Incidental Mutation 'R5322:Or2ah1'
ID 404882
Institutional Source Beutler Lab
Gene Symbol Or2ah1
Ensembl Gene ENSMUSG00000043892
Gene Name olfactory receptor family 2 subfamily AH member 1
Synonyms GA_x6K02T2Q125-47301584-47302519, Olfr1018, MOR260-5
MMRRC Submission 042905-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.576) question?
Stock # R5322 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 85653317-85654252 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85653531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 72 (I72N)
Ref Sequence ENSEMBL: ENSMUSP00000151090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054201] [ENSMUST00000214416]
AlphaFold A2ASV3
Predicted Effect probably damaging
Transcript: ENSMUST00000054201
AA Change: I72N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000050833
Gene: ENSMUSG00000043892
AA Change: I72N

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 4.1e-59 PFAM
Pfam:7tm_1 42 291 1.2e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214416
AA Change: I72N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 C T 5: 89,855,159 (GRCm39) probably null Het
Ankar T C 1: 72,729,545 (GRCm39) probably null Het
Ankrd60 T A 2: 173,410,610 (GRCm39) K303N possibly damaging Het
Appbp2 A G 11: 85,086,890 (GRCm39) probably null Het
Arvcf T C 16: 18,215,508 (GRCm39) M176T probably benign Het
Cachd1 T C 4: 100,809,319 (GRCm39) I268T probably damaging Het
Ccdc66 A G 14: 27,204,484 (GRCm39) S933P probably damaging Het
Cfi C T 3: 129,666,689 (GRCm39) P471S probably damaging Het
Ckmt2 G T 13: 92,009,891 (GRCm39) T143K possibly damaging Het
Cnksr3 A T 10: 7,085,078 (GRCm39) D15E probably damaging Het
Copb2 A T 9: 98,468,029 (GRCm39) K680N probably benign Het
D2hgdh T C 1: 93,757,620 (GRCm39) probably null Het
Dcn A T 10: 97,353,464 (GRCm39) T338S probably benign Het
Dipk2a A G 9: 94,402,615 (GRCm39) I349T probably benign Het
Dnah10 G A 5: 124,850,630 (GRCm39) G1644D probably damaging Het
Dnah5 A G 15: 28,384,390 (GRCm39) I3045V probably benign Het
Dock3 G A 9: 106,779,028 (GRCm39) T307I probably benign Het
Dock5 A T 14: 68,007,715 (GRCm39) I1498N probably benign Het
Emc1 A T 4: 139,081,557 (GRCm39) N62Y probably damaging Het
Enpp6 C A 8: 47,521,950 (GRCm39) H295N probably benign Het
Epha10 A G 4: 124,779,541 (GRCm39) Y129C probably damaging Het
Fbn2 A T 18: 58,172,387 (GRCm39) D2139E probably benign Het
Fbxl12 A T 9: 20,550,304 (GRCm39) V140E probably damaging Het
Fignl1 A T 11: 11,751,571 (GRCm39) F495I probably damaging Het
Gm43302 C T 5: 105,365,347 (GRCm39) A554T probably benign Het
Gpr157 A G 4: 150,183,309 (GRCm39) N160D probably benign Het
Il1rn G A 2: 24,238,641 (GRCm39) probably null Het
Kctd13 T A 7: 126,528,378 (GRCm39) L51Q probably damaging Het
Kndc1 T C 7: 139,516,722 (GRCm39) F1561L probably damaging Het
Mast2 A G 4: 116,190,608 (GRCm39) probably null Het
Mib1 A G 18: 10,792,975 (GRCm39) H637R probably damaging Het
