Incidental Mutation 'R6221:Adprhl1'
ID 504028
Institutional Source Beutler Lab
Gene Symbol Adprhl1
Ensembl Gene ENSMUSG00000031448
Gene Name ADP-ribosylhydrolase like 1
Synonyms D330008N11Rik, Arh2
MMRRC Submission 044432-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6221 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 13271663-13304162 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13275634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 375 (I375V)
Ref Sequence ENSEMBL: ENSMUSP00000145145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000204916]
AlphaFold Q8BGK2
Predicted Effect probably benign
Transcript: ENSMUST00000204916
AA Change: I375V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000145145
Gene: ENSMUSG00000031448
AA Change: I375V

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: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 99% (66/67)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,824,874 (GRCm39) M108V probably benign Het
Adgrl1 C T 8: 84,664,316 (GRCm39) Q1236* probably null Het
Bsn A G 9: 107,982,765 (GRCm39) S3663P unknown Het
Cfap44 A T 16: 44,257,549 (GRCm39) Q1028L probably benign Het
Cftr A C 6: 18,282,500 (GRCm39) T1067P probably benign Het
Col1a2 T C 6: 4,539,490 (GRCm39) S1253P unknown Het
Dkk3 A G 7: 111,720,853 (GRCm39) Y158H probably damaging Het
Dmxl1 A G 18: 50,004,799 (GRCm39) Y949C probably damaging Het
E130311K13Rik T C 3: 63,823,152 (GRCm39) Y164C probably benign Het
Evx1 T A 6: 52,293,768 (GRCm39) V312E probably damaging Het
Fam240b T C 13: 64,629,591 (GRCm39) N75S probably benign Het
Fat2 A G 11: 55,186,898 (GRCm39) probably null Het
Fbn1 G T 2: 125,162,841 (GRCm39) D2148E probably benign Het
Fzd4 A G 7: 89,054,100 (GRCm39) H69R probably damaging Het
Fzd6 T C 15: 38,894,239 (GRCm39) V135A probably benign Het
Gimap8 T C 6: 48,635,876 (GRCm39) L547S probably damaging Het
Gnrhr G A 5: 86,333,262 (GRCm39) Q203* probably null Het
Gpaa1 T G 15: 76,218,032 (GRCm39) V341G probably benign Het
Grik3 T A 4: 125,598,916 (GRCm39) L828Q probably damaging Het
Heatr5b T C 17: 79,074,383 (GRCm39) N1568S probably benign Het
Hpf1 T A 8: 61,346,808 (GRCm39) V41E probably damaging Het
Hsd3b1 A T 3: 98,760,472 (GRCm39) M173K probably benign Het
Hsd3b6 A G 3: 98,713,849 (GRCm39) I150T probably benign Het
Ica1 C G 6: 8,644,181 (GRCm39) L369F possibly damaging Het
Inf2 T G 12: 112,570,179 (GRCm39) S293A possibly damaging Het
Klra10 T C 6: 130,246,235 (GRCm39) T247A probably benign Het
Kpna1 G A 16: 35,841,058 (GRCm39) G91D probably benign Het
Ldlrap1 C T 4: 134,484,671 (GRCm39) E108K probably damaging Het
Ltb4r2 C T 14: 55,999,540 (GRCm39) R54W probably damaging Het
Mki67 A G 7: 135,299,643 (GRCm39) F1797S probably benign Het
Mlh3 C A 12: 85,315,192 (GRCm39) Q331H possibly damaging Het
Nol11 G T 11: 107,062,442 (GRCm39) T598K possibly damaging Het
Odad1 T C 7: 45,596,903 (GRCm39) L410P probably damaging Het
Or5b124 T A 19: 13,610,830 (GRCm39) Y118* probably null Het
Oxct2b T C 4: 123,010,601 (GRCm39) Y174H probably damaging Het
Pakap C T 4: 57,855,618 (GRCm39) Q559* probably null Het
Pclo G A 5: 14,725,327 (GRCm39) R1395Q unknown Het
Ppara A G 15: 85,661,881 (GRCm39) I41V probably benign Het
Ppip5k2 A T 1: 97,657,753 (GRCm39) I766K probably damaging Het
Ppm1j A G 3: 104,693,092 (GRCm39) N483S possibly damaging Het
Prex2 T C 1: 11,336,236 (GRCm39) I1478T probably benign Het
Ror2 T C 13: 53,267,253 (GRCm39) Y394C probably damaging Het
Rsl1d1 A G 16: 11,019,175 (GRCm39) V121A probably damaging Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Slc15a1 T C 14: 121,702,316 (GRCm39) Q610R probably null Het
Slc1a6 A G 10: 78,635,910 (GRCm39) E325G probably damaging Het
Slc7a13 A G 4: 19,839,305 (GRCm39) I303V probably benign Het
Smc3 T A 19: 53,630,362 (GRCm39) V1123E probably damaging Het
Smco1 G A 16: 32,092,023 (GRCm39) V34I probably benign Het
Spag1 A G 15: 36,197,949 (GRCm39) R304G probably benign Het
Spata31f1e A T 4: 42,793,153 (GRCm39) N326K probably benign Het
Spta1 A G 1: 174,009,342 (GRCm39) D293G probably damaging Het
Sspo C A 6: 48,440,639 (GRCm39) P1751Q probably damaging Het
Syt14 A T 1: 192,612,908 (GRCm39) Y631N probably damaging Het
Taar3 A G 10: 23,825,970 (GRCm39) N172S possibly damaging Het
Tank A G 2: 61,480,427 (GRCm39) E321G probably damaging Het
Tcstv5 T G 13: 120,411,534 (GRCm39) H24P probably damaging Het
Thbs1 C A 2: 117,950,478 (GRCm39) L704M probably damaging Het
Tmem116 C T 5: 121,629,171 (GRCm39) T188M probably benign Het
Togaram1 A T 12: 65,013,320 (GRCm39) E190D probably damaging Het
Traf1 A C 2: 34,838,313 (GRCm39) V175G probably benign Het
Trib3 A T 2: 152,180,528 (GRCm39) C222S probably damaging Het
Tsen34 T A 7: 3,698,543 (GRCm39) I229N probably damaging Het
Ttc28 A G 5: 111,419,114 (GRCm39) D1370G probably benign Het
Ugt1a5 G A 1: 88,093,964 (GRCm39) R64H probably benign Het
Vdac2 G A 14: 21,895,246 (GRCm39) G265R possibly damaging Het
Vdac3 A G 8: 23,078,759 (GRCm39) V17A possibly damaging Het
Yif1b C T 7: 28,945,207 (GRCm39) T220I possibly damaging Het
Zfp846 T G 9: 20,504,591 (GRCm39) H150Q possibly damaging Het
Zwilch A T 9: 64,068,665 (GRCm39) H181Q probably 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
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
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'- GTAGAAGCTGGAACCGTGTG -3'
(R):5'- TCCTGAGAATGAGGCACAGG -3'

Sequencing Primer
(F):5'- GTGTGGGTCTCCGGCCC -3'
(R):5'- GAAAATGCCCCACAGGTTTGTTTG -3'
Posted On 2018-02-28