Incidental Mutation 'R5049:Tpp2'
ID 394493
Institutional Source Beutler Lab
Gene Symbol Tpp2
Ensembl Gene ENSMUSG00000041763
Gene Name tripeptidyl peptidase II
Synonyms TppII
MMRRC Submission 042639-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.589) question?
Stock # R5049 (G1)
Quality Score 81
Status Validated
Chromosome 1
Chromosomal Location 43973130-44042160 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44040633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 298 (V298A)
Ref Sequence ENSEMBL: ENSMUSP00000140313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087933] [ENSMUST00000188313] [ENSMUST00000190207]
AlphaFold Q64514
Predicted Effect probably benign
Transcript: ENSMUST00000087933
SMART Domains Protein: ENSMUSP00000085244
Gene: ENSMUSG00000041763

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 noncoding transcript
Transcript: ENSMUST00000187115
Predicted Effect probably benign
Transcript: ENSMUST00000188313
SMART Domains Protein: ENSMUSP00000139918
Gene: ENSMUSG00000041763

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 possibly damaging
Transcript: ENSMUST00000190207
AA Change: V298A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140313
Gene: ENSMUSG00000041763
AA Change: V298A

DomainStartEndE-ValueType
low complexity region 70 86 N/A INTRINSIC
PDB:3LXU|X 87 281 3e-19 PDB
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 95.8%
  • 20x: 90.4%
Validation Efficiency 97% (89/92)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,321,698 (GRCm39) S76P probably damaging Het
Acot8 A G 2: 164,641,610 (GRCm39) probably benign Het
Angptl7 A G 4: 148,582,468 (GRCm39) F143L probably benign Het
Atxn7l1 A G 12: 33,408,686 (GRCm39) T283A probably benign Het
Bltp1 T A 3: 37,094,655 (GRCm39) probably benign Het
Bltp1 T C 3: 37,095,539 (GRCm39) M1016T probably damaging Het
Brd3 G T 2: 27,340,589 (GRCm39) probably benign Het
C130026L21Rik T A 5: 111,729,702 (GRCm39) noncoding transcript Het
Cbr4 T G 8: 61,948,238 (GRCm39) probably null Het
Ccl19 A G 4: 42,756,268 (GRCm39) probably null Het
Ccl2 G T 11: 81,927,333 (GRCm39) C34F probably damaging Het
Dnah12 A T 14: 26,456,852 (GRCm39) T873S probably benign Het
Dnah2 T C 11: 69,338,992 (GRCm39) N3118S probably damaging Het
Elapor2 A G 5: 9,478,488 (GRCm39) T451A probably damaging Het
Epb41l1 C A 2: 156,366,859 (GRCm39) P564Q possibly damaging Het
Extl3 A T 14: 65,313,481 (GRCm39) M567K probably benign Het
Fhip2a T C 19: 57,374,737 (GRCm39) I704T possibly damaging Het
Foxf2 T C 13: 31,811,158 (GRCm39) S366P probably benign Het
Gamt T A 10: 80,094,788 (GRCm39) T186S probably benign Het
Gcn1 T A 5: 115,744,730 (GRCm39) M1642K probably damaging Het
Gm21738 T A 14: 19,415,957 (GRCm38) Y194F probably benign Het
Golga1 A T 2: 38,937,747 (GRCm39) M115K probably damaging Het
Hapstr1 T A 16: 8,661,073 (GRCm39) D183E probably damaging Het
Herc3 A G 6: 58,871,524 (GRCm39) probably null Het
Hes2 C A 4: 152,244,331 (GRCm39) L39I possibly damaging Het
Hopx C A 5: 77,242,899 (GRCm39) probably benign Het
Idi1 C T 13: 8,938,078 (GRCm39) P175S probably damaging Het
Ifit1bl1 A T 19: 34,571,481 (GRCm39) C325* probably null Het
Ighv7-3 T C 12: 114,116,953 (GRCm39) I70V probably benign Het
Kcnq3 T C 15: 66,157,746 (GRCm39) T110A probably benign Het
Kif5a T C 10: 127,075,708 (GRCm39) D451G possibly damaging Het
Lama3 A G 18: 12,715,668 (GRCm39) E1708G probably benign Het
Lrriq4 T A 3: 30,705,086 (GRCm39) D371E probably damaging Het
Lyst T A 13: 13,810,649 (GRCm39) V773E probably damaging Het
Map4 T A 9: 109,908,882 (GRCm39) L23* probably null Het
Mapkbp1 G T 2: 119,845,982 (GRCm39) probably benign Het
Mrpl30 A T 1: 37,936,791 (GRCm39) D52V possibly damaging Het
Or10ag57 A T 2: 87,219,002 (GRCm39) T318S probably benign Het
Or13j1 A T 4: 43,706,259 (GRCm39) L103Q probably damaging Het
Pard3b T A 1: 62,200,320 (GRCm39) H286Q probably benign Het
Parp4 A G 14: 56,873,188 (GRCm39) K1144R possibly damaging Het
Pdcd11 C A 19: 47,095,554 (GRCm39) S625R probably benign Het
Pkhd1l1 T C 15: 44,321,012 (GRCm39) S22P probably benign Het
Prss32 A T 17: 24,078,221 (GRCm39) E302D possibly damaging Het
Prss45 A G 9: 110,669,538 (GRCm39) K205E probably damaging Het
Puf60 T A 15: 75,942,323 (GRCm39) I500F probably damaging Het
Ryr3 A T 2: 112,470,516 (GRCm39) I4623N probably damaging Het
Sh3bp5l T A 11: 58,228,950 (GRCm39) probably benign Het
Slc3a1 T G 17: 85,340,273 (GRCm39) Y232D probably damaging Het
Slc8a3 A G 12: 81,260,906 (GRCm39) Y608H probably damaging Het
Socs7 G T 11: 97,269,469 (GRCm39) R429L probably benign Het
Sorcs3 C A 19: 48,748,390 (GRCm39) N786K possibly damaging Het
Sp4 A T 12: 118,218,207 (GRCm39) M680K probably benign Het
Tas2r131 T C 6: 132,934,540 (GRCm39) T90A probably damaging Het
Tasor2 A T 13: 3,624,000 (GRCm39) H1983Q probably benign Het
Tbx21 T C 11: 97,005,536 (GRCm39) H143R probably benign Het
Tg T A 15: 66,699,231 (GRCm39) C833* probably null Het
Tmem245 A G 4: 56,925,057 (GRCm39) S355P probably benign Het
Tmem86b G A 7: 4,631,465 (GRCm39) P191S possibly damaging Het
Tnc A G 4: 63,936,223 (GRCm39) C238R probably damaging Het
Tnn T A 1: 159,968,308 (GRCm39) E361D probably benign Het
Trav7-6 A G 14: 53,954,536 (GRCm39) N22S probably damaging Het
Trim75 T C 8: 65,435,091 (GRCm39) probably null Het
Trrap T A 5: 144,763,527 (GRCm39) I2492N probably damaging Het
Ufl1 G T 4: 25,254,773 (GRCm39) A561E probably benign Het
Uqcc1 A G 2: 155,752,341 (GRCm39) V86A probably damaging Het
Vmn1r184 A G 7: 25,966,793 (GRCm39) I180V possibly damaging Het
Vmn1r185 A G 7: 26,310,920 (GRCm39) F195S possibly damaging Het
Vmn2r4 A C 3: 64,306,019 (GRCm39) probably null Het
Vmn2r87 T C 10: 130,308,298 (GRCm39) T647A probably damaging Het
Vps13d A T 4: 144,813,336 (GRCm39) H198Q probably damaging Het
Wdfy4 T C 14: 32,874,627 (GRCm39) T154A possibly damaging Het
Xirp2 A G 2: 67,347,478 (GRCm39) M3240V probably benign Het
Zfp101 T C 17: 33,600,872 (GRCm39) R295G possibly damaging Het
Zfp619 G A 7: 39,184,938 (GRCm39) V323I probably benign Het
Zfy1 A T Y: 726,004 (GRCm39) I587N possibly damaging Het
Zswim6 C T 13: 107,863,110 (GRCm39) noncoding transcript 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
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'- CTTCTGTGAAAGCCTCATTTCATTG -3'
(R):5'- TCCTTCATATCTCAAGCTAACTCACAG -3'

Sequencing Primer
(F):5'- AGCCTCATTTCATTGTTAAAGCC -3'
(R):5'- AAGATCCAACTAGTTTTCCTTTGC -3'
Posted On 2016-06-15