Moxd1 A T 10: 24,120,151 (GRCm39) N93I possibly damaging Het
Mycbp2 T C 14: 103,423,119 (GRCm39) probably null Het
Myot T C 18: 44,487,216 (GRCm39) F351S probably benign Het
N4bp2 T A 5: 65,947,800 (GRCm39) N143K possibly damaging Het
Or10ac1 T C 6: 42,515,950 (GRCm39) D2G probably benign Het
Or51b6b T C 7: 103,309,879 (GRCm39) I193V possibly damaging Het
Or52a20 T A 7: 103,366,319 (GRCm39) W173R probably benign Het
Or52n2 C T 7: 104,542,371 (GRCm39) V155I probably benign Het
Or8b3 A T 9: 38,314,862 (GRCm39) I228F probably damaging Het
Or8b52 T A 9: 38,576,502 (GRCm39) I213L probably benign Het
Patl1 C T 19: 11,898,223 (GRCm39) R134* probably null Het
Paxbp1 T C 16: 90,812,050 (GRCm39) I887V probably benign Het
Pi4kb G A 3: 94,901,560 (GRCm39) R436Q probably benign Het
Pla2g3 A G 11: 3,438,686 (GRCm39) E112G probably benign Het
Ppp2r2a A G 14: 67,276,322 (GRCm39) probably null Het
Rela T A 19: 5,695,408 (GRCm39) S311R possibly damaging Het
Sidt1 T A 16: 44,101,985 (GRCm39) probably benign Het
Smco2 T C 6: 146,772,785 (GRCm39) L329P probably damaging Het
Speer4f1 A T 5: 17,682,347 (GRCm39) I77F possibly damaging Het
Tex14 A G 11: 87,402,298 (GRCm39) I462V probably benign Het
Tmem260 C T 14: 48,724,306 (GRCm39) R385W probably damaging Het
Trrap T C 5: 144,781,034 (GRCm39) V2974A probably damaging Het
Usp47 C T 7: 111,652,476 (GRCm39) T31I probably damaging Het
Zc2hc1a A G 3: 7,616,481 (GRCm39) N247S probably benign Het
Zeb2 A C 2: 44,887,107 (GRCm39) M582R probably damaging Het
Other mutations in Or2ah1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01637:Or2ah1 APN 2 85,653,332 (GRCm39) missense probably benign 0.00
IGL02795:Or2ah1 APN 2 85,653,856 (GRCm39) nonsense probably null
IGL03189:Or2ah1 APN 2 85,653,902 (GRCm39) missense probably benign 0.27
IGL03329:Or2ah1 APN 2 85,653,729 (GRCm39) missense probably benign 0.02
IGL03400:Or2ah1 APN 2 85,654,094 (GRCm39) missense probably damaging 1.00
G1patch:Or2ah1 UTSW 2 85,654,134 (GRCm39) missense probably damaging 0.97
IGL02796:Or2ah1 UTSW 2 85,653,933 (GRCm39) missense probably benign 0.00
R5597:Or2ah1 UTSW 2 85,653,804 (GRCm39) missense probably damaging 0.96
R6521:Or2ah1 UTSW 2 85,653,794 (GRCm39) missense probably benign 0.01
R6725:Or2ah1 UTSW 2 85,654,134 (GRCm39) missense probably damaging 0.97
R7068:Or2ah1 UTSW 2 85,653,396 (GRCm39) missense probably benign 0.00
R7105:Or2ah1 UTSW 2 85,654,224 (GRCm39) missense probably benign 0.22
R8011:Or2ah1 UTSW 2 85,653,957 (GRCm39) missense possibly damaging 0.90
R8294:Or2ah1 UTSW 2 85,653,531 (GRCm39) missense probably damaging 0.99
R9160:Or2ah1 UTSW 2 85,653,318 (GRCm39) start codon destroyed probably null 0.37
Z1176:Or2ah1 UTSW 2 85,653,365 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGGGGCTTTCATCTGATCC -3'
(R):5'- AAATGGCTGCCAGTTGGATACAG -3'

Sequencing Primer
(F):5'- ATCTGATCCCAAGGTACAGCTGG -3'
(R):5'- TGGTCCATAATAACAGTGTAGTGG -3'
Posted On 2016-07-22