Incidental Mutation 'R0829:Adprh'
ID 78447
Institutional Source Beutler Lab
Gene Symbol Adprh
Ensembl Gene ENSMUSG00000002844
Gene Name ADP-ribosylarginine hydrolase
Synonyms Arh1
MMRRC Submission 039009-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.681) question?
Stock # R0829 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 38265761-38273051 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 38266150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 331 (A331S)
Ref Sequence ENSEMBL: ENSMUSP00000002923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002923]
AlphaFold P54923
Predicted Effect probably benign
Transcript: ENSMUST00000002923
AA Change: A331S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002923
Gene: ENSMUSG00000002844
AA Change: A331S

DomainStartEndE-ValueType
Pfam:ADP_ribosyl_GH 11 331 1.1e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232145
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency 95% (37/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes that require DTT for maximal activity, the human enzyme is DTT-independent. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit increased sensitivity to the effects of cholera toxin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp4b T G 8: 13,440,098 (GRCm39) T83P probably damaging Het
Ccdc177 T C 12: 80,806,253 (GRCm39) E7G probably damaging Het
Cercam G T 2: 29,761,079 (GRCm39) R126L probably damaging Het
Cpb1 C T 3: 20,306,107 (GRCm39) probably benign Het
Dnah7a T C 1: 53,543,238 (GRCm39) M2311V probably benign Het
Dnah9 C A 11: 65,896,002 (GRCm39) V2458L probably benign Het
Dnajb6 T C 5: 29,990,020 (GRCm39) probably benign Het
Dst A G 1: 34,202,301 (GRCm39) T210A probably damaging Het
Gfpt1 T C 6: 87,030,847 (GRCm39) probably benign Het
Grin1 C T 2: 25,188,460 (GRCm39) D429N probably benign Het
Iqck T C 7: 118,499,111 (GRCm39) probably null Het
Itgb5 A G 16: 33,764,571 (GRCm39) I359V probably benign Het
Lemd3 T C 10: 120,814,988 (GRCm39) T82A probably benign Het
Lrrc74b A G 16: 17,376,254 (GRCm39) probably benign Het
Mitf A T 6: 97,980,869 (GRCm39) I246F possibly damaging Het
Msgn1 C T 12: 11,258,525 (GRCm39) R142Q probably damaging Het
Myh8 C A 11: 67,174,326 (GRCm39) probably benign Het
Nacad C A 11: 6,551,158 (GRCm39) V678L probably benign Het
Nomo1 A G 7: 45,725,596 (GRCm39) probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or1s2 T A 19: 13,758,556 (GRCm39) D191E probably damaging Het
Or4c100 A T 2: 88,356,572 (GRCm39) Y215F probably damaging Het
Or4l15 C A 14: 50,198,503 (GRCm39) V9L probably benign Het
Or6d13 A G 6: 116,518,226 (GRCm39) T271A probably benign Het
Pcdh15 T A 10: 74,338,598 (GRCm39) V1068E probably damaging Het
Plat A G 8: 23,262,273 (GRCm39) Y99C probably damaging Het
Potefam1 G A 2: 111,028,450 (GRCm39) T42I possibly damaging Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rbm25 T C 12: 83,707,150 (GRCm39) probably benign Het
Scaf11 T C 15: 96,316,570 (GRCm39) D998G probably damaging Het
Serpinb6a A G 13: 34,119,684 (GRCm39) probably benign Het
Spef2 T C 15: 9,687,899 (GRCm39) I507M probably benign Het
Srebf2 T A 15: 82,061,790 (GRCm39) probably null Het
Stimate C T 14: 30,584,842 (GRCm39) R56C probably damaging Het
Tert T C 13: 73,792,504 (GRCm39) C924R probably damaging Het
Usp19 T C 9: 108,371,000 (GRCm39) S221P probably benign Het
Xkr4 C T 1: 3,741,469 (GRCm39) A35T possibly damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Other mutations in Adprh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Adprh APN 16 38,270,578 (GRCm39) missense possibly damaging 0.65
IGL02012:Adprh APN 16 38,266,214 (GRCm39) missense possibly damaging 0.92
IGL02182:Adprh APN 16 38,267,838 (GRCm39) missense probably benign
IGL02862:Adprh APN 16 38,266,396 (GRCm39) missense probably benign
IGL02884:Adprh APN 16 38,266,396 (GRCm39) missense probably benign
IGL03065:Adprh APN 16 38,266,396 (GRCm39) missense probably benign
R1164:Adprh UTSW 16 38,270,702 (GRCm39) missense probably benign
R1542:Adprh UTSW 16 38,266,286 (GRCm39) missense probably damaging 0.99
R4591:Adprh UTSW 16 38,266,345 (GRCm39) missense probably benign
R4965:Adprh UTSW 16 38,266,142 (GRCm39) nonsense probably null
R5271:Adprh UTSW 16 38,266,416 (GRCm39) nonsense probably null
R5928:Adprh UTSW 16 38,267,746 (GRCm39) missense probably benign
R6383:Adprh UTSW 16 38,267,814 (GRCm39) missense probably damaging 1.00
R6469:Adprh UTSW 16 38,270,671 (GRCm39) missense probably benign 0.00
R6526:Adprh UTSW 16 38,267,638 (GRCm39) missense probably benign 0.00
R6978:Adprh UTSW 16 38,266,171 (GRCm39) missense probably damaging 1.00
R8143:Adprh UTSW 16 38,270,694 (GRCm39) missense probably benign 0.02
R8437:Adprh UTSW 16 38,266,449 (GRCm39) missense probably benign 0.03
R8482:Adprh UTSW 16 38,267,871 (GRCm39) missense probably damaging 1.00
R8846:Adprh UTSW 16 38,267,775 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTCAGGGCTACAGGGAAAGAAACC -3'
(R):5'- GAATTTTGGACGGCAACTCGGC -3'

Sequencing Primer
(F):5'- TACAGGGAAAGAAACCGCCAG -3'
(R):5'- GATCAGTTCTACATCGACGTGAG -3'
Posted On 2013-10-16