Incidental Mutation 'IGL02058:Pkn1'
| ID |
185281 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pkn1
|
| Ensembl Gene |
ENSMUSG00000057672 |
| Gene Name |
protein kinase N1 |
| Synonyms |
PAK1, Stk3, Pkn, Prkcl1, F730027O18Rik, PRK1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02058
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
84393165-84425808 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 84407854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 418
(C418*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005616]
[ENSMUST00000132945]
[ENSMUST00000144258]
|
| AlphaFold |
P70268 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000005616
AA Change: C413*
|
| SMART Domains |
Protein: ENSMUSP00000005616
Gene: ENSMUSG00000057672
AA Change: C413*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
Hr1
|
37 |
101 |
6.74e-20 |
SMART |
|
Hr1
|
126 |
194 |
1.13e-21 |
SMART |
|
Hr1
|
216 |
284 |
7.79e-25 |
SMART |
|
C2
|
328 |
464 |
2.45e-1 |
SMART |
|
low complexity region
|
569 |
601 |
N/A |
INTRINSIC |
|
S_TKc
|
619 |
878 |
2.83e-96 |
SMART |
|
S_TK_X
|
879 |
943 |
5.29e-18 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000132945
AA Change: C425*
|
| SMART Domains |
Protein: ENSMUSP00000115054
Gene: ENSMUSG00000057672
AA Change: C425*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
42 |
N/A |
INTRINSIC |
|
Hr1
|
49 |
113 |
6.74e-20 |
SMART |
|
Hr1
|
138 |
206 |
1.13e-21 |
SMART |
|
Hr1
|
228 |
296 |
7.79e-25 |
SMART |
|
C2
|
340 |
476 |
2.45e-1 |
SMART |
|
low complexity region
|
581 |
613 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
631 |
756 |
2.2e-23 |
PFAM |
|
Pfam:Pkinase_Tyr
|
631 |
757 |
1.5e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133195
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000144258
AA Change: C418*
|
| SMART Domains |
Protein: ENSMUSP00000116235
Gene: ENSMUSG00000057672
AA Change: C418*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
35 |
N/A |
INTRINSIC |
|
Hr1
|
42 |
106 |
6.74e-20 |
SMART |
|
Hr1
|
131 |
199 |
1.13e-21 |
SMART |
|
Hr1
|
221 |
289 |
7.79e-25 |
SMART |
|
C2
|
333 |
469 |
2.45e-1 |
SMART |
|
low complexity region
|
574 |
606 |
N/A |
INTRINSIC |
|
S_TKc
|
624 |
883 |
2.83e-96 |
SMART |
|
S_TK_X
|
884 |
948 |
5.29e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146057
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin signals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during apoptosis suggests its role in signal transduction related to apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spontaneously formed GCs and developed an autoimmune-like disease with autoantibody production and glomerulonephritis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
A |
2: 69,073,842 (GRCm39) |
A1228S |
probably damaging |
Het |
| Adamts12 |
G |
A |
15: 11,215,696 (GRCm39) |
R239K |
probably benign |
Het |
| Akap6 |
A |
G |
12: 53,187,338 (GRCm39) |
D1584G |
probably damaging |
Het |
| Asns |
A |
G |
6: 7,685,184 (GRCm39) |
C158R |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,753,540 (GRCm39) |
L714P |
probably damaging |
Het |
| Ccdc126 |
G |
T |
6: 49,311,134 (GRCm39) |
E47D |
probably benign |
Het |
| Cemip |
T |
C |
7: 83,646,500 (GRCm39) |
S183G |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,176,321 (GRCm39) |
|
probably benign |
Het |
| Cyp11b2 |
G |
T |
15: 74,725,038 (GRCm39) |
N270K |
probably benign |
Het |
| Ephx2 |
A |
G |
14: 66,341,173 (GRCm39) |
|
probably null |
Het |
| Fcho2 |
G |
A |
13: 98,867,414 (GRCm39) |
T683I |
probably damaging |
Het |
| Grm7 |
G |
A |
6: 111,335,278 (GRCm39) |
C563Y |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,579,932 (GRCm39) |
N1935S |
probably benign |
Het |
| Hus1b |
A |
G |
13: 31,130,900 (GRCm39) |
L253S |
probably benign |
Het |
| Kmt5b |
T |
C |
19: 3,843,181 (GRCm39) |
Y93H |
probably damaging |
Het |
| Krt73 |
A |
T |
15: 101,710,456 (GRCm39) |
S93T |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,727,306 (GRCm39) |
V917A |
probably benign |
Het |
| Map2k6 |
C |
T |
11: 110,383,409 (GRCm39) |
T106M |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,235,463 (GRCm39) |
S664P |
probably damaging |
Het |
| Nmt1 |
C |
T |
11: 102,943,116 (GRCm39) |
T157I |
probably benign |
Het |
| Nup160 |
T |
C |
2: 90,560,051 (GRCm39) |
S1259P |
probably damaging |
Het |
| Pak1 |
C |
T |
7: 97,560,322 (GRCm39) |
A523V |
probably damaging |
Het |
| Parpbp |
A |
C |
10: 87,979,898 (GRCm39) |
S19R |
probably benign |
Het |
| Pdzd2 |
G |
T |
15: 12,376,382 (GRCm39) |
T1251N |
possibly damaging |
Het |
| Phaf1 |
T |
