Incidental Mutation 'R5752:Or2at1'
ID 444849
Institutional Source Beutler Lab
Gene Symbol Or2at1
Ensembl Gene ENSMUSG00000073997
Gene Name olfactory receptor family 2 subfamily AT member 1
Synonyms MOR101-2, Olfr521, GA_x6K02T2PBJ9-2443810-2444775
MMRRC Submission 043357-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R5752 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 99416371-99417337 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99417155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 262 (I262T)
Ref Sequence ENSEMBL: ENSMUSP00000151473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098263] [ENSMUST00000219663] [ENSMUST00000220001]
AlphaFold E9Q519
Predicted Effect probably benign
Transcript: ENSMUST00000098263
AA Change: I262T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000095863
Gene: ENSMUSG00000073997
AA Change: I262T

DomainStartEndE-ValueType
Pfam:7tm_4 36 313 1.4e-63 PFAM
Pfam:7TM_GPCR_Srsx 40 310 7.4e-6 PFAM
Pfam:7tm_1 46 309 2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219663
AA Change: I262T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000220001
AA Change: I262T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (58/59)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330017A19Rik C A 17: 47,200,966 (GRCm39) probably benign Het
Aldh1l2 C A 10: 83,356,244 (GRCm39) G49C probably damaging Het
Arhgap26 G A 18: 39,419,725 (GRCm39) E11K probably damaging Het
Asns C T 6: 7,689,365 (GRCm39) G46S probably damaging Het
Atrn G T 2: 130,748,464 (GRCm39) probably benign Het
Cep126 A C 9: 8,120,746 (GRCm39) Y92* probably null Het
Cfap69 T C 5: 5,639,204 (GRCm39) T567A probably damaging Het
Clgn T A 8: 84,123,670 (GRCm39) Y61N probably damaging Het
Col28a1 T G 6: 8,015,025 (GRCm39) K793N possibly damaging Het
Cxcl9 C A 5: 92,471,715 (GRCm39) M108I probably benign Het
Cyp4f37 A T 17: 32,850,306 (GRCm39) I318F probably damaging Het
Daam1 T C 12: 71,993,320 (GRCm39) M363T unknown Het
Dnajc13 A C 9: 104,069,973 (GRCm39) probably null Het
Entpd2 G A 2: 25,289,781 (GRCm39) probably benign Het
F3 T A 3: 121,526,053 (GRCm39) N205K probably damaging Het
Fat2 A T 11: 55,180,063 (GRCm39) F1426Y possibly damaging Het
Galnt6 A T 15: 100,602,007 (GRCm39) F267I probably damaging Het
Gm1322 G A 2: 67,014,979 (GRCm39) noncoding transcript Het
Hdgfl3 A C 7: 81,549,451 (GRCm39) S143A possibly damaging Het
Ints7 T A 1: 191,308,005 (GRCm39) D12E probably benign Het
Kank3 A G 17: 34,037,037 (GRCm39) T114A probably benign Het
Lrp1b A G 2: 41,185,624 (GRCm39) Y1364H probably damaging Het
Mef2b A G 8: 70,618,267 (GRCm39) T116A possibly damaging Het
Megf8 C T 7: 25,054,539 (GRCm39) T1885I probably damaging Het
Mrps11 A G 7: 78,433,343 (GRCm39) K30E probably benign Het
Naca T A 10: 127,877,797 (GRCm39) probably benign Het
Ncoa4-ps A G 12: 119,226,349 (GRCm39) noncoding transcript Het
Nhsl3 GGTG GGTGTG 4: 129,117,773 (GRCm39) probably null Het
