Incidental Mutation 'R8245:Tpp2'
ID 640784
Institutional Source Beutler Lab
Gene Symbol Tpp2
Ensembl Gene ENSMUSG00000041763
Gene Name tripeptidyl peptidase II
Synonyms TppII
MMRRC Submission 067673-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.607) question?
Stock # R8245 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 43973130-44042160 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44022712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 971 (G971D)
Ref Sequence ENSEMBL: ENSMUSP00000085244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087933] [ENSMUST00000188302] [ENSMUST00000188313] [ENSMUST00000189388] [ENSMUST00000190207]
AlphaFold Q64514
Predicted Effect probably damaging
Transcript: ENSMUST00000087933
AA Change: G971D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085244
Gene: ENSMUSG00000041763
AA Change: G971D

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 damaging
Transcript: ENSMUST00000188313
AA Change: G971D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139918
Gene: ENSMUSG00000041763
AA Change: G971D

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: G24D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140313
Gene: ENSMUSG00000041763
AA Change: G24D

DomainStartEndE-ValueType
low complexity region 70 86 N/A INTRINSIC
PDB:3LXU|X 87 281 3e-19 PDB
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (63/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,539,870 (GRCm39) probably null Het
Adam4 A T 12: 81,466,657 (GRCm39) C655S probably damaging Het
Adamts13 A C 2: 26,880,568 (GRCm39) D717A probably damaging Het
Atf7ip2 A G 16: 10,019,262 (GRCm39) N30S possibly damaging Het
Bmp8b T C 4: 123,008,532 (GRCm39) V166A probably benign Het
Bpifb9a G A 2: 154,104,646 (GRCm39) G261R probably benign Het
Cdipt G T 7: 126,578,732 (GRCm39) M174I probably benign Het
Cep128 T C 12: 90,966,419 (GRCm39) T1063A probably benign Het
Ciao1 A G 2: 127,088,404 (GRCm39) Y140H probably damaging Het
Cngb1 A G 8: 96,024,408 (GRCm39) S217P unknown Het
Cnot2 T A 10: 116,346,294 (GRCm39) I103F probably benign Het
Col27a1 T G 4: 63,144,040 (GRCm39) V576G probably damaging Het
Dapk1 T A 13: 60,878,710 (GRCm39) H566Q probably benign Het
Dhrs2 T A 14: 55,478,637 (GRCm39) C261S possibly damaging Het
Ercc4 G C 16: 12,948,001 (GRCm39) R406P probably benign Het
Fer1l4 A G 2: 155,886,934 (GRCm39) probably null Het
Fhod3 T A 18: 25,246,673 (GRCm39) F1293Y probably damaging Het
Fsip1 T A 2: 118,075,359 (GRCm39) K218M unknown Het
Fsip2 G T 2: 82,811,346 (GRCm39) S2555I possibly damaging Het
Gfpt2 A G 11: 49,714,785 (GRCm39) K358E probably benign Het
Gm9637 A T 14: 19,402,598 (GRCm38) V1D noncoding transcript Het
H2-M10.6 T C 17: 37,124,155 (GRCm39) probably null Het
Hand2 A G 8: 57,774,994 (GRCm39) Y18C probably damaging Het
Helz2 A T 2: 180,879,895 (GRCm39) V607E probably damaging Het
Hps5 G A 7: 46,418,485 (GRCm39) R862* probably null Het
Ildr1 A G 16: 36,529,883 (GRCm39) D90G probably damaging Het
Ints12 A G 3: 132,814,633 (GRCm39) N280S probably benign Het
Ippk C T 13: 49,599,818 (GRCm39) P226S Het
Itpr2 T A 6: 146,274,604 (GRCm39) K859N probably damaging Het
Lhx9 G T 1: 138,766,179 (GRCm39) A212D probably benign Het
Myo6 C T 9: 80,162,229 (GRCm39) T322I unknown Het
Ndufaf4 A G 4: 24,898,648 (GRCm39) D71G probably benign Het
Nrp1 T A 8: 129,214,434 (GRCm39) S641T probably benign Het
Nudt7 A T 8: 114,863,080 (GRCm39) N37I probably damaging Het
Obscn T A 11: 58,913,066 (GRCm39) I271F Het
Or2ag16 T C 7: 106,352,374 (GRCm39) T74A probably benign Het
Or4d2b G A 11: 87,780,443 (GRCm39) S93F probably damaging Het
Or6c5b T C 10: 129,245,975 (GRCm39) S247P probably damaging Het
Or7g18 T C 9: 18,787,126 (GRCm39) Y168H probably benign Het
Or9g4b A G 2: 85,616,119 (GRCm39) E88G probably benign Het
Oxa1l T C 14: 54,605,274 (GRCm39) S317P probably damaging Het
Poglut2 A T 1: 44,156,226 (GRCm39) H120Q probably benign Het
Polr2a C T 11: 69,630,779 (GRCm39) R1213H probably damaging Het
Postn A T 3: 54,283,468 (GRCm39) S516C probably null Het
Rabep2 A G 7: 126,039,580 (GRCm39) T336A possibly damaging Het
Ralgapb G A 2: 158,285,256 (GRCm39) C585Y probably damaging Het
Rexo4 A G 2: 26,850,350 (GRCm39) S276P probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCTGCGGCGGC 7: 97,229,122 (GRCm39) probably benign Het
Sall3 G A 18: 81,016,969 (GRCm39) P320S probably benign Het
Sipa1l3 A G 7: 29,099,789 (GRCm39) L160P probably damaging Het
Sphkap A G 1: 83,256,492 (GRCm39) F419S probably benign Het
Stag1 C A 9: 100,811,946 (GRCm39) T808K probably benign Het
Stam2 G T 2: 52,604,931 (GRCm39) N201K possibly damaging Het
Stat1 G A 1: 52,194,178 (GRCm39) R704Q probably benign Het
Tacc2 A G 7: 130,331,303 (GRCm39) D2236G probably damaging Het
Thsd7a T A 6: 12,379,592 (GRCm39) Y944F Het
Tmem225 G T 9: 40,061,955 (GRCm39) V190F probably damaging Het
Tonsl A T 15: 76,521,022 (GRCm39) V400D probably benign Het
Trh C T 6: 92,220,050 (GRCm39) V89I probably benign Het
Txlnb A G 10: 17,717,205 (GRCm39) D404G probably damaging Het
Uggt1 A G 1: 36,204,645 (GRCm39) V990A probably damaging Het
Vmn1r179 T A 7: 23,628,396 (GRCm39) Y196N possibly damaging Het
Vmn2r8 T C 5: 108,945,936 (GRCm39) D557G probably damaging Het
Zfp516 G T 18: 82,974,458 (GRCm39) G219C 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
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
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
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'- TGTCAAGAACTTTAGGGACTGAGG -3'

Sequencing Primer
(F):5'- GCTGATGTTGATGTATGTTACTCTAC -3'
(R):5'- ATTAATCCACCTTCATTAACAGCTC -3'
Posted On 2020-07-28