Incidental Mutation 'R6169:Tpp2'
ID 490281
Institutional Source Beutler Lab
Gene Symbol Tpp2
Ensembl Gene ENSMUSG00000041763
Gene Name tripeptidyl peptidase II
Synonyms TppII
Accession Numbers
Essential gene? Possibly essential (E-score: 0.589) question?
Stock # R6169 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 43973130-44042160 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44022739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 33 (L33P)
Ref Sequence ENSEMBL: ENSMUSP00000140313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087933] [ENSMUST00000188302] [ENSMUST00000188313] [ENSMUST00000189388] [ENSMUST00000190207]
AlphaFold Q64514
Predicted Effect probably benign
Transcript: ENSMUST00000087933
AA Change: L980P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000085244
Gene: ENSMUSG00000041763
AA Change: L980P

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 probably benign
Transcript: ENSMUST00000188302
SMART Domains Protein: ENSMUSP00000140474
Gene: ENSMUSG00000041763

DomainStartEndE-ValueType
Pfam:Peptidase_S8 39 509 4.3e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188313
AA Change: L980P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139918
Gene: ENSMUSG00000041763
AA Change: L980P

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
SMART Domains Protein: ENSMUSP00000140562
Gene: ENSMUSG00000041763

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 probably damaging
Transcript: ENSMUST00000190207
AA Change: L33P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140313
Gene: ENSMUSG00000041763
AA Change: L33P

