Mutagenetix > Incidental Mutation

Incidental Mutation 'R9049:Tpp2'

688214

Institutional Source

Beutler Lab

Gene Symbol

Tpp2

Ensembl Gene

ENSMUSG00000041763

Gene Name

tripeptidyl peptidase II

Synonyms

TppII

MMRRC Submission

068875-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.589) question?

Stock #

R9049 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43973130-44042160 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43992502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 194 (V194A)

Ref Sequence

ENSEMBL: ENSMUSP00000085244 (fasta)

Gene Model

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

AlphaFold

Q64514

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087933
AA Change: V194A

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000085244
Gene: ENSMUSG00000041763
AA Change: V194A

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
AA Change: V194A

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140474
Gene: ENSMUSG00000041763
AA Change: V194A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188313
AA Change: V194A

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139918
Gene: ENSMUSG00000041763
AA Change: V194A

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
AA Change: V194A

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140562
Gene: ENSMUSG00000041763
AA Change: V194A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (64/64)

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
3110009E18Rik	A	G	1: 120,115,900 (GRCm39)	I118V	probably null	Het
Abcc9	A	G	6: 142,628,658 (GRCm39)	L362P	probably damaging	Het
Adam7	C	A	14: 68,762,674 (GRCm39)	V184F	probably benign	Het
Adgre4	T	C	17: 56,092,094 (GRCm39)	I118T	probably benign	Het
Akap9	T	C	5: 4,114,597 (GRCm39)	L3292P		Het
Akr1b10	A	G	6: 34,373,561 (GRCm39)	E308G	possibly damaging	Het
Aopep	A	G	13: 63,208,852 (GRCm39)	Y323C	probably benign	Het
Ash1l	T	C	3: 88,914,671 (GRCm39)	V1767A	probably benign	Het
Bpifb3	C	A	2: 153,767,810 (GRCm39)	N294K	probably benign	Het
Bpifb5	A	G	2: 154,070,096 (GRCm39)	N182S	probably benign	Het
C9orf72	A	G	4: 35,192,964 (GRCm39)	I455T	unknown	Het
Camkmt	A	G	17: 85,709,912 (GRCm39)	I205M	possibly damaging	Het
Ccdc88b	C	T	19: 6,826,442 (GRCm39)	R1091Q	probably benign	Het
Cfap58	A	T	19: 48,015,157 (GRCm39)		probably null	Het
Clca3a1	T	A	3: 144,733,143 (GRCm39)	I122L	probably benign	Het
Col6a3	T	A	1: 90,707,066 (GRCm39)	S2623C	unknown	Het
Cpne5	A	G	17: 29,379,332 (GRCm39)	S484P	probably damaging	Het
Cyp4f39	T	A	17: 32,705,965 (GRCm39)	L352Q	probably damaging	Het
Dcun1d1	T	C	3: 35,951,998 (GRCm39)	N183D	probably benign	Het
Dgkg	A	G	16: 22,419,338 (GRCm39)	V54A	probably benign	Het
Dnah12	T	A	14: 26,443,275 (GRCm39)	D561E	probably benign	Het
Dnah6	A	C	6: 73,119,275 (GRCm39)	L1536R	probably damaging	Het
Gm21834	G	A	17: 58,048,826 (GRCm39)	T130I	possibly damaging	Het
Hectd4	T	A	5: 121,451,955 (GRCm39)	V434E	possibly damaging	Het
Htr3a	C	A	9: 48,811,087 (GRCm39)	V459L	probably damaging	Het
Lonp2	T	C	8: 87,435,735 (GRCm39)	V657A	probably benign	Het
Mdfi	C	A	17: 48,135,479 (GRCm39)	V84L	probably damaging	Het
Mdm1	C	T	10: 117,982,605 (GRCm39)	T80M	probably benign	Het
Muc5ac	A	C	7: 141,362,712 (GRCm39)	I2008L	unknown	Het
Nomo1	A	G	7: 45,715,597 (GRCm39)	D681G	probably benign	Het
Or10g9	G	T	9: 39,911,919 (GRCm39)	N201K	possibly damaging	Het
Or14j6	G	A	17: 38,214,764 (GRCm39)	W109*	probably null	Het
Or1af1	C	G	2: 37,109,959 (GRCm39)	H153D	probably damaging	Het
Or1p1c	A	G	11: 74,161,115 (GRCm39)	K300R	possibly damaging	Het
Or5h25	T	G	16: 58,930,763 (GRCm39)	D70A	probably damaging	Het
Or5m5	A	G	2: 85,814,235 (GRCm39)	E17G	possibly damaging	Het
Or7e169	T	C	9: 19,757,045 (GRCm39)	Y290C	probably damaging	Het
Pip5k1c	C	A	10: 81,152,710 (GRCm39)		probably benign	Het
Pipox	A	G	11: 77,772,380 (GRCm39)	I330T	probably damaging	Het
Pira13	T	A	7: 3,819,890 (GRCm39)	T676S	unknown	Het
Pld3	C	T	7: 27,235,293 (GRCm39)	V312M	possibly damaging	Het
Pnisr	T	A	4: 21,854,391 (GRCm39)	W12R	unknown	Het
Polr3e	A	G	7: 120,538,462 (GRCm39)	K410R	probably benign	Het
Ppif	G	T	14: 25,694,836 (GRCm39)	V61L	possibly damaging	Het
Pramel5	T	C	4: 144,000,486 (GRCm39)	N30S	probably benign	Het
Prex2	T	G	1: 11,256,130 (GRCm39)	L1167R	probably damaging	Het
Prkacb	A	T	3: 146,461,518 (GRCm39)		probably benign	Het
Prl3a1	T	A	13: 27,460,167 (GRCm39)	L217H	probably damaging	Het
Prop1	G	C	11: 50,842,948 (GRCm39)	Q80E	probably damaging	Het
Psma1	T	C	7: 113,865,764 (GRCm39)	I214V	probably benign	Het
Ptgfr	T	A	3: 151,541,404 (GRCm39)	I35F	probably benign	Het
Rcvrn	A	T	11: 67,586,568 (GRCm39)	Y109F	probably benign	Het
Repin1	A	G	6: 48,574,646 (GRCm39)	D525G	possibly damaging	Het
Slc12a2	A	T	18: 58,054,863 (GRCm39)	R835*	probably null	Het
Sqle	T	C	15: 59,189,711 (GRCm39)	F118L	probably benign	Het
Stard9	A	T	2: 120,510,418 (GRCm39)	Y333F	probably benign	Het
Tbc1d16	G	A	11: 119,100,090 (GRCm39)	R95C	probably damaging	Het
Tln1	C	A	4: 43,549,786 (GRCm39)	E542*	probably null	Het
Tmem161b	G	T	13: 84,442,754 (GRCm39)	A407S	probably benign	Het
Tnc	G	T	4: 63,918,247 (GRCm39)	D1221E	possibly damaging	Het
Tnks	T	C	8: 35,308,932 (GRCm39)	K1109R	probably damaging	Het
Ust	G	A	10: 8,183,218 (GRCm39)	Q162*	probably null	Het
Utp15	T	C	13: 98,395,778 (GRCm39)	Y68C	probably damaging	Het
Vcan	A	T	13: 89,826,224 (GRCm39)	H3193Q	probably damaging	Het
Vmn2r55	T	C	7: 12,418,908 (GRCm39)	Y4C	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
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
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'- GTTCAACACTGTCTTTTGTCATATG -3'
(R):5'- ATCAGTGATCAATCTGCCAAAATGTG -3'

Sequencing Primer
(F):5'- CTGTTTTCTGACTAATAGGCC -3'
(R):5'- CAAAAGCTGGTATGTCCTTCAC -3'

Posted On

2021-11-19