Incidental Mutation 'R7189:Pkn1'
ID 559498
Institutional Source Beutler Lab
Gene Symbol Pkn1
Ensembl Gene ENSMUSG00000057672
Gene Name protein kinase N1
Synonyms PAK1, Stk3, Pkn, Prkcl1, F730027O18Rik, PRK1
MMRRC Submission 045238-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7189 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 84393165-84425808 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84419302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 100 (H100Q)
Ref Sequence ENSEMBL: ENSMUSP00000116235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005616] [ENSMUST00000132945] [ENSMUST00000144258]
AlphaFold P70268
Predicted Effect possibly damaging
Transcript: ENSMUST00000005616
AA Change: H95Q

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000005616
Gene: ENSMUSG00000057672
AA Change: H95Q

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
Hr1 37 101 6.74e-20 SMART
Hr1 126 194 1.13e-21 SMART
Hr1 216 284 7.79e-25 SMART
C2 328 464 2.45e-1 SMART
low complexity region 569 601 N/A INTRINSIC
S_TKc 619 878 2.83e-96 SMART
S_TK_X 879 943 5.29e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000132945
AA Change: H107Q

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115054
Gene: ENSMUSG00000057672
AA Change: H107Q

DomainStartEndE-ValueType
low complexity region 27 42 N/A INTRINSIC
Hr1 49 113 6.74e-20 SMART
Hr1 138 206 1.13e-21 SMART
Hr1 228 296 7.79e-25 SMART
C2 340 476 2.45e-1 SMART
low complexity region 581 613 N/A INTRINSIC
Pfam:Pkinase 631 756 2.2e-23 PFAM
Pfam:Pkinase_Tyr 631 757 1.5e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000144258
AA Change: H100Q

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000116235
Gene: ENSMUSG00000057672
AA Change: H100Q

