Incidental Mutation 'R5271:Adprh'
ID 400359
Institutional Source Beutler Lab
Gene Symbol Adprh
Ensembl Gene ENSMUSG00000002844
Gene Name ADP-ribosylarginine hydrolase
Synonyms Arh1
MMRRC Submission 042861-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.642) question?
Stock # R5271 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 38444030-38452703 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 38446054 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 242 (L242*)
Ref Sequence ENSEMBL: ENSMUSP00000002923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002923]
AlphaFold P54923
Predicted Effect probably null
Transcript: ENSMUST00000002923
AA Change: L242*
SMART Domains Protein: ENSMUSP00000002923
Gene: ENSMUSG00000002844
AA Change: L242*

Pfam:ADP_ribosyl_GH 11 331 1.1e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232145
Meta Mutation Damage Score 0.9706 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 97% (65/67)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,579,847 (GRCm38) K33R possibly damaging Het
4632415L05Rik C T 3: 19,895,147 (GRCm38) noncoding transcript Het
4930542C16Rik A C 14: 24,615,530 (GRCm38) noncoding transcript Het
Anapc1 G A 2: 128,685,985 (GRCm38) Q18* probably null Het
Bfar T C 16: 13,692,397 (GRCm38) probably benign Het
Bmp1 T C 14: 70,508,128 (GRCm38) I206V probably benign Het
Cc2d1b T A 4: 108,623,629 (GRCm38) probably benign Het
Clock A G 5: 76,241,954 (GRCm38) I349T probably damaging Het
Cox11 A G 11: 90,643,732 (GRCm38) Y60C probably damaging Het
Cyp1a1 G A 9: 57,702,838 (GRCm38) V512M probably benign Het
Dcdc2a T C 13: 25,187,688 (GRCm38) F311S probably benign Het
Dnase1l3 T C 14: 7,993,843 (GRCm38) D48G probably damaging Het
Engase G T 11: 118,481,397 (GRCm38) A172S probably damaging Het
F2 T C 2: 91,635,121 (GRCm38) probably benign Het
Galnt2l A G 8: 122,271,133 (GRCm38) probably benign Het
Gcc2 T C 10: 58,269,695 (GRCm38) V215A possibly damaging Het
Gm11677 C T 11: 111,724,711 (GRCm38) noncoding transcript Het
Gm20671 T C 5: 32,819,959 (GRCm38) K1817R possibly damaging Het
Gm20939 T A 17: 94,877,155 (GRCm38) Y410* probably null Het
Gm27013 T C 6: 130,676,915 (GRCm38) Y528C probably damaging Het
Il23r T C 6: 67,423,696 (GRCm38) H550R probably benign Het
Iqgap1 A T 7: 80,734,148 (GRCm38) V1056E probably damaging Het
Lrit3 T A 3: 129,788,301 (GRCm38) Y679F probably damaging Het
Megf8 A T 7: 25,341,706 (GRCm38) E1120V probably damaging Het
Mta1 A G 12: 113,131,957 (GRCm38) E518G probably damaging Het
Myo9a A G 9: 59,907,382 (GRCm38) I2200M probably damaging Het
Ncoa7 T C 10: 30,722,729 (GRCm38) H66R probably benign Het
Ncor1 A G 11: 62,340,545 (GRCm38) V812A probably damaging Het
Ndnf T C 6: 65,703,666 (GRCm38) Y310H possibly damaging Het
Ndst1 G A 18: 60,705,132 (GRCm38) T347I probably benign Het
Or10a3m T C 7: 108,714,217 (GRCm38) L276S probably damaging Het
Or4c15b A T 2: 89,282,953 (GRCm38) F60Y probably benign Het