DomainStartEndE-ValueType
low complexity region 70 86 N/A INTRINSIC
PDB:3LXU|X 87 281 3e-19 PDB
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 94% (67/71)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik C A 11: 3,888,005 (GRCm39) C127F unknown Het
9930111J21Rik2 A T 11: 48,910,088 (GRCm39) probably null Het
Adamts16 A T 13: 70,918,393 (GRCm39) L676* probably null Het
Adgrv1 A T 13: 81,567,378 (GRCm39) V5265E probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Akap6 T A 12: 53,189,141 (GRCm39) M2185K probably benign Het
Ankfy1 G A 11: 72,645,285 (GRCm39) C788Y probably benign Het
Ankrd50 A G 3: 38,509,988 (GRCm39) V793A probably damaging Het
Arid2 T A 15: 96,266,558 (GRCm39) N535K probably benign Het
Atrnl1 A G 19: 57,630,895 (GRCm39) T221A probably benign Het
Bbof1 C T 12: 84,473,588 (GRCm39) T306I probably benign Het
Cabs1 C T 5: 88,127,613 (GRCm39) T88I possibly damaging Het
Ccdc60 C A 5: 116,275,131 (GRCm39) A351S probably benign Het
Cetn3 A C 13: 81,940,097 (GRCm39) R44S probably damaging Het
Cluap1 A G 16: 3,746,425 (GRCm39) K262R possibly damaging Het
Cnrip1 G A 11: 17,004,731 (GRCm39) V94I probably null Het
Cog6 A T 3: 52,914,722 (GRCm39) S245T probably benign Het
Disp2 T A 2: 118,622,031 (GRCm39) V921D probably damaging Het
Entrep2 G A 7: 64,409,147 (GRCm39) P416S probably benign Het
Ep400 T C 5: 110,889,863 (GRCm39) K504E possibly damaging Het
Fbn1 T A 2: 125,177,409 (GRCm39) probably null Het
Fyb2 T C 4: 104,857,713 (GRCm39) V630A probably benign Het
Gm43218 T A 6: 70,217,606 (GRCm39) Y50F probably benign Het
Gm5431 T C 11: 48,779,402 (GRCm39) T507A probably benign Het
Gucy2e G T 11: 69,126,930 (GRCm39) A181E probably benign Het
Hrnr C G 3: 93,233,062 (GRCm39) S1100* probably null Het
Htt T C 5: 35,064,817 (GRCm39) V3010A probably damaging Het
Ighv1-11 T C 12: 114,575,918 (GRCm39) Y99C probably damaging Het
Ighv1-12 T C 12: 114,579,577 (GRCm39) K25E possibly damaging Het
Il6ra A G 3: 89,778,598 (GRCm39) F417S probably benign Het
Itgb4 T C 11: 115,885,102 (GRCm39) S994P probably damaging Het
Itgbl1 G A 14: 123,897,790 (GRCm39) A24T probably benign Het
Itpr1 T C 6: 108,346,077 (GRCm39) F127L probably damaging Het
Itprid2 T G 2: 79,475,406 (GRCm39) I455R probably damaging Het
Krt86 A G 15: 101,374,170 (GRCm39) Y243C probably damaging Het
Lnx1 A T 5: 74,838,230 (GRCm39) W11R probably damaging Het
Mast4 A G 13: 102,923,929 (GRCm39) L302P probably damaging Het
Mettl3 A G 14: 52,536,214 (GRCm39) V210A possibly damaging Het
Mllt1 T C 17: 57,206,822 (GRCm39) T341A probably benign Het
Obscn T C 11: 58,891,325 (GRCm39) E7069G unknown Het
Or1e27-ps1 A T 11: 73,556,160 (GRCm39) T242S possibly damaging Het
Or52b4 T C 7: 102,184,479 (GRCm39) I175T probably benign Het
Osgep A G 14: 51,157,209 (GRCm39) V11A possibly damaging Het
Oxld1 G A 11: 120,347,675 (GRCm39) A174V possibly damaging Het
Pibf1 A T 14: 99,350,443 (GRCm39) E197V probably null Het
Pkn1 G A 8: 84,407,835 (GRCm39) Q425* probably null Het
Pramel22 T C 4: 143,380,685 (GRCm39) Y446C probably benign Het
Prss35 T C 9: 86,637,491 (GRCm39) I87T probably benign Het
Psmc3 T C 2: 90,888,184 (GRCm39) F304S probably damaging Het
Psmd11 T A 11: 80,351,539 (GRCm39) M254K probably damaging Het
Ralgapa2 T C 2: 146,292,385 (GRCm39) Y218C probably damaging Het
Sec23b C T 2: 144,428,894 (GRCm39) R701C probably damaging Het
Slc22a21 A G 11: 53,848,913 (GRCm39) S280P probably damaging Het
Slc39a12 T C 2: 14,405,044 (GRCm39) I212T possibly damaging Het
Slc7a12 T C 3: 14,562,388 (GRCm39) V255A probably damaging Het
Smc3 T A 19: 53,622,517 (GRCm39) N697K probably benign Het
Snai1 C A 2: 167,380,831 (GRCm39) P108Q probably benign Het
Stim2 T G 5: 54,276,021 (GRCm39) L732R probably damaging Het
Syde1 A G 10: 78,421,938 (GRCm39) L597S probably damaging Het
Tcte1 T A 17: 45,845,996 (GRCm39) M200K probably benign Het
Tenm2 T A 11: 36,030,517 (GRCm39) T761S probably damaging Het
Thoc2l T A 5: 104,666,262 (GRCm39) N261K probably benign Het
Tlr2 C A 3: 83,745,455 (GRCm39) E209D probably benign Het
Trmt1l C A 1: 151,304,704 (GRCm39) probably benign Het
Unc45a A C 7: 79,978,511 (GRCm39) S646A possibly damaging Het
Usp37 A T 1: 74,534,910 (GRCm39) I12N probably damaging Het
Vmn2r81 T C 10: 79,104,382 (GRCm39) V335A probably benign Het
Wwc2 A T 8: 48,311,878 (GRCm39) S762T unknown Het
Yeats2 A G 16: 20,038,417 (GRCm39) K129E probably damaging Het
Zscan4-ps2 T C 7: 11,251,558 (GRCm39) V198A 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
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
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'- ACCTGATGATAAGTAAGTGCTGATG -3'
(R):5'- TCAAGAACTTTAGGGACTGAGGTG -3'

Sequencing Primer
(F):5'- GCTGATGTTGATGTATGTTACTCTAC -3'
(R):5'- CTTTAGGGACTGAGGTGGAATAG -3'
Posted On 2017-10-10