Mutagenetix > Incidental Mutation

Incidental Mutation 'R4106:Tpp2'

321372

Institutional Source

Beutler Lab

Gene Symbol

Tpp2

Ensembl Gene

ENSMUSG00000041763

Gene Name

tripeptidyl peptidase II

Synonyms

TppII

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.589) question?

Stock #

R4106 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

43973130-44042160 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44040617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 293 (Y293H)

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

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

noncoding transcript
Transcript: ENSMUST00000187115

Predicted Effect

probably benign
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

possibly damaging
Transcript: ENSMUST00000190207
AA Change: Y293H

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140313
Gene: ENSMUSG00000041763
AA Change: Y293H

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	G	T	5: 121,769,527 (GRCm39)	S643Y	probably damaging	Het
Acox3	T	C	5: 35,758,896 (GRCm39)	F369S	probably damaging	Het
Cacna1a	A	G	8: 85,310,324 (GRCm39)	I1461V	possibly damaging	Het
Cdc42bpb	A	C	12: 111,261,579 (GRCm39)	V107G	probably benign	Het
Cdhr4	A	G	9: 107,873,459 (GRCm39)	D397G	probably damaging	Het
Chd1l	T	C	3: 97,505,019 (GRCm39)	T183A	probably benign	Het
Cnbd2	T	C	2: 156,177,318 (GRCm39)	V92A	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyp2j7	T	C	4: 96,087,687 (GRCm39)	T408A	possibly damaging	Het
H2-T24	A	G	17: 36,328,370 (GRCm39)	S38P	possibly damaging	Het
Mapkapk3	A	G	9: 107,134,265 (GRCm39)	V333A	probably damaging	Het
Muc5ac	T	G	7: 141,356,572 (GRCm39)	V1053G	possibly damaging	Het
Myh1	T	C	11: 67,102,403 (GRCm39)	V898A	probably benign	Het
Nnt	T	C	13: 119,533,327 (GRCm39)	I113V	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or5d38	A	T	2: 87,954,817 (GRCm39)	C171S	possibly damaging	Het
Rpl10a	T	A	17: 28,549,933 (GRCm39)	Y205N	probably benign	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Scn3a	A	G	2: 65,325,379 (GRCm39)	I1046T	probably benign	Het
Sertad4	AGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGA	1: 192,529,050 (GRCm39)		probably benign	Het
Sipa1l2	T	C	8: 126,219,047 (GRCm39)	K97E	probably damaging	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Slc22a6	A	G	19: 8,595,874 (GRCm39)	Q72R	probably benign	Het
St8sia2	A	C	7: 73,610,509 (GRCm39)	L258R	probably damaging	Het
Tas1r2	G	A	4: 139,387,363 (GRCm39)	R245H	probably benign	Het
Tcerg1l	A	G	7: 137,861,673 (GRCm39)	V352A	probably damaging	Het
Tpo	G	A	12: 30,142,585 (GRCm39)	P713L	probably damaging	Het
Ttn	G	C	2: 76,581,215 (GRCm39)	A23226G	probably damaging	Het
Ttn	C	T	2: 76,608,809 (GRCm39)	V15990I	probably benign	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
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

PCR Primer
(F):5'- CTTCTGTGAAAGCCTCATTTCATTG -3'
(R):5'- AGGAATGCTTCTTCCTTCAAAAGAG -3'

Sequencing Primer
(F):5'- AGCCTCATTTCATTGTTAAAGCC -3'
(R):5'- TGCTTCTTCCTTCAAAAGAGAAAAC -3'

Posted On

2015-06-12