Incidental Mutation 'R6713:Or8a1'
ID 529217
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 044831-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6713 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 37641273-37642357 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37641560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 240 (C240R)
Ref Sequence ENSEMBL: ENSMUSP00000152140 (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: C240R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000221099
AA Change: C240R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.2952 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.9%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol10a C T 15: 77,373,051 (GRCm39) T229M possibly damaging Het
Cdh16 G A 8: 105,346,617 (GRCm39) Q226* probably null Het
Cemip A T 7: 83,592,845 (GRCm39) N1227K probably benign Het
Dusp13b A G 14: 21,798,541 (GRCm39) V41A probably damaging Het
F3 C T 3: 121,525,323 (GRCm39) T53I possibly damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fyb2 T A 4: 104,847,432 (GRCm39) M484K probably benign Het
Glb1l A T 1: 75,179,061 (GRCm39) H253Q probably benign Het
Grm8 T C 6: 27,363,190 (GRCm39) E775G probably damaging Het
Hipk3 C T 2: 104,276,916 (GRCm39) V388M probably damaging Het
Ighe T C 12: 113,232,908 (GRCm39) probably benign Het
Kif14 A G 1: 136,453,544 (GRCm39) T1491A probably benign Het
Klre1 A G 6: 129,559,229 (GRCm39) probably null Het
Kpna6 A T 4: 129,547,777 (GRCm39) L257M probably damaging Het
Ldhc G A 7: 46,515,955 (GRCm39) probably null Het
Lekr1 C A 3: 65,591,380 (GRCm39) A39D probably benign Het
Lins1 A G 7: 66,358,230 (GRCm39) T122A probably benign Het
Lrrc40 G A 3: 157,769,350 (GRCm39) R516Q probably benign Het
Meis3 G T 7: 15,916,255 (GRCm39) G72* probably null Het
Mpo A G 11: 87,686,194 (GRCm39) T115A probably damaging Het
Mrgprb5 A G 7: 47,818,537 (GRCm39) V66A probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nags C A 11: 102,037,347 (GRCm39) A146E probably benign Het
Nkain4 C T 2: 180,585,970 (GRCm39) G31D probably damaging Het
Or2y1 T G 11: 49,385,784 (GRCm39) C141W probably damaging Het
Or4k1 T A 14: 50,377,181 (GRCm39) H305L probably benign Het
Or5ak24 A C 2: 85,260,883 (GRCm39) C97G probably damaging Het
Otud6b C T 4: 14,822,739 (GRCm39) V122I probably benign Het
Ovca2 C T 11: 75,069,569 (GRCm39) S18N possibly damaging Het
Pax2 A G 19: 44,823,916 (GRCm39) S370G unknown Het
Pias2 G A 18: 77,153,416 (GRCm39) probably null Het
Slc2a10 T C 2: 165,357,128 (GRCm39) F263L probably damaging Het
Slc6a17 T G 3: 107,378,703 (GRCm39) M660L probably benign Het
Smarcc2 A G 10: 128,323,638 (GRCm39) probably null Het
Srcap A G 7: 127,134,089 (GRCm39) T937A probably benign Het
Ssh2 C A 11: 77,340,259 (GRCm39) D470E possibly damaging Het
St8sia1 A T 6: 142,775,008 (GRCm39) probably null Het
Supt20 T A 3: 54,606,022 (GRCm39) I36K possibly damaging Het
Tor1aip2 T A 1: 155,941,155 (GRCm39) L487Q probably damaging Het
Zfp619 G T 7: 39,187,322 (GRCm39) K1117N probably 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
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
R7488:Or8a1 UTSW 9 37,641,983 (GRCm39) missense probably damaging 0.98
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'- TTGTCCAGTGCGGTCTTCAC -3'
(R):5'- TTGTGAGGACCTCATCAGCC -3'

Sequencing Primer
(F):5'- AGTGCGGTCTTCACCTCCTTG -3'
(R):5'- GTGAGGACCTCATCAGCCACTAC -3'
Posted On 2018-07-24