 (GRCm39) S280P probably damaging Het
Il12rb1 C T 8: 71,262,348 (GRCm39) probably null Het
Itgax T A 7: 127,732,890 (GRCm39) C255S probably benign Het
Kifc5b T C 17: 27,143,746 (GRCm39) V506A probably damaging Het
Klf3 A G 5: 64,980,372 (GRCm39) E54G probably damaging Het
Lrig3 A G 10: 125,832,478 (GRCm39) probably null Het
Mctp1 A G 13: 76,836,744 (GRCm39) I104V probably benign Het
Mdga2 T C 12: 66,676,843 (GRCm39) E552G possibly damaging Het
Mpc1 A G 17: 8,515,788 (GRCm39) E160G possibly damaging Het
Myh10 T A 11: 68,590,293 (GRCm39) I76N probably damaging Het
Myh7b A T 2: 155,470,563 (GRCm39) I1032F probably benign Het
Olfml2a G A 2: 38,849,780 (GRCm39) V499I probably damaging Het
Or4f58 A T 2: 111,851,764 (GRCm39) L145* probably null Het
Or5b105 A G 19: 13,080,431 (GRCm39) V79A probably benign Het
P2ry12 A G 3: 59,124,754 (GRCm39) L307P probably damaging Het
Pappa C A 4: 65,232,896 (GRCm39) A1345D probably damaging Het
Phox2b A G 5: 67,255,044 (GRCm39) I135T possibly damaging Het
Poln C T 5: 34,286,857 (GRCm39) A104T probably benign Het
Prkce A G 17: 86,798,237 (GRCm39) D342G probably benign Het
Ptchd3 T A 11: 121,733,764 (GRCm39) F885I possibly damaging Het
Rcbtb2 A T 14: 73,414,490 (GRCm39) S434C probably damaging Het
Rfc1 A G 5: 65,451,020 (GRCm39) V356A probably benign Het
Rln1 A G 19: 29,311,902 (GRCm39) F32S probably benign Het
Ryr2 A G 13: 11,677,269 (GRCm39) L3194P possibly damaging Het
Sat2 T C 11: 69,513,353 (GRCm39) V34A probably damaging Het
Scgb3a2 T C 18: 43,899,784 (GRCm39) I24T possibly damaging Het
Slc35e2 T G 4: 155,697,104 (GRCm39) V206G probably damaging Het
Slit3 A T 11: 35,552,125 (GRCm39) M890L probably benign Het
Sorl1 A G 9: 41,887,703 (GRCm39) L2042P probably damaging Het
Ssbp1 T A 6: 40,451,600 (GRCm39) V9E probably damaging Het
Tbc1d23 C T 16: 56,998,379 (GRCm39) V520M probably damaging Het
Thumpd2 T C 17: 81,361,617 (GRCm39) E203G probably benign Het
Tlr11 A G 14: 50,600,135 (GRCm39) D707G probably damaging Het
Tlr12 T A 4: 128,509,847 (GRCm39) D801V probably damaging Het
Tnrc6b T G 15: 80,763,525 (GRCm39) N342K possibly damaging Het
Vmn1r191 A C 13: 22,362,918 (GRCm39) F279V probably benign Het
Vmn2r13 A T 5: 109,304,540 (GRCm39) C630* probably null Het
Zbtb1 C T 12: 76,432,665 (GRCm39) T217I probably damaging Het
Zfp385b ATCTTCTTCTTCT ATCTTCTTCTTCTTCT 2: 77,549,992 (GRCm39) probably benign Het
Zzef1 C T 11: 72,786,097 (GRCm39) P2090S probably damaging Het
Other mutations in Or2h1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Or2h1 APN 17 37,404,224 (GRCm39) missense probably benign 0.00
IGL03352:Or2h1 APN 17 37,404,311 (GRCm39) missense probably benign 0.06
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
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
Predicted Primers PCR Primer
(F):5'- CTGCAGATAGACAGCGATTACTG -3'
(R):5'- TCTTTTGACCGCTATGTGGC -3'

Sequencing Primer
(F):5'- AGCGATTACTGAGCTGTAGAAG -3'
(R):5'- GCACTATGCCACCGTCATC -3'
Posted On 2018-05-21