Incidental Mutation 'R0001:Tpp2'
ID 32208
Institutional Source Beutler Lab
Gene Symbol Tpp2
Ensembl Gene ENSMUSG00000041763
Gene Name tripeptidyl peptidase II
Synonyms TppII
MMRRC Submission 038297-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.607) question?
Stock # R0001 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 43973130-44042160 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44010886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 558 (N558D)
Ref Sequence ENSEMBL: ENSMUSP00000140474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087933] [ENSMUST00000188302] [ENSMUST00000188313] [ENSMUST00000189388]
AlphaFold Q64514
Predicted Effect probably benign
Transcript: ENSMUST00000087933
AA Change: N558D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000085244
Gene: ENSMUSG00000041763
AA Change: N558D

DomainStartEndE-ValueType
Pfam:Peptidase_S8 35 500 1.4e-96 PFAM
low complexity region 674 685 N/A INTRINSIC
Pfam:TPPII 777 964 2.4e-80 PFAM
low complexity region 1017 1033 N/A INTRINSIC
PDB:3LXU|X 1034 1262 1e-20 PDB
Predicted Effect unknown
Transcript: ENSMUST00000186441
AA Change: N66D
Predicted Effect probably benign
Transcript: ENSMUST00000188302
AA Change: N558D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140474
Gene: ENSMUSG00000041763
AA Change: N558D

DomainStartEndE-ValueType
Pfam:Peptidase_S8 39 509 4.3e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188313
AA Change: N558D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139918
Gene: ENSMUSG00000041763
AA Change: N558D

DomainStartEndE-ValueType
Pfam:Peptidase_S8 39 509 5.1e-83 PFAM
low complexity region 674 685 N/A INTRINSIC
Pfam:TPPII 773 966 2.7e-93 PFAM
low complexity region 1004 1020 N/A INTRINSIC
PDB:3LXU|X 1021 1249 1e-20 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000189388
AA Change: N558D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140562
Gene: ENSMUSG00000041763
AA Change: N558D

DomainStartEndE-ValueType
Pfam:Peptidase_S8 39 509 2.3e-81 PFAM
low complexity region 674 685 N/A INTRINSIC
Pfam:TPPII 773 880 7.8e-49 PFAM
Meta Mutation Damage Score 0.0680 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 99% (76/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mammalian peptidase that, at neutral pH, removes tripeptides from the N terminus of longer peptides. The protein has a specialized function that is essential for some MHC class I antigen presentation. The protein is a high molecular mass serine exopeptidase; the amino acid sequence surrounding the serine residue at the active site is similar to the peptidases of the subtilisin class rather than the trypsin class. [provided by RefSeq, Jul 2008]
PHENOTYPE: Engineered mutations of this gene result in decreased lifespan and symptoms of immunohematopoietic senescence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T A 7: 12,288,534 (GRCm39) probably benign Het
A4galt A G 15: 83,112,490 (GRCm39) F98L probably benign Het
Abca4 T G 3: 121,874,660 (GRCm39) probably benign Het
Acacb C T 5: 114,342,894 (GRCm39) probably benign Het
Agbl1 A T 7: 76,069,611 (GRCm39) H367L probably damaging Het
Apoa4 C A 9: 46,154,190 (GRCm39) Q264K probably benign Het
Camsap2 A T 1: 136,210,626 (GRCm39) probably benign Het
Cdan1 C A 2: 120,554,232 (GRCm39) R939L probably benign Het
Ceacam18 G A 7: 43,286,300 (GRCm39) V58I possibly damaging Het
Ciita A T 16: 10,332,297 (GRCm39) probably benign Het
Clk4 T A 11: 51,159,592 (GRCm39) probably benign Het
Cntnap2 T C 6: 46,507,105 (GRCm39) D215G probably benign Het
