Mutagenetix > Incidental Mutation

Incidental Mutation 'R2034:Pink1'

224307

Institutional Source

Beutler Lab

Gene Symbol

Pink1

Ensembl Gene

ENSMUSG00000028756

Gene Name

PTEN induced putative kinase 1

Synonyms

brpk, 1190006F07Rik

MMRRC Submission

040041-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2034 (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 138045343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 274 (I274V)

Ref Sequence

ENSEMBL: ENSMUSP00000030536 (fasta)

Gene Model

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

AlphaFold

Q99MQ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030536
AA Change: I274V

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030536
Gene: ENSMUSG00000028756
AA Change: I274V

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

possibly damaging
Transcript: ENSMUST00000105817
AA Change: I244V

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101443
Gene: ENSMUSG00000028756
AA Change: I244V

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

0.0743

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,791,385 (GRCm39)	I65V	probably benign	Het
Abca13	A	G	11: 9,242,628 (GRCm39)	N1497S	possibly damaging	Het
Afmid	C	A	11: 117,726,061 (GRCm39)	N184K	probably benign	Het
Ampd2	A	T	3: 107,984,679 (GRCm39)	I459N	possibly damaging	Het
Anapc1	T	C	2: 128,490,378 (GRCm39)	D1018G	possibly damaging	Het
Ano9	T	A	7: 140,688,048 (GRCm39)	I223F	probably damaging	Het
B3gnt6	A	G	7: 97,843,225 (GRCm39)	L245P	possibly damaging	Het
Bag6	G	A	17: 35,363,668 (GRCm39)	R784Q	probably damaging	Het
Brca1	C	G	11: 101,380,675 (GRCm39)	S1786T	probably benign	Het
Btbd3	T	G	2: 138,120,903 (GRCm39)	S26A	probably benign	Het
Cacna1d	C	A	14: 29,811,820 (GRCm39)	V1277L	probably damaging	Het
Casp12	C	T	9: 5,346,491 (GRCm39)	T6I	probably damaging	Het
Col7a1	T	C	9: 108,792,075 (GRCm39)	V1262A	unknown	Het
Crh	C	A	3: 19,748,262 (GRCm39)	G127C	probably damaging	Het
D5Ertd579e	A	T	5: 36,770,882 (GRCm39)	L64*	probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddc	T	A	11: 11,830,456 (GRCm39)	I63L	probably benign	Het
Eif3a	C	T	19: 60,750,568 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,819,838 (GRCm39)	N5190K	probably benign	Het
Gm5420	A	G	10: 21,567,512 (GRCm39)		noncoding transcript	Het
Grb14	A	G	2: 64,753,873 (GRCm39)		probably benign	Het
Gsap	A	T	5: 21,475,593 (GRCm39)	I545F	probably damaging	Het
Hectd1	A	T	12: 51,803,899 (GRCm39)		probably null	Het
Helz2	G	A	2: 180,874,371 (GRCm39)	P2041L	probably damaging	Het
Herc1	G	A	9: 66,349,254 (GRCm39)	A2038T	probably benign	Het
Il10	C	A	1: 130,951,922 (GRCm39)	Q152K	probably benign	Het
Klrg1	A	G	6: 122,256,596 (GRCm39)		probably null	Het
Lrig2	T	C	3: 104,401,408 (GRCm39)	T160A	probably benign	Het
Mmd2	A	T	5: 142,560,939 (GRCm39)		probably null	Het
Mmp2	C	T	8: 93,563,540 (GRCm39)	S338F	probably damaging	Het
Nalcn	T	G	14: 123,521,015 (GRCm39)	D1630A	probably benign	Het
Ncoa2	T	C	1: 13,235,207 (GRCm39)	S909G	probably benign	Het
Neb	A	T	2: 52,170,623 (GRCm39)	M1683K	possibly damaging	Het
Nfe2l3	A	G	6: 51,435,350 (GRCm39)	I637V	possibly damaging	Het
Npw	G	A	17: 24,877,242 (GRCm39)	S53F	probably damaging	Het
Nrbf2	A	T	10: 67,111,343 (GRCm39)		probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Nup188	T	A	2: 30,200,097 (GRCm39)		probably benign	Het
Or4k15c	T	C	14: 50,321,440 (GRCm39)	M233V	probably benign	Het
Or5b21	T	A	19: 12,839,151 (GRCm39)	M4K	possibly damaging	Het
Parp4	A	T	14: 56,871,720 (GRCm39)	I1133F	probably damaging	Het
Pcdhb11	T	C	18: 37,555,546 (GRCm39)	V292A	probably benign	Het
Pcnx2	A	G	8: 126,545,406 (GRCm39)		probably null	Het
Phf2	A	G	13: 48,971,206 (GRCm39)	S489P	unknown	Het
Pik3r5	T	A	11: 68,384,403 (GRCm39)	N598K	probably damaging	Het
Pikfyve	A	T	1: 65,261,516 (GRCm39)	E432D	probably damaging	Het
Pkhd1	G	A	1: 20,270,893 (GRCm39)	T3220I	probably damaging	Het
Plxna2	A	G	1: 194,462,902 (GRCm39)	I890V	probably benign	Het
Pomgnt1	T	C	4: 116,015,124 (GRCm39)	V492A	possibly damaging	Het
Prp2	G	T	6: 132,572,947 (GRCm39)		probably null	Het
Rabl6	T	C	2: 25,475,444 (GRCm39)	E543G	possibly damaging	Het
Rgp1	T	A	4: 43,581,605 (GRCm39)		probably null	Het
Rps6kb2	T	C	19: 4,211,106 (GRCm39)	T140A	probably damaging	Het
S100a11	T	C	3: 93,433,429 (GRCm39)	I91T	probably benign	Het
Serpine2	A	G	1: 79,774,569 (GRCm39)	L230P	probably damaging	Het
Sh3tc2	A	G	18: 62,120,737 (GRCm39)	D370G	probably damaging	Het
Sim2	A	C	16: 93,886,801 (GRCm39)	I43L	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc14a2	A	G	18: 78,226,798 (GRCm39)	L419P	probably damaging	Het
Srgap1	C	T	10: 121,628,651 (GRCm39)	E817K	probably damaging	Het
Stag3	A	G	5: 138,296,263 (GRCm39)	E442G	possibly damaging	Het
Sulf1	A	G	1: 12,890,645 (GRCm39)	N361S	probably damaging	Het
Tmco6	A	G	18: 36,870,909 (GRCm39)		probably null	Het
Tmem104	T	A	11: 115,134,373 (GRCm39)	I303N	probably benign	Het
Ttll6	G	T	11: 96,026,352 (GRCm39)	D86Y	probably damaging	Het
Tut4	C	T	4: 108,369,392 (GRCm39)	R651W	probably damaging	Het
Vmn1r120	T	G	7: 20,786,883 (GRCm39)	E276A	possibly damaging	Het
Vmn1r64	A	G	7: 5,886,988 (GRCm39)	M185T	probably benign	Het
Vmn2r85	A	T	10: 130,262,242 (GRCm39)		probably benign	Het
Vwa3a	A	T	7: 120,381,868 (GRCm39)	K568*	probably null	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
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
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'- ACGGCTCTCATTTCTGCGTG -3'
(R):5'- AGACCTGCAGTGGATATGGC -3'

Sequencing Primer
(F):5'- AGGCTGCTGCACGATCCTTAC -3'
(R):5'- ACCTGCAGTGGATATGGCAACTC -3'

Posted On

2014-08-25