Incidental Mutation 'IGL02689:Pkn3'
ID303664
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pkn3
Ensembl Gene ENSMUSG00000026785
Gene Nameprotein kinase N3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02689
Quality Score
Status
Chromosome2
Chromosomal Location30077684-30091022 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 30080846 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 202 (G202D)
Ref Sequence ENSEMBL: ENSMUSP00000120268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045246] [ENSMUST00000125346] [ENSMUST00000150770]
Predicted Effect probably damaging
Transcript: ENSMUST00000045246
AA Change: G198D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: G198D

DomainStartEndE-ValueType
Hr1 15 78 3.45e-17 SMART
Hr1 98 166 6.19e-19 SMART
Hr1 171 239 3.32e-19 SMART
low complexity region 528 537 N/A INTRINSIC
S_TKc 548 807 2.52e-93 SMART
S_TK_X 808 872 9.58e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125346
AA Change: G202D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120268
Gene: ENSMUSG00000026785
AA Change: G202D

DomainStartEndE-ValueType
Hr1 19 82 3.45e-17 SMART
Hr1 102 170 6.19e-19 SMART
Hr1 175 238 6.4e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148650
Predicted Effect probably benign
Transcript: ENSMUST00000150770
SMART Domains Protein: ENSMUSP00000114492
Gene: ENSMUSG00000026785

DomainStartEndE-ValueType
Hr1 28 91 3.45e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156197
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation are viable, fertile and healthy. Mice with conditional loss of this gene and Pten in hematopoietic cells show a delay in leukemia development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer2 G T 4: 86,917,455 A235S probably benign Het
Add2 A G 6: 86,107,406 I479V possibly damaging Het
Anapc11 T A 11: 120,599,342 M28K probably benign Het
Anapc15-ps T C 10: 95,673,131 S87G probably benign Het
Atraid T C 5: 31,052,482 L46P probably damaging Het
Ccdc80 T A 16: 45,096,409 Y509* probably null Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cecr2 T A 6: 120,762,167 L1257Q probably damaging Het
Csn1s2b A G 5: 87,809,921 I5V probably benign Het
Dhps T C 8: 85,073,750 Y221H possibly damaging Het
Dmxl1 T C 18: 49,864,895 S717P probably damaging Het
Dppa5a G T 9: 78,367,831 S63Y probably damaging Het
Eif3l A T 15: 79,086,519 D331V possibly damaging Het
Folh1 G T 7: 86,763,045 probably null Het
Gbp9 G T 5: 105,105,796 Q18K probably benign Het
Grm5 A G 7: 87,602,710 K56R probably damaging Het
H2-M3 T A 17: 37,270,541 Y31* probably null Het
Herc2 T C 7: 56,165,283 probably benign Het
Itga7 G T 10: 128,946,818 A675S possibly damaging Het
Lipo5 G A 19: 33,467,786 H128Y unknown Het
Olfr1344 T C 7: 6,440,575 L225P possibly damaging Het
Olfr1480 A G 19: 13,529,807 I89V probably benign Het
Pdk4 C T 6: 5,487,408 V281I probably benign Het
Rcbtb1 A G 14: 59,224,700 N260S probably damaging Het
Sipa1l1 T C 12: 82,440,820 F1623L probably benign Het
Slfn8 A G 11: 83,017,108 F203S probably damaging Het
St6gal2 T C 17: 55,482,595 L210S probably damaging Het
Taf5 T C 19: 47,077,265 probably benign Het
Taok2 A G 7: 126,876,098 F226S probably damaging Het
Timm10b A G 7: 105,640,632 probably benign Het
Tmx3 A G 18: 90,537,116 N319S possibly damaging Het
Trmt1 G T 8: 84,699,756 probably benign Het
Other mutations in Pkn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Pkn3 APN 2 30081104 missense probably damaging 0.97
IGL00781:Pkn3 APN 2 30083390 unclassified probably benign
IGL00815:Pkn3 APN 2 30081200 missense possibly damaging 0.88
IGL01576:Pkn3 APN 2 30087042 missense probably damaging 1.00
IGL01897:Pkn3 APN 2 30082812 unclassified probably benign
IGL02513:Pkn3 APN 2 30083137 missense probably damaging 0.98
IGL02552:Pkn3 APN 2 30080867 missense probably damaging 1.00
IGL02622:Pkn3 APN 2 30083146 missense probably benign 0.28
IGL02996:Pkn3 APN 2 30080615 missense probably benign 0.39
IGL03106:Pkn3 APN 2 30085245 missense probably damaging 0.96
Enflamme UTSW 2 30083037 unclassified probably benign
Wrath UTSW 2 30088584 critical splice donor site probably null
PIT4151001:Pkn3 UTSW 2 30090527 missense probably damaging 1.00
R0279:Pkn3 UTSW 2 30083297 missense probably benign 0.16
R0370:Pkn3 UTSW 2 30087172 missense probably damaging 1.00
R0491:Pkn3 UTSW 2 30089877 missense probably damaging 1.00
R0600:Pkn3 UTSW 2 30081134 missense probably benign 0.06
R1418:Pkn3 UTSW 2 30083047 missense probably damaging 1.00
R1510:Pkn3 UTSW 2 30079764 critical splice donor site probably null
R1535:Pkn3 UTSW 2 30087053 missense probably benign
R1540:Pkn3 UTSW 2 30084691 missense probably damaging 1.00
R1808:Pkn3 UTSW 2 30079651 missense probably damaging 1.00
R1884:Pkn3 UTSW 2 30082828 missense probably damaging 1.00
R1995:Pkn3 UTSW 2 30089977 missense probably damaging 1.00
R3745:Pkn3 UTSW 2 30090341 missense probably damaging 1.00
R4119:Pkn3 UTSW 2 30083037 unclassified probably benign
R4258:Pkn3 UTSW 2 30088560 missense probably damaging 0.99
R4665:Pkn3 UTSW 2 30085457 unclassified probably benign
R4772:Pkn3 UTSW 2 30084680 splice site probably null
R4808:Pkn3 UTSW 2 30090081 missense probably damaging 1.00
R5038:Pkn3 UTSW 2 30085281 critical splice donor site probably null
R5388:Pkn3 UTSW 2 30081074 missense probably damaging 0.99
R5488:Pkn3 UTSW 2 30088584 critical splice donor site probably null
R5611:Pkn3 UTSW 2 30079661 missense probably damaging 1.00
R6001:Pkn3 UTSW 2 30088584 critical splice donor site probably null
R6277:Pkn3 UTSW 2 30082945 missense possibly damaging 0.93
R6562:Pkn3 UTSW 2 30080687 critical splice donor site probably null
R6724:Pkn3 UTSW 2 30090550 missense possibly damaging 0.94
R7061:Pkn3 UTSW 2 30083536 intron probably null
R7128:Pkn3 UTSW 2 30083315 missense probably damaging 1.00
R7249:Pkn3 UTSW 2 30084761 missense probably benign 0.00
R7475:Pkn3 UTSW 2 30087110 missense probably benign 0.01
R7746:Pkn3 UTSW 2 30090584 missense probably benign 0.00
R7747:Pkn3 UTSW 2 30090584 missense probably benign 0.00
R7783:Pkn3 UTSW 2 30079622 missense probably damaging 1.00
Posted On2015-04-16