DomainStartEndE-ValueType
low complexity region 20 35 N/A INTRINSIC
Hr1 42 106 6.74e-20 SMART
Hr1 131 199 1.13e-21 SMART
Hr1 221 289 7.79e-25 SMART
C2 333 469 2.45e-1 SMART
low complexity region 574 606 N/A INTRINSIC
S_TKc 624 883 2.83e-96 SMART
S_TK_X 884 948 5.29e-18 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 95% (57/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin signals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during apoptosis suggests its role in signal transduction related to apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spontaneously formed GCs and developed an autoimmune-like disease with autoantibody production and glomerulonephritis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 G T 2: 103,397,861 (GRCm39) A264S probably benign Het
Atosa T C 9: 74,911,633 (GRCm39) C42R probably damaging Het
Atr G T 9: 95,744,844 (GRCm39) E54* probably null Het
Bmp4 A G 14: 46,621,456 (GRCm39) S363P probably damaging Het
Cfap54 C A 10: 92,773,590 (GRCm39) A2077S unknown Het
Chrna7 T C 7: 62,755,775 (GRCm39) D257G probably damaging Het
Chrnd C T 1: 87,118,780 (GRCm39) R46W probably damaging Het
Cntn2 A G 1: 132,444,824 (GRCm39) I851T probably damaging Het
Col3a1 T A 1: 45,372,817 (GRCm39) I534K unknown Het
Cyp3a25 A T 5: 145,939,870 (GRCm39) L46I probably benign Het
Dnah7b G C 1: 46,281,302 (GRCm39) G2788R probably damaging Het
Dnpep T C 1: 75,290,074 (GRCm39) E301G probably damaging Het
Efcab3 T C 11: 104,986,690 (GRCm39) S30P probably benign Het
Elk4 A G 1: 131,947,127 (GRCm39) I373V probably damaging Het
Fam161b T C 12: 84,395,420 (GRCm39) S508G probably damaging Het
Fgf10 A G 13: 118,925,659 (GRCm39) E146G probably benign Het
Fsip2 A G 2: 82,823,581 (GRCm39) D6438G possibly damaging Het
Garin2 C T 12: 78,758,982 (GRCm39) P101S probably benign Het
Gask1b T A 3: 79,794,114 (GRCm39) L194* probably null Het
Gm49355 T A 14: 12,296,672 (GRCm38) C10* probably null Het
Hfm1 A G 5: 107,049,569 (GRCm39) probably null Het
Hivep3 T C 4: 119,989,416 (GRCm39) S1956P probably damaging Het
Hrh2 A G 13: 54,375,270 (GRCm39) S369G unknown Het
Hspg2 T C 4: 137,260,872 (GRCm39) probably null Het
Hsph1 T C 5: 149,553,925 (GRCm39) Y181C probably damaging Het
Kcnh8 A G 17: 53,201,145 (GRCm39) probably null Het
Kctd1 C T 18: 15,195,700 (GRCm39) E308K possibly damaging Het
Kdm8 A T 7: 125,060,103 (GRCm39) Y335F probably damaging Het
Kif2b C G 11: 91,467,963 (GRCm39) G107R probably benign Het
Lama4 G A 10: 38,841,729 (GRCm39) probably benign Het
Lepr T C 4: 101,671,961 (GRCm39) V995A probably benign Het
Mfsd4a A T 1: 131,980,131 (GRCm39) V375E probably damaging Het
Mgl2 G T 11: 70,027,869 (GRCm39) W359L probably damaging Het
Muc5b C A 7: 141,414,798 (GRCm39) Y2581* probably null Het
Nol10 G T 12: 17,423,562 (GRCm39) probably null Het
Or4k47 T A 2: 111,451,538 (GRCm39) M294L probably benign Het
Or52n3 A T 7: 104,530,348 (GRCm39) K145* probably null Het
Otud3 C T 4: 138,636,865 (GRCm39) V99M probably damaging Het
Parvb T C 15: 84,187,672 (GRCm39) probably null Het
Pclo C A 5: 14,571,932 (GRCm39) P439Q possibly damaging Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm39) probably benign Het
Plce1 A T 19: 38,748,581 (GRCm39) I1771F probably damaging Het
Plxna2 G T 1: 194,483,366 (GRCm39) R1559L possibly damaging Het
Ppp2r3d T A 9: 101,003,621 (GRCm39) I416L possibly damaging Het
Pramel42 T A 5: 94,685,610 (GRCm39) Y423* probably null Het
Robo1 C A 16: 72,757,039 (GRCm39) C333* probably null Het
Ryr2 A T 13: 11,898,009 (GRCm39) Y129N probably damaging Het
Schip1 A T 3: 68,525,032 (GRCm39) K359M probably damaging Het
Schip1 G T 3: 68,525,033 (GRCm39) K359N probably damaging Het
Sh2d2a T A 3: 87,755,668 (GRCm39) S65T possibly damaging Het
