Incidental Mutation 'R8876:Pkn1'
| ID |
676579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkn1
|
| Ensembl Gene |
ENSMUSG00000057672 |
| Gene Name |
protein kinase N1 |
| Synonyms |
PAK1, Stk3, Pkn, Prkcl1, F730027O18Rik, PRK1 |
| MMRRC Submission |
068688-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8876 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
84393165-84425808 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84398879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 696
(T696A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005616]
[ENSMUST00000019608]
[ENSMUST00000132945]
[ENSMUST00000144258]
|
| AlphaFold |
P70268 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005616
AA Change: T691A
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000005616
Gene: ENSMUSG00000057672
AA Change: T691A
| 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 benign
Transcript: ENSMUST00000019608
|
| SMART Domains |
Protein: ENSMUSP00000019608
Gene: ENSMUSG00000019464
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
52 |
354 |
2.3e-17 |
PFAM |
|
low complexity region
|
356 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
392 |
405 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000132945
AA Change: T703A
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115054
Gene: ENSMUSG00000057672
AA Change: T703A
| 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: T696A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116235
Gene: ENSMUSG00000057672
AA Change: T696A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (55/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
A |
C |
2: 93,668,403 (GRCm39) |
L356R |
probably damaging |
Het |
| Acvr1 |
A |
T |
2: 58,338,422 (GRCm39) |
D433E |
possibly damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,971,502 (GRCm39) |
L122P |
probably damaging |
Het |
| Ap3b1 |
T |
G |
13: 94,540,586 (GRCm39) |
N169K |
possibly damaging |
Het |
| Apbb2 |
A |
G |
5: 66,609,000 (GRCm39) |
S216P |
probably benign |
Het |
| Arap3 |
T |
A |
18: 38,130,077 (GRCm39) |
H28L |
possibly damaging |
Het |
| Arhgap44 |
C |
T |
11: 64,898,896 (GRCm39) |
M760I |
possibly damaging |
Het |
| Arhgef19 |
G |
T |
4: 140,975,193 (GRCm39) |
A304S |
probably benign |
Het |
| Atpaf1 |
T |
C |
4: 115,645,548 (GRCm39) |
I139T |
possibly damaging |
Het |
| BC024139 |
G |
T |
15: 76,010,320 (GRCm39) |
T62K |
possibly damaging |
Het |
| Bmal2 |
G |
A |
6: 146,723,492 (GRCm39) |
G274D |
probably benign |
Het |
| Capn5 |
T |
C |
7: 97,780,902 (GRCm39) |
T292A |
probably benign |
Het |
| Card19 |
T |
C |
13: 49,358,814 (GRCm39) |
N53S |
possibly damaging |
Het |
| Cep97 |
A |
G |
16: 55,742,467 (GRCm39) |
V232A |
possibly damaging |
Het |
| Cfap298 |
A |
G |
16: 90,724,281 (GRCm39) |
I164T |
possibly damaging |
Het |
| Clca3a2 |
G |
T |
3: 144,777,360 (GRCm39) |
T837K |
probably benign |
Het |
| Col8a2 |
G |
C |
4: 126,204,647 (GRCm39) |
G219A |
probably damaging |
Het |
| Ctu2 |
T |
C |
8: 123,206,951 (GRCm39) |
S365P |
|
Het |
| Dnah2 |
T |
C |
11: 69,382,348 (GRCm39) |