Paip2b C T 6: 83,808,252 (GRCm39) probably null Het
Plcb2 G T 2: 118,541,532 (GRCm39) probably benign Het
Plcd4 A G 1: 74,587,131 (GRCm39) probably null Het
Pnpla8 A G 12: 44,329,670 (GRCm39) N74S probably benign Het
Pot1b A T 17: 55,994,834 (GRCm39) I276N probably damaging Het
Qprt C T 7: 126,708,416 (GRCm39) G5D probably benign Het
Rab11fip1 T C 8: 27,646,614 (GRCm39) N154S probably damaging Het
Rin3 G A 12: 102,279,378 (GRCm39) probably benign Het
Sdf4 C T 4: 156,080,761 (GRCm39) P37S probably damaging Het
Selp A T 1: 163,964,811 (GRCm39) D491V probably damaging Het
Sh3gl3 A G 7: 81,824,696 (GRCm39) probably benign Het
Sp110 G C 1: 85,504,923 (GRCm39) probably benign Het
Spata31d1e T C 13: 59,891,016 (GRCm39) Y268C probably damaging Het
Tas2r134 A G 2: 51,517,880 (GRCm39) R120G probably damaging Het
Tgfbr3 T C 5: 107,287,673 (GRCm39) R509G probably benign Het
Tle3 T A 9: 61,314,753 (GRCm39) Y231N probably damaging Het
Top6bl C A 19: 4,676,048 (GRCm39) A695S probably benign Het
Ttc41 C T 10: 86,594,210 (GRCm39) T881I probably benign Het
Ttll8 T C 15: 88,816,931 (GRCm39) Y271C probably benign Het
Ttn A T 2: 76,778,328 (GRCm39) I1307K possibly damaging Het
Ube2k A G 5: 65,723,411 (GRCm39) D48G probably damaging Het
Vcan T C 13: 89,828,069 (GRCm39) T3126A probably damaging Het
Vps13d T C 4: 144,875,540 (GRCm39) T1656A probably benign Het
Zzz3 C A 3: 152,157,759 (GRCm39) S777R possibly damaging Het
Other mutations in Or2at1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02303:Or2at1 APN 7 99,417,179 (GRCm39) missense possibly damaging 0.73
IGL02491:Or2at1 APN 7 99,416,540 (GRCm39) missense possibly damaging 0.85
BB007:Or2at1 UTSW 7 99,416,803 (GRCm39) missense probably benign 0.37
BB017:Or2at1 UTSW 7 99,416,803 (GRCm39) missense probably benign 0.37
R0544:Or2at1 UTSW 7 99,416,867 (GRCm39) missense probably benign
R1029:Or2at1 UTSW 7 99,416,431 (GRCm39) missense probably benign 0.01
R1840:Or2at1 UTSW 7 99,416,803 (GRCm39) missense probably benign 0.37
R4709:Or2at1 UTSW 7 99,416,989 (GRCm39) missense probably damaging 1.00
R5215:Or2at1 UTSW 7 99,416,717 (GRCm39) missense probably damaging 1.00
R5934:Or2at1 UTSW 7 99,416,596 (GRCm39) missense probably damaging 1.00
R6913:Or2at1 UTSW 7 99,416,924 (GRCm39) missense probably damaging 1.00
R7394:Or2at1 UTSW 7 99,416,553 (GRCm39) missense probably damaging 1.00
R7554:Or2at1 UTSW 7 99,417,210 (GRCm39) missense possibly damaging 0.62
R7930:Or2at1 UTSW 7 99,416,803 (GRCm39) missense probably benign 0.37
R8332:Or2at1 UTSW 7 99,417,334 (GRCm39) makesense probably null
R9613:Or2at1 UTSW 7 99,416,536 (GRCm39) missense probably benign
Z1177:Or2at1 UTSW 7 99,417,121 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- CTCATGGGCTTCTGCATTGC -3'
(R):5'- ACGAGGGAAAGTTCAGTCTACAC -3'

Sequencing Primer
(F):5'- GCTTCTGCATTGCCATGG -3'
(R):5'- AGTTCAGTCTACACCATTATGGG -3'
Posted On 2016-11-21