Incidental Mutation 'R0441:Tpp2'
ID 39131
Institutional Source Beutler Lab
Gene Symbol Tpp2
Ensembl Gene ENSMUSG00000041763
Gene Name tripeptidyl peptidase II
Synonyms TppII
MMRRC Submission 038642-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.607) question?
Stock # R0441 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 43973130-44042160 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44029722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 68 (N68D)
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: N1015D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000085244
Gene: ENSMUSG00000041763
AA Change: N1015D

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: N1002D

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000139918
Gene: ENSMUSG00000041763
AA Change: N1002D

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: N68D

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140313
Gene: ENSMUSG00000041763
AA Change: N68D

DomainStartEndE-ValueType
low complexity region 70 86 N/A INTRINSIC
PDB:3LXU|X 87 281 3e-19 PDB
Meta Mutation Damage Score 0.0799 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 100% (71/71)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,092,689 (GRCm39) probably benign Het
Adgrv1 G A 13: 81,545,345 (GRCm39) R5647* probably null Het
Agbl2 C T 2: 90,627,827 (GRCm39) R211* probably null Het
Akap9 A G 5: 4,011,714 (GRCm39) K806E probably benign Het
Ampd1 C G 3: 102,995,794 (GRCm39) L235V probably benign Het
Atcay T C 10: 81,060,294 (GRCm39) D14G possibly damaging Het
Atp8b4 C T 2: 126,220,626 (GRCm39) probably benign Het
Bmp8b T C 4: 123,018,308 (GRCm39) V393A probably damaging Het
Brca2 T A 5: 150,465,322 (GRCm39) D1695E probably damaging Het
Cdh15 A G 8: 123,587,705 (GRCm39) I210V probably damaging Het
Cep250 T C 2: 155,813,924 (GRCm39) L564P possibly damaging Het
Cmpk1 T C 4: 114,822,220 (GRCm39) T110A probably benign Het
Cpsf3 T G 12: 21,350,085 (GRCm39) I268S probably damaging Het
Csmd2 C T 4: 128,414,023 (GRCm39) A2621V probably benign Het
Cyp2c40 T C 19: 39,795,607 (GRCm39) probably benign Het
D430041D05Rik T A 2: 103,998,292 (GRCm39) Y1837F probably damaging Het
Degs2 A G 12: 108,668,469 (GRCm39) F10S probably damaging Het
Dytn T A 1: 63,717,933 (GRCm39) probably benign Het
Elfn2 G C 15: 78,557,795 (GRCm39) P251A probably benign Het
Epg5 T C 18: 78,066,486 (GRCm39) probably benign Het
Evc2 A G 5: 37,574,811 (GRCm39) D1022G probably damaging Het
Fat3 A G 9: 15,856,304 (GRCm39) probably benign Het
Fbn1 A T 2: 125,151,675 (GRCm39) probably null Het
Gm15217 T C 14: 46,620,676 (GRCm39) probably null Het
Gm17611 A T 13: 50,130,435 (GRCm39) noncoding transcript Het
Gpld1 G A 13: 25,146,303 (GRCm39) W182* probably null Het
Gsc T C 12: 104,439,353 (GRCm39) I8V probably damaging Het
Hck A G 2: 152,976,052 (GRCm39) K197R probably benign Het
Kat6b T C 14: 21,720,301 (GRCm39) L1551P probably damaging Het
Lrch1 C T 14: 75,184,985 (GRCm39) G39D possibly damaging Het
Macf1 T C 4: 123,259,148 (GRCm39) probably null Het
Mroh9 A T 1: 162,888,331 (GRCm39) V248E probably damaging Het
Mrps15 C A 4: 125,945,210 (GRCm39) probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ndufa5 T C 6: 24,522,750 (GRCm39) T31A probably benign Het
Nfyb A G 10: 82,586,594 (GRCm39) V190A possibly damaging Het
Nos2 A G 11: 78,819,409 (GRCm39) I40M probably benign Het
Or2f2 T C 6: 42,767,108 (GRCm39) I45T probably damaging Het
Or5ar1 A T 2: 85,671,859 (GRCm39) I92N probably damaging Het
Or8k37 A T 2: 86,469,674 (GRCm39) I126K probably damaging Het
Otog T C 7: 45,955,301 (GRCm39) S564P probably damaging Het
Pak5 C T 2: 135,958,549 (GRCm39) A180T probably benign Het
Pappa2 T C 1: 158,590,628 (GRCm39) probably benign Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Plxnc1 T A 10: 94,632,344 (GRCm39) N1431I probably damaging Het
Prph A T 15: 98,955,319 (GRCm39) I429L probably damaging Het
Prrc2a A G 17: 35,368,664 (GRCm39) probably benign Het
Pwwp3a A T 10: 80,064,859 (GRCm39) N30Y probably damaging Het
Rad54b A T 4: 11,563,394 (GRCm39) T18S probably benign Het
Ranbp2 A G 10: 58,321,590 (GRCm39) E2629G probably benign Het
Rec114 G A 9: 58,565,053 (GRCm39) T201I probably benign Het
Rspo1 G A 4: 124,885,190 (GRCm39) R22Q probably benign Het
Sec23b A G 2: 144,423,917 (GRCm39) E522G probably damaging Het
Sgsm3 G A 15: 80,893,971 (GRCm39) R502H possibly damaging Het
Sh3pxd2b C A 11: 32,373,023 (GRCm39) A730D possibly damaging Het
Spag4 A G 2: 155,909,899 (GRCm39) D187G probably damaging Het
Srgap2 G A 1: 131,264,175 (GRCm39) T465I probably damaging Het
St3gal6 G T 16: 58,293,818 (GRCm39) A237E probably damaging Het
St3gal6 C A 16: 58,293,816 (GRCm39) A238S probably damaging Het
Tecpr1 C A 5: 144,132,759 (GRCm39) R1159L probably benign Het
Tmem63b A T 17: 45,977,241 (GRCm39) probably null Het
Tmtc1 T A 6: 148,317,256 (GRCm39) D78V probably damaging Het
Ttn C A 2: 76,770,269 (GRCm39) A2641S probably benign Het
Uimc1 T C 13: 55,241,032 (GRCm39) K19E probably damaging Het
Utrn T A 10: 12,564,038 (GRCm39) E1274V probably null Het
Vmn2r102 A T 17: 19,914,630 (GRCm39) I732F probably damaging Het
Wrn A T 8: 33,758,778 (GRCm39) M792K probably benign Het
Zfp451 A G 1: 33,816,126 (GRCm39) I608T 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
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'- TCAGGCAGGCACAATCCATGTTAC -3'
(R):5'- GCTCAGTGGGAACTCACAATGCTC -3'

Sequencing Primer
(F):5'- CAATCCATGTTACAAAACTCTTAGC -3'
(R):5'- gtccacagaagccagaagag -3'
Posted On 2013-05-23