Incidental Mutation 'R7488:Or8a1'
ID 580345
Institutional Source Beutler Lab
Gene Symbol Or8a1
Ensembl Gene
Gene Name olfactory receptor family 8 subfamily A member 1
Synonyms GA_x6K02T2PVTD-31408136-31407207, Olfr151, M71, MOR171-2
MMRRC Submission 045562-MU
Accession Numbers
Essential gene? Not available question?
Stock # R7488 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 37641273-37642357 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37641983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 99 (S99P)
Ref Sequence ENSEMBL: ENSMUSP00000148694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000211893] [ENSMUST00000221099]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000211893
AA Change: S99P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000221099
AA Change: S99P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,197,179 (GRCm39) F251I possibly damaging Het
Abcb11 C T 2: 69,108,146 (GRCm39) G717D probably benign Het
Abcc1 G A 16: 14,207,763 (GRCm39) W47* probably null Het
Ahnak2 A G 12: 112,748,641 (GRCm39) I402T Het
Ankfy1 G A 11: 72,650,769 (GRCm39) R984Q probably benign Het
Apaf1 A G 10: 90,890,242 (GRCm39) I598T probably benign Het
Apobec1 G T 6: 122,558,521 (GRCm39) P78Q possibly damaging Het
Asap1 A T 15: 63,991,974 (GRCm39) I737N probably benign Het
Aste1 T A 9: 105,279,904 (GRCm39) probably null Het
Bcr A C 10: 74,996,162 (GRCm39) D902A possibly damaging Het
Bicra T C 7: 15,723,367 (GRCm39) probably null Het
Ccdc27 T C 4: 154,117,424 (GRCm39) T508A probably benign Het
Ccz1 T A 5: 143,928,401 (GRCm39) N383I probably damaging Het
Cdh24 T C 14: 54,869,637 (GRCm39) D760G possibly damaging Het
Cdhr2 T C 13: 54,865,728 (GRCm39) I242T probably benign Het
Cdk4 T A 10: 126,900,106 (GRCm39) M1K probably null Het
Cfap96 A G 8: 46,415,331 (GRCm39) V225A probably benign Het
Cntn5 A T 9: 9,970,570 (GRCm39) S302T probably damaging Het
Col25a1 G T 3: 130,378,350 (GRCm39) G601V probably damaging Het
Cpb1 A G 3: 20,324,488 (GRCm39) L62P possibly damaging Het
Cpne1 T C 2: 155,919,857 (GRCm39) T264A probably benign Het
Cpvl T A 6: 53,924,727 (GRCm39) N198Y probably damaging Het
Cyp2u1 A C 3: 131,091,596 (GRCm39) L308R probably damaging Het
Ddx54 G T 5: 120,762,789 (GRCm39) V637L probably benign Het
Dglucy C A 12: 100,823,310 (GRCm39) P472T possibly damaging Het
Dync2h1 A G 9: 7,124,855 (GRCm39) Y2006H probably benign Het
Eif5b T C 1: 38,089,387 (GRCm39) M1121T possibly damaging Het
Emsy A G 7: 98,264,762 (GRCm39) V545A possibly damaging Het
Ezh1 G A 11: 101,091,726 (GRCm39) L480F possibly damaging Het
Fbln2 T A 6: 91,242,845 (GRCm39) probably null Het
Gja10 T A 4: 32,602,058 (GRCm39) K109* probably null Het
Gm28042 A G 2: 119,870,438 (GRCm39) N762S probably benign Het
Gnb1l C A 16: 18,359,220 (GRCm39) P7Q possibly damaging Het
Grem2 A T 1: 174,664,685 (GRCm39) S55T probably damaging Het
Gsn A T 2: 35,186,433 (GRCm39) N393I possibly damaging Het
H6pd T A 4: 150,067,093 (GRCm39) Q439L probably benign Het
Hmcn2 G A 2: 31,310,842 (GRCm39) G3362E probably damaging Het
Ighv11-2 T C 12: 114,011,978 (GRCm39) Y79C probably damaging Het
Ikzf2 T A 1: 69,578,544 (GRCm39) N322Y probably benign Het
Il25 A G 14: 55,170,459 (GRCm39) I11V probably benign Het
Jak2 C T 19: 29,275,783 (GRCm39) T741I probably damaging Het
