Incidental Mutation 'R4110:Pkn1'
ID 366523
Institutional Source Beutler Lab
Gene Symbol Pkn1
Ensembl Gene ENSMUSG00000057672
Gene Name protein kinase N1
Synonyms PAK1, Stk3, Pkn, Prkcl1, F730027O18Rik, PRK1
MMRRC Submission 040988-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4110 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 84393165-84425808 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84417828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 120 (D120E)
Ref Sequence ENSEMBL: ENSMUSP00000115054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005616] [ENSMUST00000132945] [ENSMUST00000144258]
AlphaFold P70268
Predicted Effect probably benign
Transcript: ENSMUST00000005616
AA Change: D108E

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000005616
Gene: ENSMUSG00000057672
AA Change: D108E

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 benign
Transcript: ENSMUST00000132945
AA Change: D120E

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000115054
Gene: ENSMUSG00000057672
AA Change: D120E

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 noncoding transcript
Transcript: ENSMUST00000135356
Predicted Effect probably benign
Transcript: ENSMUST00000144258
AA Change: D113E

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000116235
Gene: ENSMUSG00000057672
AA Change: D113E

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 0.1104 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency 100% (61/61)
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
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Acot10 A T 15: 20,666,612 (GRCm39) L43Q probably damaging Het
Alms1 G A 6: 85,597,870 (GRCm39) V1368I probably benign Het
Als2cl T C 9: 110,713,115 (GRCm39) S2P probably benign Het
AW209491 T C 13: 14,812,158 (GRCm39) V337A probably damaging Het
Bace2 A G 16: 97,237,856 (GRCm39) T436A probably benign Het
BC023105 A G 18: 60,575,356 (GRCm39) noncoding transcript Het
Blvra T C 2: 126,937,075 (GRCm39) V176A probably damaging Het
Casp2 G A 6: 42,244,828 (GRCm39) A76T probably damaging Het
Ccdc88c A G 12: 100,911,332 (GRCm39) L34P probably damaging Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Col6a2 T A 10: 76,442,003 (GRCm39) probably null Het
Cse1l T C 2: 166,783,970 (GRCm39) Y488H probably benign Het
Dip2c G T 13: 9,687,137 (GRCm39) G1254C probably damaging Het
Dnajb12 T A 10: 59,730,136 (GRCm39) S270R possibly damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Dscaml1 G A 9: 45,643,366 (GRCm39) A1262T probably benign Het
Dtwd2 A C 18: 49,831,373 (GRCm39) probably benign Het
Fadd C A 7: 144,134,488 (GRCm39) K132N possibly damaging Het
Fndc3c1 T C X: 105,487,897 (GRCm39) N462S probably benign Het
Fzd3 A G 14: 65,472,616 (GRCm39) V384A probably benign Het
Gm6370 T C 5: 146,430,702 (GRCm39) S296P probably benign Het
Gsdmc T A 15: 63,651,876 (GRCm39) H245L probably benign Het
H13 T C 2: 152,523,029 (GRCm39) I114T probably damaging Het
Hhipl2 A G 1: 183,204,920 (GRCm39) R78G probably benign Het
Hrh3 C A 2: 179,744,643 (GRCm39) R99L possibly damaging Het
Ldc1 A T 4: 130,112,967 (GRCm39) L143Q probably damaging Het
Man2c1 A G 9: 57,044,055 (GRCm39) N330S probably damaging Het
Muc19 T A 15: 91,781,816 (GRCm39) noncoding transcript Het
Myh14 T G 7: 44,277,974 (GRCm39) M1092L probably benign Het
Neb A G 2: 52,038,778 (GRCm39) I2899T probably benign Het
Neb T A 2: 52,134,137 (GRCm39) Q3282L probably damaging Het
Nqo2 A T 13: 34,163,620 (GRCm39) Q93L probably benign Het
Or13a18 T A 7: 140,190,178 (GRCm39) L33Q possibly damaging Het
Or13a18 C A 7: 140,190,177 (GRCm39) L33M probably benign Het
Or4a2 C A 2: 89,248,444 (GRCm39) L104F probably benign Het
Or51i2 T C 7: 103,689,609 (GRCm39) V202A probably damaging Het
Pcsk1 A G 13: 75,244,488 (GRCm39) N122S probably damaging Het
Pdzrn4 A G 15: 92,668,745 (GRCm39) I966V probably benign Het
Phldb1 G A 9: 44,627,128 (GRCm39) T439I possibly damaging Het
Pign A G 1: 105,481,540 (GRCm39) probably benign Het
Ptpru A G 4: 131,546,348 (GRCm39) Y301H probably damaging Het
Raly C T 2: 154,699,378 (GRCm39) Q61* probably null Het
Rpl24 T C 16: 55,791,723 (GRCm39) V148A probably benign Het
S100a16 A G 3: 90,449,379 (GRCm39) N18S probably damaging Het
Sec31b G T 19: 44,512,968 (GRCm39) T507N possibly damaging Het
Sgca T C 11: 94,863,396 (GRCm39) T27A possibly damaging Het
Slc22a12 C A 19: 6,590,658 (GRCm39) R203L probably damaging Het
Ssbp3 C A 4: 106,904,393 (GRCm39) probably benign Het
Sucnr1 C G 3: 59,994,215 (GRCm39) R248G probably damaging Het
Tbr1 C T 2: 61,642,076 (GRCm39) P184L probably benign Het
Thsd7b A T 1: 130,044,356 (GRCm39) D1112V probably benign Het
Tnc A G 4: 63,933,188 (GRCm39) V692A probably damaging Het
Top2a C A 11: 98,913,786 (GRCm39) K18N probably damaging Het
Topbp1 G T 9: 103,187,158 (GRCm39) R121L probably damaging Het
Unc79 T C 12: 103,025,629 (GRCm39) C339R probably damaging Het
Wdfy3 C T 5: 102,047,924 (GRCm39) probably null Het
Zbtb3 G C 19: 8,780,384 (GRCm39) probably benign Het
Zfp715 T A 7: 42,947,304 (GRCm39) K885N possibly damaging 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
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
R7189:Pkn1 UTSW 8 84,419,302 (GRCm39) missense possibly damaging 0.74
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'- GAAAGGTTCTGGAGCACTGTG -3'
(R):5'- TCCAGCTAACCCTGAAGACCTG -3'

Sequencing Primer
(F):5'- GAGCACTGTGGTCTCACCTTG -3'
(R):5'- CTGAAGACCTGCATACCTGG -3'
Posted On 2015-12-28