Incidental Mutation 'R5156:Apeh'
ID 396736
Institutional Source Beutler Lab
Gene Symbol Apeh
Ensembl Gene ENSMUSG00000032590
Gene Name acylpeptide hydrolase
Synonyms N-acylaminoacyl peptide hydrolase
MMRRC Submission 042738-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5156 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 107962613-107971736 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 107971486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 29 (A29T)
Ref Sequence ENSEMBL: ENSMUSP00000141856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035208] [ENSMUST00000191985] [ENSMUST00000193254]
AlphaFold Q8R146
Predicted Effect probably benign
Transcript: ENSMUST00000035208
SMART Domains Protein: ENSMUSP00000035208
Gene: ENSMUSG00000032589

DomainStartEndE-ValueType
low complexity region 4 40 N/A INTRINSIC
low complexity region 42 77 N/A INTRINSIC
Pfam:zf-piccolo 165 223 6.1e-30 PFAM
low complexity region 394 409 N/A INTRINSIC
low complexity region 445 454 N/A INTRINSIC
Pfam:zf-piccolo 462 520 5.2e-31 PFAM
low complexity region 527 540 N/A INTRINSIC
low complexity region 627 643 N/A INTRINSIC
low complexity region 664 681 N/A INTRINSIC
low complexity region 694 708 N/A INTRINSIC
low complexity region 788 803 N/A INTRINSIC
low complexity region 994 1021 N/A INTRINSIC
coiled coil region 1047 1101 N/A INTRINSIC
low complexity region 1131 1145 N/A INTRINSIC
low complexity region 1173 1190 N/A INTRINSIC
low complexity region 1209 1220 N/A INTRINSIC
low complexity region 1333 1343 N/A INTRINSIC
low complexity region 1443 1455 N/A INTRINSIC
low complexity region 1481 1498 N/A INTRINSIC
low complexity region 1790 1800 N/A INTRINSIC
low complexity region 2117 2126 N/A INTRINSIC
low complexity region 2287 2303 N/A INTRINSIC
low complexity region 2326 2356 N/A INTRINSIC
SCOP:d1eq1a_ 2362 2477 2e-7 SMART
low complexity region 2607 2614 N/A INTRINSIC
low complexity region 2635 2651 N/A INTRINSIC
low complexity region 2655 2672 N/A INTRINSIC
coiled coil region 2949 2990 N/A INTRINSIC
low complexity region 3057 3071 N/A INTRINSIC
low complexity region 3089 3114 N/A INTRINSIC
low complexity region 3446 3461 N/A INTRINSIC
low complexity region 3520 3534 N/A INTRINSIC
low complexity region 3653 3666 N/A INTRINSIC
low complexity region 3750 3820 N/A INTRINSIC
low complexity region 3831 3852 N/A INTRINSIC
low complexity region 3856 3901 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000081309
AA Change: A27T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000080058
Gene: ENSMUSG00000032590
AA Change: A27T

DomainStartEndE-ValueType
Pfam:DLH 485 721 2e-8 PFAM
Pfam:Abhydrolase_1 501 633 3.8e-9 PFAM
Pfam:Abhydrolase_5 501 708 5e-16 PFAM
Pfam:Peptidase_S9 516 732 1.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124763
Predicted Effect probably damaging
Transcript: ENSMUST00000191985
AA Change: A54T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142150
Gene: ENSMUSG00000032590
AA Change: A54T

DomainStartEndE-ValueType
low complexity region 3 19 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192278
Predicted Effect probably damaging
Transcript: ENSMUST00000193254
AA Change: A29T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141856
Gene: ENSMUSG00000032590
AA Change: A29T