D1254G |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,420,828 (GRCm39) |
L1686S |
probably damaging |
Het |
| Fgr |
A |
G |
4: 132,726,071 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
T |
A |
2: 4,606,111 (GRCm39) |
S612T |
probably damaging |
Het |
| Gadd45gip1 |
T |
C |
8: 85,560,748 (GRCm39) |
I121T |
probably damaging |
Het |
| Gapvd1 |
A |
G |
2: 34,568,560 (GRCm39) |
V1353A |
possibly damaging |
Het |
| Gdf3 |
G |
A |
6: 122,583,942 (GRCm39) |
P142S |
probably damaging |
Het |
| Gm19965 |
G |
A |
1: 116,749,776 (GRCm39) |
G486R |
unknown |
Het |
| Gpatch2l |
T |
C |
12: 86,308,405 (GRCm39) |
L307P |
probably damaging |
Het |
| Grm3 |
T |
C |
5: 9,561,580 (GRCm39) |
K757E |
probably damaging |
Het |
| Inppl1 |
T |
A |
7: 101,472,750 (GRCm39) |
H1218L |
possibly damaging |
Het |
| Jag2 |
T |
C |
12: 112,873,257 (GRCm39) |
I1055V |
probably benign |
Het |
| Krtap9-5 |
G |
T |
11: 99,840,340 (GRCm39) |
C347F |
unknown |
Het |
| Magi2 |
T |
A |
5: 20,856,190 (GRCm39) |
Y1050* |
probably null |
Het |
| Myrf |
A |
G |
19: 10,206,378 (GRCm39) |
|
probably benign |
Het |
| Ntpcr |
T |
G |
8: 126,464,785 (GRCm39) |
|
probably benign |
Het |
| Or13a19 |
T |
C |
7: 139,902,716 (GRCm39) |
Y35H |
probably damaging |
Het |
| Or1p1b |
C |
T |
11: 74,130,846 (GRCm39) |
T152I |
probably damaging |
Het |
| Or2y1c |
T |
C |
11: 49,361,386 (GRCm39) |
M136T |
probably damaging |
Het |
| Palmd |
T |
G |
3: 116,720,899 (GRCm39) |
D145A |
probably damaging |
Het |
| Pdcd1 |
A |
G |
1: 93,980,155 (GRCm39) |
S21P |
probably benign |
Het |
| Pnpt1 |
T |
A |
11: 29,096,769 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
T |
A |
7: 110,049,146 (GRCm39) |
I273F |
probably damaging |
Het |
| Skic3 |
T |
G |
13: 76,323,403 (GRCm39) |
D1382E |
probably benign |
Het |
| Slc16a4 |
A |
T |
3: 107,208,101 (GRCm39) |
N204Y |
probably benign |
Het |
| Slc38a1 |
T |
C |
15: 96,514,091 (GRCm39) |
I44V |
possibly damaging |
Het |
| Smpdl3a |
T |
C |
10: 57,685,166 (GRCm39) |
V312A |
probably damaging |
Het |
| Ston1 |
A |
G |
17: 88,942,600 (GRCm39) |
Y2C |
probably benign |
Het |
| Syde1 |
A |
T |
10: 78,425,325 (GRCm39) |
Y229N |
probably damaging |
Het |
| Ttc6 |
T |
A |
12: 57,784,489 (GRCm39) |
C1853S |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,609,249 (GRCm39) |
I17650T |
possibly damaging |
Het |
| Upf1 |
T |
C |
8: 70,796,918 (GRCm39) |
E105G |
possibly damaging |
Het |
| Wrn |
A |
G |
8: 33,814,422 (GRCm39) |
W341R |
probably benign |
Het |
| Xndc1 |
C |
T |
7: 101,729,754 (GRCm39) |
P267L |
probably benign |
Het |
| Zbtb26 |
T |
C |
2: 37,326,896 (GRCm39) |
T47A |
probably benign |
Het |
| Zc3h10 |
A |
T |
10: 128,380,163 (GRCm39) |
V398E |
probably damaging |
Het |
| Zfp652 |
G |
T |
11: 95,639,921 (GRCm39) |
|
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 |
|
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 |
|
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'- TTCCTCAGGCACCAAAGTCC -3'
(R):5'- GTGCAACTCAACAGATACCTGAG -3'
Sequencing Primer
(F):5'- TCCCAAAGCTGTGCAGGAG -3'
(R):5'- TCAACAGATACCTGAGTGAACCTGG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation