Mutagenetix > Incidental Mutation

Incidental Mutation 'R0013:Pink1'

32625

Institutional Source

Beutler Lab

Gene Symbol

Pink1

Ensembl Gene

ENSMUSG00000028756

Gene Name

PTEN induced putative kinase 1

Synonyms

1190006F07Rik, brpk

MMRRC Submission

038308-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0013 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

138313409-138326307 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138317401 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 342 (T342A)

Ref Sequence

ENSEMBL: ENSMUSP00000030536 (fasta)

Gene Model

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

AlphaFold

Q99MQ3

Predicted Effect

probably benign
Transcript: ENSMUST00000030536
AA Change: T342A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030536
Gene: ENSMUSG00000028756
AA Change: T342A

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 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 benign
Transcript: ENSMUST00000105817
AA Change: T312A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101443
Gene: ENSMUSG00000028756
AA Change: T312A

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

94% (79/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,457,512	M156V	probably benign	Het
Adnp2	A	T	18: 80,129,745	V483D	probably damaging	Het
Aff1	G	T	5: 103,828,484	E491*	probably null	Het
Agl	A	T	3: 116,776,608	C911*	probably null	Het
Akt2	A	G	7: 27,636,058	D284G	probably damaging	Het
Alox15	A	G	11: 70,349,635	M240T	possibly damaging	Het
Antxr2	A	G	5: 97,979,985	V229A	probably damaging	Het
Arap2	G	A	5: 62,683,484	L680F	probably damaging	Het
Btaf1	A	G	19: 36,958,373	T188A	probably benign	Het
Btnl6	G	A	17: 34,515,531	Q86*	probably null	Het
C2cd3	T	A	7: 100,416,062	L685H	probably damaging	Het
Cdh23	T	C	10: 60,413,173	T878A	possibly damaging	Het
Clec4b2	T	C	6: 123,202,149	Y137H	probably damaging	Het
Dchs1	T	A	7: 105,755,836	T2500S	possibly damaging	Het
Def6	A	G	17: 28,217,092	Y75C	probably damaging	Het
Dhx33	A	T	11: 70,993,635	F448L	probably damaging	Het
Dner	C	T	1: 84,494,893		probably benign	Het
Dnmbp	G	A	19: 43,902,231	P366S	probably benign	Het
Eif4g3	T	C	4: 138,175,848	C1160R	possibly damaging	Het
Elmod1	G	A	9: 53,912,901		probably benign	Het
Faah	C	A	4: 116,004,391	L305F	probably damaging	Het
Fam71b	A	G	11: 46,406,804	T312A	unknown	Het
Flt1	A	G	5: 147,571,014		probably benign	Het
Fyco1	A	T	9: 123,822,406	N1196K	probably benign	Het
Galnt18	T	C	7: 111,554,457	N320S	probably damaging	Het
Glp2r	C	A	11: 67,709,712	G437V	possibly damaging	Het
Gm4884	T	C	7: 41,044,292	S562P	probably damaging	Het
Gm9936	A	G	5: 114,857,347		probably benign	Het
Gpn2	C	A	4: 133,584,792	P112T	probably damaging	Het
Grm4	A	G	17: 27,431,575	Y816H	probably benign	Het
Helz2	A	T	2: 181,240,959	S14T	probably benign	Het
Htt	T	C	5: 34,820,104	L778P	probably benign	Het
Il11ra1	T	C	4: 41,765,060	S129P	probably damaging	Het
Ints11	T	C	4: 155,887,168	F315S	probably damaging	Het
Itga11	A	T	9: 62,776,613	N1059Y	possibly damaging	Het
