Incidental Mutation 'R7441:Adprhl1'
ID 576952
Institutional Source Beutler Lab
Gene Symbol Adprhl1
Ensembl Gene ENSMUSG00000031448
Gene Name ADP-ribosylhydrolase like 1
Synonyms D330008N11Rik, Arh2
MMRRC Submission 045517-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7441 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 13271663-13304162 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 13273069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1230 (V1230I)
Ref Sequence ENSEMBL: ENSMUSP00000145145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000204916]
AlphaFold Q8BGK2
Predicted Effect probably benign
Transcript: ENSMUST00000204916
AA Change: V1230I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000145145
Gene: ENSMUSG00000031448
AA Change: V1230I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A C 2: 151,314,845 (GRCm39) S278A possibly damaging Het
Adamts20 T C 15: 94,251,554 (GRCm39) D411G probably damaging Het
Adgrl3 A G 5: 81,871,987 (GRCm39) I894V possibly damaging Het
Agpat1 T A 17: 34,829,883 (GRCm39) Y77N probably damaging Het
Anpep A G 7: 79,477,392 (GRCm39) V725A possibly damaging Het
Apc T A 18: 34,445,126 (GRCm39) I674K probably damaging Het
Arhgef2 A G 3: 88,551,262 (GRCm39) R808G probably damaging Het
Asap1 A G 15: 64,002,105 (GRCm39) V402A probably damaging Het
Aspg T C 12: 112,091,255 (GRCm39) V479A possibly damaging Het
B3galnt2 G A 13: 14,169,070 (GRCm39) V368M probably benign Het
Bahcc1 T C 11: 120,177,132 (GRCm39) S2007P probably damaging Het
Cyfip2 A T 11: 46,087,254 (GRCm39) I1212N possibly damaging Het
Dnajc16 A T 4: 141,491,124 (GRCm39) D675E probably damaging Het
Dram2 T C 3: 106,462,503 (GRCm39) F4L probably damaging Het
Dsp A G 13: 38,379,425 (GRCm39) T2057A probably benign Het
Dync1h1 T G 12: 110,602,887 (GRCm39) L2176R probably damaging Het
Efhb A T 17: 53,708,549 (GRCm39) I707N possibly damaging Het
Eif2ak4 A G 2: 118,302,377 (GRCm39) T1555A probably benign Het
Erc1 G A 6: 119,801,912 (GRCm39) T35I possibly damaging Het
Esr2 C A 12: 76,188,168 (GRCm39) M363I probably benign Het
Etl4 A T 2: 20,749,000 (GRCm39) N446I possibly damaging Het
Evpl T A 11: 116,113,782 (GRCm39) K1303* probably null Het
Fam135b A T 15: 71,335,529 (GRCm39) V555E probably damaging Het
Fam186b A G 15: 99,177,970 (GRCm39) L452P probably benign Het
Fmn1 A T 2: 113,271,956 (GRCm39) Q108L unknown Het
Gcc2 A G 10: 58,092,723 (GRCm39) T48A probably benign Het
Gm6619 T G 6: 131,467,354 (GRCm39) I73S possibly damaging Het
Gm8267 T A 14: 44,960,397 (GRCm39) D116V probably damaging Het
Gtf3c3 G A 1: 54,459,607 (GRCm39) T385M probably benign Het
Iqgap2 C A 13: 95,764,584 (GRCm39) M1553I probably benign Het
Kcnk1 G T 8: 126,722,307 (GRCm39) G37C probably damaging Het
Kifc3 T C 8: 95,864,615 (GRCm39) M32V probably benign Het
Krt81 C A 15: 101,359,251 (GRCm39) K222N possibly damaging Het
Lrrc63 A G 14: 75,363,697 (GRCm39) S145P possibly damaging Het
Mybbp1a T A 11: 72,342,101 (GRCm39) V1279E probably benign Het
Niban3 A G 8: 72,052,808 (GRCm39) D94G probably benign Het
Or11g26 A T 14: 50,752,853 (GRCm39) Y64F probably damaging Het
Or8u9 T A 2: 86,001,354 (GRCm39) D269V probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Pramel12 A G 4: 143,145,410 (GRCm39) Y293C probably benign Het
Ptpn18 T C 1: 34,512,416 (GRCm39) V407A probably benign Het
Ptpn9 T A 9: 56,934,717 (GRCm39) Y160* probably null Het
Ptprj T C 2: 90,280,163 (GRCm39) K1045R possibly damaging Het
Rundc3a G T 11: 102,290,872 (GRCm39) probably null Het
Scn11a C T 9: 119,587,692 (GRCm39) V1351I probably benign Het
Slc26a9 A G 1: 131,690,556 (GRCm39) Y520C probably damaging Het
Spata20 G A 11: 94,374,867 (GRCm39) A245V probably benign Het
Steap3 A C 1: 120,169,248 (GRCm39) F350V probably benign Het
Swt1 A T 1: 151,286,815 (GRCm39) F226I probably benign Het
Taar7f A G 10: 23,925,885 (GRCm39) T160A possibly damaging Het
Timd5 G A 11: 46,419,382 (GRCm39) W66* probably null Het
Upf2 A T 2: 6,023,743 (GRCm39) I698F unknown Het
Vmn2r84 T C 10: 130,227,982 (GRCm39) T85A possibly damaging Het
Zfp426 T C 9: 20,382,147 (GRCm39) E280G possibly damaging Het
Zfp810 C A 9: 22,190,568 (GRCm39) E78* probably null Het
Zfp937 GTGATAAGGCATTTGCACAAAACAGTCATCTCCTAACACATAAAAGAACACAT G 2: 150,080,630 (GRCm39) probably null 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
R4615:Adprhl1 UTSW 8 13,292,250 (GRCm39) critical splice donor site probably null
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
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'- ACTCGCATGCTTTGAGGAC -3'
(R):5'- CGGAGCCCAGAATATTGACC -3'

Sequencing Primer
(F):5'- CTTTGAGGACCTGCTTGATACCAAAG -3'
(R):5'- TATTAAACTGACGACACTGCGG -3'
Posted On 2019-10-07