Incidental Mutation 'R7316:Tpp2'
ID 567929
Institutional Source Beutler Lab
Gene Symbol Tpp2
Ensembl Gene ENSMUSG00000041763
Gene Name tripeptidyl peptidase II
Synonyms TppII
MMRRC Submission 045413-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.589) question?
Stock # R7316 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 43973130-44042160 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44009591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 475 (V475A)
Ref Sequence ENSEMBL: ENSMUSP00000085244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087933] [ENSMUST00000188302] [ENSMUST00000188313] [ENSMUST00000189388]
AlphaFold Q64514
Predicted Effect probably benign
Transcript: ENSMUST00000087933
AA Change: V475A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000085244
Gene: ENSMUSG00000041763
AA Change: V475A

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: ENSMUST00000186441
Predicted Effect probably benign
Transcript: ENSMUST00000188302
AA Change: V475A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000140474
Gene: ENSMUSG00000041763
AA Change: V475A

DomainStartEndE-ValueType
Pfam:Peptidase_S8 39 509 4.3e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188313
AA Change: V475A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000139918
Gene: ENSMUSG00000041763
AA Change: V475A

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
AA Change: V475A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140562
Gene: ENSMUSG00000041763
AA Change: V475A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (93/94)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik G A 3: 89,969,020 (GRCm39) M214I probably benign Het
Aadat G T 8: 60,979,668 (GRCm39) G177C probably damaging Het
Adam4 T C 12: 81,466,498 (GRCm39) I708V probably benign Het
Aip T C 19: 4,164,793 (GRCm39) N264S probably benign Het
Alox8 A T 11: 69,077,064 (GRCm39) D505E probably benign Het
Ap3d1 A T 10: 80,553,693 (GRCm39) I518N probably damaging Het
Arf3 G A 15: 98,638,874 (GRCm39) Q128* probably null Het
Asph A G 4: 9,537,746 (GRCm39) V344A probably benign Het
Birc6 A T 17: 74,911,489 (GRCm39) R1500S probably damaging Het
Bptf G A 11: 106,963,935 (GRCm39) T1753I probably damaging Het
Bptf A T 11: 107,001,740 (GRCm39) C457* probably null Het
Brpf3 T A 17: 29,033,660 (GRCm39) I568N probably damaging Het
Btnl4 G C 17: 34,688,031 (GRCm39) N582K probably benign Het
Camsap3 C A 8: 3,654,648 (GRCm39) P773T possibly damaging Het
Capsl A T 15: 9,461,888 (GRCm39) I95L probably benign Het
Cd96 T A 16: 45,890,016 (GRCm39) M336L probably benign Het
Cdan1 A T 2: 120,558,813 (GRCm39) probably null Het
Chd3 A T 11: 69,236,394 (GRCm39) L1939Q probably damaging Het
Cngb3 A T 4: 19,425,599 (GRCm39) Y469F probably benign Het
Cp T C 3: 20,026,916 (GRCm39) L448P probably damaging Het
Csnk1g2 T C 10: 80,475,687 (GRCm39) V418A possibly damaging Het
Dag1 A T 9: 108,086,701 (GRCm39) S147T probably benign Het
Dnajc25 T A 4: 59,017,693 (GRCm39) Y117* probably null Het
Dpysl2 A T 14: 67,100,044 (GRCm39) M64K possibly damaging Het
Dus3l A G 17: 57,072,551 (GRCm39) H38R possibly damaging Het
Eme2 G A 17: 25,113,840 (GRCm39) R62W probably damaging Het
Enox1 A T 14: 77,958,298 (GRCm39) M616L probably benign Het
Epb41l4b T A 4: 57,019,867 (GRCm39) T708S probably benign Het
Fat2 A T 11: 55,176,893 (GRCm39) I1534N probably damaging Het
Fer1l5 A G 1: 36,457,197 (GRCm39) T1649A probably benign Het
Fmo9 A G 1: 166,491,215 (GRCm39) V421A probably benign Het
Fsip2 A C 2: 82,820,035 (GRCm39) Y5256S possibly damaging Het
Gapvd1 G A 2: 34,594,681 (GRCm39) L804F probably damaging Het
Garin1a A G 6: 29,286,101 (GRCm39) M187V probably benign Het
Gen1 A G 12: 11,291,470 (GRCm39) V838A probably benign Het
Gnptab A T 10: 88,236,572 (GRCm39) N59I probably damaging Het
Grm5 A G 7: 87,624,473 (GRCm39) T347A probably benign Het
Gsdmc3 T C 15: 63,730,251 (GRCm39) N438D possibly damaging Het
Hmcn1 A G 1: 150,608,697 (GRCm39) L1495S probably damaging Het
Ift70a1 A T 2: 75,811,201 (GRCm39) L294Q probably damaging Het
Islr2 T C 9: 58,105,250 (GRCm39) E714G probably damaging Het
Larp4 A T 15: 99,898,898 (GRCm39) M430L probably benign Het
Lpcat2b A G 5: 107,580,979 (GRCm39) I103V not run Het
Lrguk C T 6: 34,080,191 (GRCm39) S1142F unknown Het
Lrit2 G T 14: 36,790,815 (GRCm39) V165F probably damaging Het
Mast3 T A 8: 71,232,432 (GRCm39) I1182F probably damaging Het
Mcm6 C T 1: 128,287,245 (GRCm39) D20N probably damaging Het
Mief1 A G 15: 80,133,598 (GRCm39) I218M probably damaging Het
Mmp2 A G 8: 93,567,038 (GRCm39) T453A probably benign Het
Ms4a18 T A 19: 10,979,360 (GRCm39) S219C probably damaging Het
Myo5c A T 9: 75,176,920 (GRCm39) T622S probably benign Het
Neb A T 2: 52,161,450 (GRCm39) M2114K possibly damaging Het
Nemp1 T A 10: 127,525,212 (GRCm39) L122* probably null Het
Nkx2-1 T C 12: 56,581,583 (GRCm39) N88S probably benign Het
Nr2c2 T A 6: 92,131,444 (GRCm39) C202S probably damaging Het
Ntsr1 A C 2: 180,142,545 (GRCm39) D112A probably damaging Het
Or14j3 A G 17: 37,901,026 (GRCm39) S73P probably damaging Het
Or56a41 A T 7: 104,740,107 (GRCm39) H246Q probably damaging Het
Or6n2 A T 1: 173,897,727 (GRCm39) I288F probably benign Het
Osbp2 C A 11: 3,676,431 (GRCm39) R73L probably damaging Het
Pbp2 T A 6: 135,286,830 (GRCm39) E172D probably damaging Het
Pcdhgc3 T C 18: 37,941,501 (GRCm39) I634T probably benign Het
Pcnx1 T C 12: 82,042,323 (GRCm39) S38P probably benign Het
Phyh A T 2: 4,940,855 (GRCm39) K252* probably null Het
Plcb3 C T 19: 6,943,753 (GRCm39) probably null Het
Ppargc1b T C 18: 61,440,909 (GRCm39) S670G probably damaging Het
Prorp A G 12: 55,351,429 (GRCm39) D246G probably damaging Het
Ptprc T C 1: 137,992,509 (GRCm39) Y1067C probably damaging Het
Pwwp2b A C 7: 138,836,140 (GRCm39) E527A probably benign Het
Pzp T C 6: 128,490,736 (GRCm39) D409G probably damaging Het
Rbfox2 A T 15: 77,016,929 (GRCm39) N148K possibly damaging Het
Resf1 T C 6: 149,228,136 (GRCm39) L394P probably damaging Het
Rps24 T C 14: 24,540,757 (GRCm39) probably benign Het
Slc35e4 T C 11: 3,862,584 (GRCm39) K202E probably damaging Het
Spata7 C T 12: 98,624,871 (GRCm39) R258W probably damaging Het
Spen A T 4: 141,204,365 (GRCm39) S1421T unknown Het
Svep1 T A 4: 58,068,763 (GRCm39) I3008F possibly damaging Het
Tbc1d1 G T 5: 64,492,620 (GRCm39) probably null Het
Thsd4 T A 9: 59,894,642 (GRCm39) H772L probably benign Het
Tle1 T C 4: 72,036,529 (GRCm39) I769V probably benign Het
Tm4sf19 T A 16: 32,226,466 (GRCm39) S127T possibly damaging Het
Tmprss9 C A 10: 80,730,813 (GRCm39) R780S probably benign Het
Ttn A G 2: 76,692,509 (GRCm39) V471A Het
Ttn A T 2: 76,597,257 (GRCm39) N19885K probably damaging Het
Tub A T 7: 108,629,378 (GRCm39) T478S possibly damaging Het
Ube2q2l T C 6: 136,378,276 (GRCm39) K185E possibly damaging Het
Vmn2r88 A T 14: 51,651,712 (GRCm39) Y342F Het
Wdr18 C A 10: 79,801,059 (GRCm39) D157E probably benign Het
Xrra1 A T 7: 99,525,423 (GRCm39) probably null Het
Zc3h4 G C 7: 16,169,260 (GRCm39) G1198A unknown Het
Zfp568 A T 7: 29,721,681 (GRCm39) I209F possibly damaging Het
Zfp787 C A 7: 6,158,523 (GRCm39) probably benign Het
Zfp974 A T 7: 27,609,863 (GRCm39) Y621N possibly damaging Het
Zyg11b A G 4: 108,107,699 (GRCm39) I493T possibly 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
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'- AAGTACTTGTGTGATGCAAGC -3'
(R):5'- CCACATCTAAAGTTTAGACATGCTG -3'

Sequencing Primer
(F):5'- GTGTGATGCAAGCAGTTTAAATC -3'
(R):5'- GACATGCTGAATCACTATTACAGAGC -3'
Posted On 2019-06-26