Incidental Mutation 'R7189:Pkn1'
ID |
559498 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pkn1
|
Ensembl Gene |
ENSMUSG00000057672 |
Gene Name |
protein kinase N1 |
Synonyms |
PAK1, Stk3, Pkn, Prkcl1, F730027O18Rik, PRK1 |
MMRRC Submission |
045238-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7189 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
84393165-84425808 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 84419302 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 100
(H100Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116235
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005616]
[ENSMUST00000132945]
[ENSMUST00000144258]
|
AlphaFold |
P70268 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005616
AA Change: H95Q
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000005616 Gene: ENSMUSG00000057672 AA Change: H95Q
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 damaging
Transcript: ENSMUST00000132945
AA Change: H107Q
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000115054 Gene: ENSMUSG00000057672 AA Change: H107Q
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 |
possibly damaging
Transcript: ENSMUST00000144258
AA Change: H100Q
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000116235 Gene: ENSMUSG00000057672 AA Change: H100Q
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
95% (57/60) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
G |
T |
2: 103,397,861 (GRCm39) |
A264S |
probably benign |
Het |
Atosa |
T |
C |
9: 74,911,633 (GRCm39) |
C42R |
probably damaging |
Het |
Atr |
G |
T |
9: 95,744,844 (GRCm39) |
E54* |
probably null |
Het |
Bmp4 |
A |
G |
14: 46,621,456 (GRCm39) |
S363P |
probably damaging |
Het |
Cfap54 |
C |
A |
10: 92,773,590 (GRCm39) |
A2077S |
unknown |
Het |
Chrna7 |
T |
C |
7: 62,755,775 (GRCm39) |
D257G |
probably damaging |
Het |
Chrnd |
C |
T |
1: 87,118,780 (GRCm39) |
R46W |
probably damaging |
Het |
Cntn2 |
A |
G |
1: 132,444,824 (GRCm39) |
I851T |
probably damaging |
Het |
Col3a1 |
T |
A |
1: 45,372,817 (GRCm39) |
I534K |
unknown |
Het |
Cyp3a25 |
A |
T |
5: 145,939,870 (GRCm39) |
L46I |
probably benign |
Het |
Dnah7b |
G |
C |
1: 46,281,302 (GRCm39) |
G2788R |
probably damaging |
Het |
Dnpep |
T |
C |
1: 75,290,074 (GRCm39) |
E301G |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,986,690 (GRCm39) |
S30P |
probably benign |
Het |
Elk4 |
A |
G |
1: 131,947,127 (GRCm39) |
I373V |
probably damaging |
Het |
Fam161b |
T |
C |
12: 84,395,420 (GRCm39) |
S508G |
probably damaging |
Het |
Fgf10 |
A |
G |
13: 118,925,659 (GRCm39) |
E146G |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,823,581 (GRCm39) |
D6438G |
possibly damaging |
Het |
Garin2 |
C |
T |
12: 78,758,982 (GRCm39) |
P101S |
probably benign |
Het |
Gask1b |
T |
A |
3: 79,794,114 (GRCm39) |
L194* |
probably null |
Het |
Gm49355 |
T |
A |
14: 12,296,672 (GRCm38) |
C10* |
probably null |
Het |
Hfm1 |
A |
G |
5: 107,049,569 (GRCm39) |
|
probably null |
Het |
Hivep3 |
T |
C |
4: 119,989,416 (GRCm39) |
