Mutagenetix > Incidental Mutation

Incidental Mutation 'R7804:Tpp2'

600648

Institutional Source

Beutler Lab

Gene Symbol

Tpp2

Ensembl Gene

ENSMUSG00000041763

Gene Name

tripeptidyl peptidase II

Synonyms

TppII

MMRRC Submission

045859-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.589) question?

Stock #

R7804 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43973130-44042160 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44022441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 946 (N946K)

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: N946K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000085244
Gene: ENSMUSG00000041763
AA Change: N946K

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Peptidase_S8	39	509	4.3e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188313
AA Change: N946K

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139918
Gene: ENSMUSG00000041763
AA Change: N946K

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000140313
Gene: ENSMUSG00000041763

Domain	Start	End	E-Value	Type
low complexity region	70	86	N/A	INTRINSIC
PDB:3LXU\|X	87	281	3e-19	PDB

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

95% (55/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	GTGTGTATGTGT	GTGTGT	11: 43,478,241 (GRCm39)		probably benign	Het
Ago4	A	T	4: 126,406,423 (GRCm39)	C296S	probably benign	Het
Apbb1	A	G	7: 105,215,807 (GRCm39)	L401P	probably damaging	Het
Cacnb2	C	A	2: 14,972,848 (GRCm39)	P252T	probably benign	Het
Ctnna2	C	T	6: 77,618,357 (GRCm39)	V202I	probably benign	Het
Dapk1	A	T	13: 60,873,153 (GRCm39)	I352F	probably benign	Het
Dexi	T	C	16: 10,360,349 (GRCm39)	D69G	possibly damaging	Het
Dlg5	T	C	14: 24,215,388 (GRCm39)	E645G	possibly damaging	Het
Dnah3	A	G	7: 119,551,841 (GRCm39)	I2826T	probably damaging	Het
Dnah3	A	G	7: 119,610,235 (GRCm39)	W1734R	probably damaging	Het
Dtna	A	G	18: 23,728,666 (GRCm39)	K287R	probably damaging	Het
Elovl5	A	G	9: 77,887,105 (GRCm39)		probably null	Het
Ess2	T	A	16: 17,729,031 (GRCm39)	I47F	probably damaging	Het
Fam222b	C	A	11: 78,044,979 (GRCm39)	P180Q	probably benign	Het
Fat3	C	T	9: 15,901,888 (GRCm39)	V3046I	probably benign	Het
Fem1a	A	G	17: 56,565,068 (GRCm39)	D387G	probably damaging	Het
Frmd5	A	G	2: 121,422,225 (GRCm39)	Y33H	probably damaging	Het
Gucy2g	A	T	19: 55,216,584 (GRCm39)	L464H	probably benign	Het
Ints2	T	C	11: 86,103,489 (GRCm39)	E1189G	possibly damaging	Het
Itgb4	T	C	11: 115,894,510 (GRCm39)	V1355A	probably damaging	Het
Lepr	A	T	4: 101,639,783 (GRCm39)	S750C	probably damaging	Het
Lingo1	T	C	9: 56,526,798 (GRCm39)	D603G	probably benign	Het
Map4k3	A	C	17: 80,922,499 (GRCm39)	V474G	probably damaging	Het
Myl4	T	A	11: 104,475,787 (GRCm39)	V167E	probably damaging	Het
Naa25	T	C	5: 121,562,652 (GRCm39)	V478A	probably benign	Het
Neurl4	T	A	11: 69,796,700 (GRCm39)	L487H	probably benign	Het
Nkx2-9	C	T	12: 56,658,917 (GRCm39)	R99H	probably damaging	Het
Or4c110	C	G	2: 88,831,855 (GRCm39)	R259P	unknown	Het
Or52x1	A	T	7: 104,853,367 (GRCm39)	M61K	probably damaging	Het
Or6c76	A	G	10: 129,612,091 (GRCm39)	I103V	probably benign	Het
Pcdhga9	A	G	18: 37,871,132 (GRCm39)	I320M	probably damaging	Het
Pi15	T	A	1: 17,695,137 (GRCm39)	C251*	probably null	Het
Pkhd1l1	A	T	15: 44,460,534 (GRCm39)	K4248*	probably null	Het
Prkg1	C	T	19: 30,556,032 (GRCm39)	V625I	probably benign	Het
Prkg1	G	A	19: 30,602,170 (GRCm39)	A362V	possibly damaging	Het
Prol1	C	T	5: 88,476,264 (GRCm39)	T218I	unknown	Het
Ptpro	G	A	6: 137,376,599 (GRCm39)		probably null	Het
Rev3l	T	A	10: 39,699,481 (GRCm39)	I1326K	probably benign	Het
Shank1	C	A	7: 43,962,308 (GRCm39)	R60S	unknown	Het
Slc24a2	A	G	4: 86,909,774 (GRCm39)	V648A	probably damaging	Het
Slc35d3	T	C	10: 19,725,116 (GRCm39)	T247A	probably damaging	Het
Specc1	C	T	11: 62,096,223 (GRCm39)	T895I	probably damaging	Het
Spta1	A	G	1: 174,023,471 (GRCm39)	E626G	possibly damaging	Het
Syngr2	C	A	11: 117,703,401 (GRCm39)	S72R	possibly damaging	Het
Synj2	T	A	17: 6,069,809 (GRCm39)	L490Q	unknown	Het
Tbc1d9	T	C	8: 83,963,341 (GRCm39)	L351P	possibly damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Themis3	G	A	17: 66,862,605 (GRCm39)	T451I	probably benign	Het
Tia1	T	C	6: 86,401,364 (GRCm39)	S146P	probably benign	Het
Tpr	A	T	1: 150,308,310 (GRCm39)	R1688S	probably damaging	Het
Trav12-1	A	G	14: 53,775,988 (GRCm39)	Q47R	possibly damaging	Het
Ttll9	G	A	2: 152,844,278 (GRCm39)		probably null	Het
Ttn	G	A	2: 76,537,585 (GRCm39)	T34781M	possibly damaging	Het
V1ra8	A	G	6: 90,180,298 (GRCm39)	Y167C	probably damaging	Het
Vegfb	T	C	19: 6,963,707 (GRCm39)	D84G	probably damaging	Het
Vmn2r14	A	T	5: 109,368,324 (GRCm39)	L223M	probably benign	Het
Wdr26	A	G	1: 181,010,387 (GRCm39)	I554T	probably damaging	Het

Other mutations in Tpp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TCGATTACAGATTCGTCATGAGC -3'
(R):5'- TCAAGGAGCCTGCAAGGTAG -3'

Sequencing Primer
(F):5'- CAGATTCGTCATGAGCAAATCAGTG -3'
(R):5'- GCCCCCTTAGGTATTCTAATGAGAG -3'

Posted On

2019-11-26