Incidental Mutation 'R0081:Pkn2'
ID 19665
Institutional Source Beutler Lab
Gene Symbol Pkn2
Ensembl Gene ENSMUSG00000004591
Gene Name protein kinase N2
Synonyms Stk7, PRK2, Prkcl2, 6030436C20Rik
MMRRC Submission 038368-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0081 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 142496663-142587765 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 142559343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 61 (K61Q)
Ref Sequence ENSEMBL: ENSMUSP00000134559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043812] [ENSMUST00000173830] [ENSMUST00000173913] [ENSMUST00000174422]
AlphaFold Q8BWW9
Predicted Effect probably damaging
Transcript: ENSMUST00000043812
AA Change: K61Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039566
Gene: ENSMUSG00000004591
AA Change: K61Q

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: ENSMUST00000166330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172916
Predicted Effect probably damaging
Transcript: ENSMUST00000173830
AA Change: K61Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133691
Gene: ENSMUSG00000004591
AA Change: K61Q

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 probably damaging
Transcript: ENSMUST00000174422
AA Change: K61Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134559
Gene: ENSMUSG00000004591
AA Change: K61Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197529
Meta Mutation Damage Score 0.7577 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.2%
  • 10x: 88.5%
  • 20x: 63.6%
Validation Efficiency 94% (159/169)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,271,703 (GRCm39) D485G probably damaging Het
Adamts19 T C 18: 59,036,137 (GRCm39) probably null Het
Adgrd1 A T 5: 129,255,146 (GRCm39) I598F probably damaging Het
Adh5 A G 3: 138,157,174 (GRCm39) D245G probably benign Het
Adra2b T C 2: 127,206,212 (GRCm39) V238A probably benign Het
Ank1 G A 8: 23,606,258 (GRCm39) V1188I possibly damaging Het
Asap1 C T 15: 63,971,413 (GRCm39) G905D probably damaging Het
AW554918 T C 18: 25,477,959 (GRCm39) V428A probably benign Het
Birc6 T A 17: 74,950,436 (GRCm39) S3226T probably benign Het
Cdh17 A T 4: 11,785,280 (GRCm39) probably benign Het
Cyfip2 A T 11: 46,144,825 (GRCm39) Y676* probably null Het
Dcaf17 T A 2: 70,908,812 (GRCm39) probably benign Het
Dclre1a A G 19: 56,531,139 (GRCm39) F736L probably damaging Het
Ddx41 A T 13: 55,683,193 (GRCm39) H171Q possibly damaging Het
Dennd5b G T 6: 148,895,257 (GRCm39) Q1258K probably benign Het
Dock10 T C 1: 80,584,295 (GRCm39) D137G probably damaging Het
Dpyd G A 3: 118,737,904 (GRCm39) V482I probably benign Het
Erich6 A T 3: 58,543,547 (GRCm39) probably benign Het
Fam193b A G 13: 55,702,024 (GRCm39) probably benign Het
Foxp2 T C 6: 15,405,643 (GRCm39) probably benign Het
Frmd4a T C 2: 4,577,252 (GRCm39) probably null Het
Gas2l2 A G 11: 83,313,693 (GRCm39) S540P possibly damaging Het
Glis2 T C 16: 4,431,517 (GRCm39) V348A probably benign Het
Gm14443 C A 2: 175,011,729 (GRCm39) G239V probably damaging Het
Gpr158 T C 2: 21,831,528 (GRCm39) V876A probably damaging Het
H1f8 A G 6: 115,926,942 (GRCm39) E273G probably benign Het
Hadh C T 3: 131,029,285 (GRCm39) D245N probably damaging Het
Hk2 A T 6: 82,711,957 (GRCm39) probably benign Het
Ice1 A T 13: 70,767,163 (GRCm39) Y108* probably null Het
Il10ra T G 9: 45,167,247 (GRCm39) M435L probably benign Het
Inpp5k GT G 11: 75,521,973 (GRCm39) probably null Het
Kank4 G T 4: 98,666,567 (GRCm39) P627T probably benign Het
Kif16b A G 2: 142,549,346 (GRCm39) probably benign Het
Lipn A G 19: 34,054,376 (GRCm39) I205V probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Myh1 T C 11: 67,106,683 (GRCm39) M1255T probably benign Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Myo1d T G 11: 80,448,349 (GRCm39) K925N probably benign Het
Myoz1 T A 14: 20,699,622 (GRCm39) M239L probably benign Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nf1 C A 11: 79,344,805 (GRCm39) probably benign Het
Npepl1 C T 2: 173,957,879 (GRCm39) P239S probably damaging Het
Olfml1 A G 7: 107,170,506 (GRCm39) K131R probably benign Het
Or12k5 G A 2: 36,895,462 (GRCm39) L55F probably damaging Het
Or1e29 A G 11: 73,667,935 (GRCm39) F73L possibly damaging Het
Or1j15 T A 2: 36,458,893 (GRCm39) Y94* probably null Het
Or1j20 T C 2: 36,760,022 (GRCm39) L148S possibly damaging Het
Or4c10 T A 2: 89,760,423 (GRCm39) I90K possibly damaging Het
Or4f7 A C 2: 111,644,213 (GRCm39) I286S probably damaging Het
Or5p52 C T 7: 107,502,212 (GRCm39) T96I probably benign Het
Or6c202 C T 10: 128,996,707 (GRCm39) D49N possibly damaging Het
Pde7a T C 3: 19,295,697 (GRCm39) probably benign Het
Pik3c2g T C 6: 139,903,519 (GRCm39) C591R probably benign Het
Ppfia1 C A 7: 144,058,711 (GRCm39) G722C probably damaging Het
Ppp1cb T C 5: 32,644,958 (GRCm39) V263A probably damaging Het
Rab11fip2 A T 19: 59,895,567 (GRCm39) N440K possibly damaging Het
Rbm34 T A 8: 127,676,234 (GRCm39) K340N probably damaging Het
Samd3 T C 10: 26,147,399 (GRCm39) probably benign Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sigirr T C 7: 140,671,285 (GRCm39) D399G probably damaging Het
Slc17a7 A G 7: 44,824,371 (GRCm39) E554G probably benign Het
Smc3 A G 19: 53,589,993 (GRCm39) probably benign Het
Tdrd1 T C 19: 56,819,703 (GRCm39) Y68H probably benign Het
Tespa1 T A 10: 130,196,719 (GRCm39) L219Q probably damaging Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Ttc38 A G 15: 85,740,673 (GRCm39) S436G probably benign Het
Ttn T A 2: 76,581,423 (GRCm39) I23157F probably damaging Het
Ubxn2b T A 4: 6,203,875 (GRCm39) probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vmn2r72 T C 7: 85,401,044 (GRCm39) E125G probably benign Het
Vmn2r78 A T 7: 86,572,235 (GRCm39) D532V probably benign Het
Vwa8 C A 14: 79,320,222 (GRCm39) L1078I probably benign Het
Vwce A T 19: 10,641,453 (GRCm39) probably null Het
Zpr1 A G 9: 46,190,995 (GRCm39) D300G probably damaging 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
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
R3940:Pkn2 UTSW 3 142,499,672 (GRCm39) missense probably damaging 1.00
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'- AGAGCACAATACCTGTGGAGTCCTC -3'
(R):5'- ACTTGCCCAGAGTTTGTGAGTGAC -3'

Sequencing Primer
(F):5'- TCCGATACAACGATGTGTGC -3'
(R):5'- cccaaactgtccctgaacc -3'
Posted On 2013-04-11