A |
8: 105,966,341 (GRCm39) |
I105N |
probably damaging |
Het |
| Pitpnm3 |
A |
T |
11: 72,010,965 (GRCm39) |
N22K |
probably benign |
Het |
| Pkn2 |
A |
G |
3: 142,509,424 (GRCm39) |
F723L |
probably damaging |
Het |
| Pkp4 |
C |
T |
2: 59,142,073 (GRCm39) |
R459* |
probably null |
Het |
| Prex1 |
A |
C |
2: 166,427,103 (GRCm39) |
S871A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,002,502 (GRCm39) |
T1531A |
probably benign |
Het |
| Rad1 |
C |
A |
15: 10,493,361 (GRCm39) |
Q263K |
probably benign |
Het |
| Sh2d6 |
C |
A |
6: 72,490,961 (GRCm39) |
G307* |
probably null |
Het |
| Slc52a3 |
T |
A |
2: 151,847,811 (GRCm39) |
N306K |
probably damaging |
Het |
| Spock3 |
A |
T |
8: 63,698,232 (GRCm39) |
R195* |
probably null |
Het |
| Stil |
A |
G |
4: 114,871,359 (GRCm39) |
S310G |
probably benign |
Het |
| Wbp1l |
T |
A |
19: 46,640,959 (GRCm39) |
C80* |
probably null |
Het |
| Wnt2b |
A |
G |
3: 104,854,408 (GRCm39) |
V350A |
probably benign |
Het |
|
| Other mutations in Pkn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Pkn1
|
APN |
8 |
84,407,635 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03142:Pkn1
|
APN |
8 |
84,397,652 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Xinjiang
|
UTSW |
8 |
84,419,556 (GRCm39) |
nonsense |
probably null |
|
|
R0115:Pkn1
|
UTSW |
8 |
84,397,658 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0157:Pkn1
|
UTSW |
8 |
84,419,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0304:Pkn1
|
UTSW |
8 |
84,410,236 (GRCm39) |
splice site |
probably benign |
|
|
R0450:Pkn1
|
UTSW |
8 |
84,398,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0469:Pkn1
|
UTSW |
8 |
84,398,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1419:Pkn1
|
UTSW |
8 |
84,400,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1539:Pkn1
|
UTSW |
8 |
84,396,966 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2025:Pkn1
|
UTSW |
8 |
84,398,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2026:Pkn1
|
UTSW |
8 |
84,398,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2027:Pkn1
|
UTSW |
8 |
84,398,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2029:Pkn1
|
UTSW |
8 |
84,404,592 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2886:Pkn1
|
UTSW |
8 |
84,407,867 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3017:Pkn1
|
UTSW |
8 |
84,396,799 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3402:Pkn1
|
UTSW |
8 |
84,396,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4110:Pkn1
|
UTSW |
8 |
84,417,828 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4504:Pkn1
|
UTSW |
8 |
84,419,556 (GRCm39) |
nonsense |
probably null |
|
|
R4739:Pkn1
|
UTSW |
8 |
84,398,378 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4838:Pkn1
|
UTSW |
8 |
84,404,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4857:Pkn1
|
UTSW |
8 |
84,410,856 (GRCm39) |
splice site |
probably null |
|
|
R5239:Pkn1
|
UTSW |
8 |
84,410,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5558:Pkn1
|
UTSW |
8 |
84,411,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5613:Pkn1
|
UTSW |
8 |
84,404,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6169:Pkn1
|
UTSW |
8 |
84,407,835 (GRCm39) |
nonsense |
probably null |
|
|
R6172:Pkn1
|
UTSW |
8 |
84,397,384 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6273:Pkn1
|
UTSW |
8 |
84,398,899 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6318:Pkn1
|
UTSW |
8 |
84,410,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6531:Pkn1
|
UTSW |
8 |
84,396,922 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6969:Pkn1
|
UTSW |
8 |
84,410,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7142:Pkn1
|
UTSW |
8 |
84,420,596 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7157:Pkn1
|
UTSW |
8 |
84,398,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7189:Pkn1
|
UTSW |
8 |
84,419,302 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7981:Pkn1
|
UTSW |
8 |
84,407,637 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8876:Pkn1
|
UTSW |
8 |
84,398,879 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8953:Pkn1
|
UTSW |
8 |
84,410,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9048:Pkn1
|
UTSW |
8 |
84,424,663 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9374:Pkn1
|
UTSW |
8 |
84,404,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9495:Pkn1
|
UTSW |
8 |
84,410,799 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9549:Pkn1
|
UTSW |
8 |
84,419,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pkn1
|
UTSW |
8 |
84,400,126 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation