Incidental Mutation 'R6469:Adprh'
ID 520300
Institutional Source Beutler Lab
Gene Symbol Adprh
Ensembl Gene ENSMUSG00000002844
Gene Name ADP-ribosylarginine hydrolase
Synonyms Arh1
MMRRC Submission 044602-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.611) question?
Stock # R6469 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 38265761-38273051 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38270671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 45 (M45V)
Ref Sequence ENSEMBL: ENSMUSP00000002923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002923]
AlphaFold P54923
Predicted Effect probably benign
Transcript: ENSMUST00000002923
AA Change: M45V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000002923
Gene: ENSMUSG00000002844
AA Change: M45V

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
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.3%
Validation Efficiency 100% (43/43)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T G 3: 137,772,736 (GRCm39) S642A probably damaging Het
Aadacl2 A T 3: 59,932,210 (GRCm39) T242S probably benign Het
Akr1c13 T C 13: 4,246,511 (GRCm39) probably null Het
Ap3d1 A C 10: 80,547,992 (GRCm39) V900G probably benign Het
Bak1 G A 17: 27,240,293 (GRCm39) R125C probably damaging Het
Bmpr1b T C 3: 141,562,222 (GRCm39) T322A possibly damaging Het
Camsap3 T A 8: 3,653,941 (GRCm39) L521Q possibly damaging Het
Col6a6 A T 9: 105,575,890 (GRCm39) F2157I probably damaging Het
Dcun1d4 G A 5: 73,691,957 (GRCm39) M155I probably damaging Het
Diaph3 T C 14: 86,893,974 (GRCm39) S12G possibly damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fgb A T 3: 82,953,449 (GRCm39) L107* probably null Het
Ganab T C 19: 8,879,996 (GRCm39) probably null Het
Gba1 C T 3: 89,111,388 (GRCm39) P51L probably benign Het
Glb1l2 T C 9: 26,707,828 (GRCm39) D60G probably benign Het
Idh3b AG AGCACCACAACTG 2: 130,121,593 (GRCm39) probably null Het
Itih2 A G 2: 10,128,224 (GRCm39) V159A possibly damaging Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Lrch1 C T 14: 75,054,525 (GRCm39) R323Q probably damaging Het
Lrrc30 T C 17: 67,938,860 (GRCm39) N240S probably benign Het
Mrgpra9 T C 7: 46,884,854 (GRCm39) Y271C probably benign Het
Ncor1 T C 11: 62,234,128 (GRCm39) H682R probably damaging Het
Or14j4 A T 17: 37,921,204 (GRCm39) V146E probably damaging Het
Pax9 C A 12: 56,743,648 (GRCm39) F98L probably damaging Het
Phlpp1 G A 1: 106,214,833 (GRCm39) R585Q probably damaging Het
Prkdc A G 16: 15,612,939 (GRCm39) T3166A probably benign Het
Prr11 T A 11: 86,988,003 (GRCm39) Q300L possibly damaging Het
Rad50 T A 11: 53,575,062 (GRCm39) E620D probably benign Het
Rpl3 A T 15: 79,967,546 (GRCm39) probably null Het
Sacs G T 14: 61,428,697 (GRCm39) G252V probably damaging Het
Serpina3i T A 12: 104,232,776 (GRCm39) V227E probably damaging Het
Smap2 GACTCTAC GAC 4: 120,830,282 (GRCm39) probably benign Het
Snx19 T C 9: 30,339,039 (GRCm39) V59A possibly damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tcstv2c T A 13: 120,616,349 (GRCm39) W63R probably damaging Het
Tsc1 G A 2: 28,561,898 (GRCm39) probably null Het
Vmn2r61 C T 7: 41,915,283 (GRCm39) Q77* probably null Het
Wdr72 A G 9: 74,120,643 (GRCm39) H954R probably benign Het
Zbtb21 T C 16: 97,757,972 (GRCm39) M20V probably benign Het
Zkscan16 A T 4: 58,956,483 (GRCm39) D255V 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
R0829:Adprh UTSW 16 38,266,150 (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
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'- TCCTCCTACGAGTGACTAATAGAC -3'
(R):5'- AGTCTCCGTTGCCCCATAAG -3'

Sequencing Primer
(F):5'- AGAGACTGGCACTCACCTG -3'
(R):5'- TAAGCCCGCCTGTGCCAAG -3'
Posted On 2018-06-06