Mutagenetix > Incidental Mutation

Incidental Mutation 'R2059:Ppt2'

228521

Institutional Source

Beutler Lab

Gene Symbol

Ppt2

Ensembl Gene

ENSMUSG00000015474

Gene Name

palmitoyl-protein thioesterase 2

Synonyms

0610007M19Rik

MMRRC Submission

040064-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2059 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34835636-34847484 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 34841818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064953] [ENSMUST00000166040] [ENSMUST00000167097] [ENSMUST00000168391] [ENSMUST00000169067] [ENSMUST00000169287] [ENSMUST00000171376] [ENSMUST00000171121] [ENSMUST00000170345]

AlphaFold

O35448

Predicted Effect

probably benign
Transcript: ENSMUST00000064953

SMART Domains

Protein: ENSMUSP00000068071
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	297	2.2e-19	PFAM
Pfam:Abhydrolase_6	39	273	2.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166040

SMART Domains

Protein: ENSMUSP00000132006
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	289	9e-19	PFAM
Pfam:Abhydrolase_1	37	173	9e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167097

SMART Domains

Protein: ENSMUSP00000125937
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	236	7.7e-12	PFAM
Pfam:Abhydrolase_6	39	236	2.1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168391

SMART Domains

Protein: ENSMUSP00000132339
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	297	2.2e-19	PFAM
Pfam:Abhydrolase_6	39	273	2.5e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168709

Predicted Effect

probably benign
Transcript: ENSMUST00000169067

SMART Domains

Protein: ENSMUSP00000127372
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	297	2.2e-19	PFAM
Pfam:Abhydrolase_6	39	273	2.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169287

SMART Domains

Protein: ENSMUSP00000129421
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
PDB:1PJA\|A	1	102	2e-42	PDB
SCOP:d1fj2a_	29	91	7e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171376

SMART Domains

Protein: ENSMUSP00000131243
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	297	2.2e-19	PFAM
Pfam:Abhydrolase_6	39	273	2.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169969

SMART Domains

Protein: ENSMUSP00000127726
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
Pfam:Abhydrolase_1	18	139	9e-8	PFAM
Pfam:Palm_thioest	116	234	1.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171121

SMART Domains

Protein: ENSMUSP00000127745
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	297	2.2e-19	PFAM
Pfam:Abhydrolase_6	39	273	2.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170345

SMART Domains

Protein: ENSMUSP00000127707
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	33	203	1.6e-9	PFAM
Pfam:Abhydrolase_6	39	201	2.2e-9	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

99% (99/100)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream EGFL8 (EGF-like-domain, multiple 8) gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous null mutants show autofluorescent storage material in brain, abnormal clasping behavior, spasticity, ataxia and increased adult mortality. In addition, lipofuscin pigments in pancreas, bone marrow histiocytosis and splenomegaly are observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	G	A	5: 30,404,489 (GRCm39)	H316Y	possibly damaging	Het
Adgrf5	A	G	17: 43,739,477 (GRCm39)	Y72C	possibly damaging	Het
Ak5	T	A	3: 152,366,274 (GRCm39)	L42F	probably damaging	Het
Alas1	T	C	9: 106,118,489 (GRCm39)	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,490,520 (GRCm39)		probably benign	Het
Als2cl	T	C	9: 110,714,506 (GRCm39)	V118A	probably benign	Het
Ano1	G	C	7: 144,165,127 (GRCm39)	L641V	probably damaging	Het
Arfgef1	C	T	1: 10,258,977 (GRCm39)		probably null	Het
Atf6b	A	T	17: 34,867,549 (GRCm39)		probably null	Het
Atf7ip	T	G	6: 136,586,346 (GRCm39)		probably benign	Het
Atp2b4	G	T	1: 133,654,275 (GRCm39)	Q777K	probably benign	Het
Baz2a	T	A	10: 127,949,447 (GRCm39)	S347R	probably damaging	Het
C2cd3	T	C	7: 100,104,700 (GRCm39)		probably benign	Het
Cage1	A	G	13: 38,207,356 (GRCm39)	V163A	probably benign	Het
Cdh12	T	A	15: 21,583,826 (GRCm39)	N555K	probably benign	Het
Cenpj	G	A	14: 56,801,412 (GRCm39)	P187L	possibly damaging	Het
Cep112	T	A	11: 108,410,087 (GRCm39)		probably null	Het
Cfap54	A	T	10: 92,778,841 (GRCm39)		probably benign	Het
Cgref1	T	G	5: 31,090,989 (GRCm39)	D275A	possibly damaging	Het
Clgn	A	C	8: 84,126,607 (GRCm39)	N103H	probably benign	Het
Corin	A	G	5: 72,473,394 (GRCm39)	V905A	possibly damaging	Het
Csta1	A	C	16: 35,942,692 (GRCm39)	D72E	probably benign	Het
Cul5	A	T	9: 53,578,456 (GRCm39)	L44Q	probably damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dync1i2	G	A	2: 71,080,197 (GRCm39)		probably null	Het
Enoph1	A	G	5: 100,207,078 (GRCm39)	D55G	probably damaging	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Fhip2b	A	G	14: 70,822,489 (GRCm39)	V744A	possibly damaging	Het
Foxi2	G	T	7: 135,012,406 (GRCm39)	G98V	probably damaging	Het
Galr2	T	C	11: 116,173,765 (GRCm39)	S132P	probably damaging	Het
Gcm2	T	C	13: 41,263,430 (GRCm39)	M1V	probably null	Het
Gm15446	C	T	5: 110,090,362 (GRCm39)	H205Y	probably damaging	Het
Gm21775	T	A	Y: 10,553,910 (GRCm39)	I153N	probably benign	Het
Grip1	A	G	10: 119,874,603 (GRCm39)	K789R	possibly damaging	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Herc2	T	A	7: 55,813,645 (GRCm39)	H2625Q	probably damaging	Het
Hoxc9	A	G	15: 102,892,555 (GRCm39)	D256G	probably benign	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Irf2	A	T	8: 47,260,380 (GRCm39)	N104I	probably damaging	Het
Kat6a	A	G	8: 23,429,321 (GRCm39)	N1559D	possibly damaging	Het
Kcnq4	G	T	4: 120,555,199 (GRCm39)	F661L	probably benign	Het
Kdm5b	T	A	1: 134,540,952 (GRCm39)	D681E	probably benign	Het
Khdrbs1	T	C	4: 129,619,514 (GRCm39)	E209G	probably damaging	Het
Lama3	A	T	18: 12,661,390 (GRCm39)	R2116S	probably damaging	Het
Mir124-2hg	C	A	3: 17,839,877 (GRCm39)	E65*	probably null	Het
Mphosph10	T	A	7: 64,026,499 (GRCm39)	L650F	probably damaging	Het
Mrpl48	T	C	7: 100,198,540 (GRCm39)	E204G	probably damaging	Het
Msl3l2	T	A	10: 55,992,040 (GRCm39)	L255Q	probably damaging	Het
Mx1	T	A	16: 97,255,379 (GRCm39)	K225*	probably null	Het
Nf1	T	C	11: 79,447,549 (GRCm39)	V435A	probably damaging	Het
Nid1	A	C	13: 13,675,058 (GRCm39)	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,256,787 (GRCm39)	I46K	possibly damaging	Het
Nop2	T	A	6: 125,116,823 (GRCm39)	M359K	probably null	Het
Nox1	T	C	X: 132,995,993 (GRCm39)		probably benign	Het
Ogdhl	G	A	14: 32,054,841 (GRCm39)	R263K	probably damaging	Het
Or14c40	A	T	7: 86,313,591 (GRCm39)	K240N	probably damaging	Het
Or2y16	T	A	11: 49,335,278 (GRCm39)	V200E	probably damaging	Het
Pbsn	T	C	X: 76,891,582 (GRCm39)	K72E	probably damaging	Het
Pde12	T	C	14: 26,390,035 (GRCm39)	I225V	probably benign	Het
Prl3a1	A	G	13: 27,454,127 (GRCm39)	D35G	probably benign	Het
Prss3b	G	A	6: 41,009,315 (GRCm39)	T173I	probably benign	Het
Ptprk	T	A	10: 28,442,599 (GRCm39)	I893N	probably damaging	Het
Ptprz1	T	C	6: 22,986,322 (GRCm39)		probably benign	Het
Rab3c	A	G	13: 110,397,050 (GRCm39)	V72A	probably damaging	Het
Rbms2	A	G	10: 127,973,387 (GRCm39)	S251P	probably benign	Het
Rfwd3	A	G	8: 112,024,127 (GRCm39)	V65A	probably benign	Het
Rps6kl1	T	A	12: 85,186,397 (GRCm39)	Y211F	probably benign	Het
Saal1	T	C	7: 46,348,880 (GRCm39)	Q317R	probably damaging	Het
Scg3	T	C	9: 75,572,998 (GRCm39)	D311G	probably damaging	Het
Sdk2	C	A	11: 113,745,158 (GRCm39)	M712I	probably damaging	Het
Serinc2	T	G	4: 130,154,578 (GRCm39)	Y158S	probably damaging	Het
Serpinb9c	A	T	13: 33,340,854 (GRCm39)	C81*	probably null	Het
Sgpp2	T	A	1: 78,393,588 (GRCm39)	L197Q	probably damaging	Het
Shroom3	A	T	5: 92,831,643 (GRCm39)	T40S	probably damaging	Het
Sik1	A	G	17: 32,067,771 (GRCm39)	S435P	probably benign	Het
Slc7a3	A	G	X: 100,124,373 (GRCm39)	V464A	probably benign	Het
Snd1	T	C	6: 28,745,206 (GRCm39)	F517S	probably damaging	Het
Spata13	A	C	14: 60,997,040 (GRCm39)	I1165L	possibly damaging	Het
St8sia5	A	T	18: 77,342,459 (GRCm39)	I390F	probably damaging	Het
Stat5b	A	T	11: 100,678,158 (GRCm39)	S652T	probably benign	Het
Stom	A	G	2: 35,206,037 (GRCm39)	S231P	probably damaging	Het
Sult1b1	A	G	5: 87,682,892 (GRCm39)	Y18H	probably damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Tmem176b	G	A	6: 48,813,267 (GRCm39)	T64I	probably damaging	Het
Tmem87a	A	T	2: 120,199,773 (GRCm39)	I457N	probably damaging	Het
Trim12c	A	G	7: 103,997,398 (GRCm39)	F53L	possibly damaging	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ubap2l	A	T	3: 89,938,683 (GRCm39)		probably benign	Het
Ush2a	T	G	1: 188,113,746 (GRCm39)		probably null	Het
Usp17la	A	C	7: 104,510,378 (GRCm39)	T328P	probably damaging	Het
Ust	A	G	10: 8,083,330 (GRCm39)	Y349H	probably damaging	Het
V1rd19	A	T	7: 23,703,259 (GRCm39)	M242L	probably benign	Het
Vmn1r33	T	A	6: 66,589,186 (GRCm39)	M123L	probably benign	Het
Vps13c	A	T	9: 67,768,115 (GRCm39)	K111N	probably damaging	Het
Vwa3a	A	G	7: 120,358,172 (GRCm39)	D81G	probably damaging	Het
Zfp318	G	A	17: 46,707,950 (GRCm39)	R336Q	probably damaging	Het
Zfp609	A	G	9: 65,611,716 (GRCm39)	S416P	possibly damaging	Het

