Incidental Mutation 'R4615:Adprhl1'
ID 345027
Institutional Source Beutler Lab
Gene Symbol Adprhl1
Ensembl Gene ENSMUSG00000031448
Gene Name ADP-ribosylhydrolase like 1
Synonyms D330008N11Rik, Arh2
MMRRC Submission 041826-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4615 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 13271663-13304162 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 13292250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033825] [ENSMUST00000168498] [ENSMUST00000171619] [ENSMUST00000204916]
AlphaFold Q8BGK2
Predicted Effect probably null
Transcript: ENSMUST00000033825
SMART Domains Protein: ENSMUSP00000033825
Gene: ENSMUSG00000031448

DomainStartEndE-ValueType
Pfam:ADP_ribosyl_GH 6 327 1.2e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166438
Predicted Effect probably benign
Transcript: ENSMUST00000168498
SMART Domains Protein: ENSMUSP00000131920
Gene: ENSMUSG00000031448

DomainStartEndE-ValueType
Pfam:ADP_ribosyl_GH 69 196 9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171619
SMART Domains Protein: ENSMUSP00000132014
Gene: ENSMUSG00000031448

DomainStartEndE-ValueType
Pfam:ADP_ribosyl_GH 1 135 4.9e-18 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000204916
SMART Domains Protein: ENSMUSP00000145145
Gene: ENSMUSG00000031448

