Incidental Mutation 'R0003:Tpp2'
ID 32281
Institutional Source Beutler Lab
Gene Symbol Tpp2
Ensembl Gene ENSMUSG00000041763
Gene Name tripeptidyl peptidase II
Synonyms TppII
MMRRC Submission 038299-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.589) question?
Stock # R0003 (G1)
Quality Score 211
Status Validated
Chromosome 1
Chromosomal Location 43973130-44042160 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43999299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 358 (S358T)
Ref Sequence ENSEMBL: ENSMUSP00000140474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087933] [ENSMUST00000188302] [ENSMUST00000188313] [ENSMUST00000189388]
AlphaFold Q64514
Predicted Effect possibly damaging
Transcript: ENSMUST00000087933
AA Change: S358T

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000085244
Gene: ENSMUSG00000041763
AA Change: S358T

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 noncoding transcript
Transcript: ENSMUST00000186028
Predicted Effect possibly damaging
Transcript: ENSMUST00000188302
AA Change: S358T

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140474
Gene: ENSMUSG00000041763
AA Change: S358T

DomainStartEndE-ValueType
Pfam:Peptidase_S8 39 509 4.3e-84 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000188313
AA Change: S358T

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139918
Gene: ENSMUSG00000041763
AA Change: S358T

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 possibly damaging
Transcript: ENSMUST00000189388
AA Change: S358T

