Mutagenetix > Incidental Mutation

Incidental Mutation 'R0400:Pink1'

38117

Institutional Source

Beutler Lab

Gene Symbol

Pink1

Ensembl Gene

ENSMUSG00000028756

Gene Name

PTEN induced putative kinase 1

Synonyms

brpk, 1190006F07Rik

MMRRC Submission

038605-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138040720-138053618 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138045229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 282 (T282A)

Ref Sequence

ENSEMBL: ENSMUSP00000101443 (fasta)

Gene Model

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

AlphaFold

Q99MQ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000030536
AA Change: T312A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030536
Gene: ENSMUSG00000028756
AA Change: T312A

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 damaging
Transcript: ENSMUST00000105817
AA Change: T282A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101443
Gene: ENSMUSG00000028756
AA Change: T282A

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

Meta Mutation Damage Score

0.7933

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	T	A	11: 30,376,360 (GRCm39)	H169L	probably benign	Het
9130230L23Rik	T	C	5: 66,147,699 (GRCm39)	D28G	unknown	Het
Abca12	T	A	1: 71,298,935 (GRCm39)		probably benign	Het
Acsl5	T	C	19: 55,282,143 (GRCm39)	V573A	probably damaging	Het
Agap1	A	G	1: 89,770,972 (GRCm39)		probably benign	Het
Arid2	A	G	15: 96,254,806 (GRCm39)		probably benign	Het
B430305J03Rik	T	A	3: 61,271,556 (GRCm39)		probably benign	Het
Brsk2	T	C	7: 141,552,290 (GRCm39)	L584P	probably damaging	Het
C2cd4c	A	G	10: 79,449,043 (GRCm39)	Y35H	probably damaging	Het
Cacul1	A	G	19: 60,551,591 (GRCm39)		probably benign	Het
Cers3	T	C	7: 66,414,078 (GRCm39)	V88A	probably benign	Het
Cnnm1	A	T	19: 43,456,803 (GRCm39)	H614L	probably damaging	Het
Col1a1	T	A	11: 94,832,195 (GRCm39)		probably benign	Het
Cyp1b1	T	A	17: 80,021,016 (GRCm39)	D242V	probably damaging	Het
Cyp4a31	T	C	4: 115,420,915 (GRCm39)	M1T	probably null	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Dclk2	A	T	3: 86,721,054 (GRCm39)		probably null	Het
Dnah17	A	G	11: 117,972,904 (GRCm39)	S2010P	probably damaging	Het
Dram2	T	C	3: 106,480,934 (GRCm39)	L246P	probably damaging	Het
Dus2	A	T	8: 106,775,309 (GRCm39)	T279S	probably benign	Het
Epn2	T	C	11: 61,423,522 (GRCm39)		probably null	Het
Esco2	C	A	14: 66,069,155 (GRCm39)	V52F	possibly damaging	Het
Fbp1	T	A	13: 63,012,882 (GRCm39)	T104S	probably benign	Het
Foxj2	A	T	6: 122,810,767 (GRCm39)	Q249L	possibly damaging	Het
Galnt7	T	C	8: 58,037,023 (GRCm39)	Y122C	probably damaging	Het
Gimd1	T	C	3: 132,340,588 (GRCm39)	Y35H	probably benign	Het
Gipc2	A	G	3: 151,871,305 (GRCm39)	F74L	probably damaging	Het
Glt1d1	T	A	5: 127,734,139 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,290,141 (GRCm39)	T2325A	probably damaging	Het
Iffo1	A	G	6: 125,130,434 (GRCm39)	K471R	probably damaging	Het
Ireb2	G	A	9: 54,803,782 (GRCm39)	R491H	probably benign	Het
Isg20	A	G	7: 78,566,473 (GRCm39)	N141D	possibly damaging	Het
Kmt5c	G	A	7: 4,749,243 (GRCm39)	R100H	probably benign	Het
Lrp1b	T	C	2: 40,640,926 (GRCm39)	D3506G	probably benign	Het
Lrrn4	A	C	2: 132,719,940 (GRCm39)	F287V	probably benign	Het
Maco1	T	C	4: 134,555,427 (GRCm39)	K349E	probably benign	Het
Mmrn1	A	C	6: 60,954,099 (GRCm39)	K793N	probably benign	Het
Muc16	A	G	9: 18,421,830 (GRCm39)	V8227A	possibly damaging	Het
Myh2	C	T	11: 67,083,424 (GRCm39)		probably benign	Het
Nalcn	T	A	14: 123,528,372 (GRCm39)		probably benign	Het
Nfia	T	C	4: 97,951,373 (GRCm39)	V400A	probably damaging	Het
Nxph4	T	A	10: 127,362,127 (GRCm39)	T255S	possibly damaging	Het
Olfm5	G	A	7: 103,803,386 (GRCm39)	T359I	probably damaging	Het
Or1e33	T	C	11: 73,738,867 (GRCm39)	Y28C	probably benign	Het
Or5t18	A	G	2: 86,636,995 (GRCm39)	M116T	probably damaging	Het
Or8b44	A	G	9: 38,410,207 (GRCm39)	M81V	possibly damaging	Het
Or8g21	G	T	9: 38,906,494 (GRCm39)	P79Q	probably damaging	Het
Pak5	T	C	2: 135,939,499 (GRCm39)	I545M	possibly damaging	Het
Pcdhb15	T	C	18: 37,608,948 (GRCm39)	F727L	probably benign	Het
Pds5b	T	A	5: 150,646,818 (GRCm39)	N202K	possibly damaging	Het
Phlpp1	T	A	1: 106,320,664 (GRCm39)	I1553N	probably benign	Het
Prdm2	A	G	4: 142,838,240 (GRCm39)	F1706S	probably benign	Het
Pycr1	G	A	11: 120,532,352 (GRCm39)		probably benign	Het
Rigi	A	G	4: 40,235,257 (GRCm39)	Y78H	probably benign	Het
Skint9	A	G	4: 112,271,198 (GRCm39)	S71P	probably damaging	Het
Smad1	A	G	8: 80,098,399 (GRCm39)		probably benign	Het
Snapc5	A	T	9: 64,087,789 (GRCm39)	E33D	probably damaging	Het
Snrnp40	T	C	4: 130,256,443 (GRCm39)	L56P	probably damaging	Het
Stab2	A	C	10: 86,708,474 (GRCm39)	I1697S	probably damaging	Het
Tfap2a	G	T	13: 40,870,888 (GRCm39)		probably benign	Het
Tph2	A	G	10: 114,916,025 (GRCm39)		probably benign	Het
Triml1	A	G	8: 43,594,077 (GRCm39)	V118A	probably benign	Het
Ttbk2	T	A	2: 120,580,723 (GRCm39)	T538S	probably benign	Het
Ttn	A	G	2: 76,545,616 (GRCm39)	V32569A	possibly damaging	Het
U2af1	T	A	17: 31,867,166 (GRCm39)	Y158F	probably benign	Het
Usp7	A	T	16: 8,534,496 (GRCm39)		probably benign	Het
Vdr	A	G	15: 97,767,232 (GRCm39)	S179P	probably benign	Het
Vps13d	A	C	4: 144,792,397 (GRCm39)	S663A	probably benign	Het
Wdr62	T	A	7: 29,940,887 (GRCm39)	T844S	possibly damaging	Het
Wipi1	C	T	11: 109,467,956 (GRCm39)	R407Q	probably damaging	Het
Zbtb43	A	G	2: 33,343,909 (GRCm39)	C439R	probably damaging	Het
Zfp507	T	A	7: 35,491,171 (GRCm39)	H704L	probably damaging	Het
Zzef1	G	A	11: 72,786,068 (GRCm39)	R2080K	probably damaging	Het

