Mutagenetix > Incidental Mutations

Incidental Mutation 'R7316:Tpp2'

567929

Institutional Source

Beutler Lab

Gene Symbol

Tpp2

Ensembl Gene

ENSMUSG00000041763

Gene Name

tripeptidyl peptidase II

Synonyms

TppII

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.685) question?

Stock #

R7316 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43933647-44003000 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43970431 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 475 (V475A)

Ref Sequence

ENSEMBL: ENSMUSP00000085244 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000087933
AA Change: V475A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000085244
Gene: ENSMUSG00000041763
AA Change: V475A

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: ENSMUST00000186441

Predicted Effect

probably benign
Transcript: ENSMUST00000188302
AA Change: V475A

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

SMART Domains

Protein: ENSMUSP00000140474
Gene: ENSMUSG00000041763
AA Change: V475A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000188313
AA Change: V475A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000139918
Gene: ENSMUSG00000041763
AA Change: V475A

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: V475A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140562
Gene: ENSMUSG00000041763
AA Change: V475A

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: 99.6%
20x: 98.9%

Validation Efficiency

99% (93/94)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,304,644	D246G	probably damaging	Het
2810474O19Rik	T	C	6: 149,326,638	L394P	probably damaging	Het
4933434E20Rik	G	A	3: 90,061,713	M214I	probably benign	Het
Aadat	G	T	8: 60,526,634	G177C	probably damaging	Het
Adam4	T	C	12: 81,419,724	I708V	probably benign	Het
Aip	T	C	19: 4,114,793	N264S	probably benign	Het
Alox8	A	T	11: 69,186,238	D505E	probably benign	Het
Ap3d1	A	T	10: 80,717,859	I518N	probably damaging	Het
Arf3	G	A	15: 98,740,993	Q128*	probably null	Het
Asph	A	G	4: 9,537,746	V344A	probably benign	Het
Birc6	A	T	17: 74,604,494	R1500S	probably damaging	Het
Bptf	G	A	11: 107,073,109	T1753I	probably damaging	Het
Bptf	A	T	11: 107,110,914	C457*	probably null	Het
Brpf3	T	A	17: 28,814,686	I568N	probably damaging	Het
Btnl4	G	C	17: 34,469,057	N582K	probably benign	Het
Camsap3	C	A	8: 3,604,648	P773T	possibly damaging	Het
Capsl	A	T	15: 9,461,802	I95L	probably benign	Het
Cd96	T	A	16: 46,069,653	M336L	probably benign	Het
Cdan1	A	T	2: 120,728,332		probably null	Het
Chd3	A	T	11: 69,345,568	L1939Q	probably damaging	Het
Cngb3	A	T	4: 19,425,599	Y469F	probably benign	Het
Cp	T	C	3: 19,972,752	L448P	probably damaging	Het
Csnk1g2	T	C	10: 80,639,853	V418A	possibly damaging	Het
Dag1	A	T	9: 108,209,502	S147T	probably benign	Het
Dnajc25	T	A	4: 59,017,693	Y117*	probably null	Het
Dpysl2	A	T	14: 66,862,595	M64K	possibly damaging	Het
Dus3l	A	G	17: 56,765,551	H38R	possibly damaging	Het
E330021D16Rik	T	C	6: 136,401,278	K185E	possibly damaging	Het
Eme2	G	A	17: 24,894,866	R62W	probably damaging	Het
Enox1	A	T	14: 77,720,858	M616L	probably benign	Het
Epb41l4b	T	A	4: 57,019,867	T708S	probably benign	Het
Fam71f2	A	G	6: 29,286,102	M187V	probably benign	Het
Fat2	A	T	11: 55,286,067	I1534N	probably damaging	Het
Fer1l5	A	G	1: 36,418,116	T1649A	probably benign	Het
Fmo9	A	G	1: 166,663,646	V421A	probably benign	Het
Fsip2	A	C	2: 82,989,691	Y5256S	possibly damaging	Het
Gapvd1	G	A	2: 34,704,669	L804F	probably damaging	Het
Gen1	A	G	12: 11,241,469	V838A	probably benign	Het
Gnptab	A	T	10: 88,400,710	N59I	probably damaging	Het
Grm5	A	G	7: 87,975,265	T347A	probably benign	Het
Gsdmc3	T	C	15: 63,858,402	N438D	possibly damaging	Het
Hmcn1	A	G	1: 150,732,946	L1495S	probably damaging	Het
Islr2	T	C	9: 58,197,967	E714G	probably damaging	Het
Larp4	A	T	15: 100,001,017	M430L	probably benign	Het
Lpcat2b	A	G	5: 107,433,113	I103V	not run	Het
Lrguk	C	T	6: 34,103,256	S1142F	unknown	Het
Lrit2	G	T	14: 37,068,858	V165F	probably damaging	Het
Mast3	T	A	8: 70,779,788	I1182F	probably damaging	Het
Mcm6	C	T	1: 128,359,508	D20N	probably damaging	Het
Mief1	A	G	15: 80,249,397	I218M	probably damaging	Het
Mmp2	A	G	8: 92,840,410	T453A	probably benign	Het
Ms4a18	T	A	19: 11,001,996	S219C	probably damaging	Het
Myo5c	A	T	9: 75,269,638	T622S	probably benign	Het
Neb	A	T	2: 52,271,438	M2114K	possibly damaging	Het
Nemp1	T	A	10: 127,689,343	L122*	probably null	Het
Nkx2-1	T	C	12: 56,534,798	N88S	probably benign	Het
Nr2c2	T	A	6: 92,154,463	C202S	probably damaging	Het
Ntsr1	A	C	2: 180,500,752	D112A	probably damaging	Het
Olfr114	A	G	17: 37,590,135	S73P	probably damaging	Het
Olfr430	A	T	1: 174,070,161	I288F	probably benign	Het
Olfr680-ps1	A	T	7: 105,090,900	H246Q	probably damaging	Het
Osbp2	C	A	11: 3,726,431	R73L	probably damaging	Het
Pbp2	T	A	6: 135,309,832	E172D	probably damaging	Het
Pcdhgc3	T	C	18: 37,808,448	I634T	probably benign	Het
Pcnx	T	C	12: 81,995,549	S38P	probably benign	Het
Phyh	A	T	2: 4,936,044	K252*	probably null	Het
Plcb3	C	T	19: 6,966,385		probably null	Het
Ppargc1b	T	C	18: 61,307,838	S670G	probably damaging	Het
Ptprc	T	C	1: 138,064,771	Y1067C	probably damaging	Het
Pwwp2b	A	C	7: 139,256,224	E527A	probably benign	Het
Pzp	T	C	6: 128,513,773	D409G	probably damaging	Het
Rbfox2	A	T	15: 77,132,729	N148K	possibly damaging	Het
Rps24	T	C	14: 24,490,689		probably benign	Het
Slc35e4	T	C	11: 3,912,584	K202E	probably damaging	Het
Spata7	C	T	12: 98,658,612	R258W	probably damaging	Het
Spen	A	T	4: 141,477,054	S1421T	unknown	Het
Svep1	T	A	4: 58,068,763	I3008F	possibly damaging	Het
Tbc1d1	G	T	5: 64,335,277		probably null	Het
Thsd4	T	A	9: 59,987,359	H772L	probably benign	Het
Tle1	T	C	4: 72,118,292	I769V	probably benign	Het
Tm4sf19	T	A	16: 32,407,648	S127T	possibly damaging	Het
Tmprss9	C	A	10: 80,894,979	R780S	probably benign	Het
Ttc30a1	A	T	2: 75,980,857	L294Q	probably damaging	Het
Ttn	A	T	2: 76,766,913	N19885K	probably damaging	Het
Ttn	A	G	2: 76,862,165	V471A		Het
Tub	A	T	7: 109,030,171	T478S	possibly damaging	Het
Vmn2r88	A	T	14: 51,414,255	Y342F		Het
Wdr18	C	A	10: 79,965,225	D157E	probably benign	Het
Xrra1	A	T	7: 99,876,216		probably null	Het
Zc3h4	G	C	7: 16,435,335	G1198A	unknown	Het
Zfp568	A	T	7: 30,022,256	I209F	possibly damaging	Het
Zfp787	C	A	7: 6,155,524		probably benign	Het
Zfp974	A	T	7: 27,910,438	Y621N	possibly damaging	Het
Zyg11b	A	G	4: 108,250,502	I493T	possibly damaging	Het

