Mutagenetix > Incidental Mutation

Incidental Mutation 'R0637:Pink1'

56734

Institutional Source

Beutler Lab

Gene Symbol

Pink1

Ensembl Gene

ENSMUSG00000028756

Gene Name

PTEN induced putative kinase 1

Synonyms

brpk, 1190006F07Rik

MMRRC Submission

038826-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0637 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138040720-138053618 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 138045357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 239 (P239Q)

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: P269Q

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

SMART Domains

Protein: ENSMUSP00000030536
Gene: ENSMUSG00000028756
AA Change: P269Q

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: P239Q

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

SMART Domains

Protein: ENSMUSP00000101443
Gene: ENSMUSG00000028756
AA Change: P239Q

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

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 94.9%

Validation Efficiency

100% (68/68)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	C	T	9: 53,498,831 (GRCm39)	D285N	probably damaging	Het
Aldh3a1	G	A	11: 61,106,304 (GRCm39)		probably benign	Het
Alms1	A	G	6: 85,600,015 (GRCm39)	T2083A	possibly damaging	Het
Atrip	C	T	9: 108,890,241 (GRCm39)	M143I	possibly damaging	Het
Aup1	T	A	6: 83,033,842 (GRCm39)	V344D	probably damaging	Het
Baiap2	G	A	11: 119,891,405 (GRCm39)	V511M	probably benign	Het
Bnip2	T	A	9: 69,910,955 (GRCm39)		probably null	Het
Cacna1i	A	T	15: 80,256,855 (GRCm39)	Y1083F	probably damaging	Het
Cbr4	T	C	8: 61,943,740 (GRCm39)		probably benign	Het
Ces2b	C	T	8: 105,561,237 (GRCm39)		probably benign	Het
Chd1	A	G	17: 15,962,550 (GRCm39)	N769S	possibly damaging	Het
Clca3b	A	T	3: 144,533,701 (GRCm39)	V558D	probably benign	Het
Col12a1	T	C	9: 79,564,017 (GRCm39)	D1736G	probably benign	Het
Cpne8	C	A	15: 90,532,824 (GRCm39)	C61F	probably damaging	Het
Cxcr1	A	G	1: 74,231,998 (GRCm39)	I8T	probably benign	Het
D630003M21Rik	T	G	2: 158,037,327 (GRCm39)		probably benign	Het
Dcaf17	T	A	2: 70,890,763 (GRCm39)	D99E	probably damaging	Het
Fbf1	C	T	11: 116,050,880 (GRCm39)		probably benign	Het
Fgfr2	T	A	7: 129,773,354 (GRCm39)	H570L	possibly damaging	Het
Gars1	G	A	6: 55,046,472 (GRCm39)		probably null	Het
Gm10309	A	G	17: 86,806,463 (GRCm39)		probably benign	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,649,766 (GRCm39)		noncoding transcript	Het
Gm9892	G	A	8: 52,649,860 (GRCm39)	Q78*	probably null	Het
Has1	A	G	17: 18,064,125 (GRCm39)	Y505H	possibly damaging	Het
Hivep3	T	A	4: 119,989,738 (GRCm39)	L2063*	probably null	Het
Il1rl1	CTTGTTGTTGTTGTTGTTG	CTTGTTGTTGTTGTTGTTGTTG	1: 40,481,734 (GRCm39)		probably benign	Het
Itgb3	T	C	11: 104,549,702 (GRCm39)	V614A	probably benign	Het
Lrrc23	A	G	6: 124,755,321 (GRCm39)		probably benign	Het
Lrrc63	A	T	14: 75,335,660 (GRCm39)		probably benign	Het
Mfhas1	C	T	8: 36,057,180 (GRCm39)	R357*	probably null	Het
Mink1	C	A	11: 70,492,502 (GRCm39)	N123K	probably damaging	Het
Mtmr4	A	G	11: 87,501,890 (GRCm39)	H591R	probably benign	Het
Nav3	T	C	10: 109,606,058 (GRCm39)	T923A	probably benign	Het
Ncapg	A	G	5: 45,844,666 (GRCm39)	T554A	probably damaging	Het
Nfe2l1	T	C	11: 96,718,514 (GRCm39)	Y7C	probably damaging	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Obscn	A	T	11: 58,942,470 (GRCm39)	M4904K	probably damaging	Het
Obscn	G	T	11: 58,973,602 (GRCm39)	L1910I	probably damaging	Het
Or8b41	T	C	9: 38,055,178 (GRCm39)	F244S	probably benign	Het
Pcdhb15	T	A	18: 37,608,619 (GRCm39)	V617E	probably damaging	Het
Pelp1	T	C	11: 70,286,530 (GRCm39)	T533A	possibly damaging	Het
Pgrmc1	T	C	X: 35,865,924 (GRCm39)	F160S	probably damaging	Het
Pramel25	A	T	4: 143,520,479 (GRCm39)	Y77F	probably benign	Het
Prr27	A	G	5: 87,999,005 (GRCm39)		probably benign	Het
Rbpms	G	A	8: 34,296,864 (GRCm39)	P138S	probably damaging	Het
Rcc2	T	C	4: 140,445,055 (GRCm39)		probably benign	Het
Rgs3	T	C	4: 62,564,910 (GRCm39)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Robo1	C	T	16: 72,798,839 (GRCm39)	T933M	probably benign	Het
Sinhcaf	A	G	6: 148,832,163 (GRCm39)		probably benign	Het
Steap4	T	C	5: 8,028,398 (GRCm39)		probably benign	Het
Tenm3	T	C	8: 48,689,560 (GRCm39)	Y2009C	probably damaging	Het
Tnr	A	C	1: 159,677,905 (GRCm39)	T97P	possibly damaging	Het
Topaz1	T	A	9: 122,620,542 (GRCm39)	L1320*	probably null	Het
Topaz1	A	G	9: 122,626,727 (GRCm39)	M1452V	probably benign	Het
Trank1	T	G	9: 111,219,509 (GRCm39)	F2082C	probably damaging	Het
Trim24	C	A	6: 37,935,494 (GRCm39)		probably null	Het
Tspoap1	T	A	11: 87,668,066 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,126,926 (GRCm39)	L483P	probably damaging	Het
Vmn2r2	T	A	3: 64,033,999 (GRCm39)	T508S	probably benign	Het
Vps18	C	T	2: 119,124,386 (GRCm39)	R438C	probably damaging	Het
Zfp366	C	A	13: 99,365,474 (GRCm39)	R212S	probably damaging	Het
Zkscan4	T	A	13: 21,665,477 (GRCm39)	C122S	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
R0400:Pink1	UTSW	4	138,045,229 (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'- TCATAACGAGGAACAGTGTGCGAC -3'
(R):5'- GAGTAGCATTGCCCAAGGACTGAG -3'

Sequencing Primer
(F):5'- CATATCAGGATAGTCAGCCAGG -3'
(R):5'- TTCCACCATGTGAGATGGATAG -3'

Posted On

2013-07-11