Incidental Mutation 'R7773:Adprhl1'
ID 598714
Institutional Source Beutler Lab
Gene Symbol Adprhl1
Ensembl Gene ENSMUSG00000031448
Gene Name ADP-ribosylhydrolase like 1
Synonyms D330008N11Rik, Arh2
MMRRC Submission 045829-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7773 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 13271663-13304162 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 13298682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 83 (V83I)
Ref Sequence ENSEMBL: ENSMUSP00000033825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033825] [ENSMUST00000168498] [ENSMUST00000171619] [ENSMUST00000204916]
AlphaFold Q8BGK2
Predicted Effect probably damaging
Transcript: ENSMUST00000033825
AA Change: V83I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033825
Gene: ENSMUSG00000031448
AA Change: V83I

DomainStartEndE-ValueType
Pfam:ADP_ribosyl_GH 6 327 1.2e-53 PFAM
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 damaging
Transcript: ENSMUST00000171619
AA Change: V2I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132014
Gene: ENSMUSG00000031448
AA Change: V2I

DomainStartEndE-ValueType
Pfam:ADP_ribosyl_GH 1 135 4.9e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204916
AA Change: V83I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000145145
Gene: ENSMUSG00000031448
AA Change: V83I

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 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (55/56)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,206,180 (GRCm39) I336T probably benign Het
4930519P11Rik T C 2: 154,455,107 (GRCm39) Y84C unknown Het
4930568D16Rik C T 2: 35,244,606 (GRCm39) G249S probably damaging Het
AAdacl4fm3 A T 4: 144,430,047 (GRCm39) L314Q probably damaging Het
Agbl1 T A 7: 76,348,585 (GRCm39) V894E unknown Het
Amigo3 T C 9: 107,931,867 (GRCm39) L430P probably benign Het
Aoc1 A G 6: 48,883,146 (GRCm39) I341V probably benign Het
Bod1l A G 5: 41,990,055 (GRCm39) S223P probably benign Het
Cacnb3 T C 15: 98,537,819 (GRCm39) probably null Het
Ccdc63 G T 5: 122,247,335 (GRCm39) N503K probably damaging Het
Ccdc83 T A 7: 89,879,120 (GRCm39) I225F probably damaging Het
Cd200r1 A G 16: 44,610,050 (GRCm39) T90A possibly damaging Het
Cd8a A G 6: 71,350,799 (GRCm39) N88S probably benign Het
Cep170 A G 1: 176,567,642 (GRCm39) V152A Het
Chid1 T C 7: 141,109,518 (GRCm39) M123V probably benign Het
Cnnm4 T C 1: 36,538,603 (GRCm39) V595A probably benign Het
Coro7 A G 16: 4,449,870 (GRCm39) L630P probably damaging Het
Cpvl A G 6: 53,908,890 (GRCm39) probably null Het
Edem3 A T 1: 151,687,347 (GRCm39) K762* probably null Het
Elp6 T A 9: 110,141,627 (GRCm39) probably null Het
Emilin3 A T 2: 160,752,718 (GRCm39) Y77* probably null Het
Fam234b T A 6: 135,220,912 (GRCm39) I641N probably benign Het
Farsa T C 8: 85,590,781 (GRCm39) probably null Het
Foxf2 T C 13: 31,811,182 (GRCm39) S374P probably benign Het
Gm11596 A T 11: 99,683,667 (GRCm39) I151N unknown Het
Gm9817 C T 13: 45,232,427 (GRCm39) Q77* probably null Het
Gon4l A G 3: 88,803,102 (GRCm39) K1238E probably benign Het
H13 A G 2: 152,537,431 (GRCm39) Y292C probably damaging Het
Hip1r A G 5: 124,139,504 (GRCm39) N928S probably benign Het
Iqcf4 T C 9: 106,445,812 (GRCm39) N112D probably benign Het
Jak3 A C 8: 72,131,686 (GRCm39) T125P probably benign Het
Krt7 A C 15: 101,311,913 (GRCm39) K124Q possibly damaging Het
Ldc1 T C 4: 130,114,169 (GRCm39) N83D probably damaging Het
Lrrc66 G A 5: 73,764,664 (GRCm39) S793F probably damaging Het
Mycbp2 C T 14: 103,485,840 (GRCm39) V1074I probably damaging Het
Nckap5 T C 1: 125,954,581 (GRCm39) D657G probably benign Het
Nt5el A G 13: 105,218,793 (GRCm39) I42M probably damaging Het
Or5b113 T A 19: 13,342,598 (GRCm39) V202E probably benign Het
Or8k21 T C 2: 86,145,034 (GRCm39) I199V probably benign Het
Osbpl7 A G 11: 96,941,548 (GRCm39) S24G probably benign Het
Pcm1 G T 8: 41,762,610 (GRCm39) E1385* probably null Het
Poc5 A G 13: 96,547,143 (GRCm39) T469A probably damaging Het
Ppp3ca A G 3: 136,596,222 (GRCm39) T296A probably benign Het
Prl6a1 T C 13: 27,502,125 (GRCm39) I164T probably damaging Het
Psmd6 GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC 14: 14,119,882 (GRCm38) probably null Het
Rnf149 A C 1: 39,604,299 (GRCm39) M188R possibly damaging Het
Rpl10l T C 12: 66,331,041 (GRCm39) I31V probably benign Het
Serinc5 T C 13: 92,797,592 (GRCm39) S32P probably damaging Het
Sirt1 T A 10: 63,162,562 (GRCm39) K137M possibly damaging Het
Smc4 A G 3: 68,923,496 (GRCm39) Y251C probably damaging Het
Sod3 A C 5: 52,525,643 (GRCm39) E114A possibly damaging Het
Tgfbr3 A G 5: 107,288,368 (GRCm39) V431A probably benign Het
Tlr4 T C 4: 66,757,836 (GRCm39) S210P probably damaging Het
Trub2 G T 2: 29,676,520 (GRCm39) T70N probably benign Het
Tsga10 A T 1: 37,874,323 (GRCm39) C159S unknown Het
Vmn1r15 A T 6: 57,235,644 (GRCm39) I171F probably benign Het
Vmn2r50 T A 7: 9,771,562 (GRCm39) H713L possibly damaging Het
Zcchc14 T C 8: 122,378,514 (GRCm39) S43G unknown Het
Zfp638 T C 6: 83,956,196 (GRCm39) I1601T 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
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
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'- GGAATACCACACCAAGTGTCG -3'
(R):5'- TGGATGTTCCCTAGACCCTC -3'

Sequencing Primer
(F):5'- TTCACACGCACAGGGTC -3'
(R):5'- ATGTTCCCTAGACCCTCGGGAC -3'
Posted On 2019-11-26