Mutagenetix > Incidental Mutation

Incidental Mutation 'R1118:Tpp2'

97475

Institutional Source

Beutler Lab

Gene Symbol

Tpp2

Ensembl Gene

ENSMUSG00000041763

Gene Name

tripeptidyl peptidase II

Synonyms

TppII

MMRRC Submission

039191-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.607) question?

Stock #

R1118 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43973130-44042160 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 44031556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140313 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087933] [ENSMUST00000188302] [ENSMUST00000188313] [ENSMUST00000189388] [ENSMUST00000190207]

AlphaFold

Q64514

Predicted Effect

probably null
Transcript: ENSMUST00000087933

SMART Domains

Protein: ENSMUSP00000085244
Gene: ENSMUSG00000041763

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 null
Transcript: ENSMUST00000188313

SMART Domains

Protein: ENSMUSP00000139918
Gene: ENSMUSG00000041763

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 null
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

0.9591

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 94.3%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	A	G	18: 63,085,095 (GRCm39)	T431A	probably benign	Het
Bcan	T	A	3: 87,896,534 (GRCm39)	I721F	probably damaging	Het
Card10	T	C	15: 78,686,643 (GRCm39)	D58G	possibly damaging	Het
Cd200r2	A	G	16: 44,729,969 (GRCm39)	N171S	probably damaging	Het
Celsr1	T	C	15: 85,916,248 (GRCm39)	D575G	probably damaging	Het
Ces1f	A	G	8: 93,993,870 (GRCm39)		probably benign	Het
Cped1	A	T	6: 22,237,698 (GRCm39)	H938L	probably benign	Het
Creld1	A	G	6: 113,468,656 (GRCm39)	D259G	probably benign	Het
Cubn	T	C	2: 13,341,053 (GRCm39)	I2223V	possibly damaging	Het
Dop1a	A	G	9: 86,397,459 (GRCm39)	D921G	probably damaging	Het
Dusp7	T	C	9: 106,250,849 (GRCm39)	S325P	possibly damaging	Het
Fat4	A	T	3: 39,037,091 (GRCm39)	D3581V	possibly damaging	Het
Fhl3	T	C	4: 124,599,584 (GRCm39)		probably null	Het
Gap43	T	C	16: 42,112,167 (GRCm39)	E198G	probably benign	Het
Garin4	G	A	1: 190,896,682 (GRCm39)		probably benign	Het
Grina	T	C	15: 76,132,779 (GRCm39)	F182S	probably damaging	Het
Gsk3b	T	C	16: 38,028,346 (GRCm39)		probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Haus6	A	G	4: 86,503,563 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,494,679 (GRCm39)	A4137T	possibly damaging	Het
Itih4	C	A	14: 30,618,124 (GRCm39)		probably benign	Het
Itprid1	T	C	6: 55,866,155 (GRCm39)	F183L	probably damaging	Het
Kif22	A	G	7: 126,631,916 (GRCm39)	S384P	probably benign	Het
Lbr	A	C	1: 181,648,233 (GRCm39)		probably benign	Het
Mei1	G	A	15: 82,000,068 (GRCm39)		probably benign	Het
Misp	T	C	10: 79,662,969 (GRCm39)	V462A	probably benign	Het
Mrgpra3	A	C	7: 47,239,039 (GRCm39)	L296V	possibly damaging	Het
Ndufa9	A	T	6: 126,799,031 (GRCm39)	L362Q	probably damaging	Het
Nlrp9c	A	T	7: 26,083,862 (GRCm39)	D572E	probably benign	Het
Or4f14	T	A	2: 111,743,222 (GRCm39)	T18S	probably benign	Het
Otud4	C	T	8: 80,379,980 (GRCm39)		probably benign	Het
P4ha3	T	C	7: 99,962,535 (GRCm39)	I431T	probably damaging	Het
Pcdhb15	T	A	18: 37,606,815 (GRCm39)	F16I	probably benign	Het
Pcnp	A	G	16: 55,844,754 (GRCm39)	S49P	probably damaging	Het
Pdxdc1	T	A	16: 13,697,278 (GRCm39)		probably benign	Het
Pgc	T	A	17: 48,039,828 (GRCm39)		probably null	Het
Phf11a	T	C	14: 59,521,778 (GRCm39)	D131G	probably benign	Het
Prdm2	G	A	4: 142,858,953 (GRCm39)	H1446Y	possibly damaging	Het
Rad54b	T	C	4: 11,563,352 (GRCm39)	S4P	probably damaging	Het
Slc52a2	T	C	15: 76,423,808 (GRCm39)		probably benign	Het
Slc9a4	G	A	1: 40,623,490 (GRCm39)		probably benign	Het
Smad4	T	C	18: 73,773,333 (GRCm39)	D551G	probably benign	Het
Smg7	A	T	1: 152,742,326 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sspo	A	G	6: 48,436,352 (GRCm39)	Y1234C	probably damaging	Het
Stab2	A	T	10: 86,721,582 (GRCm39)		probably null	Het
Stk36	A	G	1: 74,671,925 (GRCm39)	E875G	probably benign	Het
Stmn4	T	G	14: 66,591,844 (GRCm39)		probably benign	Het
Tagln3	C	A	16: 45,544,635 (GRCm39)	R12L	probably damaging	Het
Tex14	A	T	11: 87,413,343 (GRCm39)	R1031S	probably benign	Het
Tia1	G	A	6: 86,396,091 (GRCm39)	V96I	probably benign	Het
Ticrr	C	T	7: 79,343,701 (GRCm39)	P1189S	probably benign	Het
Tnxb	G	A	17: 34,904,017 (GRCm39)	V1053M	probably damaging	Het
Trpm7	A	G	2: 126,664,406 (GRCm39)	M991T	possibly damaging	Het
Ttc3	T	A	16: 94,217,127 (GRCm39)		probably benign	Het
Vcan	G	A	13: 89,853,782 (GRCm39)	P393S	probably damaging	Het
Vmn2r107	G	A	17: 20,576,860 (GRCm39)	R286Q	probably benign	Het
Wdr87-ps	G	A	7: 29,233,669 (GRCm39)		noncoding transcript	Het
Wrap73	A	T	4: 154,236,884 (GRCm39)		probably null	Het
Zfp958	A	T	8: 4,676,169 (GRCm39)	N46Y	possibly 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
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

Posted On

2014-01-05