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)
|
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
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 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
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 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
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 |
0.7577 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |