Incidental Mutation 'R7363:Tpp2'
ID 571442
Institutional Source Beutler Lab
Gene Symbol Tpp2
Ensembl Gene ENSMUSG00000041763
Gene Name tripeptidyl peptidase II
Synonyms TppII
MMRRC Submission 045448-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.589) question?
Stock # R7363 (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 G at 44024582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 987 (S987A)
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: S987A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000085244
Gene: ENSMUSG00000041763
AA Change: S987A

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
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 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: S40A

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140313
Gene: ENSMUSG00000041763
AA Change: S40A

DomainStartEndE-ValueType
low complexity region 70 86 N/A INTRINSIC
PDB:3LXU|X 87 281 3e-19 PDB
Meta Mutation Damage Score 0.0604 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (72/72)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T A 2: 35,244,782 (GRCm39) N190I probably damaging Het
Ablim1 G T 19: 57,204,173 (GRCm39) L73I probably benign Het
Adamts4 A T 1: 171,086,608 (GRCm39) Q800L probably benign Het
Atm A T 9: 53,376,598 (GRCm39) I2014N probably damaging Het
Atp2a1 A G 7: 126,062,061 (GRCm39) C12R possibly damaging Het
B3galnt1 A T 3: 69,483,157 (GRCm39) Y35N probably damaging Het
Bnc2 A T 4: 84,210,308 (GRCm39) M687K probably benign Het
Cacna2d4 A G 6: 119,320,939 (GRCm39) Y917C probably damaging Het
Cemip2 T C 19: 21,833,575 (GRCm39) F1338L probably benign Het
Ces2e A G 8: 105,659,632 (GRCm39) probably null Het
Cldn23 A G 8: 36,292,659 (GRCm39) probably null Het
Cntn5 G T 9: 10,172,021 (GRCm39) S54R probably benign Het
Cyria T A 12: 12,390,665 (GRCm39) probably null Het
Dido1 G T 2: 180,304,310 (GRCm39) S1198* probably null Het
Dnah12 A G 14: 26,445,766 (GRCm39) M776V probably benign Het
Dnah14 A G 1: 181,518,089 (GRCm39) probably null Het
Dnttip1 GGGCCGGC GGGC 2: 164,599,605 (GRCm39) probably null Het
Dusp28 A T 1: 92,834,861 (GRCm39) T29S probably benign Het
Erich1 A T 8: 14,083,688 (GRCm39) S127R probably benign Het
Fam151a T A 4: 106,602,681 (GRCm39) L200H probably damaging Het
Fbxw8 A T 5: 118,263,057 (GRCm39) H207Q probably damaging Het
Fgf22 A G 10: 79,592,676 (GRCm39) E116G probably benign Het
Gapvd1 C A 2: 34,602,207 (GRCm39) V647F probably benign Het
Garin4 A T 1: 190,895,910 (GRCm39) S244R probably damaging Het
Gja4 T A 4: 127,206,487 (GRCm39) Y92F probably damaging Het
Gtf3c2 G A 5: 31,327,600 (GRCm39) R288W probably damaging Het
Hira G T 16: 18,716,532 (GRCm39) R99L possibly damaging Het
Ighv16-1 C T 12: 114,032,721 (GRCm39) G27D probably damaging Het
Igkv1-133 C T 6: 67,702,395 (GRCm39) P38S probably benign Het
Igkv4-59 T C 6: 69,415,396 (GRCm39) Y53C probably damaging Het
Il23a T C 10: 128,133,020 (GRCm39) E113G probably damaging Het
Kcnip1 A G 11: 33,584,589 (GRCm39) V188A probably benign Het
L3mbtl3 T C 10: 26,216,850 (GRCm39) K155E unknown Het
Lancl2 T G 6: 57,699,664 (GRCm39) C169G probably benign Het
Lrrc26 A G 2: 25,180,581 (GRCm39) D194G probably benign Het
Lrrfip1 C T 1: 91,050,842 (GRCm39) A545V probably benign Het
Lrtm1 T C 14: 28,743,850 (GRCm39) F106S probably damaging Het
Lypd2 A T 15: 74,604,848 (GRCm39) M49K probably damaging Het
Mbd1 A C 18: 74,406,357 (GRCm39) D63A probably damaging Het
Mdn1 T C 4: 32,691,729 (GRCm39) F990L probably damaging Het
Mtfr1l T C 4: 134,256,577 (GRCm39) E196G probably benign Het
Myh10 A G 11: 68,705,874 (GRCm39) T2007A probably benign Het
Nckap1 G A 2: 80,370,512 (GRCm39) R393C probably damaging Het
Nup205 C T 6: 35,209,508 (GRCm39) T1605M probably benign Het
Or1e33 T C 11: 73,738,741 (GRCm39) D70G probably damaging Het
Or5j3 GTACTTTTT GT 2: 86,128,338 (GRCm39) probably null Het
Pgap2 T A 7: 101,875,467 (GRCm39) probably null Het
Pitrm1 A G 13: 6,619,387 (GRCm39) S741G probably benign Het
Plcd4 A T 1: 74,590,231 (GRCm39) S155C probably null Het
Poc5 A T 13: 96,540,925 (GRCm39) T365S possibly damaging Het
Ppp2r5c G A 12: 110,489,041 (GRCm39) A71T probably benign Het
Prdm6 T A 18: 53,598,199 (GRCm39) I187N possibly damaging Het
Pxk A G 14: 8,152,118 (GRCm38) Q478R probably benign Het
Rgl1 T C 1: 152,394,914 (GRCm39) Y718C probably damaging Het
Ring1 G T 17: 34,243,336 (GRCm39) T2K possibly damaging Het
Sdk1 A G 5: 142,173,897 (GRCm39) S2022G probably benign Het
Sec61a1 C A 6: 88,492,533 (GRCm39) V32F probably benign Het
Sv2b G A 7: 74,797,402 (GRCm39) P331S probably damaging Het
Syne1 T C 10: 5,090,970 (GRCm39) S795G possibly damaging Het
Tmod2 T C 9: 75,484,023 (GRCm39) E309G probably damaging Het
Trim75 G C 8: 65,435,539 (GRCm39) H304D probably damaging Het
Trp53bp2 G T 1: 182,272,231 (GRCm39) D447Y probably damaging Het
Ube3a A G 7: 58,936,751 (GRCm39) K697E probably benign Het
Vmn2r13 T A 5: 109,339,909 (GRCm39) H22L probably benign Het
Vmn2r4 G A 3: 64,314,432 (GRCm39) S183F probably damaging Het
Vwa8 T C 14: 79,256,147 (GRCm39) Y721H probably benign Het
Wbp1l C T 19: 46,642,569 (GRCm39) P190L possibly damaging Het
Zcchc4 A T 5: 52,942,510 (GRCm39) Q105L possibly damaging Het
Zfp236 T C 18: 82,639,456 (GRCm39) R1264G probably damaging Het
Zfpm2 T A 15: 40,616,413 (GRCm39) N54K probably damaging Het
Zkscan3 C T 13: 21,571,992 (GRCm39) G547S 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
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
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'- AAATTGGCATGGTAGTGCTGC -3'
(R):5'- GACACTATGTCAATACTGCTTGTAGG -3'

Sequencing Primer
(F):5'- CATGGTAGTGCTGCTTTCTTTAAAAG -3'
(R):5'- TGTCAATACTGCTTGTAGGTATTAAC -3'
Posted On 2019-09-13