Incidental Mutation 'R3940:Pkn2'
ID 307403
Institutional Source Beutler Lab
Gene Symbol Pkn2
Ensembl Gene ENSMUSG00000004591
Gene Name protein kinase N2
Synonyms Stk7, PRK2, Prkcl2, 6030436C20Rik
MMRRC Submission 040922-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3940 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 142496663-142587765 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 142499672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 951 (S951L)
Ref Sequence ENSEMBL: ENSMUSP00000039566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043812] [ENSMUST00000173830] [ENSMUST00000173913] [ENSMUST00000174422]
AlphaFold Q8BWW9
Predicted Effect probably damaging
Transcript: ENSMUST00000043812
AA Change: S951L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039566
Gene: ENSMUSG00000004591
AA Change: S951L

DomainStartEndE-ValueType
Hr1 47 110 3.61e-20 SMART
Hr1 136 204 6.1e-18 SMART
Hr1 217 285 6.05e-22 SMART
C2 329 462 2.72e-8 SMART
low complexity region 535 546 N/A INTRINSIC
low complexity region 570 578 N/A INTRINSIC
S_TKc 656 915 7.94e-100 SMART
S_TK_X 916 980 6.77e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157170
Predicted Effect probably damaging
Transcript: ENSMUST00000173830
AA Change: S903L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133691
Gene: ENSMUSG00000004591
AA Change: S903L

DomainStartEndE-ValueType
Hr1 47 110 3.61e-20 SMART
Hr1 136 204 6.1e-18 SMART
Hr1 217 285 6.05e-22 SMART
low complexity region 364 380 N/A INTRINSIC
low complexity region 487 498 N/A INTRINSIC
low complexity region 522 530 N/A INTRINSIC
S_TKc 608 867 7.94e-100 SMART
S_TK_X 868 932 6.77e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173913
Predicted Effect possibly damaging
Transcript: ENSMUST00000174422
AA Change: S935L

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134559
Gene: ENSMUSG00000004591
AA Change: S935L