Other mutations in Tpp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00977:Tpp2	APN	1	43983291	missense	possibly damaging	0.90
IGL01021:Tpp2	APN	1	43934187	nonsense	probably null
IGL01096:Tpp2	APN	1	43960888	missense	probably damaging	1.00
IGL01344:Tpp2	APN	1	43983262	missense	probably benign	0.04
IGL01642:Tpp2	APN	1	43954653	missense	probably damaging	1.00
IGL02719:Tpp2	APN	1	43940231	missense	probably benign	0.09
IGL02890:Tpp2	APN	1	43999690	missense	probably damaging	1.00
IGL03102:Tpp2	APN	1	43956489	missense	probably damaging	1.00
IGL03175:Tpp2	APN	1	43973511	missense	probably benign	0.35
beaver	UTSW	1	43971715	missense	probably benign	0.08
cleaver	UTSW	1	43978508	nonsense	probably null
eddie	UTSW	1	43968988	missense	probably damaging	1.00
June	UTSW	1	43954710	missense	probably damaging	1.00
state	UTSW	1	43978438	missense	possibly damaging	0.48
wally	UTSW	1	43992396	critical splice donor site	probably null
Ward	UTSW	1	43954736	missense	possibly damaging	0.82
R0001:Tpp2	UTSW	1	43971726	missense	probably benign	0.00
R0003:Tpp2	UTSW	1	43960139	missense	possibly damaging	0.94
R0066:Tpp2	UTSW	1	43981748	missense	possibly damaging	0.56
R0110:Tpp2	UTSW	1	43999693	missense	probably damaging	1.00
R0110:Tpp2	UTSW	1	43978504	missense	probably benign	0.00
R0167:Tpp2	UTSW	1	43970488	missense	probably benign	0.01
R0441:Tpp2	UTSW	1	43990562	missense	possibly damaging	0.85
R0520:Tpp2	UTSW	1	43990530	missense	probably damaging	1.00
R0639:Tpp2	UTSW	1	43975447	missense	probably benign	0.00
R1118:Tpp2	UTSW	1	43992396	critical splice donor site	probably null
R1119:Tpp2	UTSW	1	43992396	critical splice donor site	probably null
R1593:Tpp2	UTSW	1	43975433	missense	probably benign	0.01
R1702:Tpp2	UTSW	1	43990548	missense	probably damaging	0.99
R1756:Tpp2	UTSW	1	43978725	splice site	probably null
R2066:Tpp2	UTSW	1	43978438	missense	possibly damaging	0.48
R2171:Tpp2	UTSW	1	43957446	missense	probably benign	0.00
R2378:Tpp2	UTSW	1	43999765	missense	probably damaging	0.99
R2394:Tpp2	UTSW	1	43983186	missense	possibly damaging	0.83
R2507:Tpp2	UTSW	1	44001449	missense	probably benign	0.31
R2879:Tpp2	UTSW	1	43971623	missense	probably damaging	1.00
R3436:Tpp2	UTSW	1	43940144	missense	probably damaging	0.99
R4106:Tpp2	UTSW	1	44001457	missense	possibly damaging	0.71
R4658:Tpp2	UTSW	1	43954710	missense	probably damaging	1.00
R4760:Tpp2	UTSW	1	43971715	missense	probably benign	0.08
R4963:Tpp2	UTSW	1	43992268	missense	probably damaging	1.00
R5049:Tpp2	UTSW	1	44001473	missense	possibly damaging	0.46
R5073:Tpp2	UTSW	1	43954736	missense	possibly damaging	0.82
R6010:Tpp2	UTSW	1	43951213	critical splice donor site	probably null
R6118:Tpp2	UTSW	1	43940146	missense	probably damaging	1.00
R6155:Tpp2	UTSW	1	43956489	missense	probably damaging	1.00
R6169:Tpp2	UTSW	1	43983579	missense	probably damaging	0.99
R6236:Tpp2	UTSW	1	43977317	missense	probably benign	0.01
R6695:Tpp2	UTSW	1	43983276	missense	probably benign
R6845:Tpp2	UTSW	1	43978508	nonsense	probably null
R7054:Tpp2	UTSW	1	43983158	missense	probably damaging	1.00
R7094:Tpp2	UTSW	1	43968988	missense	probably damaging	1.00
R7223:Tpp2	UTSW	1	43968888	missense	probably damaging	1.00
R7324:Tpp2	UTSW	1	43978778	missense	probably damaging	1.00
R7363:Tpp2	UTSW	1	43985422	missense	probably benign	0.00
R7454:Tpp2	UTSW	1	43954659	missense	probably benign	0.01
R7496:Tpp2	UTSW	1	43983517	missense	probably benign	0.09
R7699:Tpp2	UTSW	1	43970466	missense	probably benign
R7700:Tpp2	UTSW	1	43970466	missense	probably benign
R7804:Tpp2	UTSW	1	43983281	missense	probably benign	0.00
R8032:Tpp2	UTSW	1	43975468	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- AAGTACTTGTGTGATGCAAGC -3'
(R):5'- CCACATCTAAAGTTTAGACATGCTG -3'

Sequencing Primer
(F):5'- GTGTGATGCAAGCAGTTTAAATC -3'
(R):5'- GACATGCTGAATCACTATTACAGAGC -3'

Posted On

2019-06-26