Incidental Mutation 'R6198:Pkn2'
ID |
503024 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pkn2
|
Ensembl Gene |
ENSMUSG00000004591 |
Gene Name |
protein kinase N2 |
Synonyms |
Stk7, PRK2, Prkcl2, 6030436C20Rik |
MMRRC Submission |
044338-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6198 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
142496663-142587765 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 142516165 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 538
(T538K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133691
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043812]
[ENSMUST00000173830]
[ENSMUST00000173913]
[ENSMUST00000174422]
|
AlphaFold |
Q8BWW9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043812
AA Change: T586K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000039566 Gene: ENSMUSG00000004591 AA Change: T586K
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 |
probably benign
Transcript: ENSMUST00000173615
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173830
AA Change: T538K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000133691 Gene: ENSMUSG00000004591 AA Change: T538K
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: T570K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000134559 Gene: ENSMUSG00000004591 AA Change: T570K
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: ENSMUST00000174169
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174680
|
SMART Domains |
Protein: ENSMUSP00000134041 Gene: ENSMUSG00000004591
Domain | Start | End | E-Value | Type |
Hr1
|
1 |
67 |
1.33e-18 |
SMART |
C2
|
72 |
182 |
3.51e-2 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (68/69) |
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 |
1700006A11Rik |
A |
T |
3: 124,210,499 (GRCm39) |
|
probably null |
Het |
2610318N02Rik |
A |
G |
16: 16,936,233 (GRCm39) |
S164P |
probably damaging |
Het |
Acsbg3 |
A |
G |
17: 57,189,679 (GRCm39) |
S265G |
probably damaging |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adam19 |
A |
C |
11: 46,012,329 (GRCm39) |
N275T |
probably damaging |
Het |
Adgrg7 |
T |
A |
16: 56,597,556 (GRCm39) |
T84S |
possibly damaging |
Het |
Asl |
C |
T |
5: 130,047,757 (GRCm39) |
V70I |
probably benign |
Het |
Atp2c1 |
A |
G |
9: 105,398,271 (GRCm39) |
S26P |
probably benign |
Het |
Bcas3 |
A |
T |
11: 85,400,261 (GRCm39) |
D410V |
probably damaging |
Het |
Cc2d1b |
C |
T |
4: 108,490,422 (GRCm39) |
R825W |
probably damaging |
Het |
Ccdc15 |
A |
C |
9: 37,225,581 (GRCm39) |
|
probably null |
Het |
Cfh |
A |
G |
1: 140,033,178 (GRCm39) |
S789P |
probably damaging |
Het |
Cltc |
T |
C |
11: 86,611,188 (GRCm39) |
N561S |
probably benign |
Het |
Cnst |
A |
G |
1: 179,420,430 (GRCm39) |
Q187R |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 48,177,273 (GRCm39) |
T422A |
probably benign |
Het |
Cyp2c55 |
A |
T |
19: 38,995,565 (GRCm39) |
R26* |
probably null |
Het |
Dgkb |
A |
T |
12: 38,223,822 (GRCm39) |
M414L |
probably benign |
Het |
Dgkd |
A |
G |
1: 87,851,930 (GRCm39) |
D444G |
probably damaging |
Het |
Dipk1b |
A |
G |
2: 26,525,710 (GRCm39) |
K215E |
probably damaging |
Het |
Dnmt3c |
T |
C |
2: 153,561,929 (GRCm39) |
V544A |
noncoding transcript |
Het |
Dus3l |
A |
T |
17: 57,074,858 (GRCm39) |
T327S |
possibly damaging |
Het |
Elf2 |
A |
T |
3: 51,184,670 (GRCm39) |
L5Q |
probably damaging |
Het |
Fxyd6 |
A |
G |
9: 45,301,968 (GRCm39) |
Y30C |
probably damaging |
Het |
Gcc2 |
A |
T |
10: 58,128,412 (GRCm39) |
T1375S |
probably benign |
Het |
Git2 |
A |
T |