DomainStartEndE-ValueType
Pfam:DLH 485 721 4.8e-8 PFAM
Pfam:Abhydrolase_5 501 708 5.7e-16 PFAM
Pfam:Abhydrolase_6 503 714 6.2e-14 PFAM
Pfam:Peptidase_S9 515 732 1.4e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194915
Meta Mutation Damage Score 0.3566 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik G T 17: 79,935,638 (GRCm39) probably benign Het
Arap2 A T 5: 62,826,524 (GRCm39) Y1013* probably null Het
Arhgef4 A G 1: 34,762,355 (GRCm39) E537G unknown Het
Asf1b T C 8: 84,682,540 (GRCm39) F28S probably damaging Het
Cd46 T A 1: 194,767,693 (GRCm39) I123L possibly damaging Het
Cdca7 A T 2: 72,309,370 (GRCm39) T48S probably damaging Het
Cfap53 T A 18: 74,492,838 (GRCm39) probably benign Het
Clca3a2 T A 3: 144,511,599 (GRCm39) T599S probably benign Het
Csf1 T A 3: 107,656,252 (GRCm39) T148S probably benign Het
Dmbt1 T C 7: 130,699,400 (GRCm39) probably null Het
Dmpk A G 7: 18,818,050 (GRCm39) D44G probably damaging Het
Dnajb12 T A 10: 59,728,782 (GRCm39) N223K probably damaging Het
Dync1h1 T A 12: 110,595,264 (GRCm39) M1392K probably benign Het
Edrf1 C T 7: 133,261,908 (GRCm39) A867V probably damaging Het
Efemp2 T A 19: 5,527,706 (GRCm39) C94S possibly damaging Het
Epha8 C T 4: 136,666,037 (GRCm39) S373N probably benign Het
Foxk1 A G 5: 142,434,588 (GRCm39) D284G possibly damaging Het
Fzd10 C A 5: 128,678,366 (GRCm39) R29S possibly damaging Het
Gm13991 T C 2: 116,358,665 (GRCm39) noncoding transcript Het
Gm6818 A T 7: 38,101,471 (GRCm39) noncoding transcript Het
Hydin T A 8: 111,336,333 (GRCm39) C5037S probably benign Het
Ikzf1 T A 11: 11,719,448 (GRCm39) M492K probably damaging Het
Krt20 G T 11: 99,320,879 (GRCm39) S394R possibly damaging Het
Lrrc71 T A 3: 87,653,094 (GRCm39) R107S probably benign Het
Mia2 A G 12: 59,219,323 (GRCm39) T436A possibly damaging Het
Muc19 T A 15: 91,784,614 (GRCm39) noncoding transcript Het
Neu4 T C 1: 93,952,177 (GRCm39) V182A probably damaging Het
Notch2 T G 3: 98,031,626 (GRCm39) F1167V possibly damaging Het
Nrap A G 19: 56,360,277 (GRCm39) M189T possibly damaging Het
Nt5m A T 11: 59,765,487 (GRCm39) I172F probably damaging Het
Or5b118 G T 19: 13,449,037 (GRCm39) K234N probably damaging Het
Or5w15 G A 2: 87,568,119 (GRCm39) P183L possibly damaging Het
Or8k41 A T 2: 86,313,362 (GRCm39) C241* probably null Het
Plekha5 C T 6: 140,372,254 (GRCm39) T68M probably damaging Het
Ppef2 A G 5: 92,392,461 (GRCm39) probably null Het
Ppp1r37 T C 7: 19,295,900 (GRCm39) probably benign Het
Rfx4 T C 10: 84,704,218 (GRCm39) Y238H probably damaging Het
Sanbr A G 11: 23,543,424 (GRCm39) probably null Het
Sec13 G A 6: 113,707,837 (GRCm39) A161V probably benign Het
Serhl G A 15: 82,986,895 (GRCm39) probably benign Het
Slco4a1 T C 2: 180,114,572 (GRCm39) V588A probably benign Het
Slitrk3 T C 3: 72,956,592 (GRCm39) T727A probably benign Het
Sp100 T A 1: 85,601,404 (GRCm39) D241E probably damaging Het
Spata2 G T 2: 167,325,494 (GRCm39) H442N probably damaging Het
Speg T C 1: 75,404,731 (GRCm39) V2588A probably damaging Het
Tnfsf12 A G 11: 69,578,155 (GRCm39) S141P probably damaging Het
