Incidental Mutation 'IGL02012:Adprh'
ID183394
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adprh
Ensembl Gene ENSMUSG00000002844
Gene NameADP-ribosylarginine hydrolase
SynonymsArh1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.302) question?
Stock #IGL02012
Quality Score
Status
Chromosome16
Chromosomal Location38444030-38452703 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 38445852 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 309 (D309E)
Ref Sequence ENSEMBL: ENSMUSP00000002923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002923]
Predicted Effect possibly damaging
Transcript: ENSMUST00000002923
AA Change: D309E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000002923
Gene: ENSMUSG00000002844
AA Change: D309E

DomainStartEndE-ValueType
Pfam:ADP_ribosyl_GH 11 331 1.1e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232145
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,674,861 N1296S probably damaging Het
AF529169 T C 9: 89,601,438 I635M probably benign Het
Armc1 A T 3: 19,157,537 C40S possibly damaging Het
BC100530 T G 16: 36,367,440 D21A possibly damaging Het
Cops8 T C 1: 90,612,234 V204A probably damaging Het
Dchs1 T G 7: 105,764,297 T1104P probably damaging Het
Ddi2 A T 4: 141,708,218 probably null Het
Ehbp1 G A 11: 22,101,218 P420S probably damaging Het
Eif1ad T G 19: 5,368,659 V80G probably damaging Het
Fat1 T C 8: 45,027,540 Y3004H possibly damaging Het
Fbxo11 C T 17: 88,012,651 R211Q probably benign Het
Foxf2 A G 13: 31,626,516 N146S probably damaging Het
Fsd2 A T 7: 81,549,914 N334K probably benign Het
Gm45234 C A 6: 124,746,048 probably benign Het
Itpr3 T A 17: 27,104,095 F1157I probably benign Het
Jph1 C A 1: 17,097,414 W64L probably benign Het
Lmo7 T C 14: 101,888,716 probably benign Het
Man2a1 T C 17: 64,666,899 I390T probably damaging Het
Marveld3 C T 8: 109,948,132 V351M probably damaging Het
Mycn A G 12: 12,937,103 L431P probably damaging Het
Naip5 T C 13: 100,223,339 N463S probably benign Het
Npnt A G 3: 132,908,397 C182R probably damaging Het
Obscn A G 11: 59,076,507 V3068A probably benign Het
Pggt1b A T 18: 46,262,955 S88T probably benign Het
Prx A G 7: 27,517,901 E748G probably damaging Het
Scrn3 T C 2: 73,318,429 probably null Het
Trmt10b G A 4: 45,315,045 R292H probably benign Het
Tuft1 A G 3: 94,622,155 probably benign Het
Wfdc8 T C 2: 164,603,150 probably benign Het
Other mutations in Adprh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Adprh APN 16 38450216 missense possibly damaging 0.65
IGL02182:Adprh APN 16 38447476 missense probably benign
IGL02862:Adprh APN 16 38446034 missense probably benign
IGL02884:Adprh APN 16 38446034 missense probably benign
IGL03065:Adprh APN 16 38446034 missense probably benign
R0829:Adprh UTSW 16 38445788 missense probably benign
R1164:Adprh UTSW 16 38450340 missense probably benign
R1542:Adprh UTSW 16 38445924 missense probably damaging 0.99
R4591:Adprh UTSW 16 38445983 missense probably benign
R4965:Adprh UTSW 16 38445780 nonsense probably null
R5271:Adprh UTSW 16 38446054 nonsense probably null
R5928:Adprh UTSW 16 38447384 missense probably benign
R6383:Adprh UTSW 16 38447452 missense probably damaging 1.00
R6469:Adprh UTSW 16 38450309 missense probably benign 0.00
R6526:Adprh UTSW 16 38447276 missense probably benign 0.00
R6978:Adprh UTSW 16 38445809 missense probably damaging 1.00
Posted On2014-05-07