Incidental Mutation 'G1patch:Or2ah1'
ID 660666
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.591) question?
Stock # G1patch (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 85653317-85654252 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85654134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 273 (K273R)
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: K273R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000050833
Gene: ENSMUSG00000043892
AA Change: K273R

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: K273R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 100% (55/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 T C 8: 114,469,833 (GRCm39) Y623C probably damaging Het
Adgrv1 T C 13: 81,585,676 (GRCm39) E4596G probably damaging Het
Adgrv1 A T 13: 81,641,329 (GRCm39) C3267S probably damaging Het
Ankrd40 T G 11: 94,225,641 (GRCm39) V224G probably benign Het
Ap3s2 C T 7: 79,570,390 (GRCm39) probably benign Het
Apip T A 2: 102,922,870 (GRCm39) D229E possibly damaging Het
Atp2b4 C T 1: 133,634,725 (GRCm39) R1168H probably benign Het
Bcan T C 3: 87,902,791 (GRCm39) K329R possibly damaging Het
Camk1g T C 1: 193,032,628 (GRCm39) D261G possibly damaging Het
Ccdc30 T A 4: 119,188,796 (GRCm39) Q490L probably damaging Het
Ccdc83 A G 7: 89,896,261 (GRCm39) W103R probably damaging Het
Ctsl T A 13: 64,514,437 (GRCm39) R69* probably null Het
Dchs1 C T 7: 105,408,000 (GRCm39) R1944H probably damaging Het
Fgb T C 3: 82,951,098 (GRCm39) Y305C probably damaging Het
Fras1 T A 5: 96,929,199 (GRCm39) Y3868N possibly damaging Het
Gal3st2 T A 1: 93,801,424 (GRCm39) S27T probably benign Het
Galnt13 A G 2: 54,745,244 (GRCm39) D228G probably damaging Het
Gk5 A T 9: 96,037,523 (GRCm39) T346S probably benign Het
Gnrhr T C 5: 86,333,172 (GRCm39) I233V probably damaging Het
Greb1 T C 12: 16,738,568 (GRCm39) Y1465C probably damaging Het
H6pd A G 4: 150,080,815 (GRCm39) L10P probably damaging Het
Hspg2 G A 4: 137,242,618 (GRCm39) G611E probably damaging Het
Ighv7-4 A T 12: 114,186,489 (GRCm39) D94E probably damaging Het
Lamb3 T C 1: 192,986,890 (GRCm39) Y59H probably benign Het
Msantd1 C T 5: 35,078,765 (GRCm39) T100I probably damaging Het
Msx3 T A 7: 139,628,659 (GRCm39) probably benign Het
Mttp C A 3: 137,812,999 (GRCm39) A559S probably damaging Het
Myh1 C G 11: 67,092,719 (GRCm39) D4E probably damaging Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Or4k45 C T 2: 111,395,252 (GRCm39) C179Y probably damaging Het
Or52e19 A T 7: 102,959,561 (GRCm39) D211V probably damaging Het
Pcdhac1 T C 18: 37,223,381 (GRCm39) Y65H probably damaging Het
Pcdhga8 A T 18: 37,860,315 (GRCm39) Y457F probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Pja2 A T 17: 64,596,962 (GRCm39) M514K probably damaging Het
Plcxd2 T C 16: 45,792,488 (GRCm39) N284D probably damaging Het
Polr3d A T 14: 70,678,577 (GRCm39) M129K probably benign Het
Ppp1r42 T G 1: 10,069,732 (GRCm39) E110A probably damaging Het
Prdm2 G A 4: 142,859,471 (GRCm39) T1273M possibly damaging Het
Prelid2 A G 18: 42,045,514 (GRCm39) I132T possibly damaging Het
Sergef G A 7: 46,282,091 (GRCm39) probably null Het
Slc24a2 C A 4: 87,145,119 (GRCm39) probably null Het
Stxbp3 A T 3: 108,734,916 (GRCm39) D24E possibly damaging Het
Tas2r123 A T 6: 132,824,801 (GRCm39) M233L probably damaging Het
Thsd7a G A 6: 12,555,630 (GRCm39) H85Y possibly damaging Het
Tlr2 T A 3: 83,745,603 (GRCm39) E160V probably benign Het
Tmem171 A T 13: 98,828,678 (GRCm39) C157* probably null Het
Trpm3 T C 19: 22,903,392 (GRCm39) Y1051H probably damaging Het
Vmn2r28 A G 7: 5,491,408 (GRCm39) F280L probably benign Het
Xpo7 A T 14: 70,914,253 (GRCm39) Y748N probably damaging Het
Zan T C 5: 137,436,782 (GRCm39) S2024G unknown Het
Zfhx2 A T 14: 55,301,539 (GRCm39) Y2148* probably null Het
Zscan4-ps1 T C 7: 10,799,906 (GRCm39) T328A probably benign 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
IGL02796:Or2ah1 UTSW 2 85,653,933 (GRCm39) missense probably benign 0.00
R5322:Or2ah1 UTSW 2 85,653,531 (GRCm39) missense probably damaging 0.99
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'- ACTTCACTCACTGAGCTGGTG -3'
(R):5'- CCTCTTCAGACTTAGGTGGTAG -3'

Sequencing Primer
(F):5'- CACTCACTGAGCTGGTGGTTTTTG -3'
(R):5'- CTCTTCAGACTTAGGTGGTAGTTATC -3'
Posted On 2021-02-01