Incidental Mutation 'R6155:Pkn2'
ID |
489505 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pkn2
|
Ensembl Gene |
ENSMUSG00000004591 |
Gene Name |
protein kinase N2 |
Synonyms |
Stk7, PRK2, Prkcl2, 6030436C20Rik |
MMRRC Submission |
044302-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6155 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
142496663-142587765 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 142559454 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 24
(F24I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039566
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043812]
[ENSMUST00000173830]
[ENSMUST00000173913]
[ENSMUST00000174422]
|
AlphaFold |
Q8BWW9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043812
AA Change: F24I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000039566 Gene: ENSMUSG00000004591 AA Change: F24I
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000173830
AA Change: F24I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000133691 Gene: ENSMUSG00000004591 AA Change: F24I
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000174422
AA Change: F24I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000134559 Gene: ENSMUSG00000004591 AA Change: F24I
Domain | Start | End | E-Value | Type |
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 |
0.0586 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.1%
|
Validation Efficiency |
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
T |
C |
5: 105,111,510 (GRCm39) |
Y319C |
probably benign |
Het |
Actn4 |
A |
C |
7: 28,595,566 (GRCm39) |
I763S |
probably damaging |
Het |
Actr8 |
G |
A |
14: 29,700,546 (GRCm39) |
|
probably null |
Het |
Adrb1 |
T |
C |
19: 56,711,336 (GRCm39) |
L178P |
probably damaging |
Het |
Afap1 |
A |
G |
5: 36,092,953 (GRCm39) |
Y19C |
unknown |
Het |
Ankrd36 |
A |
G |
11: 5,637,442 (GRCm39) |
E1337G |
probably benign |
Het |
Arl4a |
A |
C |
12: 40,086,519 (GRCm39) |
V76G |
probably damaging |
Het |
Bmp1 |
A |
T |
14: 70,745,447 (GRCm39) |
I246K |
probably damaging |
Het |
Camk4 |
A |
T |
18: 33,072,500 (GRCm39) |
T18S |
unknown |
Het |
Cep152 |
T |
C |
2: 125,423,620 (GRCm39) |
H927R |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,525,118 (GRCm39) |
I38T |
probably damaging |
Het |
Clec2g |
A |
C |
6: 128,957,236 (GRCm39) |
T54P |
probably damaging |
Het |
Cox20 |
A |
G |
1: 178,149,362 (GRCm39) |
E31G |
possibly damaging |
Het |
Crispld1 |
T |
A |
1: 17,823,241 (GRCm39) |
H407Q |
probably benign |
Het |
Csmd1 |
T |
C |
8: 15,953,231 (GRCm39) |
I3417V |
probably benign |
Het |
Dhtkd1 |
A |
C |
2: 5,915,170 (GRCm39) |
H700Q |
probably null |
Het |
Dnah10 |
G |
A |
5: 124,847,663 (GRCm39) |
V1516M |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,862,239 (GRCm39) |
T2165A |
probably damaging |
Het |
Dock2 |
C |
G |
11: 34,244,123 (GRCm39) |
M1072I |
probably benign |
Het |
F11 |
T |
A |
8: 45,705,119 (GRCm39) |
T141S |
probably damaging |
Het |
Gabra6 |
T |
A |
11: 42,207,350 (GRCm39) |
I245F |
probably damaging |
Het |
H2-T5 |
G |
A |
17: 36,478,399 (GRCm39) |
A211V |
possibly damaging |
Het |
Herc1 |
T |
A |
9: 66,340,705 (GRCm39) |
C1685S |
possibly damaging |
Het |
Iftap |
A |
T |
2: 101,406,355 (GRCm39) |
|
probably null |
Het |
Il20 |
G |
T |
1: 130,838,477 (GRCm39) |
D73E |
probably damaging |
Het |
Ireb2 |
C |
A |
9: 54,793,811 (GRCm39) |
P247Q |
probably damaging |
Het |
Kcng3 |
T |