Col11a2 T C 17: 34,280,586 (GRCm39) S1218P probably benign Het
Col20a1 T C 2: 180,626,205 (GRCm39) probably benign Het
Ctsb A G 14: 63,373,071 (GRCm39) E76G probably benign Het
Ctu2 T C 8: 123,205,659 (GRCm39) C161R probably benign Het
Dhx29 T C 13: 113,101,090 (GRCm39) L1211P probably damaging Het
Dhx9 G T 1: 153,338,382 (GRCm39) T759K probably damaging Het
Dmxl1 T C 18: 50,021,964 (GRCm39) probably benign Het
Dpysl3 C T 18: 43,491,440 (GRCm39) E226K possibly damaging Het
Eif2d A T 1: 131,095,864 (GRCm39) K453* probably null Het
Epha7 T C 4: 28,961,279 (GRCm39) probably benign Het
Fat3 T C 9: 16,289,169 (GRCm39) D118G probably damaging Het
Fhip2a T A 19: 57,370,188 (GRCm39) H477Q probably benign Het
Foxn4 T A 5: 114,398,931 (GRCm39) Q159L probably damaging Het
Frs2 G T 10: 116,910,781 (GRCm39) H194N possibly damaging Het
Fut8 A T 12: 77,522,089 (GRCm39) *576L probably null Het
Galns T C 8: 123,322,622 (GRCm39) probably benign Het
Gamt G A 10: 80,094,895 (GRCm39) probably benign Het
Gpn1 T A 5: 31,652,961 (GRCm39) probably benign Het
Ipcef1 G T 10: 6,850,600 (GRCm39) H330Q probably damaging Het
Itga4 A C 2: 79,156,931 (GRCm39) Y1024S probably damaging Het
Jak2 A G 19: 29,259,787 (GRCm39) I229V probably benign Het
Katnal1 A G 5: 148,858,085 (GRCm39) S42P probably damaging Het
Kcnu1 A T 8: 26,349,298 (GRCm39) D142V probably damaging Het
Lig3 C T 11: 82,681,417 (GRCm39) R470W probably damaging Het
Mgat4c A G 10: 102,224,817 (GRCm39) S344G probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mipol1 C T 12: 57,507,625 (GRCm39) probably benign Het
Mki67 C T 7: 135,300,901 (GRCm39) V1378M probably damaging Het
Mki67 T A 7: 135,302,748 (GRCm39) D762V probably damaging Het
Mmp9 A G 2: 164,790,303 (GRCm39) T43A probably benign Het
Muc6 T C 7: 141,227,841 (GRCm39) T1316A possibly damaging Het
Naip5 A G 13: 100,351,158 (GRCm39) probably null Het
Naip5 C A 13: 100,359,622 (GRCm39) S538I probably benign Het
Nek3 A T 8: 22,648,628 (GRCm39) probably benign Het
Nlrp1b A G 11: 71,052,585 (GRCm39) S948P probably damaging Het
Nyap2 A T 1: 81,169,822 (GRCm39) H193L probably benign Het
Or52h1 T A 7: 103,828,680 (GRCm39) K312* probably null Het
Or9s23 A G 1: 92,501,183 (GRCm39) K97E possibly damaging Het
Patl2 G A 2: 121,956,191 (GRCm39) probably benign Het
Pcdhb11 A T 18: 37,557,042 (GRCm39) R791W probably benign Het
Pkd1l3 C A 8: 110,355,265 (GRCm39) probably benign Het
Pkn2 A T 3: 142,534,749 (GRCm39) V73D probably benign Het
Pknox1 A T 17: 31,818,610 (GRCm39) H281L probably damaging Het
Polr3a A G 14: 24,502,257 (GRCm39) probably benign Het
Prss38 A G 11: 59,264,006 (GRCm39) probably benign Het
Rad54l2 A G 9: 106,585,416 (GRCm39) F783S probably damaging Het
Rbm5 T C 9: 107,619,623 (GRCm39) R125G probably damaging Het
Rnpep A G 1: 135,200,223 (GRCm39) probably benign Het
Slc1a5 T A 7: 16,527,562 (GRCm39) probably null Het
Slc22a4 G A 11: 53,918,829 (GRCm39) probably benign Het
Spink12 T C 18: 44,240,763 (GRCm39) C50R probably damaging Het
Spmip5 G A 19: 58,777,603 (GRCm39) A61V probably damaging Het
Svep1 G A 4: 58,066,460 (GRCm39) T3208I possibly damaging Het
Tgm5 G T 2: 120,908,127 (GRCm39) D16E probably damaging Het
Trappc9 A T 15: 72,835,511 (GRCm39) L507Q probably damaging Het
Trpm3 A T 19: 22,692,695 (GRCm39) Q262L possibly damaging Het
Ttn A G 2: 76,607,316 (GRCm39) probably benign Het
Ttn G A 2: 76,662,433 (GRCm39) probably benign Het
Ubr4 T A 4: 139,179,099 (GRCm39) L3316Q probably damaging Het