Jak3	A	G	8: 71,684,327	S716G	probably damaging	Het
Kcns1	G	T	2: 164,168,643	D65E	probably benign	Het
Kdm5d	A	T	Y: 941,715	K1305N	probably benign	Het
Kif26a	G	T	12: 112,177,880	V1523L	probably benign	Het
Mboat7	A	G	7: 3,683,822	S340P	probably damaging	Het
Mctp2	T	C	7: 72,229,408	I234V	probably benign	Het
Mex3c	G	A	18: 73,590,551	A572T	probably benign	Het
Mpp3	C	A	11: 102,005,425	R424L	probably benign	Het
Mroh4	T	A	15: 74,608,237		probably benign	Het
Myo9a	A	T	9: 59,860,206		probably benign	Het
Myog	T	A	1: 134,290,235	H60Q	probably damaging	Het
Nlrp9a	T	A	7: 26,571,225		probably null	Het
Notch1	A	G	2: 26,473,818	V868A	possibly damaging	Het
Olfr352	A	G	2: 36,870,160	N198S	probably damaging	Het
Olfr59	T	A	11: 74,289,051	I135N	possibly damaging	Het
Olfr73	T	C	2: 88,034,266	Y291C	possibly damaging	Het
Olfr980	A	T	9: 40,006,355	I198N	probably damaging	Het
Plb1	T	A	5: 32,349,615		probably benign	Het
Plec	T	C	15: 76,178,246	D2524G	probably damaging	Het
Plekhg4	G	T	8: 105,375,396	E6*	probably null	Het
Polq	T	C	16: 37,061,839	F1455S	possibly damaging	Het
Ppm1e	A	G	11: 87,249,058		probably benign	Het
Prkaca	G	A	8: 83,988,303	M119I	possibly damaging	Het
Prss46	G	T	9: 110,850,055	S108I	probably damaging	Het
Ptma	C	T	1: 86,529,776		probably benign	Het
Rab11fip4	C	T	11: 79,689,653	T437M	probably benign	Het
Rngtt	T	A	4: 33,379,409	M437K	probably benign	Het
Rrn3	T	A	16: 13,813,113	D604E	possibly damaging	Het
Scn4a	A	G	11: 106,348,405		probably benign	Het
Sis	A	G	3: 72,910,476	L1468P	possibly damaging	Het
Slit3	A	G	11: 35,707,918	M1450V	probably benign	Het
Smg5	T	C	3: 88,349,233	S269P	probably benign	Het
Sntg1	T	C	1: 8,463,462	T323A	probably damaging	Het
Son	C	T	16: 91,651,662	T37I	probably damaging	Het
Stk17b	T	C	1: 53,764,132	I41M	probably benign	Het
Tgm5	T	A	2: 121,076,882	Y120F	probably damaging	Het
Tppp	A	G	13: 74,021,360	K73R	possibly damaging	Het
Ttn	C	T	2: 76,907,752	V4148I	probably benign	Het
Ttn	C	A	2: 76,739,158	K27130N	probably damaging	Het
Uba7	A	T	9: 107,978,249	Y375F	probably damaging	Het
Ugcg	T	C	4: 59,213,931	L171P	possibly damaging	Het
Vsig2	T	C	9: 37,542,576		probably benign	Het
Zcchc11	T	A	4: 108,530,955		probably benign	Het
Zfp839	T	A	12: 110,868,386	S692T	possibly damaging	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
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
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
R7644:Pink1	UTSW	4	138317372	missense	probably damaging	1.00
R8307:Pink1	UTSW	4	138317962	missense	probably benign	0.27
R8850:Pink1	UTSW	4	138320022	missense	probably damaging	1.00
R9031:Pink1	UTSW	4	138315745	splice site	probably benign
R9184:Pink1	UTSW	4	138321010	missense	probably benign	0.02
R9210:Pink1	UTSW	4	138325967	missense	probably benign
R9697:Pink1	UTSW	4	138314012	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AGGGTCTCTAATGCCCCTTCTTGG -3'
(R):5'- GGTCGCACACTGTTCCTCGTTATG -3'

Sequencing Primer
(F):5'- AATGCCCCTTCTTGGAGCAC -3'
(R):5'- TTCAGTGCCAGCTAACTTCAGAG -3'

Posted On

2013-05-09