DomainStartEndE-ValueType
Pfam:ADP_ribosyl_GH 6 327 4.2e-49 PFAM
low complexity region 509 527 N/A INTRINSIC
low complexity region 955 969 N/A INTRINSIC
internal_repeat_1 1047 1150 1.82e-5 PROSPERO
internal_repeat_1 1157 1274 1.82e-5 PROSPERO
low complexity region 1275 1290 N/A INTRINSIC
Meta Mutation Damage Score 0.9495 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,369,493 (GRCm39) I363V probably benign Het
Abcc9 C G 6: 142,634,833 (GRCm39) A144P possibly damaging Het
Adgrv1 C T 13: 81,642,688 (GRCm39) probably null Het
Angptl3 A T 4: 98,919,598 (GRCm39) E119D probably benign Het
Atp8b1 T C 18: 64,686,170 (GRCm39) N671S probably null Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Carmil2 A G 8: 106,421,706 (GRCm39) D1019G possibly damaging Het
Cdh8 A T 8: 100,006,254 (GRCm39) I111K probably damaging Het
Cep120 T C 18: 53,847,913 (GRCm39) R649G probably damaging Het
Clptm1l A T 13: 73,755,857 (GRCm39) K158* probably null Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cnga1 A C 5: 72,762,117 (GRCm39) L466V probably damaging Het
Cpsf1 T C 15: 76,481,137 (GRCm39) T1240A possibly damaging Het
Cubn A G 2: 13,433,560 (GRCm39) S1117P probably damaging Het
Cyp2b9 T A 7: 25,900,550 (GRCm39) L396Q probably damaging Het
Cyp8b1 A T 9: 121,745,164 (GRCm39) L56* probably null Het
Dcbld2 A G 16: 58,276,457 (GRCm39) T458A probably benign Het
Dio2 G T 12: 90,696,595 (GRCm39) P131Q probably damaging Het
Dlg5 T C 14: 24,208,236 (GRCm39) Y990C probably damaging Het
Dsc3 T C 18: 20,104,545 (GRCm39) D594G possibly damaging Het
Dsp A G 13: 38,375,608 (GRCm39) E1131G probably damaging Het
Fdx1 A T 9: 51,859,945 (GRCm39) Y21* probably null Het
Gal3st4 A G 5: 138,264,525 (GRCm39) V158A probably damaging Het
Gm10269 T A 18: 20,815,820 (GRCm39) E67D probably benign Het
Gm5773 A G 3: 93,681,339 (GRCm39) H337R probably benign Het
Gng2 C T 14: 19,941,395 (GRCm39) V16I possibly damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Itprid2 A G 2: 79,492,726 (GRCm39) E1091G probably damaging Het
Lama2 C A 10: 26,857,520 (GRCm39) V3110F probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Ncapg A T 5: 45,844,741 (GRCm39) M579L probably benign Het
Oog3 A T 4: 143,884,899 (GRCm39) Y346N probably benign Het
Or10ak14 T C 4: 118,611,334 (GRCm39) T134A probably benign Het
Or14c39 T C 7: 86,343,936 (GRCm39) S91P probably damaging Het
Orm2 A G 4: 63,281,536 (GRCm39) D89G probably damaging Het
Pcdhb4 T A 18: 37,441,553 (GRCm39) S288T probably benign Het
Pcsk2 G T 2: 143,637,889 (GRCm39) C375F probably damaging Het
Pdcd10 T C 3: 75,428,398 (GRCm39) I138M probably damaging Het
Pde8a T C 7: 80,970,485 (GRCm39) W536R probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Plcl1 A T 1: 55,737,293 (GRCm39) N878I probably benign Het
Prkdc A T 16: 15,480,938 (GRCm39) D353V probably damaging Het
Psme4 C T 11: 30,784,287 (GRCm39) T954I probably benign Het
Ran A G 5: 129,099,162 (GRCm39) I115V probably benign Het
Reln A G 5: 22,177,870 (GRCm39) L1867P possibly damaging Het
S100a1 A G 3: 90,418,562 (GRCm39) V84A possibly damaging Het
Sall2 G A 14: 52,550,207 (GRCm39) P994L probably benign Het
Shtn1 A T 19: 59,010,648 (GRCm39) I273N probably benign Het
Slc17a9 T C 2: 180,373,699 (GRCm39) I40T probably benign Het
Slc29a2 T C 19: 5,079,292 (GRCm39) V305A probably damaging Het
Taar2 T A 10: 23,817,263 (GRCm39) F268I probably benign Het
Taf3 G A 2: 9,956,901 (GRCm39) T422I probably damaging Het
Tgs1 T C 4: 3,585,156 (GRCm39) F99L probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Ttn A G 2: 76,597,219 (GRCm39) I19898T probably damaging Het
Ulk1 G T 5: 110,936,912 (GRCm39) T3N probably damaging Het
Vars1 A T 17: 35,232,857 (GRCm39) K900N probably damaging Het
Vmn2r15 A G 5: 109,441,348 (GRCm39) V170A possibly damaging Het
Vmn2r53 A T 7: 12,316,229 (GRCm39) L530Q probably damaging Het
Zar1l G T 5: 150,441,528 (GRCm39) Q33K probably benign Het
Zdhhc16 T C 19: 41,932,122 (GRCm39) V358A possibly damaging Het
Other mutations in Adprhl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03268:Adprhl1 APN 8 13,296,170 (GRCm39) splice site probably benign
BB003:Adprhl1 UTSW 8 13,298,682 (GRCm39) missense probably damaging 1.00
BB004:Adprhl1 UTSW 8 13,298,682 (GRCm39) missense probably damaging 1.00
BB005:Adprhl1 UTSW 8 13,298,682 (GRCm39) missense probably damaging 1.00
BB006:Adprhl1 UTSW 8 13,298,682 (GRCm39) missense probably damaging 1.00
BB013:Adprhl1 UTSW 8 13,298,682 (GRCm39) missense probably damaging 1.00
BB014:Adprhl1 UTSW 8 13,298,682 (GRCm39) missense probably damaging 1.00
BB015:Adprhl1 UTSW 8 13,298,682 (GRCm39) missense probably damaging 1.00
BB016:Adprhl1 UTSW 8 13,298,682 (GRCm39) missense probably damaging 1.00
R0244:Adprhl1 UTSW 8 13,292,391 (GRCm39) splice site probably benign
R0636:Adprhl1 UTSW 8 13,298,702 (GRCm39) missense probably damaging 1.00
R1295:Adprhl1 UTSW 8 13,298,624 (GRCm39) missense probably damaging 1.00
R2111:Adprhl1 UTSW 8 13,298,694 (GRCm39) missense probably damaging 1.00
R2112:Adprhl1 UTSW 8 13,298,694 (GRCm39) missense probably damaging 1.00
R2184:Adprhl1 UTSW 8 13,292,559 (GRCm39) missense probably benign 0.00
R4411:Adprhl1 UTSW 8 13,296,114 (GRCm39) missense probably benign 0.16
R4412:Adprhl1 UTSW 8 13,296,114 (GRCm39) missense probably benign 0.16
R4413:Adprhl1 UTSW 8 13,296,114 (GRCm39) missense probably benign 0.16
R4618:Adprhl1 UTSW 8 13,292,250 (GRCm39) critical splice donor site probably null
R5016:Adprhl1 UTSW 8 13,274,889 (GRCm39) missense possibly damaging 0.88
R5058:Adprhl1 UTSW 8 13,292,625 (GRCm39) missense probably damaging 1.00
R5060:Adprhl1 UTSW 8 13,298,621 (GRCm39) missense possibly damaging 0.63
R5209:Adprhl1 UTSW 8 13,292,563 (GRCm39) nonsense probably null
R6103:Adprhl1 UTSW 8 13,272,055 (GRCm39) missense possibly damaging 0.91
R6158:Adprhl1 UTSW 8 13,274,977 (GRCm39) missense possibly damaging 0.93
R6221:Adprhl1 UTSW 8 13,275,634 (GRCm39) missense probably benign 0.01
R6971:Adprhl1 UTSW 8 13,273,476 (GRCm39) missense probably benign
R7087:Adprhl1 UTSW 8 13,271,856 (GRCm39) missense probably damaging 0.99
R7362:Adprhl1 UTSW 8 13,295,534 (GRCm39) missense probably damaging 1.00
R7404:Adprhl1 UTSW 8 13,275,118 (GRCm39) missense probably damaging 0.99
R7422:Adprhl1 UTSW 8 13,272,873 (GRCm39) missense probably benign 0.28
R7439:Adprhl1 UTSW 8 13,273,069 (GRCm39) missense probably benign 0.01
R7441:Adprhl1 UTSW 8 13,273,069 (GRCm39) missense probably benign 0.01
R7772:Adprhl1 UTSW 8 13,298,682 (GRCm39) missense probably damaging 1.00
R7773:Adprhl1 UTSW 8 13,298,682 (GRCm39) missense probably damaging 1.00
R7774:Adprhl1 UTSW 8 13,298,682 (GRCm39) missense probably damaging 1.00
R7776:Adprhl1 UTSW 8 13,298,682 (GRCm39) missense probably damaging 1.00
R7876:Adprhl1 UTSW 8 13,273,509 (GRCm39) missense probably benign 0.00
R7877:Adprhl1 UTSW 8 13,275,316 (GRCm39) nonsense probably null
R7926:Adprhl1 UTSW 8 13,298,682 (GRCm39) missense probably damaging 1.00
R7927:Adprhl1 UTSW 8 13,298,682 (GRCm39) missense probably damaging 1.00
R7928:Adprhl1 UTSW 8 13,298,682 (GRCm39) missense probably damaging 1.00
R7929:Adprhl1 UTSW 8 13,298,682 (GRCm39) missense probably damaging 1.00
R7944:Adprhl1 UTSW 8 13,271,929 (GRCm39) missense probably damaging 0.99
R7945:Adprhl1 UTSW 8 13,271,929 (GRCm39) missense probably damaging 0.99
R7946:Adprhl1 UTSW 8 13,298,682 (GRCm39) missense probably damaging 1.00
R7947:Adprhl1 UTSW 8 13,298,682 (GRCm39) missense probably damaging 1.00
R7949:Adprhl1 UTSW 8 13,274,225 (GRCm39) missense possibly damaging 0.93
R8155:Adprhl1 UTSW 8 13,271,764 (GRCm39) missense probably damaging 0.99
R8182:Adprhl1 UTSW 8 13,272,774 (GRCm39) missense probably benign 0.07
R8753:Adprhl1 UTSW 8 13,272,118 (GRCm39) missense possibly damaging 0.91
R8799:Adprhl1 UTSW 8 13,272,474 (GRCm39) missense probably benign 0.00
R8893:Adprhl1 UTSW 8 13,274,511 (GRCm39) missense probably benign 0.11
R9022:Adprhl1 UTSW 8 13,274,352 (GRCm39) missense probably benign 0.00
R9161:Adprhl1 UTSW 8 13,272,270 (GRCm39) missense probably damaging 0.99
R9227:Adprhl1 UTSW 8 13,271,974 (GRCm39) missense probably benign 0.27
R9228:Adprhl1 UTSW 8 13,275,279 (GRCm39) missense probably benign
R9283:Adprhl1 UTSW 8 13,273,540 (GRCm39) missense probably benign
R9426:Adprhl1 UTSW 8 13,274,034 (GRCm39) missense possibly damaging 0.93
R9648:Adprhl1 UTSW 8 13,273,245 (GRCm39) missense probably benign 0.40
Z1176:Adprhl1 UTSW 8 13,275,613 (GRCm39) missense probably benign 0.01
Z1177:Adprhl1 UTSW 8 13,295,476 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- TCACCTGTGAGACTTTGATGTG -3'
(R):5'- TCTTGGACTCACAGTGACCC -3'

Sequencing Primer
(F):5'- AACTGTATCTGTGGCCTACATG -3'
(R):5'- ACTCACAGTGACCCGTGGTTC -3'
Posted On 2015-09-25