Other mutations in Ppt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02033:Ppt2	APN	17	34,844,728 (GRCm39)	splice site	probably benign
R0180:Ppt2	UTSW	17	34,845,477 (GRCm39)	missense	probably damaging	1.00
R0685:Ppt2	UTSW	17	34,845,546 (GRCm39)	missense	probably damaging	0.98
R1498:Ppt2	UTSW	17	34,842,075 (GRCm39)	missense	probably benign	0.00
R2058:Ppt2	UTSW	17	34,841,818 (GRCm39)	splice site	probably benign
R3919:Ppt2	UTSW	17	34,841,897 (GRCm39)	missense	probably damaging	1.00
R4622:Ppt2	UTSW	17	34,844,875 (GRCm39)	missense	probably benign	0.16
R5582:Ppt2	UTSW	17	34,836,373 (GRCm39)	missense	probably damaging	0.99
R5638:Ppt2	UTSW	17	34,844,823 (GRCm39)	missense	probably benign	0.37
R6502:Ppt2	UTSW	17	34,844,894 (GRCm39)	missense	probably damaging	1.00
R7065:Ppt2	UTSW	17	34,841,829 (GRCm39)	missense	probably damaging	1.00
R7523:Ppt2	UTSW	17	34,845,777 (GRCm39)	critical splice donor site	probably null
R7587:Ppt2	UTSW	17	34,845,777 (GRCm39)	critical splice donor site	probably null
R7782:Ppt2	UTSW	17	34,844,686 (GRCm39)	missense	probably benign	0.05
R7910:Ppt2	UTSW	17	34,846,300 (GRCm39)	splice site	probably null
R8708:Ppt2	UTSW	17	34,844,613 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- ATACCAGTTTGCTTGCTTGC -3'
(R):5'- CAATGCCACTGGTAAGACCG -3'

Sequencing Primer
(F):5'- TGCCTAGCATGTGAAAGTCC -3'
(R):5'- TGGTAAGACCGCCACTTCC -3'

Posted On

2014-09-17