DomainStartEndE-ValueType
Hr1 47 110 3.61e-20 SMART
Hr1 136 204 6.1e-18 SMART
Hr1 217 285 6.05e-22 SMART
C2 329 446 2.92e-8 SMART
low complexity region 519 530 N/A INTRINSIC
low complexity region 554 562 N/A INTRINSIC
S_TKc 640 899 7.94e-100 SMART
S_TK_X 900 964 6.77e-16 SMART
Meta Mutation Damage Score 0.1364 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 95% (35/37)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele display embryonic lethality during organogenesis with impaired mesenchymal cell proliferation and neural crest cell migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Acsm3 A G 7: 119,373,109 (GRCm39) E204G probably benign Het
Acta2 A T 19: 34,220,880 (GRCm39) I276N possibly damaging Het
Ankrd16 T C 2: 11,789,192 (GRCm39) C260R probably benign Het
Ankrd42 T C 7: 92,240,996 (GRCm39) probably null Het
Atp13a2 T C 4: 140,733,733 (GRCm39) S1041P probably damaging Het
Brinp3 C A 1: 146,627,599 (GRCm39) D277E probably damaging Het
Calm5 A T 13: 3,904,485 (GRCm39) I37F possibly damaging Het
Casq1 A G 1: 172,047,103 (GRCm39) V52A possibly damaging Het
Col22a1 A T 15: 71,853,782 (GRCm39) L260* probably null Het
Cttnbp2 C A 6: 18,420,974 (GRCm39) V846L probably benign Het
Dnah12 A G 14: 26,444,754 (GRCm39) T627A probably benign Het
Eogt T C 6: 97,090,875 (GRCm39) I421M probably damaging Het
Fam135a T A 1: 24,096,556 (GRCm39) H63L probably damaging Het
Fmo3 T A 1: 162,791,555 (GRCm39) T241S probably benign Het
Frem3 T C 8: 81,341,649 (GRCm39) I1314T possibly damaging Het
Gm14393 T C 2: 174,903,420 (GRCm39) probably null Het
Kcna5 C T 6: 126,510,614 (GRCm39) V505I probably damaging Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Neto2 G A 8: 86,400,747 (GRCm39) T16I probably damaging Het
Or7a41 T A 10: 78,871,038 (GRCm39) I136N probably damaging Het
Or8k40 T A 2: 86,584,275 (GRCm39) D269V possibly damaging Het
Pcdhb7 T C 18: 37,477,021 (GRCm39) L719P probably damaging Het
Pcdhga9 G A 18: 37,871,995 (GRCm39) R608H probably benign Het
Pik3ip1 A G 11: 3,281,987 (GRCm39) N48S probably damaging Het
Prrc2a T C 17: 35,376,474 (GRCm39) H772R possibly damaging Het
Ric1 T C 19: 29,548,162 (GRCm39) Y277H probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf123 A T 9: 107,941,234 (GRCm39) probably benign Het
Robo1 T C 16: 72,806,631 (GRCm39) S1166P probably benign Het
S100a10 A G 3: 93,468,383 (GRCm39) E38G probably benign Het
Slc34a1 A T 13: 55,560,983 (GRCm39) I483F probably damaging Het
Stim1 A G 7: 102,084,848 (GRCm39) N600S probably benign Het
Ube3c T A 5: 29,824,358 (GRCm39) N517K probably benign Het
Other mutations in Pkn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Pkn2 APN 3 142,504,780 (GRCm39) missense probably damaging 1.00
IGL00852:Pkn2 APN 3 142,515,577 (GRCm39) unclassified probably benign
IGL00917:Pkn2 APN 3 142,559,386 (GRCm39) missense probably damaging 1.00
IGL01147:Pkn2 APN 3 142,534,770 (GRCm39) missense probably benign 0.06
IGL01556:Pkn2 APN 3 142,535,078 (GRCm39) missense possibly damaging 0.88
IGL01574:Pkn2 APN 3 142,544,992 (GRCm39) missense possibly damaging 0.48
IGL02058:Pkn2 APN 3 142,509,424 (GRCm39) missense probably damaging 0.97
IGL02136:Pkn2 APN 3 142,559,351 (GRCm39) missense probably damaging 1.00
IGL02310:Pkn2 APN 3 142,517,341 (GRCm39) missense probably damaging 1.00
IGL02540:Pkn2 APN 3 142,515,465 (GRCm39) missense probably benign 0.01
IGL02607:Pkn2 APN 3 142,499,862 (GRCm39) critical splice donor site probably null
IGL03256:Pkn2 APN 3 142,509,311 (GRCm39) splice site probably null
voodoo UTSW 3 142,559,299 (GRCm39) missense possibly damaging 0.78
R0001:Pkn2 UTSW 3 142,534,749 (GRCm39) missense probably benign 0.00
R0048:Pkn2 UTSW 3 142,516,588 (GRCm39) missense probably damaging 1.00
R0081:Pkn2 UTSW 3 142,559,343 (GRCm39) missense probably damaging 1.00
