Incidental Mutation 'R3968:Oard1'
ID 312461
Institutional Source Beutler Lab
Gene Symbol Oard1
Ensembl Gene ENSMUSG00000040771
Gene Name O-acyl-ADP-ribose deacylase 1
Synonyms AI314976
MMRRC Submission 040936-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3968 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 48717042-48724294 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48722282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 93 (Y93H)
Ref Sequence ENSEMBL: ENSMUSP00000130802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046549] [ENSMUST00000046651] [ENSMUST00000167180]
AlphaFold Q8R5F3
Predicted Effect probably benign
Transcript: ENSMUST00000046549
SMART Domains Protein: ENSMUSP00000047402
Gene: ENSMUSG00000040694

DomainStartEndE-ValueType
low complexity region 5 14 N/A INTRINSIC
Pfam:APOBEC_N 52 221 6.5e-54 PFAM
Pfam:APOBEC_C 160 214 1.4e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000046651
AA Change: Y93H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039280
Gene: ENSMUSG00000040771
AA Change: Y93H

DomainStartEndE-ValueType
Pfam:Macro 31 136 7.2e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167180
AA Change: Y93H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130802
Gene: ENSMUSG00000040771
AA Change: Y93H

DomainStartEndE-ValueType
Pfam:Macro 31 136 2e-10 PFAM
Meta Mutation Damage Score 0.8947 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.1%
Validation Efficiency 98% (40/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a deacylase that can convert O-acetyl-ADP-ribose to ADP-ribose and acetate, O-propionyl-ADP-ribose to ADP-ribose and propionate, and O-butyryl-ADP-ribose to ADP-ribose and butyrate. The ADP-ribose product is able to inhibit these reactions through a competitive feedback loop. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef12 C A 9: 42,916,847 (GRCm39) R432L probably damaging Het
Camk4 T A 18: 33,312,634 (GRCm39) I258N possibly damaging Het
Cdhr2 A T 13: 54,874,271 (GRCm39) N781I probably damaging Het
Cela1 C T 15: 100,582,534 (GRCm39) G93S probably damaging Het
Commd9 C A 2: 101,727,486 (GRCm39) N93K probably benign Het
Cysltr2 A G 14: 73,267,614 (GRCm39) I32T probably damaging Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Fcho2 A T 13: 98,871,564 (GRCm39) S551T probably benign Het
Fzd8 T C 18: 9,214,070 (GRCm39) V384A probably damaging Het
Gm14401 T C 2: 176,778,789 (GRCm39) Y292H possibly damaging Het
H2-M2 C T 17: 37,792,197 (GRCm39) G318S possibly damaging Het
Il21r G T 7: 125,227,215 (GRCm39) probably null Het
Itgam T C 7: 127,712,205 (GRCm39) Y697H probably damaging Het
Itpkb A T 1: 180,155,363 (GRCm39) probably benign Het
Lama3 A T 18: 12,713,398 (GRCm39) K3230M probably damaging Het
Ly75 T C 2: 60,158,217 (GRCm39) I1023V possibly damaging Het
Narf A T 11: 121,129,247 (GRCm39) E10D possibly damaging Het
Net1 A G 13: 3,957,795 (GRCm39) probably null Het
Nlrx1 A T 9: 44,166,722 (GRCm39) probably benign Het
Or4n5 A T 14: 50,132,983 (GRCm39) I92N probably damaging Het
Or8b54 A G 9: 38,686,664 (GRCm39) T38A probably benign Het
Pcm1 T C 8: 41,778,867 (GRCm39) L1825P probably damaging Het
Pecr G A 1: 72,315,468 (GRCm39) T94I probably damaging Het
Piezo2 A T 18: 63,144,767 (GRCm39) V2776E probably damaging Het
Pik3r2 G A 8: 71,223,065 (GRCm39) R452C probably benign Het
Ppfia2 T A 10: 106,742,382 (GRCm39) D1058E probably damaging Het
Ppl T C 16: 4,918,196 (GRCm39) probably null Het
Rab39 G A 9: 53,597,932 (GRCm39) A111V possibly damaging Het
Sema3g T C 14: 30,948,478 (GRCm39) probably null Het
Slc19a1 T C 10: 76,877,680 (GRCm39) Y72H probably damaging Het
Sntb2 T A 8: 107,723,772 (GRCm39) Y340* probably null Het
Srrm4 A G 5: 116,582,803 (GRCm39) probably benign Het
Ssb C T 2: 69,697,793 (GRCm39) probably benign Het
Sval2 T A 6: 41,838,861 (GRCm39) V14E probably damaging Het
Tmc2 T G 2: 130,043,991 (GRCm39) V75G probably benign Het
Tnnc2 T C 2: 164,619,457 (GRCm39) E129G possibly damaging Het
Vmn2r94 C A 17: 18,478,647 (GRCm39) Q33H possibly damaging Het
Yap1 C T 9: 7,973,877 (GRCm39) R188Q probably damaging Het
Other mutations in Oard1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1957:Oard1 UTSW 17 48,722,304 (GRCm39) nonsense probably null
R4512:Oard1 UTSW 17 48,723,788 (GRCm39) missense probably benign 0.01
R4594:Oard1 UTSW 17 48,722,267 (GRCm39) missense possibly damaging 0.84
R7684:Oard1 UTSW 17 48,723,726 (GRCm39) missense probably damaging 1.00
R8353:Oard1 UTSW 17 48,723,788 (GRCm39) missense probably benign 0.01
R8845:Oard1 UTSW 17 48,721,259 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATCCCTGCTTTAGATGAGTTAGGTG -3'
(R):5'- AGGTGTGTGCCTTCCATTAC -3'

Sequencing Primer
(F):5'- AGGTGAATGAATCTATAAAGCCATG -3'
(R):5'- TCAGTTAAGCTAGACCACAGATATGC -3'
Posted On 2015-04-29