Incidental Mutation 'R4412:Adprhl1'
ID 327966
Institutional Source Beutler Lab
Gene Symbol Adprhl1
Ensembl Gene ENSMUSG00000031448
Gene Name ADP-ribosylhydrolase like 1
Synonyms D330008N11Rik, Arh2
MMRRC Submission 041135-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4412 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 13271663-13304162 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13296114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 144 (K144E)
Ref Sequence ENSEMBL: ENSMUSP00000145145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033825] [ENSMUST00000168498] [ENSMUST00000171619] [ENSMUST00000204916]
AlphaFold Q8BGK2
Predicted Effect probably benign
Transcript: ENSMUST00000033825
AA Change: K144E

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000033825
Gene: ENSMUSG00000031448
AA Change: K144E

DomainStartEndE-ValueType
Pfam:ADP_ribosyl_GH 6 327 1.2e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166438
Predicted Effect probably benign
Transcript: ENSMUST00000168498
AA Change: K89E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000131920
Gene: ENSMUSG00000031448
AA Change: K89E

DomainStartEndE-ValueType
Pfam:ADP_ribosyl_GH 69 196 9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171619
AA Change: K63E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000132014
Gene: ENSMUSG00000031448
AA Change: K63E

DomainStartEndE-ValueType
Pfam:ADP_ribosyl_GH 1 135 4.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204916
AA Change: K144E

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000145145
Gene: ENSMUSG00000031448
AA Change: K144E

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 0.0986 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,449,302 (GRCm39) probably benign Het
Alpl A G 4: 137,485,939 (GRCm39) I2T possibly damaging Het
Chdh G T 14: 29,753,672 (GRCm39) G194C probably damaging Het
Cp A T 3: 20,020,517 (GRCm39) D170V probably damaging Het
Cpne9 A G 6: 113,266,962 (GRCm39) K132E possibly damaging Het
Cyp2b9 T G 7: 25,897,868 (GRCm39) L224R probably damaging Het
Dmxl1 A G 18: 49,981,828 (GRCm39) N153S probably benign Het
Dnah17 T C 11: 117,964,509 (GRCm39) Y2423C probably damaging Het
Dnajc14 G T 10: 128,642,074 (GRCm39) probably benign Het
Eipr1 A T 12: 28,909,372 (GRCm39) D213V probably damaging Het
Fat1 T C 8: 45,476,636 (GRCm39) V1894A probably damaging Het
Flrt2 G A 12: 95,747,047 (GRCm39) V462I probably benign Het
Gigyf2 A G 1: 87,364,582 (GRCm39) E954G probably damaging Het
Glis1 A G 4: 107,491,915 (GRCm39) H593R probably damaging Het
Gpr21 C G 2: 37,407,444 (GRCm39) probably benign Het
Gsdmc3 A G 15: 63,738,645 (GRCm39) M139T probably benign Het
Hydin C T 8: 111,142,368 (GRCm39) T749I probably damaging Het
Ilf3 C T 9: 21,310,856 (GRCm39) P620S possibly damaging Het
Khdc3 A G 9: 73,010,156 (GRCm39) T71A possibly damaging Het
Ms4a12 T C 19: 11,207,807 (GRCm39) N33S probably benign Het
Nisch A G 14: 30,908,615 (GRCm39) probably benign Het
Npr2 G A 4: 43,644,150 (GRCm39) C593Y probably damaging Het
Npr3 G C 15: 11,905,235 (GRCm39) T164R probably benign Het
Or4c1 A G 2: 89,133,684 (GRCm39) I84T probably benign Het
Palld A G 8: 62,140,406 (GRCm39) Y534H probably damaging Het
Pcdhb10 TC T 18: 37,547,194 (GRCm39) probably null Het
Plekhg3 A C 12: 76,624,538 (GRCm39) T1127P probably damaging Het
Podnl1 A T 8: 84,857,294 (GRCm39) H301L probably benign Het
Ripk2 A G 4: 16,124,511 (GRCm39) V399A probably benign Het
Rpp30 T A 19: 36,077,655 (GRCm39) N172K possibly damaging Het
Sin3b C T 8: 73,466,407 (GRCm39) A291V probably benign Het
Slc12a6 A T 2: 112,166,233 (GRCm39) Q204L possibly damaging Het
Snx9 C T 17: 5,958,669 (GRCm39) T249M probably damaging Het
Sohlh2 C A 3: 55,104,423 (GRCm39) T264K probably damaging Het
Srrm2 A G 17: 24,029,442 (GRCm39) probably benign Het
Syne2 T A 12: 76,152,834 (GRCm39) H6674Q probably benign Het
Tyw1 T A 5: 130,364,073 (GRCm39) probably null Het
Vmn1r115 C T 7: 20,578,207 (GRCm39) R235K probably benign Het
Vmn2r50 A C 7: 9,784,235 (GRCm39) F80V probably damaging Het
Yme1l1 G A 2: 23,065,199 (GRCm39) R236H 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
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
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'- ACAGGAACCATGGGAATTTCC -3'
(R):5'- ATAACTGCTTTCTTGCGACCTG -3'

Sequencing Primer
(F):5'- GGAATTTCCCCCTCGCATGG -3'
(R):5'- AGGGTTCCCGTGGCCTTTAC -3'
Posted On 2015-07-07