Incidental Mutation 'R7157:Pkn1'
| ID |
557380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkn1
|
| Ensembl Gene |
ENSMUSG00000057672 |
| Gene Name |
protein kinase N1 |
| Synonyms |
PAK1, Stk3, Pkn, Prkcl1, F730027O18Rik, PRK1 |
| MMRRC Submission |
045258-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7157 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
84393165-84425808 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84398363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 768
(F768S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005616]
[ENSMUST00000019608]
[ENSMUST00000132945]
[ENSMUST00000144258]
|
| AlphaFold |
P70268 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005616
AA Change: F763S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005616
Gene: ENSMUSG00000057672
AA Change: F763S
| 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 |
probably benign
Transcript: ENSMUST00000132945
|
| SMART Domains |
Protein: ENSMUSP00000115054
Gene: ENSMUSG00000057672
| 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 |
probably damaging
Transcript: ENSMUST00000144258
AA Change: F768S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116235
Gene: ENSMUSG00000057672
AA Change: F768S
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
G |
A |
7: 41,276,400 (GRCm39) |
G701D |
probably damaging |
Het |
| 6030468B19Rik |
T |
A |
11: 117,693,780 (GRCm39) |
N82K |
probably damaging |
Het |
| Abca17 |
A |
T |
17: 24,554,564 (GRCm39) |
V130E |
possibly damaging |
Het |
| Alpk2 |
T |
A |
18: 65,399,348 (GRCm39) |
K2077* |
probably null |
Het |
| Aox1 |
T |
C |
1: 58,322,651 (GRCm39) |
F73S |
probably benign |
Het |
| Ap3b1 |
T |
A |
13: 94,668,542 (GRCm39) |
C965* |
probably null |
Het |
| Arhgef10 |
T |
A |
8: 14,980,030 (GRCm39) |
V90E |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,751,953 (GRCm39) |
H523Q |
probably benign |
Het |
| Bicdl1 |
G |
T |
5: 115,789,916 (GRCm39) |
Q511K |
possibly damaging |
Het |
| Capn15 |
A |
T |
17: 26,184,228 (GRCm39) |
N150K |
probably damaging |
Het |
| Card6 |
A |
T |
15: 5,129,591 (GRCm39) |
W602R |
probably benign |
Het |
| Clnk |
A |
T |
5: 38,927,234 (GRCm39) |
S82T |
possibly damaging |
Het |
| Cmah |
T |
C |
13: 24,620,612 (GRCm39) |
I282T |
probably damaging |
Het |
| Cog8 |
A |
G |
8: 107,779,131 (GRCm39) |
I382T |
probably benign |
Het |
| Dhrs7c |
G |
T |
11: 67,700,722 (GRCm39) |
|
probably null |
Het |
| Dhrs9 |
T |
A |
2: 69,223,502 (GRCm39) |
D83E |
probably damaging |
Het |
| Dmac2l |
A |
T |
12: 69,788,562 (GRCm39) |
N154Y |
probably benign |
Het |
| Dmgdh |
G |
A |
13: 93,852,043 (GRCm39) |
G624E |
probably damaging |
Het |
| Dnajc30 |
C |
A |
5: 135,093,569 (GRCm39) |
F155L |
probably damaging |
Het |
| Drc7 |
A |
C |
8: 95,800,778 (GRCm39) |
K600T |
probably damaging |
Het |
| Efhb |
A |
C |
17: 53,707,928 (GRCm39) |
I745S |
probably damaging |
Het |
| Elp1 |
ACTTCTTCTTCTTCTTCTTCTTC |
ACTTCTTCTTCTTCTTCTTC |
4: 56,781,176 (GRCm39) |
|
probably benign |
Het |
| Fasn |
T |
A |
11: 120,701,291 (GRCm39) |
K1988* |
probably null |
Het |
| Gad2 |
T |
C |
2: 22,525,035 (GRCm39) |
L273P |
probably damaging |
Het |
| Gm45861 |
A |
T |
8: 28,032,536 (GRCm39) |
K887* |
probably null |
Het |
| Gm45861 |
A |
T |
