Incidental Mutation 'R9697:Pink1'
ID 729352
Institutional Source Beutler Lab
Gene Symbol Pink1
Ensembl Gene ENSMUSG00000028756
Gene Name PTEN induced putative kinase 1
Synonyms brpk, 1190006F07Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9697 (G1)
Quality Score 197.009
Status Not validated
Chromosome 4
Chromosomal Location 138040720-138053618 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138041323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 563 (C563R)
Ref Sequence ENSEMBL: ENSMUSP00000030536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030536] [ENSMUST00000030538] [ENSMUST00000105816] [ENSMUST00000105817]
AlphaFold Q99MQ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000030536
AA Change: C563R

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030536
Gene: ENSMUSG00000028756
AA Change: C563R

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:DDOST_48kD 32 441 4.5e-155 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105816
AA Change: C151R

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101442
Gene: ENSMUSG00000028756
AA Change: C151R

DomainStartEndE-ValueType
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: C533R

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101443
Gene: ENSMUSG00000028756
AA Change: C533R

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.0%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik C T 17: 15,163,769 (GRCm39) probably benign Het
9330182O14Rik C T 15: 40,005,500 (GRCm39) probably benign Het
Adamts19 C A 18: 59,101,834 (GRCm39) P635T probably damaging Het
Adgrf1 T C 17: 43,625,362 (GRCm39) W857R possibly damaging Het
Ak9 T G 10: 41,298,968 (GRCm39) Y1556* probably null Het
Ang2 T C 14: 51,433,326 (GRCm39) I19V probably benign Het
Ano3 T A 2: 110,496,253 (GRCm39) T834S probably damaging Het
As3mt A T 19: 46,708,420 (GRCm39) I236F probably benign Het
Asns A T 6: 7,689,268 (GRCm39) I78N probably damaging Het
Bet1 G A 6: 4,082,471 (GRCm39) T44M probably damaging Het
Cabyr T C 18: 12,884,407 (GRCm39) V298A possibly damaging Het
Cacna1c A G 6: 118,589,598 (GRCm39) V1601A Het
Ccni A T 5: 93,350,201 (GRCm39) M26K probably damaging Het
Cdhr2 T C 13: 54,867,679 (GRCm39) I503T probably damaging Het
Cfap54 T C 10: 92,792,851 (GRCm39) K1754R unknown Het
Cfap69 A G 5: 5,676,041 (GRCm39) V218A possibly damaging Het
Clcn3 A G 8: 61,372,518 (GRCm39) L741P probably damaging Het
Cntnap1 T C 11: 101,068,828 (GRCm39) F124L possibly damaging Het
Col20a1 G A 2: 180,641,577 (GRCm39) G673D probably benign Het
Col4a2 A G 8: 11,487,628 (GRCm39) I977V probably benign Het
Cyp3a59 A T 5: 146,031,190 (GRCm39) I118F probably damaging Het
Dgcr8 A T 16: 18,098,283 (GRCm39) D369E probably benign Het
Dhtkd1 T C 2: 5,919,651 (GRCm39) T577A probably benign Het
Dock2 A T 11: 34,204,417 (GRCm39) M1375K probably benign Het
Fa2h G A 8: 112,074,659 (GRCm39) H315Y probably damaging Het
Foxd2 G A 4: 114,765,684 (GRCm39) P112L unknown Het
Gin1 A G 1: 97,712,897 (GRCm39) I317V probably benign Het
Gpr180 G A 14: 118,391,302 (GRCm39) G235R probably damaging Het
H2-T3 T A 17: 36,500,744 (GRCm39) Y33F probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Il12rb1 G A 8: 71,263,874 (GRCm39) W145* probably null Het
Il6ra A G 3: 89,785,219 (GRCm39) V330A probably benign Het
Impdh2 T C 9: 108,438,847 (GRCm39) S67P possibly damaging Het
Ltbp3 T A 19: 5,792,521 (GRCm39) S85T probably benign Het
Magi3 A G 3: 103,956,458 (GRCm39) probably null Het
Mettl4 T A 17: 95,034,806 (GRCm39) I430F probably damaging Het
Mmd T A 11: 90,167,579 (GRCm39) F203I probably damaging Het
Nlgn1 T C 3: 25,494,035 (GRCm39) T305A possibly damaging Het
Ntn1 A G 11: 68,168,356 (GRCm39) V367A probably damaging Het
Or2w1b A T 13: 21,299,892 (GRCm39) H10L probably benign Het
Or5b107 G A 19: 13,142,888 (GRCm39) C170Y possibly damaging Het
Pcdh12 T C 18: 38,415,022 (GRCm39) H701R possibly damaging Het
Pcgf3 G A 5: 108,621,773 (GRCm39) probably null Het
Pik3c2g G A 6: 139,913,517 (GRCm39) V972M unknown Het
Prol1 A T 5: 88,466,426 (GRCm39) N3I probably benign Het
Ptpro T G 6: 137,363,288 (GRCm39) I474S probably damaging Het
Rabgef1 A G 5: 130,241,781 (GRCm39) E395G probably benign Het
Rpgrip1l G T 8: 91,987,391 (GRCm39) H889N possibly damaging Het
Sapcd2 T A 2: 25,262,925 (GRCm39) C161* probably null Het
Sbsn GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA 7: 30,452,391 (GRCm39) probably benign Het
Spen A G 4: 141,196,275 (GRCm39) L3625P probably damaging Het
Stil T C 4: 114,878,701 (GRCm39) I379T probably benign Het
Stim1 A G 7: 102,078,014 (GRCm39) D172G Het
Timm50 A G 7: 28,010,350 (GRCm39) L68P probably damaging Het
Tlr9 C T 9: 106,100,723 (GRCm39) R5* probably null Het
Top1mt A T 15: 75,547,874 (GRCm39) Y71N probably damaging Het
Trpv4 A G 5: 114,771,285 (GRCm39) Y415H possibly damaging Het
Try10 C T 6: 41,331,041 (GRCm39) probably benign Het
Uhrf2 A G 19: 30,063,780 (GRCm39) E581G probably damaging Het
Usp17lb G A 7: 104,490,495 (GRCm39) T144I possibly damaging Het
Vmn1r64 T C 7: 5,886,859 (GRCm39) N228S probably benign Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Other mutations in Pink1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TCCCATTTGCTGAGCCCAAG -3'
(R):5'- TGCACGCTTAGCTGCAAATG -3'

Sequencing Primer
(F):5'- GACCAGCCCCTCCCTCTAC -3'
(R):5'- AAATGTGCTGCACTTAAGCCTCTG -3'
Posted On 2022-10-06