Trank1 A G 9: 111,219,762 (GRCm39) I2166M probably damaging Het
Trim10 T A 17: 37,187,948 (GRCm39) V388E probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r10 A G 5: 109,143,466 (GRCm39) V828A probably benign Het
Vmn2r75 T A 7: 85,813,436 (GRCm39) L455F possibly damaging Het
Vwa8 T A 14: 79,221,666 (GRCm39) S541T probably benign Het
Other mutations in Apeh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Apeh APN 9 107,963,406 (GRCm39) missense probably benign
IGL02232:Apeh APN 9 107,969,071 (GRCm39) missense probably benign 0.02
IGL02563:Apeh APN 9 107,970,908 (GRCm39) missense possibly damaging 0.85
IGL02713:Apeh APN 9 107,962,871 (GRCm39) missense probably damaging 1.00
IGL02794:Apeh APN 9 107,969,209 (GRCm39) missense possibly damaging 0.94
IGL03355:Apeh APN 9 107,963,644 (GRCm39) missense probably benign 0.00
R6807_Apeh_606 UTSW 9 107,969,878 (GRCm39) missense probably damaging 1.00
R0511:Apeh UTSW 9 107,964,254 (GRCm39) missense probably benign
R1221:Apeh UTSW 9 107,969,808 (GRCm39) missense probably benign
R1574:Apeh UTSW 9 107,969,925 (GRCm39) splice site probably null
R1863:Apeh UTSW 9 107,969,302 (GRCm39) missense possibly damaging 0.91
R2126:Apeh UTSW 9 107,962,866 (GRCm39) missense probably damaging 1.00
R2353:Apeh UTSW 9 107,963,491 (GRCm39) missense possibly damaging 0.84
R4930:Apeh UTSW 9 107,965,024 (GRCm39) missense probably benign
R5278:Apeh UTSW 9 107,968,457 (GRCm39) missense probably benign 0.08
R5366:Apeh UTSW 9 107,969,005 (GRCm39) missense probably benign 0.01
R5384:Apeh UTSW 9 107,963,662 (GRCm39) missense probably damaging 1.00
R5940:Apeh UTSW 9 107,969,098 (GRCm39) splice site probably null
R6102:Apeh UTSW 9 107,963,638 (GRCm39) missense probably damaging 1.00
R6300:Apeh UTSW 9 107,969,878 (GRCm39) missense probably damaging 1.00
R6368:Apeh UTSW 9 107,964,442 (GRCm39) missense probably damaging 1.00
R6807:Apeh UTSW 9 107,969,878 (GRCm39) missense probably damaging 1.00
R6809:Apeh UTSW 9 107,969,878 (GRCm39) missense probably damaging 1.00
R6817:Apeh UTSW 9 107,969,878 (GRCm39) missense probably damaging 1.00
R6828:Apeh UTSW 9 107,964,237 (GRCm39) missense probably damaging 1.00
R6866:Apeh UTSW 9 107,969,878 (GRCm39) missense probably damaging 1.00
R7034:Apeh UTSW 9 107,971,470 (GRCm39) missense possibly damaging 0.70
R7036:Apeh UTSW 9 107,971,470 (GRCm39) missense possibly damaging 0.70
R7139:Apeh UTSW 9 107,969,345 (GRCm39) missense probably damaging 1.00
R8024:Apeh UTSW 9 107,969,790 (GRCm39) missense probably benign 0.20
R8289:Apeh UTSW 9 107,963,444 (GRCm39) missense probably damaging 0.99
R8731:Apeh UTSW 9 107,964,422 (GRCm39) missense probably benign
R8957:Apeh UTSW 9 107,969,572 (GRCm39) missense probably benign 0.21
R9055:Apeh UTSW 9 107,963,045 (GRCm39) missense possibly damaging 0.64
R9569:Apeh UTSW 9 107,971,609 (GRCm39) missense unknown
R9695:Apeh UTSW 9 107,963,483 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CACACCTTCAACTCATTTACGG -3'
(R):5'- CGAAAGACCGACTATGGAGC -3'

Sequencing Primer
(F):5'- CTGTGCGCAGGAACTACAGTTG -3'
(R):5'- ACCGACTATGGAGCGTCAG -3'
Posted On 2016-06-21