Kdm3b T C 18: 34,957,934 (GRCm39) S1300P probably damaging Het
Ldb3 T A 14: 34,289,402 (GRCm39) Q268L probably damaging Het
Lrrc23 T A 6: 124,756,075 (GRCm39) D6V unknown Het
Megf10 A G 18: 57,324,187 (GRCm39) Y76C probably damaging Het
Neb A T 2: 52,110,233 (GRCm39) M205K probably benign Het
Or12e8 T C 2: 87,188,597 (GRCm39) S270P probably damaging Het
Or6c2b G T 10: 128,947,605 (GRCm39) Q230K probably benign Het
Pcnx3 G A 19: 5,717,487 (GRCm39) R1541W possibly damaging Het
Pdgfd A G 9: 6,359,739 (GRCm39) Y270C probably damaging Het
Pds5b A T 5: 150,646,802 (GRCm39) D197V probably damaging Het
Pknox2 A G 9: 36,866,127 (GRCm39) M30T probably benign Het
Plekhg1 A T 10: 3,907,491 (GRCm39) S858C Het
Por A T 5: 135,762,498 (GRCm39) E400D probably benign Het
Pou2af2 C A 9: 51,201,360 (GRCm39) R232L probably damaging Het
Psip1 A G 4: 83,391,275 (GRCm39) probably null Het
Retreg1 G T 15: 25,889,628 (GRCm39) V111F Het
Rock1 G A 18: 10,122,762 (GRCm39) A353V probably damaging Het
Rpl6 C G 5: 121,346,591 (GRCm39) R231G probably benign Het
Scn7a C T 2: 66,587,574 (GRCm39) R43H probably benign Het
Scnn1g T A 7: 121,362,657 (GRCm39) N488K probably benign Het
Slc24a1 A G 9: 64,831,764 (GRCm39) V1111A probably benign Het
Snapc1 C T 12: 74,029,285 (GRCm39) S356L probably benign Het
Spata31e2 T C 1: 26,723,039 (GRCm39) T714A possibly damaging Het
Ssbp2 T A 13: 91,823,209 (GRCm39) N201K probably damaging Het
Tfdp2 A G 9: 96,179,695 (GRCm39) N43D probably damaging Het
Tmprss11d A G 5: 86,474,309 (GRCm39) I216T probably damaging Het
Tmprss4 A G 9: 45,086,853 (GRCm39) S303P probably benign Het
Tnpo2 A G 8: 85,781,663 (GRCm39) E815G probably benign Het
Trav6-1 A C 14: 52,875,972 (GRCm39) M1L possibly damaging Het
Trpm3 T C 19: 22,955,937 (GRCm39) V1133A probably damaging Het
Trpv1 C T 11: 73,129,355 (GRCm39) P91S probably benign Het
Trpv2 T C 11: 62,480,576 (GRCm39) Y338H probably damaging Het
Txnip T C 3: 96,467,539 (GRCm39) M336T probably benign Het
Vmn1r61 A T 7: 5,613,767 (GRCm39) H182Q possibly damaging Het
Vmn2r105 A G 17: 20,429,045 (GRCm39) V677A probably damaging Het
Wwp1 G T 4: 19,627,660 (GRCm39) T745K probably damaging Het
Xkr5 C A 8: 18,983,608 (GRCm39) E645* probably null Het
Zfp451 C T 1: 33,818,221 (GRCm39) R303H probably benign Het
Zyg11b T C 4: 108,123,655 (GRCm39) H104R possibly damaging Het
Other mutations in Or8a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6317:Or8a1 UTSW 9 37,641,725 (GRCm39) missense possibly damaging 0.88
R6547:Or8a1 UTSW 9 37,641,791 (GRCm39) missense probably benign 0.00
R6713:Or8a1 UTSW 9 37,641,560 (GRCm39) missense probably damaging 1.00
R7260:Or8a1 UTSW 9 37,642,049 (GRCm39) missense probably damaging 0.98
R7315:Or8a1 UTSW 9 37,641,872 (GRCm39) missense probably benign 0.16
R7849:Or8a1 UTSW 9 37,642,003 (GRCm39) missense probably damaging 1.00
R7958:Or8a1 UTSW 9 37,641,682 (GRCm39) missense probably damaging 1.00
R8529:Or8a1 UTSW 9 37,642,252 (GRCm39) missense probably damaging 0.99
R9088:Or8a1 UTSW 9 37,641,806 (GRCm39) missense probably damaging 1.00
R9300:Or8a1 UTSW 9 37,641,578 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ACATGAGGCCAGTCTCAATTG -3'
(R):5'- CTTTCTGGGGATCCTCGTAGTC -3'

Sequencing Primer
(F):5'- ATTGCTGAACCGATGAGTCC -3'
(R):5'- GATCCTCGTAGTCACCATGGTAG -3'
Posted On 2019-10-07