5: 114,883,556 (GRCm39) |
Y393* |
probably null |
Het |
Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
Golgb1 |
T |
C |
16: 36,713,757 (GRCm39) |
L246P |
probably damaging |
Het |
Grp |
G |
T |
18: 66,013,057 (GRCm39) |
Q74H |
possibly damaging |
Het |
Ifi203 |
A |
T |
1: 173,751,648 (GRCm39) |
M391K |
probably damaging |
Het |
Itih2 |
A |
G |
2: 10,103,352 (GRCm39) |
Y712H |
probably benign |
Het |
Kdm5a |
T |
A |
6: 120,415,958 (GRCm39) |
V1626E |
probably benign |
Het |
Klhl40 |
A |
G |
9: 121,607,833 (GRCm39) |
Y331C |
probably damaging |
Het |
Kprp |
T |
A |
3: 92,731,994 (GRCm39) |
Y352F |
probably damaging |
Het |
Lama2 |
G |
T |
10: 27,064,018 (GRCm39) |
H1286Q |
probably damaging |
Het |
Lgi4 |
T |
A |
7: 30,768,547 (GRCm39) |
|
probably null |
Het |
Lrrc47 |
A |
T |
4: 154,100,129 (GRCm39) |
N235I |
probably damaging |
Het |
Lrrc74b |
T |
A |
16: 17,366,650 (GRCm39) |
I308F |
probably damaging |
Het |
Map7d1 |
T |
A |
4: 126,135,636 (GRCm39) |
K135M |
probably damaging |
Het |
Marchf5 |
A |
G |
19: 37,188,140 (GRCm39) |
R36G |
probably damaging |
Het |
Mtx3 |
C |
A |
13: 92,989,359 (GRCm39) |
P299Q |
probably benign |
Het |
Muc21 |
T |
A |
17: 35,931,808 (GRCm39) |
|
probably benign |
Het |
Ncapd2 |
C |
A |
6: 125,156,286 (GRCm39) |
E500* |
probably null |
Het |
Nckap5l |
T |
C |
15: 99,323,869 (GRCm39) |
K878R |
probably damaging |
Het |
Nphs1 |
T |
C |
7: 30,167,340 (GRCm39) |
I756T |
probably damaging |
Het |
Olfm4 |
T |
G |
14: 80,237,813 (GRCm39) |
S17A |
probably benign |
Het |
Or1j15 |
A |
G |
2: 36,458,963 (GRCm39) |
M118V |
probably damaging |
Het |
Or4b1 |
A |
T |
2: 89,979,782 (GRCm39) |
D189E |
probably damaging |
Het |
Pak1ip1 |
G |
T |
13: 41,154,886 (GRCm39) |
Q27H |
probably benign |
Het |
Piezo2 |
A |
T |
18: 63,290,281 (GRCm39) |
C159* |
probably null |
Het |
Ppp3cc |
A |
T |
14: 70,485,060 (GRCm39) |
M198K |
probably benign |
Het |
Rrm1 |
T |
G |
7: 102,095,936 (GRCm39) |
|
probably null |
Het |
Setd3 |
T |
C |
12: 108,131,427 (GRCm39) |
K7E |
possibly damaging |
Het |
Shc1 |
A |
G |
3: 89,329,414 (GRCm39) |
K86R |
probably benign |
Het |
Slc16a7 |
T |
C |
10: 125,064,084 (GRCm39) |
T418A |
probably benign |
Het |
Spocd1 |
C |
T |
4: 129,849,208 (GRCm39) |
P676S |
probably damaging |
Het |
Spp1 |
A |
G |
5: 104,587,374 (GRCm39) |
|
probably null |
Het |
Syne1 |
A |
G |
10: 5,252,269 (GRCm39) |
Y2462H |
probably damaging |
Het |
Tiam2 |
T |
C |
17: 3,464,396 (GRCm39) |
S42P |
probably benign |
Het |
Tmem63b |
C |
T |
17: 45,972,442 (GRCm39) |
V722I |
probably benign |
Het |
Ubqln1 |
A |
G |
13: 58,344,404 (GRCm39) |
S130P |
probably benign |
Het |
Usp34 |
G |
T |
11: 23,434,127 (GRCm39) |
L3215F |
probably damaging |
Het |
Uvssa |
A |
G |
5: 33,566,854 (GRCm39) |
Y517C |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,875,560 (GRCm39) |
F1649Y |
probably benign |
Het |
Zfp236 |
A |
G |
18: 82,675,278 (GRCm39) |
S405P |
probably damaging |
Het |
Zfp9 |
T |
C |
6: 118,454,282 (GRCm39) |
M1V |
probably null |
Het |
Zfp946 |
A |
T |
17: 22,673,896 (GRCm39) |
S217C |
probably damaging |
Het |
Zfp970 |
T |
A |
2: 177,167,253 (GRCm39) |
C276S |
probably damaging |
Het |
Zswim5 |
T |
A |
4: 116,735,204 (GRCm39) |
F183Y |
probably benign |
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 |
R6155:Pkn2
|
UTSW |
3 |
142,559,454 (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'- GGAAGAACGGCTATCTCCTATC -3'
(R):5'- TGGAATTGCAGAACTGTTGCTC -3'
Sequencing Primer
(F):5'- AGAACGGCTATCTCCTATCAATTTC -3'
(R):5'- CAGAACTGTTGCTCCTTATTTAAAAG -3'
|
Posted On |
2018-02-27 |