Uckl1 T A 2: 181,216,448 (GRCm39) Y136F probably damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vps39 A G 2: 120,148,534 (GRCm39) V870A probably benign Het
Zdhhc25 A G 15: 88,485,112 (GRCm39) D149G probably benign Het
Zfp648 C T 1: 154,081,032 (GRCm39) T397M probably damaging Het
Zic2 C A 14: 122,716,369 (GRCm39) T435K probably damaging Het
Other mutations in Tpp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00977:Tpp2 APN 1 44,022,451 (GRCm39) missense possibly damaging 0.90
IGL01021:Tpp2 APN 1 43,973,347 (GRCm39) nonsense probably null
IGL01096:Tpp2 APN 1 44,000,048 (GRCm39) missense probably damaging 1.00
IGL01344:Tpp2 APN 1 44,022,422 (GRCm39) missense probably benign 0.04
IGL01642:Tpp2 APN 1 43,993,813 (GRCm39) missense probably damaging 1.00
IGL02719:Tpp2 APN 1 43,979,391 (GRCm39) missense probably benign 0.09
IGL02890:Tpp2 APN 1 44,038,850 (GRCm39) missense probably damaging 1.00
IGL03102:Tpp2 APN 1 43,995,649 (GRCm39) missense probably damaging 1.00
IGL03175:Tpp2 APN 1 44,012,671 (GRCm39) missense probably benign 0.35
beaver UTSW 1 44,010,875 (GRCm39) missense probably benign 0.08
billingsly UTSW 1 44,022,712 (GRCm39) missense probably damaging 1.00
cleaver UTSW 1 44,017,668 (GRCm39) nonsense probably null
dow UTSW 1 44,009,552 (GRCm39) splice site probably benign
Eddie UTSW 1 44,008,148 (GRCm39) missense probably damaging 1.00
jerry UTSW 1 44,017,897 (GRCm39) missense probably benign 0.04
June UTSW 1 43,993,870 (GRCm39) missense probably damaging 1.00
landers UTSW 1 44,016,415 (GRCm39) missense probably damaging 1.00
mathers UTSW 1 44,031,428 (GRCm39) missense probably damaging 1.00
recurrentis UTSW 1 44,031,553 (GRCm39) missense probably null 0.29
state UTSW 1 44,017,598 (GRCm39) missense possibly damaging 0.48
wally UTSW 1 44,031,556 (GRCm39) critical splice donor site probably null
Ward UTSW 1 43,993,896 (GRCm39) missense possibly damaging 0.82
wilson UTSW 1 44,011,849 (GRCm39) critical splice donor site probably null
BB010:Tpp2 UTSW 1 44,000,121 (GRCm39) missense probably damaging 1.00
BB020:Tpp2 UTSW 1 44,000,121 (GRCm39) missense probably damaging 1.00
R0003:Tpp2 UTSW 1 43,999,299 (GRCm39) missense possibly damaging 0.94
R0066:Tpp2 UTSW 1 44,020,908 (GRCm39) missense possibly damaging 0.56
R0110:Tpp2 UTSW 1 44,017,664 (GRCm39) missense probably benign 0.00
R0110:Tpp2 UTSW 1 44,038,853 (GRCm39) missense probably damaging 1.00
R0167:Tpp2 UTSW 1 44,009,648 (GRCm39) missense probably benign 0.01
R0441:Tpp2 UTSW 1 44,029,722 (GRCm39) missense possibly damaging 0.85
R0520:Tpp2 UTSW 1 44,029,690 (GRCm39) missense probably damaging 1.00
R0639:Tpp2 UTSW 1 44,014,607 (GRCm39) missense probably benign 0.00
R1118:Tpp2 UTSW 1 44,031,556 (GRCm39) critical splice donor site probably null
R1119:Tpp2 UTSW 1 44,031,556 (GRCm39) critical splice donor site probably null
R1593:Tpp2 UTSW 1 44,014,593 (GRCm39) missense probably benign 0.01
R1702:Tpp2 UTSW 1 44,029,708 (GRCm39) missense probably damaging 0.99
R1756:Tpp2 UTSW 1 44,017,885 (GRCm39) splice site probably null
R2066:Tpp2 UTSW 1 44,017,598 (GRCm39) missense possibly damaging 0.48
R2171:Tpp2 UTSW 1 43,996,606 (GRCm39) missense probably benign 0.00
R2378:Tpp2 UTSW 1 44,038,925 (GRCm39) missense probably damaging 0.99
R2394:Tpp2 UTSW 1 44,022,346 (GRCm39) missense possibly damaging 0.83
R2507:Tpp2 UTSW 1 44,040,609 (GRCm39) missense probably benign 0.31
R2879:Tpp2 UTSW 1 44,010,783 (GRCm39) missense probably damaging 1.00
R3436:Tpp2 UTSW 1 43,979,304 (GRCm39) missense probably damaging 0.99
R4106:Tpp2 UTSW 1 44,040,617 (GRCm39) missense possibly damaging 0.71