S1956P |
probably damaging |
Het |
Hrh2 |
A |
G |
13: 54,375,270 (GRCm39) |
S369G |
unknown |
Het |
Hspg2 |
T |
C |
4: 137,260,872 (GRCm39) |
|
probably null |
Het |
Hsph1 |
T |
C |
5: 149,553,925 (GRCm39) |
Y181C |
probably damaging |
Het |
Kcnh8 |
A |
G |
17: 53,201,145 (GRCm39) |
|
probably null |
Het |
Kctd1 |
C |
T |
18: 15,195,700 (GRCm39) |
E308K |
possibly damaging |
Het |
Kdm8 |
A |
T |
7: 125,060,103 (GRCm39) |
Y335F |
probably damaging |
Het |
Kif2b |
C |
G |
11: 91,467,963 (GRCm39) |
G107R |
probably benign |
Het |
Lama4 |
G |
A |
10: 38,841,729 (GRCm39) |
|
probably benign |
Het |
Lepr |
T |
C |
4: 101,671,961 (GRCm39) |
V995A |
probably benign |
Het |
Mfsd4a |
A |
T |
1: 131,980,131 (GRCm39) |
V375E |
probably damaging |
Het |
Mgl2 |
G |
T |
11: 70,027,869 (GRCm39) |
W359L |
probably damaging |
Het |
Muc5b |
C |
A |
7: 141,414,798 (GRCm39) |
Y2581* |
probably null |
Het |
Nol10 |
G |
T |
12: 17,423,562 (GRCm39) |
|
probably null |
Het |
Or4k47 |
T |
A |
2: 111,451,538 (GRCm39) |
M294L |
probably benign |
Het |
Or52n3 |
A |
T |
7: 104,530,348 (GRCm39) |
K145* |
probably null |
Het |
Otud3 |
C |
T |
4: 138,636,865 (GRCm39) |
V99M |
probably damaging |
Het |
Parvb |
T |
C |
15: 84,187,672 (GRCm39) |
|
probably null |
Het |
Pclo |
C |
A |
5: 14,571,932 (GRCm39) |
P439Q |
possibly damaging |
Het |
Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
Plce1 |
A |
T |
19: 38,748,581 (GRCm39) |
I1771F |
probably damaging |
Het |
Plxna2 |
G |
T |
1: 194,483,366 (GRCm39) |
R1559L |
possibly damaging |
Het |
Ppp2r3d |
T |
A |
9: 101,003,621 (GRCm39) |
I416L |
possibly damaging |
Het |
Pramel42 |
T |
A |
5: 94,685,610 (GRCm39) |
Y423* |
probably null |
Het |
Robo1 |
C |
A |
16: 72,757,039 (GRCm39) |
C333* |
probably null |
Het |
Ryr2 |
A |
T |
13: 11,898,009 (GRCm39) |
Y129N |
probably damaging |
Het |
Schip1 |
A |
T |
3: 68,525,032 (GRCm39) |
K359M |
probably damaging |
Het |
Schip1 |
G |
T |
3: 68,525,033 (GRCm39) |
K359N |
probably damaging |
Het |
Sh2d2a |
T |
A |
3: 87,755,668 (GRCm39) |
S65T |
possibly damaging |
Het |
Ssrp1 |
G |
A |
2: 84,875,906 (GRCm39) |
M588I |
probably benign |
Het |
Stim2 |
T |
A |
5: 54,273,470 (GRCm39) |
C567S |
probably benign |
Het |
Syne1 |
C |
A |
10: 5,374,295 (GRCm39) |
A171S |
probably benign |
Het |
Tigd3 |
A |
G |
19: 5,943,050 (GRCm39) |
S27P |
probably benign |
Het |
Vipr1 |
C |
A |
9: 121,493,620 (GRCm39) |
Q224K |
probably damaging |
Het |
Vmn1r75 |
T |
A |
7: 11,614,475 (GRCm39) |
M69K |
possibly damaging |
Het |
Vmn2r72 |
T |
G |
7: 85,404,125 (GRCm39) |
D22A |
probably benign |
Het |
Zbtb24 |
G |
A |
10: 41,340,472 (GRCm39) |
V523I |
probably benign |
Het |
Zbtb43 |
A |
G |
2: 33,352,307 (GRCm39) |
F20S |
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 |
IGL02058:Pkn1
|
APN |
8 |
84,407,854 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTGGATGCTGGTGAGTCTATATC -3'
(R):5'- CAACAGCTGGAGTTAGAGCG -3'
Sequencing Primer
(F):5'- TCTAGGTACTCCTAATGCCAAAG -3'
(R):5'- CGAGAGCGACTGAAGCG -3'
|
Posted On |
2019-06-26 |