Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03102:Tpp2'

418798

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03102

Quality Score

Status

Chromosome

Chromosomal Location

43973130-44042160 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43995649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 268 (V268E)

Ref Sequence

ENSEMBL: ENSMUSP00000140562 (fasta)

Gene Model

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

AlphaFold

Q64514

Predicted Effect

probably damaging
Transcript: ENSMUST00000087933
AA Change: V268E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085244
Gene: ENSMUSG00000041763
AA Change: V268E

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: ENSMUST00000186028

Predicted Effect

probably damaging
Transcript: ENSMUST00000188302
AA Change: V268E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140474
Gene: ENSMUSG00000041763
AA Change: V268E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000188313
AA Change: V268E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139918
Gene: ENSMUSG00000041763
AA Change: V268E

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 damaging
Transcript: ENSMUST00000189388
AA Change: V268E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140562
Gene: ENSMUSG00000041763
AA Change: V268E

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

noncoding transcript
Transcript: ENSMUST00000190401

Coding Region Coverage

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	T	C	7: 80,744,804 (GRCm39)		probably null	Het
Alyref	G	A	11: 120,488,591 (GRCm39)	P79L	possibly damaging	Het
Arhgap28	T	C	17: 68,203,231 (GRCm39)	D74G	probably damaging	Het
Atp1a4	T	A	1: 172,058,718 (GRCm39)	D909V	probably damaging	Het
Cdc5l	A	T	17: 45,718,857 (GRCm39)	D586E	probably damaging	Het
Chd3	G	T	11: 69,252,022 (GRCm39)	Y79*	probably null	Het
Cnot3	C	A	7: 3,659,155 (GRCm39)	S467*	probably null	Het
Col18a1	A	T	10: 76,903,457 (GRCm39)		probably benign	Het
Col19a1	C	A	1: 24,367,134 (GRCm39)	G483C	probably damaging	Het
Col5a3	A	C	9: 20,715,931 (GRCm39)		probably null	Het
Dctn5	A	T	7: 121,732,382 (GRCm39)	N9I	probably benign	Het
Emc10	T	A	7: 44,141,413 (GRCm39)	N225I	probably damaging	Het
Fam219b	A	G	9: 57,447,981 (GRCm39)	Y158C	probably damaging	Het
Fras1	T	C	5: 96,874,394 (GRCm39)	V2273A	probably benign	Het
Frem3	T	A	8: 81,339,661 (GRCm39)	H651Q	possibly damaging	Het
Gm4076	T	A	13: 85,275,438 (GRCm39)		noncoding transcript	Het
Gpr35	A	T	1: 92,910,299 (GRCm39)	T4S	probably benign	Het
Ifnab	T	G	4: 88,609,062 (GRCm39)	T135P	possibly damaging	Het
Jag1	T	C	2: 136,926,608 (GRCm39)	I979V	probably benign	Het
Kank1	G	T	19: 25,403,282 (GRCm39)	M1097I	probably damaging	Het
Kcnq3	A	G	15: 65,900,637 (GRCm39)	V206A	probably damaging	Het
Kel	T	C	6: 41,679,917 (GRCm39)	K91R	probably benign	Het
Kirrel1	G	T	3: 86,990,807 (GRCm39)	R672S	probably damaging	Het
Kmt2d	A	G	15: 98,753,424 (GRCm39)	M143T	probably benign	Het
Kpna1	A	G	16: 35,833,289 (GRCm39)	I122V	probably damaging	Het
Lrpap1	A	G	5: 35,250,694 (GRCm39)	S353P	probably damaging	Het
Mtfr1l	T	A	4: 134,259,543 (GRCm39)	Q11L	probably damaging	Het
Muc5b	G	A	7: 141,416,806 (GRCm39)	V3251M	probably benign	Het
Mup8	C	T	4: 60,219,746 (GRCm39)	D174N	probably benign	Het
Nup155	A	T	15: 8,176,768 (GRCm39)	E1015D	probably benign	Het
Or10ak14	C	A	4: 118,611,131 (GRCm39)	L201F	probably benign	Het
Or9i14	T	C	19: 13,792,735 (GRCm39)	Y73C	probably damaging	Het
P2rx7	T	C	5: 122,801,668 (GRCm39)	F188L	possibly damaging	Het
Pacrg	A	G	17: 11,058,719 (GRCm39)	F13L	probably benign	Het
Palb2	A	T	7: 121,723,722 (GRCm39)	S676T	possibly damaging	Het
Pdia6	T	A	12: 17,331,040 (GRCm39)		probably null	Het
Pfkm	A	T	15: 98,024,266 (GRCm39)	I425F	possibly damaging	Het
Pikfyve	C	T	1: 65,291,626 (GRCm39)	R1282*	probably null	Het
Pole	C	T	5: 110,444,939 (GRCm39)	L432F	probably damaging	Het
Pramel25	T	C	4: 143,520,116 (GRCm39)	V120A	possibly damaging	Het
Prr5	G	T	15: 84,650,508 (GRCm39)		probably benign	Het
Prxl2b	T	C	4: 154,981,058 (GRCm39)		probably benign	Het
Psat1	A	G	19: 15,883,487 (GRCm39)	Y343H	probably damaging	Het
Ptprj	C	T	2: 90,309,312 (GRCm39)	R51K	probably benign	Het
Qars1	A	G	9: 108,386,118 (GRCm39)	D103G	probably benign	Het
Rims2	A	T	15: 39,322,989 (GRCm39)	I768F	possibly damaging	Het
Robo4	T	A	9: 37,315,481 (GRCm39)	V275E	probably damaging	Het
Ryr2	A	G	13: 11,650,468 (GRCm39)		probably benign	Het
Sez6l	T	C	5: 112,623,269 (GRCm39)	H94R	probably benign	Het
Slco1c1	T	A	6: 141,490,553 (GRCm39)	N211K	possibly damaging	Het
Strbp	T	C	2: 37,476,515 (GRCm39)		probably benign	Het
Tceanc2	T	A	4: 107,004,878 (GRCm39)	H90L	probably damaging	Het
Tdrkh	A	T	3: 94,331,844 (GRCm39)	T90S	possibly damaging	Het
Tiam2	A	G	17: 3,559,823 (GRCm39)	D1288G	probably damaging	Het
Tln1	T	C	4: 43,532,861 (GRCm39)	D2447G	possibly damaging	Het
Tmem63c	G	A	12: 87,112,323 (GRCm39)	V141M	probably benign	Het
Tprkb	T	A	6: 85,901,400 (GRCm39)	C13S	probably benign	Het
Traf3ip3	T	C	1: 192,877,385 (GRCm39)	T184A	probably damaging	Het
Trpc6	T	A	9: 8,649,302 (GRCm39)	M504K	probably benign	Het
Ttn	G	T	2: 76,597,567 (GRCm39)	S18036*	probably null	Het
Wdfy4	A	T	14: 32,688,392 (GRCm39)	C2914S	probably damaging	Het
Ylpm1	T	A	12: 85,096,032 (GRCm39)		probably benign	Het
Zfp644	T	C	5: 106,785,134 (GRCm39)	H471R	probably damaging	Het
Zfp747l1	T	C	7: 126,983,951 (GRCm39)	T384A	probably benign	Het
Zfyve16	C	T	13: 92,648,325 (GRCm39)	E910K	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
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
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

Posted On

2016-08-02