Ssrp1 G A 2: 84,875,906 (GRCm39) M588I probably benign Het
Stim2 T A 5: 54,273,470 (GRCm39) C567S probably benign Het
Syne1 C A 10: 5,374,295 (GRCm39) A171S probably benign Het
Tigd3 A G 19: 5,943,050 (GRCm39) S27P probably benign Het
Vipr1 C A 9: 121,493,620 (GRCm39) Q224K probably damaging Het
Vmn1r75 T A 7: 11,614,475 (GRCm39) M69K possibly damaging Het
Vmn2r72 T G 7: 85,404,125 (GRCm39) D22A probably benign Het
Zbtb24 G A 10: 41,340,472 (GRCm39) V523I probably benign Het
Zbtb43 A G 2: 33,352,307 (GRCm39) F20S probably benign Het
Other mutations in Pkn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Pkn1 APN 8 84,407,635 (GRCm39) missense probably damaging 0.96
IGL02058:Pkn1 APN 8 84,407,854 (GRCm39) nonsense probably null
IGL03142:Pkn1 APN 8 84,397,652 (GRCm39) missense possibly damaging 0.85
Xinjiang UTSW 8 84,419,556 (GRCm39) nonsense probably null
R0115:Pkn1 UTSW 8 84,397,658 (GRCm39) missense probably damaging 0.99
R0157:Pkn1 UTSW 8 84,419,449 (GRCm39) missense probably damaging 1.00
R0304:Pkn1 UTSW 8 84,410,236 (GRCm39) splice site probably benign
R0450:Pkn1 UTSW 8 84,398,953 (GRCm39) missense probably damaging 1.00
R0469:Pkn1 UTSW 8 84,398,953 (GRCm39) missense probably damaging 1.00
R1419:Pkn1 UTSW 8 84,400,151 (GRCm39) missense probably damaging 0.99
R1539:Pkn1 UTSW 8 84,396,966 (GRCm39) missense possibly damaging 0.49
R2025:Pkn1 UTSW 8 84,398,007 (GRCm39) missense probably damaging 1.00
R2026:Pkn1 UTSW 8 84,398,007 (GRCm39) missense probably damaging 1.00
R2027:Pkn1 UTSW 8 84,398,007 (GRCm39) missense probably damaging 1.00
R2029:Pkn1 UTSW 8 84,404,592 (GRCm39) missense possibly damaging 0.92
R2886:Pkn1 UTSW 8 84,407,867 (GRCm39) missense probably benign 0.28
R3017:Pkn1 UTSW 8 84,396,799 (GRCm39) missense probably benign 0.13
R3402:Pkn1 UTSW 8 84,396,859 (GRCm39) missense probably damaging 1.00
R4110:Pkn1 UTSW 8 84,417,828 (GRCm39) missense probably benign 0.41
R4504:Pkn1 UTSW 8 84,419,556 (GRCm39) nonsense probably null
R4739:Pkn1 UTSW 8 84,398,378 (GRCm39) missense probably damaging 0.98
R4838:Pkn1 UTSW 8 84,404,595 (GRCm39) missense probably damaging 1.00
R4857:Pkn1 UTSW 8 84,410,856 (GRCm39) splice site probably null
R5239:Pkn1 UTSW 8 84,410,811 (GRCm39) missense probably damaging 1.00
R5558:Pkn1 UTSW 8 84,411,351 (GRCm39) missense probably damaging 1.00
R5613:Pkn1 UTSW 8 84,404,390 (GRCm39) missense probably benign 0.00
R6169:Pkn1 UTSW 8 84,407,835 (GRCm39) nonsense probably null
R6172:Pkn1 UTSW 8 84,397,384 (GRCm39) missense possibly damaging 0.48
R6273:Pkn1 UTSW 8 84,398,899 (GRCm39) missense probably damaging 0.96
R6318:Pkn1 UTSW 8 84,410,220 (GRCm39) missense probably damaging 1.00
R6531:Pkn1 UTSW 8 84,396,922 (GRCm39) missense probably benign 0.09
R6969:Pkn1 UTSW 8 84,410,055 (GRCm39) missense probably damaging 1.00
R7142:Pkn1 UTSW 8 84,420,596 (GRCm39) missense possibly damaging 0.50
R7157:Pkn1 UTSW 8 84,398,363 (GRCm39) missense probably damaging 1.00
R7981:Pkn1 UTSW 8 84,407,637 (GRCm39) missense probably damaging 0.99
R8876:Pkn1 UTSW 8 84,398,879 (GRCm39) missense possibly damaging 0.94
R8953:Pkn1 UTSW 8 84,410,815 (GRCm39) missense probably damaging 1.00
R9048:Pkn1 UTSW 8 84,424,663 (GRCm39) missense possibly damaging 0.91
R9374:Pkn1 UTSW 8 84,404,367 (GRCm39) missense probably benign 0.00
R9495:Pkn1 UTSW 8 84,410,799 (GRCm39) missense possibly damaging 0.95
R9549:Pkn1 UTSW 8 84,419,474 (GRCm39) missense probably damaging 1.00
Z1176:Pkn1 UTSW 8 84,400,126 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCTGGATGCTGGTGAGTCTATATC -3'
(R):5'- CAACAGCTGGAGTTAGAGCG -3'

Sequencing Primer
(F):5'- TCTAGGTACTCCTAATGCCAAAG -3'
(R):5'- CGAGAGCGACTGAAGCG -3'
Posted On 2019-06-26