Mutagenetix > Incidental Mutations

Incidental Mutation 'R6369:Pink1'

512842

Institutional Source

Beutler Lab

Gene Symbol

Pink1

Ensembl Gene

ENSMUSG00000028756

Gene Name

PTEN induced putative kinase 1

Synonyms

1190006F07Rik, brpk

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6369 (G1)

Quality Score

208.009

Status

Validated

Chromosome

Chromosomal Location

138313409-138326307 bp(-) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 138320734 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030536] [ENSMUST00000105816] [ENSMUST00000105817]

Predicted Effect

probably null
Transcript: ENSMUST00000030536

SMART Domains

Protein: ENSMUSP00000030536
Gene: ENSMUSG00000028756

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
low complexity region	30	43	N/A	INTRINSIC
low complexity region	88	99	N/A	INTRINSIC
low complexity region	105	110	N/A	INTRINSIC
Pfam:Pkinase	257	508	2.9e-24	PFAM
Pfam:Pkinase_Tyr	306	506	4e-15	PFAM
low complexity region	558	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105816

SMART Domains

Protein: ENSMUSP00000101442
Gene: ENSMUSG00000028756

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	94	4.6e-6	PFAM
Pfam:Pkinase	1	96	8.4e-9	PFAM
low complexity region	146	161	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000105817

SMART Domains

Protein: ENSMUSP00000101443
Gene: ENSMUSG00000028756

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
low complexity region	75	80	N/A	INTRINSIC
Pfam:Pkinase	231	478	7.9e-29	PFAM
Pfam:Pkinase_Tyr	276	476	1.2e-15	PFAM
low complexity region	528	543	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183998

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Some mice homozygous for null mutations exhibit decreased dopamine content, reduced long term potentional and depression, mitochondrial abnormalities, and/or behavioral abnormalities. Some null mice model the early stages of Parkinson Disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	C	T	17: 13,835,343	R571*	probably null	Het
Asb18	A	T	1: 90,014,471	I36N	probably damaging	Het
Ascc3	G	A	10: 50,699,985	G779S	probably damaging	Het
Atl2	T	C	17: 79,854,555	Q205R	probably damaging	Het
Axdnd1	A	G	1: 156,392,745	I235T	probably damaging	Het
Bri3bp	A	G	5: 125,454,701	N237S	probably damaging	Het
Ccdc191	A	G	16: 43,915,485	N256S	probably benign	Het
Cchcr1	T	C	17: 35,528,176	I474T	probably damaging	Het
Cd209c	T	C	8: 3,944,984	Y60C	probably damaging	Het
Cd300c	C	A	11: 114,957,555	D171Y	probably damaging	Het
Crb1	C	T	1: 139,237,462	V975M	probably damaging	Het
Csmd1	C	T	8: 17,535,004		probably benign	Het
Ctnna2	A	G	6: 76,980,695	S524P	possibly damaging	Het
Eno1	T	C	4: 150,239,568		probably null	Het
Ero1l	T	C	14: 45,299,958	I170M	probably damaging	Het
Fam186a	A	G	15: 99,947,331	M344T	unknown	Het
Frem1	A	T	4: 82,913,792		probably null	Het
Gjb5	G	T	4: 127,355,930	D140E	possibly damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Hk2	G	T	6: 82,736,753	S449R	probably damaging	Het
Hs3st3a1	A	T	11: 64,520,601	I322F	probably benign	Het
Itga1	T	C	13: 114,965,660	I1145V	probably damaging	Het
Kcp	A	G	6: 29,484,694	L1295S	probably damaging	Het
Macf1	T	C	4: 123,410,562	D49G	possibly damaging	Het
Mef2b	T	A	8: 70,165,559	D96E	probably benign	Het
Megf10	A	T	18: 57,261,187	D461V	probably benign	Het
Myom1	T	C	17: 71,101,076	S1104P	probably damaging	Het
Nab1	A	G	1: 52,490,222	L172P	probably damaging	Het
Olfr123	T	G	17: 37,795,496	D17E	probably benign	Het
Pate1	A	G	9: 35,687,028	V18A	probably benign	Het
Pnpla1	T	A	17: 28,878,481	I207N	probably damaging	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Ppp1r21	C	A	17: 88,582,412		probably null	Het
Rad52	A	G	6: 119,914,207	E76G	unknown	Het
Rad54l	A	G	4: 116,111,189		probably null	Het
Rasgrf2	T	C	13: 92,131,446	M17V	probably benign	Het
Rbm42	A	G	7: 30,641,313	M411T	unknown	Het
Reln	A	G	5: 22,051,361	I495T	probably benign	Het
Rnf224	A	G	2: 25,235,942	F133S	probably damaging	Het
Rrm1	C	A	7: 102,446,702	H87Q	probably damaging	Het
Sec14l2	T	C	11: 4,103,962	D235G	possibly damaging	Het
Serpinb3d	G	T	1: 107,080,753	N127K	probably benign	Het
Skint7	A	T	4: 111,980,293	E89D	probably benign	Het
Slc22a5	T	G	11: 53,891,370	N57T	probably damaging	Het
Smarcd3	A	T	5: 24,594,984	F263I	probably damaging	Het
Sncaip	A	G	18: 52,868,604	I66V	probably damaging	Het
Syngr1	A	C	15: 80,115,590		probably benign	Het
Tbc1d2	A	G	4: 46,614,420	Y554H	probably benign	Het
Tmem198	T	C	1: 75,479,743	V44A	probably benign	Het
Trappc11	T	C	8: 47,512,285		probably null	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vmn2r111	C	T	17: 22,548,602	C638Y	probably damaging	Het
Washc4	A	G	10: 83,574,444	Y632C	probably damaging	Het
Zfp212	T	C	6: 47,930,897	V270A	probably benign	Het
Zfp92	G	A	X: 73,421,968	R189H	possibly damaging	Homo

Other mutations in Pink1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Pink1	APN	4	138320097	splice site	probably null
IGL01998:Pink1	APN	4	138320742	missense	probably damaging	1.00
R0013:Pink1	UTSW	4	138317401	missense	probably benign	0.00
R0092:Pink1	UTSW	4	138319998	missense	probably benign	0.00
R0183:Pink1	UTSW	4	138314179	missense	probably damaging	1.00
R0400:Pink1	UTSW	4	138317918	missense	probably damaging	1.00
R0637:Pink1	UTSW	4	138318046	missense	probably damaging	1.00
R1808:Pink1	UTSW	4	138317319	missense	probably damaging	1.00
R1876:Pink1	UTSW	4	138315702	missense	probably damaging	1.00
R1918:Pink1	UTSW	4	138314020	missense	probably benign	0.31
R1919:Pink1	UTSW	4	138314020	missense	probably benign	0.31
R2012:Pink1	UTSW	4	138318005	missense	probably null	0.05
R2034:Pink1	UTSW	4	138318032	missense	possibly damaging	0.88
R4120:Pink1	UTSW	4	138315511	nonsense	probably null
R4613:Pink1	UTSW	4	138317310	missense	probably damaging	1.00
R4913:Pink1	UTSW	4	138315555	nonsense	probably null
R5830:Pink1	UTSW	4	138316014	start codon destroyed	probably null	1.00
R7090:Pink1	UTSW	4	138315601	missense	probably damaging	0.99
R7136:Pink1	UTSW	4	138317458	missense	probably damaging	1.00
R7644:Pink1	UTSW	4	138317372	missense	probably damaging	1.00
R8307:Pink1	UTSW	4	138317962	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- TCACAGAACAGAAGCCTGGG -3'
(R):5'- CCGTCTGGAGGATTATCTGATAGG -3'

Sequencing Primer
(F):5'- GCGGCACCATCAGAACTTG -3'
(R):5'- TATCTGATAGGGCAAGCCATTG -3'

Posted On

2018-04-27