Incidental Mutation 'R9176:Tpp2'
ID 696649
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 # R9176 (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 G at 44031553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 1124 (N1124D)
Ref Sequence ENSEMBL: ENSMUSP00000085244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087933] [ENSMUST00000188302] [ENSMUST00000188313] [ENSMUST00000189388] [ENSMUST00000190207]
AlphaFold Q64514
Predicted Effect probably null
Transcript: ENSMUST00000087933
AA Change: N1124D

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000085244
Gene: ENSMUSG00000041763
AA Change: N1124D

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 possibly damaging
Transcript: ENSMUST00000188313
AA Change: N1111D

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139918
Gene: ENSMUSG00000041763
AA Change: N1111D

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 possibly damaging
Transcript: ENSMUST00000190207
AA Change: N177D

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140313
Gene: ENSMUSG00000041763
AA Change: N177D

DomainStartEndE-ValueType
low complexity region 70 86 N/A INTRINSIC
PDB:3LXU|X 87 281 3e-19 PDB
Meta Mutation Damage Score 0.0715 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (70/70)
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
1700001J03Rik T C 5: 146,121,004 (GRCm39) D119G probably damaging Het
1700123K08Rik T C 5: 138,561,155 (GRCm39) D169G probably damaging Het
Abcd2 T G 15: 91,075,623 (GRCm39) R63S probably benign Het
Ankrd55 T C 13: 112,459,610 (GRCm39) V68A possibly damaging Het
Avil T C 10: 126,852,248 (GRCm39) Y678H probably damaging Het
Bltp1 T A 3: 37,010,852 (GRCm39) V1750E possibly damaging Het
Cd300ld2 C A 11: 114,904,772 (GRCm39) E32* probably null Het
Chuk A T 19: 44,076,442 (GRCm39) L423Q probably damaging Het
Cisd3 A G 11: 97,579,127 (GRCm39) T90A probably damaging Het
Cmpk2 T A 12: 26,524,027 (GRCm39) S275T probably benign Het
Cntnap5c T A 17: 58,620,730 (GRCm39) N936K probably damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Col4a4 G T 1: 82,463,349 (GRCm39) P1047Q unknown Het
Col6a4 A G 9: 105,938,755 (GRCm39) L1321P probably damaging Het
Crat A G 2: 30,297,892 (GRCm39) F211L probably damaging Het
Csmd3 T C 15: 47,864,937 (GRCm39) Q27R Het
Dapk1 T C 13: 60,866,262 (GRCm39) V205A probably damaging Het
Ddx20 T C 3: 105,586,158 (GRCm39) N729S probably benign Het
Derl2 A G 11: 70,904,376 (GRCm39) V139A possibly damaging Het
Dscam C T 16: 96,486,553 (GRCm39) D1041N probably benign Het
Fbxo2 A T 4: 148,250,147 (GRCm39) R226W probably damaging Het
Fhip1b A C 7: 105,030,585 (GRCm39) H180Q probably benign Het
Fhip2b T C 14: 70,826,540 (GRCm39) K183E probably benign Het
Gpr19 A G 6: 134,846,718 (GRCm39) S322P probably damaging Het
Gvin2 T C 7: 105,551,262 (GRCm39) K597E possibly damaging Het
Herc6 A G 6: 57,636,663 (GRCm39) N793S probably benign Het
Ikbke A T 1: 131,191,025 (GRCm39) S563T probably benign Het
Il1r2 T C 1: 40,144,478 (GRCm39) L55P probably damaging Het
Klhl8 C A 5: 104,012,111 (GRCm39) A575S probably benign Het
Lims1 T G 10: 58,254,265 (GRCm39) C340G probably damaging Het
Loxl3 G A 6: 83,026,292 (GRCm39) C460Y probably damaging Het
Mapk9 T A 11: 49,763,565 (GRCm39) L152* probably null Het
Mef2d T C 3: 88,066,463 (GRCm39) V144A possibly damaging Het
Mertk A G 2: 128,620,892 (GRCm39) D578G possibly damaging Het
Mettl1 C A 10: 126,881,250 (GRCm39) Q254K probably benign Het
Naip2 T C 13: 100,298,707 (GRCm39) E443G probably damaging Het
Ndor1 A G 2: 25,138,241 (GRCm39) F484L probably damaging Het
Neurl1b C T 17: 26,660,055 (GRCm39) T425I possibly damaging Het
Nomo1 G A 7: 45,730,828 (GRCm39) V1104M possibly damaging Het
Or13a19 G T 7: 139,903,121 (GRCm39) G170C probably damaging Het
Or13p8 T A 4: 118,583,850 (GRCm39) Y135* probably null Het
Or4c10b T C 2: 89,711,515 (GRCm39) V115A probably benign Het
Or5b95 A G 19: 12,657,600 (GRCm39) M43V probably benign Het
Or5p57 A G 7: 107,665,246 (GRCm39) V223A probably benign Het
Or8g20 T A 9: 39,396,247 (GRCm39) M98L probably benign Het
Or9i2 A G 19: 13,815,796 (GRCm39) V247A probably damaging Het
Parp4 A G 14: 56,873,274 (GRCm39) K1173E possibly damaging Het
Phkb T A 8: 86,697,623 (GRCm39) N477K probably damaging Het
Plekha7 T G 7: 115,739,926 (GRCm39) I812L possibly damaging Het
Plxnb1 A G 9: 108,941,651 (GRCm39) T1711A probably damaging Het
Polg A G 7: 79,109,857 (GRCm39) V382A probably benign Het
Pomt2 T A 12: 87,194,451 (GRCm39) probably benign Het
Prdm1 T C 10: 44,316,123 (GRCm39) H671R probably damaging Het
Prkca G A 11: 107,870,244 (GRCm39) R15C possibly damaging Het
Prkch T A 12: 73,746,968 (GRCm39) N282K probably damaging Het
Ptpn6 T C 6: 124,702,249 (GRCm39) R385G probably benign Het
Rad21 A T 15: 51,841,455 (GRCm39) M87K probably damaging Het
Safb2 ACTTCTTCT ACTTCT 17: 56,878,292 (GRCm39) probably benign Het
Scn1a A T 2: 66,103,689 (GRCm39) V1857E probably damaging Het
Shprh A G 10: 11,036,320 (GRCm39) T386A probably benign Het
Slco1b2 T C 6: 141,598,229 (GRCm39) L94P probably damaging Het
Snx29 A G 16: 11,236,728 (GRCm39) N90D probably benign Het
Stt3a A T 9: 36,662,592 (GRCm39) H222Q probably damaging Het
Tbc1d5 T C 17: 51,089,363 (GRCm39) T584A probably benign Het
Tktl2 T C 8: 66,964,664 (GRCm39) V74A probably damaging Het
Trpv1 A T 11: 73,130,481 (GRCm39) T196S probably benign Het
Ulk4 T C 9: 120,974,128 (GRCm39) E968G probably benign Het
Zbtb8a G T 4: 129,254,221 (GRCm39) T91K probably damaging Het
Zfp317 T A 9: 19,559,163 (GRCm39) V459E probably damaging Het
Zfp790 A G 7: 29,529,387 (GRCm39) T691A 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
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
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'- ACATGCAGTTTCACGGCTGG -3'
(R):5'- CAAACTTTATATGCCCCAGTACAG -3'

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