Mutagenetix > Incidental Mutations

Incidental Mutation 'R4913:Pink1'

379689

Institutional Source

Beutler Lab

Gene Symbol

Pink1

Ensembl Gene

ENSMUSG00000028756

Gene Name

PTEN induced putative kinase 1

Synonyms

1190006F07Rik, brpk

MMRRC Submission

042515-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4913 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138313409-138326307 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 138315555 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 446 (S446*)

Ref Sequence

ENSEMBL: ENSMUSP00000101443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030536] [ENSMUST00000030538] [ENSMUST00000105816] [ENSMUST00000105817]

Predicted Effect

probably null
Transcript: ENSMUST00000030536
AA Change: S476*

SMART Domains

Protein: ENSMUSP00000030536
Gene: ENSMUSG00000028756
AA Change: S476*

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: ENSMUST00000030538

SMART Domains

Protein: ENSMUSP00000030538
Gene: ENSMUSG00000028757

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:DDOST_48kD	32	441	4.5e-155	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000105816
AA Change: S64*

SMART Domains

Protein: ENSMUSP00000101442
Gene: ENSMUSG00000028756
AA Change: S64*

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
AA Change: S446*

SMART Domains

Protein: ENSMUSP00000101443
Gene: ENSMUSG00000028756
AA Change: S446*

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: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	G	6: 149,329,389	S1311C	probably damaging	Het
9430007A20Rik	T	A	4: 144,528,811	M267K	possibly damaging	Het
Acsm5	T	C	7: 119,534,343	S244P	probably damaging	Het
Actr6	A	G	10: 89,714,946	F329L	probably benign	Het
Actrt3	A	G	3: 30,598,439	S169P	probably benign	Het
Agtpbp1	C	A	13: 59,500,072	G645C	probably damaging	Het
AI661453	C	T	17: 47,468,555	R1069*	probably null	Het
Akr1c6	T	C	13: 4,454,525	I303T	probably benign	Het
Arnt	A	G	3: 95,490,654	R588G	probably damaging	Het
Atf1	A	G	15: 100,252,098		probably null	Het
BC052040	A	G	2: 115,670,087		probably null	Het
Casp12	T	C	9: 5,358,726	V318A	probably damaging	Het
Cblb	C	T	16: 52,166,029	P545L	possibly damaging	Het
Cc2d2a	A	T	5: 43,739,323	I1521F	probably benign	Het
Ccnb1ip1	T	A	14: 50,792,144	K154*	probably null	Het
Cd300a	A	T	11: 114,893,372	K69*	probably null	Het
Clec10a	A	G	11: 70,170,025	Y78C	probably damaging	Het
Cnot1	T	C	8: 95,763,067	I503V	possibly damaging	Het
Cpa2	A	G	6: 30,554,293	H304R	probably damaging	Het
Crb2	A	T	2: 37,790,245	H395L	probably benign	Het
Ctgf	T	C	10: 24,597,327	C255R	probably damaging	Het
Dnah8	T	A	17: 30,819,139	N4257K	probably damaging	Het
Dnase2a	G	A	8: 84,908,848	D25N	probably damaging	Het
Drd1	T	C	13: 54,053,167	T343A	probably benign	Het
Emid1	G	A	11: 5,132,012	T161I	probably benign	Het
Epn2	A	G	11: 61,534,576		probably null	Het
Esp36	A	T	17: 38,417,164	N75K	possibly damaging	Het
Faf1	A	G	4: 109,935,549	S573G	possibly damaging	Het
Fam149a	T	G	8: 45,353,883	S231R	probably damaging	Het
Fam78a	T	C	2: 32,069,762	E112G	probably damaging	Het
Fgf18	T	C	11: 33,134,316	D46G	probably benign	Het
Fggy	G	A	4: 95,697,076		probably null	Het