8: 28,032,537 (GRCm39) |
K887I |
unknown |
Het |
| Gm9195 |
A |
G |
14: 72,718,221 (GRCm39) |
Y152H |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,781,061 (GRCm39) |
D237N |
probably damaging |
Het |
| Hamp |
A |
C |
7: 30,641,961 (GRCm39) |
C65G |
possibly damaging |
Het |
| Hes3 |
A |
G |
4: 152,372,581 (GRCm39) |
|
probably benign |
Het |
| Hgh1 |
T |
C |
15: 76,254,650 (GRCm39) |
I342T |
probably damaging |
Het |
| Hlcs |
T |
A |
16: 94,069,023 (GRCm39) |
K66* |
probably null |
Het |
| Ift80 |
A |
T |
3: 68,898,277 (GRCm39) |
C19* |
probably null |
Het |
| Kbtbd12 |
C |
T |
6: 88,595,650 (GRCm39) |
C60Y |
probably damaging |
Het |
| Kdm4c |
T |
A |
4: 74,263,804 (GRCm39) |
V696E |
probably benign |
Het |
| Lect2 |
A |
G |
13: 56,690,803 (GRCm39) |
I117T |
unknown |
Het |
| Lipn |
T |
A |
19: 34,054,390 (GRCm39) |
Y209* |
probably null |
Het |
| Lpin3 |
G |
A |
2: 160,740,627 (GRCm39) |
V391I |
probably benign |
Het |
| Mocs2 |
A |
T |
13: 114,961,143 (GRCm39) |
I47L |
probably benign |
Het |
| Mogs |
T |
A |
6: 83,095,488 (GRCm39) |
H768Q |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,276,317 (GRCm39) |
I686N |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,299,793 (GRCm39) |
C1376* |
probably null |
Het |
| Ninl |
A |
G |
2: 150,791,263 (GRCm39) |
Y1087H |
possibly damaging |
Het |
| Or10a3 |
A |
G |
7: 108,480,475 (GRCm39) |
F113L |
probably benign |
Het |
| Or10ak14 |
A |
G |
4: 118,611,615 (GRCm39) |
V42A |
possibly damaging |
Het |
| Or4k5 |
A |
G |
14: 50,385,689 (GRCm39) |
L214S |
probably damaging |
Het |
| Or51b6b |
A |
C |
7: 103,309,788 (GRCm39) |
L223R |
probably damaging |
Het |
| Or6s1 |
A |
G |
14: 51,308,616 (GRCm39) |
V78A |
possibly damaging |
Het |
| Or8k30 |
T |
A |
2: 86,339,369 (GRCm39) |
C189S |
probably damaging |
Het |
| Plekha2 |
A |
G |
8: 25,553,957 (GRCm39) |
F82L |
probably damaging |
Het |
| Ppie |
T |
C |
4: 123,028,900 (GRCm39) |
E111G |
probably benign |
Het |
| Rps6ka5 |
T |
C |
12: 100,547,679 (GRCm39) |
Y277C |
probably damaging |
Het |
| Scgb2b12 |
A |
G |
7: 32,026,102 (GRCm39) |
V30A |
probably benign |
Het |
| Serac1 |
A |
T |
17: 6,124,476 (GRCm39) |
S16T |
probably benign |
Het |
| Sf3a3 |
T |
C |
4: 124,616,693 (GRCm39) |
Y192H |
probably damaging |
Het |
| Slc14a1 |
A |
G |
18: 78,145,626 (GRCm39) |
V436A |
probably benign |
Het |
| Smc3 |
T |
A |
19: 53,630,329 (GRCm39) |
M1112K |
probably damaging |
Het |
| Tnk2 |
G |
A |
16: 32,499,986 (GRCm39) |
G1017E |
probably damaging |
Het |
| Tnn |
T |
A |
1: 159,953,947 (GRCm39) |
K603* |
probably null |
Het |
| Trpm6 |
T |
C |
19: 18,815,462 (GRCm39) |
S1183P |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,614,724 (GRCm39) |
V16964E |
possibly damaging |
Het |
| Usp17le |
G |
A |
7: 104,417,696 (GRCm39) |
T482I |
probably benign |
Het |
| Vmn1r219 |
T |
A |
13: 23,347,525 (GRCm39) |
M238K |
probably damaging |
Het |
| Wfs1 |
C |
T |
5: 37,124,516 (GRCm39) |
G792S |
probably benign |
Het |
| Xpa |
A |
T |
4: 46,185,612 (GRCm39) |
L122Q |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCTGGTGAACTATTCTGAAGC -3'
(R):5'- CAGCTTCTATTCGGCCTGTG -3'
Sequencing Primer
(F):5'- AACTATTCTGAAGCTGCTAGGG -3'
(R):5'- CACAAGATTGTCTACAGGTGTGTACG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation