Incidental Mutation 'R9214:Tpp2'
ID 699035
Institutional Source Beutler Lab
Gene Symbol Tpp2
Ensembl Gene ENSMUSG00000041763
Gene Name tripeptidyl peptidase II
Synonyms TppII
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.589) question?
Stock # R9214 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 43973130-44042160 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 44031514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1111 (M1111L)
Ref Sequence ENSEMBL: ENSMUSP00000085244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087933] [ENSMUST00000188302] [ENSMUST00000188313] [ENSMUST00000189388] [ENSMUST00000190207]
AlphaFold Q64514
Predicted Effect probably benign
Transcript: ENSMUST00000087933
AA Change: M1111L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000085244
Gene: ENSMUSG00000041763
AA Change: M1111L

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: M1098L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000139918
Gene: ENSMUSG00000041763
AA Change: M1098L

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 benign
Transcript: ENSMUST00000190207
AA Change: M164L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000140313
Gene: ENSMUSG00000041763
AA Change: M164L

DomainStartEndE-ValueType
low complexity region 70 86 N/A INTRINSIC
PDB:3LXU|X 87 281 3e-19 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (64/64)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,890,653 (GRCm39) D352G probably benign Het
Abi1 A T 2: 22,831,989 (GRCm39) Y447* probably null Het
Acot1 A G 12: 84,064,189 (GRCm39) Y124C Het
Adgrf4 T C 17: 42,978,704 (GRCm39) N213S possibly damaging Het
Alg9 T A 9: 50,717,545 (GRCm39) Y443N probably damaging Het
Bhlhe22 A G 3: 18,109,024 (GRCm39) T25A probably benign Het
Bpifa1 C A 2: 153,985,789 (GRCm39) P35T unknown Het
Btbd16 T C 7: 130,381,437 (GRCm39) probably null Het
Ccdc187 G T 2: 26,183,409 (GRCm39) T197K probably benign Het
Cd209b A G 8: 3,968,771 (GRCm39) V295A probably benign Het
Cdcp3 C T 7: 130,824,481 (GRCm39) S192L possibly damaging Het
Clrn2 G T 5: 45,617,518 (GRCm39) A130S probably benign Het
Cnrip1 A G 11: 17,004,740 (GRCm39) T97A probably damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Col6a5 T C 9: 105,758,940 (GRCm39) T2089A possibly damaging Het
Cyfip1 T A 7: 55,523,273 (GRCm39) probably null Het
Ddx1 A G 12: 13,286,119 (GRCm39) S278P probably benign Het
Dnah12 A C 14: 26,445,060 (GRCm39) E654D probably benign Het
Efcab7 T C 4: 99,735,437 (GRCm39) S154P probably damaging Het
Emcn T C 3: 137,047,029 (GRCm39) F10S probably damaging Het
Fhip2a A G 19: 57,373,756 (GRCm39) H672R probably damaging Het
Flg2 G T 3: 93,110,884 (GRCm39) A971S unknown Het
Gli2 A T 1: 118,795,791 (GRCm39) H121Q probably damaging Het
Gm3633 A G 14: 42,460,359 (GRCm39) probably benign Het
Golga2 T C 2: 32,195,822 (GRCm39) L846P probably damaging Het
Golga7b A T 19: 42,255,440 (GRCm39) I106F probably damaging Het
Hltf T C 3: 20,140,280 (GRCm39) S460P probably benign Het
Hyal5 A G 6: 24,876,403 (GRCm39) Y92C probably damaging Het
Kif19b G A 5: 140,468,257 (GRCm39) R649Q probably benign Het
Mapk1 T A 16: 16,853,549 (GRCm39) C84S probably benign Het
Marchf10 A G 11: 105,281,100 (GRCm39) V395A probably benign Het
Meltf A G 16: 31,697,763 (GRCm39) T7A probably benign Het
Mfhas1 T A 8: 36,057,730 (GRCm39) V735D probably damaging Het
Mia2 G T 12: 59,223,150 (GRCm39) R486L possibly damaging Het
Mmp20 T C 9: 7,628,327 (GRCm39) L25P probably benign Het
Mprip C T 11: 59,650,901 (GRCm39) T1535I possibly damaging Het
Mrpl9 T A 3: 94,355,126 (GRCm39) S233T possibly damaging Het
Muc21 T A 17: 35,931,838 (GRCm39) S783C unknown Het
Nckap5 A C 1: 125,942,376 (GRCm39) V1576G probably benign Het
Ntng1 T C 3: 109,841,921 (GRCm39) Y284C probably damaging Het
Numa1 T A 7: 101,650,139 (GRCm39) V1290D probably damaging Het
Or52l1 T G 7: 104,829,587 (GRCm39) Y326S probably benign Het
Pcdhgc4 A T 18: 37,950,264 (GRCm39) D560V probably damaging Het
Pla2g1b A G 5: 115,610,107 (GRCm39) K84E possibly damaging Het
Pramel16 T C 4: 143,675,750 (GRCm39) I359V probably benign Het
Prrt4 C T 6: 29,170,767 (GRCm39) A562T possibly damaging Het
Rab6a T C 7: 100,275,786 (GRCm39) F33S probably damaging Het
Rgs11 A G 17: 26,427,260 (GRCm39) Y397C probably damaging Het
Rnf43 A T 11: 87,622,111 (GRCm39) H277L probably benign Het
Ryr1 A G 7: 28,785,187 (GRCm39) S1842P possibly damaging Het
Slc25a34 C T 4: 141,350,641 (GRCm39) A123T probably damaging Het
Smoc2 A G 17: 14,556,839 (GRCm39) Y96C probably damaging Het
Sqle A G 15: 59,194,765 (GRCm39) E267G probably benign Het
Sspo G A 6: 48,440,869 (GRCm39) R1777H possibly damaging Het
Stx6 T A 1: 155,067,210 (GRCm39) N133K probably benign Het
Taf7l2 T C 10: 115,948,903 (GRCm39) T208A probably benign Het
Thoc5 A T 11: 4,864,303 (GRCm39) Q320L probably benign Het
Tmc4 G C 7: 3,670,497 (GRCm39) C531W probably damaging Het
Tmigd1 A G 11: 76,801,031 (GRCm39) T173A probably damaging Het
Ttc21a T C 9: 119,772,941 (GRCm39) V206A probably benign Het
Ulk1 A T 5: 110,936,663 (GRCm39) V758E possibly damaging Het
Vdr T A 15: 97,767,600 (GRCm39) H130L probably benign Het
Vps13b A G 15: 35,623,892 (GRCm39) T1270A probably damaging Het
Zc3h13 A G 14: 75,560,991 (GRCm39) D527G unknown Het
Zfp512 C T 5: 31,637,434 (GRCm39) R508W probably damaging Het
Zfp606 A G 7: 12,215,026 (GRCm39) T85A unknown 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
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
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'- ACAGACATGCAGTTTCACGGC -3'
(R):5'- CAAACTTTATATGCCCCAGTACAGG -3'

Sequencing Primer
(F):5'- CAGTTTCACGGCTGGGAC -3'
(R):5'- CCAGTACAGGGGAATGCC -3'
Posted On 2022-02-07