R4658:Tpp2 UTSW 1 43,993,870 (GRCm39) missense probably damaging 1.00
R4760:Tpp2 UTSW 1 44,010,875 (GRCm39) missense probably benign 0.08
R4963:Tpp2 UTSW 1 44,031,428 (GRCm39) missense probably damaging 1.00
R5049:Tpp2 UTSW 1 44,040,633 (GRCm39) missense possibly damaging 0.46
R5073:Tpp2 UTSW 1 43,993,896 (GRCm39) missense possibly damaging 0.82
R6010:Tpp2 UTSW 1 43,990,373 (GRCm39) critical splice donor site probably null
R6118:Tpp2 UTSW 1 43,979,306 (GRCm39) missense probably damaging 1.00
R6155:Tpp2 UTSW 1 43,995,649 (GRCm39) missense probably damaging 1.00
R6169:Tpp2 UTSW 1 44,022,739 (GRCm39) missense probably damaging 0.99
R6236:Tpp2 UTSW 1 44,016,477 (GRCm39) missense probably benign 0.01
R6695:Tpp2 UTSW 1 44,022,436 (GRCm39) missense probably benign
R6845:Tpp2 UTSW 1 44,017,668 (GRCm39) nonsense probably null
R7054:Tpp2 UTSW 1 44,022,318 (GRCm39) missense probably damaging 1.00
R7094:Tpp2 UTSW 1 44,008,148 (GRCm39) missense probably damaging 1.00
R7223:Tpp2 UTSW 1 44,008,048 (GRCm39) missense probably damaging 1.00
R7316:Tpp2 UTSW 1 44,009,591 (GRCm39) missense probably benign 0.00
R7324:Tpp2 UTSW 1 44,017,938 (GRCm39) missense probably damaging 1.00
R7363:Tpp2 UTSW 1 44,024,582 (GRCm39) missense probably benign 0.00
R7454:Tpp2 UTSW 1 43,993,819 (GRCm39) missense probably benign 0.01
R7496:Tpp2 UTSW 1 44,022,677 (GRCm39) missense probably benign 0.09
R7699:Tpp2 UTSW 1 44,009,626 (GRCm39) missense probably benign
R7700:Tpp2 UTSW 1 44,009,626 (GRCm39) missense probably benign
R7804:Tpp2 UTSW 1 44,022,441 (GRCm39) missense probably benign 0.00
R7933:Tpp2 UTSW 1 44,000,121 (GRCm39) missense probably damaging 1.00
R7979:Tpp2 UTSW 1 43,979,297 (GRCm39) missense probably benign 0.35
R8032:Tpp2 UTSW 1 44,014,628 (GRCm39) missense possibly damaging 0.82
R8101:Tpp2 UTSW 1 44,009,600 (GRCm39) missense probably damaging 1.00
R8245:Tpp2 UTSW 1 44,022,712 (GRCm39) missense probably damaging 1.00
R8314:Tpp2 UTSW 1 43,973,387 (GRCm39) missense probably benign 0.10
R8518:Tpp2 UTSW 1 44,019,545 (GRCm39) missense probably damaging 1.00
R8519:Tpp2 UTSW 1 44,016,365 (GRCm39) critical splice acceptor site probably null
R8529:Tpp2 UTSW 1 44,022,300 (GRCm39) missense probably benign
R8756:Tpp2 UTSW 1 43,999,295 (GRCm39) nonsense probably null
R8765:Tpp2 UTSW 1 44,011,849 (GRCm39) critical splice donor site probably null
R8773:Tpp2 UTSW 1 44,009,552 (GRCm39) splice site probably benign
R8915:Tpp2 UTSW 1 44,016,415 (GRCm39) missense probably damaging 1.00
R9049:Tpp2 UTSW 1 43,992,502 (GRCm39) missense possibly damaging 0.66
R9090:Tpp2 UTSW 1 43,993,811 (GRCm39) missense probably damaging 1.00
R9176:Tpp2 UTSW 1 44,031,553 (GRCm39) missense probably null 0.29
R9214:Tpp2 UTSW 1 44,031,514 (GRCm39) missense probably benign
R9271:Tpp2 UTSW 1 43,993,811 (GRCm39) missense probably damaging 1.00
R9316:Tpp2 UTSW 1 44,017,604 (GRCm39) missense probably damaging 0.97
R9371:Tpp2 UTSW 1 43,999,369 (GRCm39) missense probably damaging 1.00
R9422:Tpp2 UTSW 1 44,017,897 (GRCm39) missense probably benign 0.04
R9488:Tpp2 UTSW 1 44,041,272 (GRCm39) missense probably benign 0.03
R9513:Tpp2 UTSW 1 44,017,648 (GRCm39) missense probably benign 0.01
R9514:Tpp2 UTSW 1 44,017,648 (GRCm39) missense probably benign 0.01
R9516:Tpp2 UTSW 1 44,017,648 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTTCTTTACCTAGCCATTTACATGCTACCATT -3'
(R):5'- GCTGTGTTTACTTCCCACACTCACC -3'

Sequencing Primer
(F):5'- CAGTTACTGTTGGAAATAACCGTGG -3'
(R):5'- gcctaagaccatcagaaaacac -3'
Posted On 2013-05-09