Incidental Mutation 'R8437:Adprh'
ID 654066
Institutional Source Beutler Lab
Gene Symbol Adprh
Ensembl Gene ENSMUSG00000002844
Gene Name ADP-ribosylarginine hydrolase
Synonyms Arh1
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.535) question?
Stock # R8437 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 38444030-38452703 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38446087 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 231 (E231G)
Ref Sequence ENSEMBL: ENSMUSP00000002923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002923]
AlphaFold P54923
Predicted Effect probably benign
Transcript: ENSMUST00000002923
AA Change: E231G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000002923
Gene: ENSMUSG00000002844
AA Change: E231G

DomainStartEndE-ValueType
Pfam:ADP_ribosyl_GH 11 331 1.1e-57 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 T C 7: 79,348,430 Y237H probably damaging Het
Anks6 T C 4: 47,030,705 S631G probably benign Het
Bpifa5 T A 2: 154,165,606 L156H probably damaging Het
Bsn G A 9: 108,111,452 A2367V probably benign Het
C8b T C 4: 104,786,843 Y236H probably damaging Het
Celf2 C T 2: 6,547,145 G508S probably damaging Het
Clca1 T C 3: 145,005,061 T794A probably benign Het
Col27a1 T A 4: 63,319,464 probably benign Het
Cyp2j12 C T 4: 96,099,662 C497Y probably damaging Het
Dnmt3l T C 10: 78,052,768 I168T possibly damaging Het
Dtna C T 18: 23,590,341 Q201* probably null Het
Fetub T C 16: 22,934,235 S146P possibly damaging Het
Gak T G 5: 108,609,406 E242D probably benign Het
Gfpt2 T A 11: 49,804,867 probably benign Het
Ginm1 C T 10: 7,770,366 C290Y probably benign Het
Hepacam T C 9: 37,384,710 S386P probably damaging Het
Hmcn2 C A 2: 31,391,076 L1867I probably benign Het
Hnrnpa3 T G 2: 75,662,675 S220A unknown Het
Hydin A G 8: 110,462,735 E1257G probably damaging Het
Ier3ip1 C T 18: 76,930,178 A18V probably damaging Het
Ift140 T A 17: 25,094,677 C1361S probably damaging Het
Il16 T C 7: 83,652,143 Q955R probably damaging Het
Itpr3 T G 17: 27,107,303 M1349R probably damaging Het
Kcnk4 C T 19: 6,926,234 V316I probably benign Het
March6 A G 15: 31,482,549 I501T possibly damaging Het
Msl2 T A 9: 101,100,968 S180R probably benign Het
Muc16 C T 9: 18,657,924 V1100I unknown Het
Nbas T C 12: 13,566,250 V2263A possibly damaging Het
Olfr1416 C T 1: 92,480,465 S52N probably benign Het
Olfr853 C T 9: 19,537,537 R131H probably benign Het
Pdilt T G 7: 119,514,886 I130L possibly damaging Het
Phldb3 A G 7: 24,628,950 T640A probably damaging Het
Pole2 G C 12: 69,204,187 Y467* probably null Het
Pxdn C T 12: 30,002,044 T740M probably damaging Het
Rabac1 T C 7: 24,972,247 I83V probably damaging Het
Rrp7a T C 15: 83,117,572 Q245R probably damaging Het
Sae1 A G 7: 16,370,354 V110A probably damaging Het
Sema3c G T 5: 17,662,938 V116F probably damaging Het
Serpina3i A G 12: 104,265,704 Y200C probably damaging Het
Slc25a45 C T 19: 5,880,107 T35M probably benign Het
Speer4b C T 5: 27,498,820 R107Q probably benign Het
Sycp2 T C 2: 178,364,858 T843A probably damaging Het
Tecta T A 9: 42,332,560 I2004F probably damaging Het
Tma16 T C 8: 66,476,796 D182G possibly damaging Het
Topaz1 T A 9: 122,781,362 Y1167* probably null Het
Uck1 C A 2: 32,260,141 probably benign Het
Usp25 A G 16: 77,033,912 T19A probably damaging Het
Vpreb2 G A 16: 17,980,889 G80S probably damaging Het
Wdfy4 A G 14: 33,076,375 C2025R Het
Zyg11a T A 4: 108,217,906 H6L probably damaging 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
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
R8143:Adprh UTSW 16 38450332 missense probably benign 0.02
R8482:Adprh UTSW 16 38447509 missense probably damaging 1.00
R8846:Adprh UTSW 16 38447413 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATCACTGTCTCCACCGTGG -3'
(R):5'- AAAACTATATGGATGGCTTGTGGAG -3'

Sequencing Primer
(F):5'- CACCGTGGAAGAAGGCTCTG -3'
(R):5'- ATGGATGGCTTGTGGAGTTAATTTAG -3'
Posted On 2020-10-20