Foxb1	T	C	9: 69,759,577	M224V	probably benign	Het
Gpr75	T	C	11: 30,891,808	C238R	possibly damaging	Het
Gsdmc3	A	G	15: 63,858,273	*481R	probably null	Het
H2afv	C	A	11: 6,433,750	A57S	probably damaging	Het
Hsd17b11	T	C	5: 103,992,882	I250V	probably benign	Het
Hus1	C	A	11: 8,996,856	L280F	probably benign	Het
Ide	A	T	19: 37,329,070	H101Q	unknown	Het
Ido1	T	C	8: 24,584,517	D279G	probably benign	Het
Inpp5b	T	C	4: 124,780,421	V307A	probably benign	Het
Ipo5	G	A	14: 120,935,086	V519I	probably damaging	Het
Krba1	T	C	6: 48,406,957	V239A	probably benign	Het
Lmod3	A	G	6: 97,247,164		probably null	Het
Macf1	T	C	4: 123,499,889	D836G	probably damaging	Het
Malt1	G	T	18: 65,476,280	C774F	probably damaging	Het
Map2k4	C	A	11: 65,709,932	D58Y	probably damaging	Het
Mc2r	T	C	18: 68,407,340	N294S	probably benign	Het
Mybpc1	A	G	10: 88,553,254		probably null	Het
Mybpc3	A	G	2: 91,126,264	E637G	possibly damaging	Het
Narf	A	G	11: 121,244,643	Q107R	probably damaging	Het
Nlrp3	G	A	11: 59,549,238	G547D	probably benign	Het
Nucb2	G	T	7: 116,524,305	G51*	probably null	Het
Olfr121	T	A	17: 37,752,424	V190D	possibly damaging	Het
Otog	C	A	7: 46,264,102	D786E	probably benign	Het
Otogl	T	C	10: 107,876,855	T543A	probably damaging	Het
Phf20l1	A	G	15: 66,604,855	N266S	probably benign	Het
Pkp4	T	G	2: 59,305,450	H186Q	probably damaging	Het
Prl3b1	T	C	13: 27,249,477	V205A	probably damaging	Het
Prss32	T	C	17: 23,859,183	V281A	probably damaging	Het
Psd3	C	T	8: 68,121,169	C120Y	probably damaging	Het
Ptcra	A	G	17: 46,758,648	L99P	probably damaging	Het
Rab3gap2	C	T	1: 185,262,829	T855I	probably benign	Het
Rabgap1l	T	C	1: 160,238,541	E199G	probably damaging	Het
Rbm44	T	A	1: 91,155,494	C580S	probably damaging	Het
Rhoq	T	C	17: 86,995,065	V143A	probably benign	Het
Sacs	T	A	14: 61,213,797	Y4431N	probably benign	Het
Sec24b	A	T	3: 130,002,379	S367T	probably benign	Het
Sema4c	G	A	1: 36,550,185	S620F	probably benign	Het
Slc12a1	G	A	2: 125,228,750	G1054E	probably damaging	Het
Slc16a3	A	G	11: 120,957,968	R417G	probably benign	Het
Slc22a29	A	T	19: 8,218,358	S106T	probably benign	Het
Slc41a2	T	C	10: 83,313,420	T220A	probably damaging	Het
Tap1	T	C	17: 34,193,494	F474L	possibly damaging	Het
Tas2r106	G	T	6: 131,678,459	A143D	probably benign	Het
Tbx6	A	T	7: 126,784,535		probably null	Het
Tfap2a	T	A	13: 40,717,230	N402I	probably damaging	Het
Tle3	T	A	9: 61,373,993	V22E	probably damaging	Het
Tmem8	T	C	17: 26,120,539	F584L	probably damaging	Het
Trip4	T	C	9: 65,858,357	I353M	probably damaging	Het
Ubr2	C	A	17: 46,959,459		probably null	Het
Ugdh	A	G	5: 65,423,448		probably null	Het
Uhrf1	T	C	17: 56,315,478	V431A	probably damaging	Het
Usp5	C	G	6: 124,822,630	K318N	possibly damaging	Het
Zfp820	T	C	17: 21,819,219	K376R	probably benign	Het

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
R5830:Pink1	UTSW	4	138316014	start codon destroyed	probably null	1.00
R6369:Pink1	UTSW	4	138320734	splice site	probably null
R7090:Pink1	UTSW	4	138315601	missense	probably damaging	0.99
R7136:Pink1	UTSW	4	138317458	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTACCCTGTTCTGTAGCTGG -3'
(R):5'- CACAAAAGATGGGCCCAGTG -3'

Sequencing Primer
(F):5'- TCTGTAGCTGGCCTTTGC -3'
(R):5'- CAGGTGTCCACAGCCCATTC -3'

Posted On

2016-04-15