Other mutations in Pink1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Pink1	APN	4	138,047,408 (GRCm39)	splice site	probably null
IGL01998:Pink1	APN	4	138,048,053 (GRCm39)	missense	probably damaging	1.00
R0013:Pink1	UTSW	4	138,044,712 (GRCm39)	missense	probably benign	0.00
R0092:Pink1	UTSW	4	138,047,309 (GRCm39)	missense	probably benign	0.00
R0183:Pink1	UTSW	4	138,041,490 (GRCm39)	missense	probably damaging	1.00
R0637:Pink1	UTSW	4	138,045,357 (GRCm39)	missense	probably damaging	1.00
R1808:Pink1	UTSW	4	138,044,630 (GRCm39)	missense	probably damaging	1.00
R1876:Pink1	UTSW	4	138,043,013 (GRCm39)	missense	probably damaging	1.00
R1918:Pink1	UTSW	4	138,041,331 (GRCm39)	missense	probably benign	0.31
R1919:Pink1	UTSW	4	138,041,331 (GRCm39)	missense	probably benign	0.31
R2012:Pink1	UTSW	4	138,045,316 (GRCm39)	missense	probably null	0.05
R2034:Pink1	UTSW	4	138,045,343 (GRCm39)	missense	possibly damaging	0.88
R4120:Pink1	UTSW	4	138,042,822 (GRCm39)	nonsense	probably null
R4613:Pink1	UTSW	4	138,044,621 (GRCm39)	missense	probably damaging	1.00
R4913:Pink1	UTSW	4	138,042,866 (GRCm39)	nonsense	probably null
R5830:Pink1	UTSW	4	138,043,325 (GRCm39)	start codon destroyed	probably null	1.00
R6369:Pink1	UTSW	4	138,048,045 (GRCm39)	splice site	probably null
R7090:Pink1	UTSW	4	138,042,912 (GRCm39)	missense	probably damaging	0.99
R7136:Pink1	UTSW	4	138,044,769 (GRCm39)	missense	probably damaging	1.00
R7644:Pink1	UTSW	4	138,044,683 (GRCm39)	missense	probably damaging	1.00
R8307:Pink1	UTSW	4	138,045,273 (GRCm39)	missense	probably benign	0.27
R8850:Pink1	UTSW	4	138,047,333 (GRCm39)	missense	probably damaging	1.00
R9031:Pink1	UTSW	4	138,043,056 (GRCm39)	splice site	probably benign
R9184:Pink1	UTSW	4	138,048,321 (GRCm39)	missense	probably benign	0.02
R9210:Pink1	UTSW	4	138,053,278 (GRCm39)	missense	probably benign
R9697:Pink1	UTSW	4	138,041,323 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CCAAATCTCAGAAGCCATGCCAGTG -3'
(R):5'- AGATCCAGAGATGGTCCCAAGCAG -3'

Sequencing Primer
(F):5'- AGCGCCGTCTCTGAAGTTAG -3'
(R):5'- GTCCCAAGCAGCTTGCC -3'

Posted On

2013-05-23