Pcdhb10 C A 18: 37,413,169 (GRCm38) Q433K probably benign Het
Pcdhb18 G A 18: 37,491,596 (GRCm38) V660M possibly damaging Het
Pds5b T A 5: 150,723,353 (GRCm38) N202K possibly damaging Het
Pira12 A T 7: 3,897,567 (GRCm38) Y61* probably null Het
Polk T C 13: 96,483,539 (GRCm38) S718G probably benign Het
Ptpdc1 T C 13: 48,590,698 (GRCm38) D149G probably damaging Het
Rb1cc1 T A 1: 6,249,193 (GRCm38) C35* probably null Het
Samd9l C T 6: 3,376,156 (GRCm38) M368I probably benign Het
Shroom3 T C 5: 92,962,248 (GRCm38) M1739T probably damaging Het
Slc18a3 A G 14: 32,463,748 (GRCm38) L226P probably damaging Het
St7l A T 3: 104,868,060 (GRCm38) Y84F probably damaging Het
Svil A T 18: 5,062,329 (GRCm38) N392I probably benign Het
Syngr1 T A 15: 80,098,039 (GRCm38) M9K probably benign Het
Taar2 T C 10: 23,941,032 (GRCm38) S157P probably damaging Het
Tagap1 G T 17: 6,956,096 (GRCm38) Y400* probably null Het
Tbc1d8 T A 1: 39,373,767 (GRCm38) E976V probably damaging Het
Tmem163 G A 1: 127,491,552 (GRCm38) probably benign Het
Tnfaip2 A G 12: 111,448,460 (GRCm38) probably benign Het
Ttn C T 2: 76,706,517 (GRCm38) S34988N possibly damaging Het
Tubg1 T G 11: 101,120,238 (GRCm38) N15K probably damaging Het
Unc93a2 T C 17: 7,369,682 (GRCm38) N149S possibly damaging Het
Vmn2r129 G T 4: 156,334,397 (GRCm38) noncoding transcript Het
Zap70 T A 1: 36,781,365 (GRCm38) V547D probably damaging Het
Zfp146 G T 7: 30,162,475 (GRCm38) N47K probably benign Het
Znrf1 T G 8: 111,609,344 (GRCm38) M159R probably benign Het
Other mutations in Adprh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Adprh APN 16 38,450,216 (GRCm38) missense possibly damaging 0.65
IGL02012:Adprh APN 16 38,445,852 (GRCm38) missense possibly damaging 0.92
IGL02182:Adprh APN 16 38,447,476 (GRCm38) missense probably benign
IGL02862:Adprh APN 16 38,446,034 (GRCm38) missense probably benign
IGL02884:Adprh APN 16 38,446,034 (GRCm38) missense probably benign
IGL03065:Adprh APN 16 38,446,034 (GRCm38) missense probably benign
R0829:Adprh UTSW 16 38,445,788 (GRCm38) missense probably benign
R1164:Adprh UTSW 16 38,450,340 (GRCm38) missense probably benign
R1542:Adprh UTSW 16 38,445,924 (GRCm38) missense probably damaging 0.99
R4591:Adprh UTSW 16 38,445,983 (GRCm38) missense probably benign
R4965:Adprh UTSW 16 38,445,780 (GRCm38) nonsense probably null
R5928:Adprh UTSW 16 38,447,384 (GRCm38) missense probably benign
R6383:Adprh UTSW 16 38,447,452 (GRCm38) missense probably damaging 1.00
R6469:Adprh UTSW 16 38,450,309 (GRCm38) missense probably benign 0.00
R6526:Adprh UTSW 16 38,447,276 (GRCm38) missense probably benign 0.00
R6978:Adprh UTSW 16 38,445,809 (GRCm38) missense probably damaging 1.00
R8143:Adprh UTSW 16 38,450,332 (GRCm38) missense probably benign 0.02
R8437:Adprh UTSW 16 38,446,087 (GRCm38) missense probably benign 0.03
R8482:Adprh UTSW 16 38,447,509 (GRCm38) missense probably damaging 1.00
R8846:Adprh UTSW 16 38,447,413 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-07-06