Incidental Mutation 'IGL02182:Adprh'
ID283281
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 #IGL02182
Quality Score
Status
Chromosome16
Chromosomal Location38444030-38452703 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 38447476 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 149 (H149R)
Ref Sequence ENSEMBL: ENSMUSP00000002923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002923]
Predicted Effect probably benign
Transcript: ENSMUST00000002923
AA Change: H149R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002923
Gene: ENSMUSG00000002844
AA Change: H149R

DomainStartEndE-ValueType
Pfam:ADP_ribosyl_GH 11 331 1.1e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231660
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017D01Rik A T 19: 11,097,072 probably benign Het
Adam34 T A 8: 43,651,753 N285I probably benign Het
Ahctf1 A G 1: 179,753,078 V1853A probably benign Het
Ank1 T C 8: 23,113,852 V905A possibly damaging Het
Atp10b T G 11: 43,248,947 L1234R probably damaging Het
Bco1 G A 8: 117,133,066 A503T probably damaging Het
Cpz T A 5: 35,517,722 Y61F probably damaging Het
Dnah8 T A 17: 30,794,763 M3826K possibly damaging Het
Dtd2 A G 12: 51,999,709 S116P probably benign Het
Efcab1 T A 16: 14,920,795 D163E probably damaging Het
Eml5 T C 12: 98,802,322 D1498G probably damaging Het
Fat4 T C 3: 38,890,546 V1196A probably damaging Het
Gm15557 T C 2: 155,941,817 D405G probably damaging Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Mfsd11 T A 11: 116,873,914 V388E possibly damaging Het
Olfr512 A G 7: 108,713,868 T160A probably benign Het
Olfr547 A G 7: 102,535,568 I274V probably benign Het
Pik3cg A T 12: 32,205,273 D238E possibly damaging Het
Plcb3 T C 19: 6,969,620 H9R probably benign Het
Ppp3cc A C 14: 70,225,024 V388G probably benign Het
Ranbp2 T A 10: 58,485,760 C2626* probably null Het
Resp18 T C 1: 75,273,971 T155A probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Scarb2 C T 5: 92,454,054 S327N probably damaging Het
Secisbp2l T A 2: 125,747,577 I684F probably damaging Het
Slc39a6 T C 18: 24,601,290 D114G probably damaging Het
Smap1 T A 1: 23,859,099 E85D probably damaging Het
Tas2r121 T A 6: 132,700,170 I280F probably damaging Het
Uhrf2 T C 19: 30,039,209 V86A probably benign Het
Vip A T 10: 5,643,561 Y91F probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zfp618 G A 4: 63,095,561 probably benign Het
Other mutations in Adprh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Adprh APN 16 38450216 missense possibly damaging 0.65
IGL02012:Adprh APN 16 38445852 missense possibly damaging 0.92
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 On2015-04-16