C |
17: 83,895,807 (GRCm39) |
I220V |
probably benign |
Het |
Lce1j |
T |
G |
3: 92,696,379 (GRCm39) |
Q133P |
unknown |
Het |
Lgals9 |
C |
T |
11: 78,854,331 (GRCm39) |
A287T |
probably benign |
Het |
Lrrc52 |
A |
G |
1: 167,294,296 (GRCm39) |
|
probably benign |
Het |
Map3k5 |
A |
T |
10: 19,994,187 (GRCm39) |
H1027L |
probably benign |
Het |
Morc3 |
A |
G |
16: 93,659,313 (GRCm39) |
D407G |
possibly damaging |
Het |
Myom1 |
T |
C |
17: 71,415,690 (GRCm39) |
|
probably null |
Het |
Ncapg2 |
T |
C |
12: 116,401,631 (GRCm39) |
F673S |
possibly damaging |
Het |
Ncoa6 |
T |
C |
2: 155,249,368 (GRCm39) |
D1312G |
probably damaging |
Het |
Nkx1-1 |
A |
T |
5: 33,588,395 (GRCm39) |
F298I |
probably damaging |
Het |
Npas2 |
G |
A |
1: 39,326,557 (GRCm39) |
R14Q |
probably damaging |
Het |
Npas4 |
C |
T |
19: 5,036,898 (GRCm39) |
C422Y |
probably damaging |
Het |
Or11h4 |
T |
C |
14: 50,974,076 (GRCm39) |
D181G |
probably benign |
Het |
Or2y11 |
T |
A |
11: 49,443,411 (GRCm39) |
I279N |
possibly damaging |
Het |
Or4c123 |
A |
G |
2: 89,126,765 (GRCm39) |
L283S |
probably damaging |
Het |
Or5p4 |
T |
C |
7: 107,680,493 (GRCm39) |
V164A |
probably benign |
Het |
Pcdhga4 |
T |
C |
18: 37,819,546 (GRCm39) |
I365T |
probably damaging |
Het |
Pear1 |
T |
A |
3: 87,666,875 (GRCm39) |
T37S |
probably damaging |
Het |
Plcb3 |
G |
A |
19: 6,943,533 (GRCm39) |
A122V |
probably damaging |
Het |
Pnliprp1 |
T |
C |
19: 58,718,565 (GRCm39) |
|
probably null |
Het |
Pramel28 |
T |
A |
4: 143,691,712 (GRCm39) |
H337L |
probably benign |
Het |
Psmb3 |
T |
A |
11: 97,603,278 (GRCm39) |
F164I |
probably damaging |
Het |
Ptch2 |
T |
A |
4: 116,954,105 (GRCm39) |
F45Y |
probably damaging |
Het |
Ptpn23 |
C |
A |
9: 110,216,849 (GRCm39) |
|
probably benign |
Het |
Pusl1 |
A |
G |
4: 155,975,005 (GRCm39) |
S199P |
probably damaging |
Het |
Rasgrp2 |
C |
A |
19: 6,452,531 (GRCm39) |
L35I |
probably damaging |
Het |
Rictor |
T |
C |
15: 6,823,458 (GRCm39) |
L1545P |
probably benign |
Het |
Rtn4r |
A |
T |
16: 17,969,258 (GRCm39) |
M229L |
probably benign |
Het |
Ruvbl1 |
A |
T |
6: 88,456,107 (GRCm39) |
|
probably null |
Het |
Slc35b3 |
A |
T |
13: 39,128,572 (GRCm39) |
S30T |
probably damaging |
Het |
Sorcs3 |
T |
C |
19: 48,387,136 (GRCm39) |
V207A |
possibly damaging |
Het |
Sox13 |
A |
G |
1: 133,321,005 (GRCm39) |
S2P |
probably damaging |
Het |
Sptbn1 |
A |
C |
11: 30,087,403 (GRCm39) |
L999R |
probably damaging |
Het |
Taf4 |
A |
G |
2: 179,555,317 (GRCm39) |
V1015A |
probably damaging |
Het |
Top3b |
T |
C |
16: 16,709,373 (GRCm39) |
L687P |
probably damaging |
Het |
Tpp2 |
T |
A |
1: 43,995,649 (GRCm39) |
V268E |
probably damaging |
Het |
Ttc6 |
T |
C |
12: 57,784,402 (GRCm39) |
Y1824H |
possibly damaging |
Het |
Txk |
A |
G |
5: 72,858,069 (GRCm39) |
Y360H |
probably damaging |
Het |
Vmn2r57 |
T |
C |
7: 41,078,114 (GRCm39) |
I115V |
probably benign |
Het |
Vmn2r98 |
T |
C |
17: 19,286,143 (GRCm39) |
S214P |
possibly damaging |
Het |
Zbtb48 |
T |
C |
4: 152,106,495 (GRCm39) |
|
probably null |
Het |
Zzz3 |
A |
G |
3: 152,133,319 (GRCm39) |
I126V |
possibly damaging |
Het |
|
Other mutations in Pkn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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'- TCCTCTGGATCCGATACAACGATG -3'
(R):5'- GCTTCCATATGGTTTTAATACAGGG -3'
Sequencing Primer
(F):5'- TCCGATACAACGATGTGTGC -3'
(R):5'- CAGGGAAATAAGTAGTGTTTCC -3'
|
Posted On |
2017-10-10 |