Mutagenetix > Incidental Mutation

Incidental Mutation 'R6502:Ppt2'

519826

Institutional Source

Beutler Lab

Gene Symbol

Ppt2

Ensembl Gene

ENSMUSG00000015474

Gene Name

palmitoyl-protein thioesterase 2

Synonyms

0610007M19Rik

MMRRC Submission

044634-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6502 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34835636-34847484 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34844894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 117 (C117R)

Ref Sequence

ENSEMBL: ENSMUSP00000131243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015620] [ENSMUST00000064953] [ENSMUST00000166040] [ENSMUST00000167097] [ENSMUST00000168391] [ENSMUST00000169067] [ENSMUST00000170345] [ENSMUST00000171121] [ENSMUST00000171376] [ENSMUST00000169287]

AlphaFold

O35448

Predicted Effect

probably benign
Transcript: ENSMUST00000015620

SMART Domains

Protein: ENSMUSP00000015620
Gene: ENSMUSG00000015476

Domain	Start	End	E-Value	Type
low complexity region	17	38	N/A	INTRINSIC
low complexity region	41	49	N/A	INTRINSIC
low complexity region	57	79	N/A	INTRINSIC
low complexity region	84	100	N/A	INTRINSIC
low complexity region	121	144	N/A	INTRINSIC
Pfam:CD225	214	286	3.5e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000064953
AA Change: C117R

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

SMART Domains

Protein: ENSMUSP00000068071
Gene: ENSMUSG00000015474
AA Change: C117R

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 damaging
Transcript: ENSMUST00000166040
AA Change: C117R

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

SMART Domains

Protein: ENSMUSP00000132006
Gene: ENSMUSG00000015474
AA Change: C117R

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 damaging
Transcript: ENSMUST00000167097
AA Change: C117R

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

SMART Domains

Protein: ENSMUSP00000125937
Gene: ENSMUSG00000015474
AA Change: C117R

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 damaging
Transcript: ENSMUST00000168391
AA Change: C117R

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

SMART Domains

Protein: ENSMUSP00000132339
Gene: ENSMUSG00000015474
AA Change: C117R

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 damaging
Transcript: ENSMUST00000169067
AA Change: C117R

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

SMART Domains

Protein: ENSMUSP00000127372
Gene: ENSMUSG00000015474
AA Change: C117R

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 damaging
Transcript: ENSMUST00000170345
AA Change: C117R

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

SMART Domains

Protein: ENSMUSP00000127707
Gene: ENSMUSG00000015474
AA Change: C117R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000171121
AA Change: C117R

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

SMART Domains

Protein: ENSMUSP00000127745
Gene: ENSMUSG00000015474
AA Change: C117R

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 damaging
Transcript: ENSMUST00000171376
AA Change: C117R

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

SMART Domains

Protein: ENSMUSP00000131243
Gene: ENSMUSG00000015474
AA Change: C117R

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

unknown
Transcript: ENSMUST00000169969
AA Change: C97R

SMART Domains

Protein: ENSMUSP00000127726
Gene: ENSMUSG00000015474
AA Change: C97R

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: 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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,333,908 (GRCm39)	I24K	probably benign	Het
Adamts9	A	T	6: 92,849,316 (GRCm39)	C467S	probably damaging	Het
Adcy7	G	A	8: 89,052,107 (GRCm39)	R925Q	probably damaging	Het
Akap6	G	A	12: 53,186,998 (GRCm39)	G1471S	probably damaging	Het
Ap2b1	T	C	11: 83,233,505 (GRCm39)	V506A	probably damaging	Het
Apob	A	G	12: 8,051,814 (GRCm39)	I1113M	probably damaging	Het
Arsg	A	T	11: 109,408,162 (GRCm39)	N105Y	probably damaging	Het
Blm	T	A	7: 80,131,223 (GRCm39)	Y872F	probably damaging	Het
Btaf1	A	T	19: 36,961,017 (GRCm39)	N797Y	probably benign	Het
Camsap1	T	C	2: 25,846,320 (GRCm39)	E201G	probably damaging	Het
Ccdc122	T	A	14: 77,279,509 (GRCm39)		probably null	Homo
Ccdc141	A	G	2: 77,000,745 (GRCm39)	V29A	probably damaging	Het
Cd244a	T	A	1: 171,405,447 (GRCm39)	D277E	probably benign	Het
Cfap157	T	C	2: 32,670,690 (GRCm39)	Y186C	probably damaging	Het
Ciita	C	T	16: 10,329,774 (GRCm39)	A686V	probably damaging	Het
Clptm1l	T	C	13: 73,765,884 (GRCm39)		probably null	Het
Col16a1	C	T	4: 129,949,787 (GRCm39)	P50L	probably damaging	Het
Crisp3	A	T	17: 40,546,804 (GRCm39)	V38D	probably damaging	Het
Cyfip2	T	C	11: 46,112,173 (GRCm39)	E1010G	probably damaging	Het
Dvl3	G	A	16: 20,346,133 (GRCm39)	E488K	probably damaging	Het
Eed	C	A	7: 89,626,237 (GRCm39)	E45D	probably benign	Het
Eln	A	G	5: 134,754,628 (GRCm39)		probably benign	Het
Fah	T	A	7: 84,244,043 (GRCm39)	I239F	probably damaging	Het
Fbxw5	T	A	2: 25,392,448 (GRCm39)	Y77N	possibly damaging	Het
Garnl3	T	C	2: 32,896,833 (GRCm39)	E602G	possibly damaging	Het
Gkn3	A	T	6: 87,365,786 (GRCm39)	M11K	probably benign	Het
Glt1d1	A	G	5: 127,784,045 (GRCm39)	Y333C	probably damaging	Het
Gm10762	A	T	2: 128,809,090 (GRCm39)	Y86*	probably null	Het
Gm14496	A	G	2: 181,642,386 (GRCm39)	M686V	probably benign	Het
Gse1	T	A	8: 121,280,428 (GRCm39)		probably null	Het
Herc4	C	A	10: 63,153,197 (GRCm39)	T1035K	probably benign	Het
Hmcn2	T	A	2: 31,272,490 (GRCm39)	N1323K	probably damaging	Het
Hnrnpd	T	A	5: 100,114,025 (GRCm39)	E3D	probably damaging	Het
Htr7	T	A	19: 35,947,010 (GRCm39)	I335F	probably damaging	Het
Ift70b	T	A	2: 75,767,448 (GRCm39)	N435I	possibly damaging	Het
Itgae	A	T	11: 73,036,418 (GRCm39)	I1119F	probably benign	Het
Lcn11	T	C	2: 25,669,103 (GRCm39)	F137S	probably benign	Het
Lrp3	T	G	7: 34,903,413 (GRCm39)	D311A	possibly damaging	Het
Lrrc1	G	T	9: 77,349,473 (GRCm39)	D364E	probably damaging	Het
Lrrc37a	T	A	11: 103,383,005 (GRCm39)	E2456V	unknown	Het
Lrriq1	T	C	10: 103,063,045 (GRCm39)	Y87C	probably damaging	Het
Mcc	A	T	18: 44,601,457 (GRCm39)	L449*	probably null	Het
Mcc	A	T	18: 44,601,458 (GRCm39)	L624M	probably damaging	Het
Mcm9	T	C	10: 53,488,935 (GRCm39)	T496A	probably damaging	Het
Myef2	T	A	2: 124,958,602 (GRCm39)	D109V	probably damaging	Het
Myom3	C	T	4: 135,489,824 (GRCm39)		probably benign	Het
Nanos1	G	T	19: 60,744,977 (GRCm39)	G92W	possibly damaging	Het
Ncor1	T	A	11: 62,272,240 (GRCm39)	K84*	probably null	Het
Neb	T	A	2: 52,181,094 (GRCm39)	D1171V	probably benign	Het
Notch3	A	G	17: 32,377,191 (GRCm39)	W267R	probably damaging	Het
Or5d39	A	T	2: 87,980,360 (GRCm39)	M1K	probably null	Het
Or8d1	A	C	9: 38,766,933 (GRCm39)	T192P	probably damaging	Het
Per2	A	G	1: 91,355,485 (GRCm39)	S758P	probably benign	Het
Pi4k2a	A	G	19: 42,079,371 (GRCm39)	Q144R	probably benign	Het
Pirb	A	T	7: 3,720,392 (GRCm39)	V327E	probably benign	Het
Pla2g4a	C	T	1: 149,748,367 (GRCm39)	W272*	probably null	Het
Plekha4	T	A	7: 45,180,000 (GRCm39)	M1K	probably null	Het
Prph	A	T	15: 98,954,267 (GRCm39)	I222F	probably damaging	Het
Rbm43	T	C	2: 51,815,588 (GRCm39)	D211G	probably damaging	Het
Rims2	A	G	15: 39,398,251 (GRCm39)	D1072G	probably benign	Het
Rnf123	G	T	9: 107,945,531 (GRCm39)	Q380K	possibly damaging	Het
Rnf145	T	C	11: 44,415,932 (GRCm39)	F49S	probably damaging	Het
Sall4	A	G	2: 168,597,628 (GRCm39)	I404T	probably damaging	Het
Slc25a39	G	A	11: 102,295,286 (GRCm39)	P228L	probably damaging	Het
Tbc1d14	T	C	5: 36,677,825 (GRCm39)	T377A	possibly damaging	Het
Tbc1d17	A	G	7: 44,491,049 (GRCm39)	I555T	probably benign	Het
Tmem131l	A	T	3: 83,829,715 (GRCm39)	S980T	probably damaging	Het
Tmem14a	G	T	1: 21,299,662 (GRCm39)	L97F	possibly damaging	Het
Tmem98	T	C	11: 80,703,461 (GRCm39)	V26A	probably benign	Het
Tmppe	G	T	9: 114,234,720 (GRCm39)	G340W	probably damaging	Het
Tsc1	T	C	2: 28,555,613 (GRCm39)	S237P	probably damaging	Het
Ubr4	C	T	4: 139,171,982 (GRCm39)	R2992W	probably damaging	Het
Ugt2a2	A	G	5: 87,608,318 (GRCm39)	V673A	possibly damaging	Het
Vmn2r19	T	C	6: 123,293,067 (GRCm39)	Y370H	possibly damaging	Het
Vmn2r20	A	G	6: 123,373,342 (GRCm39)	F500S	possibly damaging	Het
Zc3h7b	A	G	15: 81,653,252 (GRCm39)	Y47C	probably benign	Het
Zdhhc13	A	G	7: 48,465,308 (GRCm39)	E406G	possibly damaging	Het
Zfp418	T	C	7: 7,185,599 (GRCm39)	S521P	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
R2059: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
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'- TGAAAGAGAACCGCCATGCC -3'
(R):5'- TCCAGTGGCTATTCTTAAGACC -3'

Sequencing Primer
(F):5'- CAAGGGCCATCAAATCTCTGTG -3'
(R):5'- TCCAGAGGTCCAGAGTTCAATTC -3'

Posted On

2018-06-06