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140562
Gene: ENSMUSG00000041763
AA Change: S358T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190401
Meta Mutation Damage Score 0.0929 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.7%
Validation Efficiency 94% (82/87)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T A 11: 46,019,616 (GRCm39) C439S probably damaging Het
Adnp2 T C 18: 80,174,205 (GRCm39) Y68C probably damaging Het
Ahctf1 A T 1: 179,591,038 (GRCm39) D1247E probably benign Het
Alms1 T A 6: 85,606,192 (GRCm39) M2614K possibly damaging Het
Alx3 A G 3: 107,512,292 (GRCm39) H310R probably damaging Het
Ambra1 C T 2: 91,741,773 (GRCm39) T1016M probably damaging Het
Ankrd35 A G 3: 96,591,331 (GRCm39) E539G probably damaging Het
Aptx A G 4: 40,695,145 (GRCm39) probably benign Het
Arsi C T 18: 61,050,058 (GRCm39) R314C probably benign Het
Atp1a3 T C 7: 24,688,989 (GRCm39) probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Bicra G T 7: 15,705,812 (GRCm39) T1543K probably benign Het
Bltp2 T A 11: 78,177,404 (GRCm39) V1903E possibly damaging Het
Bzw2 A C 12: 36,180,014 (GRCm39) I71S probably damaging Het
Camk2a C T 18: 61,093,079 (GRCm39) A302V probably damaging Het
Ccdc12 A G 9: 110,485,665 (GRCm39) E12G possibly damaging Het
Cd300lb A T 11: 114,819,164 (GRCm39) F19Y probably benign Het
Clcn3 A T 8: 61,380,330 (GRCm39) C535* probably null Het
Cntnap5c A G 17: 58,506,012 (GRCm39) T679A probably benign Het
Cpsf7 G A 19: 10,516,993 (GRCm39) S365N possibly damaging Het
Cspg4b T A 13: 113,505,310 (GRCm39) S2146R probably benign Het
Cyp20a1 T C 1: 60,426,285 (GRCm39) probably benign Het
Decr2 A T 17: 26,302,027 (GRCm39) N234K probably benign Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Dnah12 T C 14: 26,494,601 (GRCm39) F1300L probably damaging Het
Dock1 T C 7: 134,331,793 (GRCm39) probably benign Het
Dpy19l4 A T 4: 11,267,619 (GRCm39) N440K probably damaging Het
Eprs1 T C 1: 185,146,588 (GRCm39) V1206A probably damaging Het
Exoc6b A G 6: 84,831,681 (GRCm39) probably null Het
Fam184b A G 5: 45,712,536 (GRCm39) probably benign Het
Fcho1 A T 8: 72,161,597 (GRCm39) S858T probably damaging Het
Fgfr1 A G 8: 26,058,214 (GRCm39) D430G possibly damaging Het
Fmnl3 T C 15: 99,219,013 (GRCm39) T807A probably damaging Het
Gabra5 T C 7: 57,063,476 (GRCm39) Y316C probably damaging Het
Gh A G 11: 106,192,346 (GRCm39) L16P probably damaging Het
Glipr2 A T 4: 43,970,532 (GRCm39) I87F probably damaging Het
Glrb T A 3: 80,763,221 (GRCm39) I259F probably damaging Het
Gpr63 T C 4: 25,007,651 (GRCm39) L125P probably damaging Het
Grb2 A G 11: 115,546,251 (GRCm39) Y37H probably damaging Het
Haus2 G A 2: 120,449,449 (GRCm39) probably benign Het
Hmgcr T C 13: 96,788,653 (GRCm39) N749S probably damaging Het
Igf1r T C 7: 67,814,990 (GRCm39) V297A probably damaging Het
Il12rb2 G T 6: 67,293,270 (GRCm39) P69H probably damaging Het
Ints3 C A 3: 90,315,818 (GRCm39) M315I probably benign Het
Izumo2 C T 7: 44,364,833 (GRCm39) T116I probably benign Het
Kctd19 A C 8: 106,121,993 (GRCm39) Y185D probably damaging Het
Lama4 A G 10: 38,936,218 (GRCm39) N631S possibly damaging Het
Lama5 T G 2: 179,819,872 (GRCm39) probably null Het
Lamc1 A C 1: 153,138,185 (GRCm39) L223R probably damaging Het
Lgr4 G A 2: 109,828,010 (GRCm39) probably null Het
Loxhd1 T C 18: 77,427,196 (GRCm39) L398P probably damaging Het
Mapk9 T A 11: 49,757,866 (GRCm39) D103E possibly damaging Het
Marchf6 T C 15: 31,469,678 (GRCm39) probably benign Het
Mlxipl G A 5: 135,162,043 (GRCm39) probably benign Het
Mrgbp C A 2: 180,225,231 (GRCm39) D62E probably benign Het
Mtap A T 4: 89,070,235 (GRCm39) probably benign Het
Myt1 G A 2: 181,443,664 (GRCm39) G497S probably damaging Het
Naa25 T G 5: 121,545,247 (GRCm39) probably benign Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Nkpd1 T C 7: 19,253,852 (GRCm39) C73R probably benign Het
Nup210l T C 3: 90,027,218 (GRCm39) I200T probably damaging Het
Nvl C A 1: 180,941,698 (GRCm39) D581Y probably damaging Het
Or51a6 T C 7: 102,604,185 (GRCm39) M208V probably benign Het
Or51f2 T C 7: 102,527,068 (GRCm39) V247A probably benign Het
Or5t17 T A 2: 86,832,710 (GRCm39) Y132* probably null Het
Or8b1c A G 9: 38,384,612 (GRCm39) T190A probably benign Het
Or9q1 T C 19: 13,805,050 (GRCm39) T237A probably damaging Het
Pcdh7 G T 5: 58,070,590 (GRCm39) E1089D probably benign Het
Pik3cd A G 4: 149,740,836 (GRCm39) probably null Het
Plekhh2 A T 17: 84,864,820 (GRCm39) K69N probably damaging Het
Ptgdr2 G A 19: 10,917,792 (GRCm39) C103Y probably damaging Het
Rrad A C 8: 105,355,299 (GRCm39) H236Q probably benign Het
Rslcan18 C T 13: 67,246,533 (GRCm39) A236T probably benign Het
Ryr2 C A 13: 11,839,265 (GRCm39) D503Y probably damaging Het
Siglec1 T C 2: 130,916,980 (GRCm39) T1092A probably benign Het
Siglecf A G 7: 43,005,350 (GRCm39) T437A probably benign Het
Spta1 A T 1: 174,032,839 (GRCm39) Q965H probably damaging Het
Stk10 A T 11: 32,539,460 (GRCm39) E280V probably benign Het
Tfg T C 16: 56,511,351 (GRCm39) Y326C possibly damaging Het
Trim25 G T 11: 88,906,598 (GRCm39) V437L probably benign Het
Ttn T C 2: 76,574,027 (GRCm39) D25622G probably damaging Het
Ube3b T A 5: 114,536,912 (GRCm39) S303R probably benign Het
Ush2a T A 1: 188,310,688 (GRCm39) V2088D probably damaging Het
Vmn2r103 A G 17: 20,032,241 (GRCm39) T672A probably damaging Het
Wdr11 G T 7: 129,200,785 (GRCm39) G79C probably damaging Het
Wdr89 T A 12: 75,679,367 (GRCm39) T296S probably benign Het
Zdhhc24 T A 19: 4,930,402 (GRCm39) L179M possibly damaging Het
Zfp981 T C 4: 146,622,217 (GRCm39) C381R probably damaging Het
Zim1 A G 7: 6,679,947 (GRCm39) I572T probably benign 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
R0001:Tpp2 UTSW 1 44,010,886 (GRCm39) missense probably benign 0.00
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'- TGTCAGTTACACAGCTTGGAGTCAATG -3'
(R):5'- CTATGCACACTGCTTTTGGGCAC -3'

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