R0514:Pkn2 UTSW 3 142,516,219 (GRCm39) missense possibly damaging 0.76
R0670:Pkn2 UTSW 3 142,545,104 (GRCm39) missense probably damaging 0.99
R0709:Pkn2 UTSW 3 142,536,281 (GRCm39) missense probably damaging 0.98
R1025:Pkn2 UTSW 3 142,527,326 (GRCm39) critical splice donor site probably null
R1190:Pkn2 UTSW 3 142,517,286 (GRCm39) critical splice donor site probably null
R1602:Pkn2 UTSW 3 142,559,299 (GRCm39) missense possibly damaging 0.78
R1729:Pkn2 UTSW 3 142,516,462 (GRCm39) missense probably benign 0.00
R1756:Pkn2 UTSW 3 142,516,488 (GRCm39) missense possibly damaging 0.94
R1764:Pkn2 UTSW 3 142,499,615 (GRCm39) missense probably damaging 1.00
R1797:Pkn2 UTSW 3 142,515,289 (GRCm39) missense probably damaging 1.00
R1833:Pkn2 UTSW 3 142,527,408 (GRCm39) missense probably damaging 1.00
R2035:Pkn2 UTSW 3 142,526,348 (GRCm39) missense probably damaging 0.99
R2058:Pkn2 UTSW 3 142,559,232 (GRCm39) missense possibly damaging 0.93
R3779:Pkn2 UTSW 3 142,499,741 (GRCm39) missense possibly damaging 0.89
R3967:Pkn2 UTSW 3 142,515,438 (GRCm39) missense probably damaging 0.98
R4008:Pkn2 UTSW 3 142,516,219 (GRCm39) missense possibly damaging 0.76
R4160:Pkn2 UTSW 3 142,509,325 (GRCm39) missense probably benign 0.42
R4222:Pkn2 UTSW 3 142,499,627 (GRCm39) nonsense probably null
R4243:Pkn2 UTSW 3 142,526,339 (GRCm39) missense possibly damaging 0.64
R4380:Pkn2 UTSW 3 142,536,217 (GRCm39) unclassified probably benign
R4826:Pkn2 UTSW 3 142,515,270 (GRCm39) missense probably damaging 1.00
R4869:Pkn2 UTSW 3 142,509,379 (GRCm39) missense probably damaging 1.00
R5096:Pkn2 UTSW 3 142,545,092 (GRCm39) missense probably damaging 0.99
R5175:Pkn2 UTSW 3 142,504,684 (GRCm39) missense probably damaging 1.00
R5301:Pkn2 UTSW 3 142,544,967 (GRCm39) critical splice donor site probably null
R5839:Pkn2 UTSW 3 142,527,290 (GRCm39) missense probably benign 0.02
R6155:Pkn2 UTSW 3 142,559,454 (GRCm39) missense probably benign 0.00
R6198:Pkn2 UTSW 3 142,516,165 (GRCm39) missense probably benign 0.00
R6255:Pkn2 UTSW 3 142,517,360 (GRCm39) missense probably damaging 1.00
R6293:Pkn2 UTSW 3 142,515,465 (GRCm39) missense probably benign 0.15
R6494:Pkn2 UTSW 3 142,509,429 (GRCm39) missense possibly damaging 0.94
R6659:Pkn2 UTSW 3 142,509,348 (GRCm39) missense probably damaging 1.00
R6809:Pkn2 UTSW 3 142,504,765 (GRCm39) missense probably damaging 1.00
R7267:Pkn2 UTSW 3 142,517,776 (GRCm39) missense possibly damaging 0.90
R7367:Pkn2 UTSW 3 142,516,488 (GRCm39) missense probably benign 0.00
R7746:Pkn2 UTSW 3 142,499,868 (GRCm39) missense probably damaging 1.00
R7940:Pkn2 UTSW 3 142,516,480 (GRCm39) missense probably benign 0.00
R8324:Pkn2 UTSW 3 142,534,771 (GRCm39) missense probably benign 0.15
R8847:Pkn2 UTSW 3 142,526,401 (GRCm39) missense probably benign 0.29
R8947:Pkn2 UTSW 3 142,517,674 (GRCm39) critical splice donor site probably null
R9096:Pkn2 UTSW 3 142,515,249 (GRCm39) missense probably benign 0.03
R9097:Pkn2 UTSW 3 142,515,249 (GRCm39) missense probably benign 0.03
R9130:Pkn2 UTSW 3 142,515,245 (GRCm39) missense possibly damaging 0.51
R9226:Pkn2 UTSW 3 142,499,709 (GRCm39) missense probably damaging 1.00
R9267:Pkn2 UTSW 3 142,517,676 (GRCm39) missense probably null 0.97
R9277:Pkn2 UTSW 3 142,516,509 (GRCm39) missense probably benign 0.01
R9308:Pkn2 UTSW 3 142,517,724 (GRCm39) missense probably benign 0.21
R9372:Pkn2 UTSW 3 142,535,018 (GRCm39) missense probably damaging 0.99
R9551:Pkn2 UTSW 3 142,499,594 (GRCm39) missense probably damaging 1.00
R9552:Pkn2 UTSW 3 142,499,594 (GRCm39) missense probably damaging 1.00
R9782:Pkn2 UTSW 3 142,516,237 (GRCm39) missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- ATCTCAGAAGCTCCTGGTGG -3'
(R):5'- AGGATGTCAAGAAGCACCC -3'

Sequencing Primer
(F):5'- TCCTGGTGGCACGGAAAG -3'
(R):5'- GGATGTCAAGAAGCACCCGTTTTTC -3'
Posted On 2015-04-17