Incidental Mutation 'R2026:Pkn1'
| ID |
220629 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2026 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
84393165-84425808 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84398007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 795
(V795A)
|
| 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: V790A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005616
Gene: ENSMUSG00000057672
AA Change: V790A
| 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 |
noncoding transcript
Transcript: ENSMUST00000124946
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128523
|
| Predicted Effect |
silent
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 |
noncoding transcript
Transcript: ENSMUST00000138898
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144258
AA Change: V795A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116235
Gene: ENSMUSG00000057672
AA Change: V795A
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159935
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212519
|
| Meta Mutation Damage Score |
0.1872 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
A |
G |
8: 120,880,205 (GRCm39) |
K269R |
probably benign |
Het |
| Abcc12 |
A |
G |
8: 87,284,862 (GRCm39) |
V251A |
probably benign |
Het |
| Avil |
G |
A |
10: 126,847,742 (GRCm39) |
G556S |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,525,562 (GRCm39) |
Y898C |
probably damaging |
Het |
| Cacng2 |
A |
G |
15: 77,879,720 (GRCm39) |
F201L |
possibly damaging |
Het |
| Casp7 |
T |
A |
19: 56,424,830 (GRCm39) |
I183N |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,397,388 (GRCm39) |
W62R |
probably damaging |
Het |
| Ctrb1 |
T |
C |
8: 112,415,317 (GRCm39) |
N119S |
probably benign |
Het |
| Cyp3a59 |
G |
A |
5: 146,033,098 (GRCm39) |
V157M |
probably damaging |
Het |
| Dhfr |
G |
T |
13: 92,502,279 (GRCm39) |
G117* |
probably null |
Het |
| Dido1 |
A |
T |
2: 180,330,974 (GRCm39) |
L158* |
probably null |
Het |
| Dlg2 |
C |
A |
7: 91,614,931 (GRCm39) |
P290Q |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,638,629 (GRCm39) |
Q1240L |
probably damaging |
Het |
| Exd1 |
A |
T |
2: 119,350,786 (GRCm39) |
S492T |
probably benign |
Het |
| Fermt1 |
T |
C |
2: 132,760,445 (GRCm39) |
I415M |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,819,788 (GRCm39) |
T5174A |
possibly damaging |
Het |
| Fuca2 |
T |
G |
10: 13,388,391 (GRCm39) |
V389G |
probably damaging |
Het |
| Gm14412 |
A |
T |
2: 177,008,898 (GRCm39) |
H50Q |
possibly damaging |
Het |
| Gm5129 |
G |
A |
5: 29,940,732 (GRCm39) |
|
probably benign |
Het |
| Hif3a |
T |
C |
7: 16,778,322 (GRCm39) |
R437G |
possibly damaging |
Het |
| Hook3 |
T |
C |
8: 26,528,126 (GRCm39) |
E588G |
probably damaging |
Het |
| Hs1bp3 |
A |
G |
12: 8,387,738 (GRCm39) |
E301G |
probably benign |
Het |
| Icam2 |
A |
G |
11: 106,273,268 (GRCm39) |
F15L |
probably benign |
Het |
| Ice2 |
T |
C |
9: 69,323,607 (GRCm39) |
S701P |
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,864,996 (GRCm39) |
V151A |
possibly damaging |
Het |
| Lig4 |
A |
T |
8: 10,022,436 (GRCm39) |
L448Q |
probably damaging |
Het |
| Man2b1 |
G |
C |
8: 85,821,964 (GRCm39) |
W726C |
probably damaging |
Het |
| Mepe |
T |
C |
5: 104,474,957 (GRCm39) |
S13P |
possibly damaging |
Het |
| Msh6 |
C |
T |
17: 88,297,771 (GRCm39) |
H1264Y |
probably damaging |
Het |
| Ncoa1 |
A |
T |
12: 4,317,647 (GRCm39) |
S1228R |
probably benign |
Het |
| Ndufa10 |
A |
G |
1: 92,367,614 (GRCm39) |
Y339H |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Nutm2 |
A |
G |
13: 50,628,856 (GRCm39) |
H640R |
probably benign |
Het |
| Or11i1 |
T |
C |
3: 106,729,027 (GRCm39) |
I283V |
probably benign |
Het |
| Or2t1 |
T |
C |
14: 14,328,891 (GRCm38) |
V260A |
probably benign |
Het |
| Or51ac3 |
T |
A |
7: 103,214,084 (GRCm39) |
Y134F |
probably damaging |
Het |
| Or5b123 |
T |
A |
19: 13,596,945 (GRCm39) |
C140S |
probably damaging |
Het |
| Or5w1b |
G |
T |
2: 87,475,753 (GRCm39) |
A238E |
probably damaging |
Het |
| Or6c211 |
T |
A |
10: 129,506,334 (GRCm39) |
D18V |
probably damaging |
Het |
| Pde1c |
C |
T |
6: 56,157,175 (GRCm39) |
V162I |
probably damaging |
Het |
| Pdss2 |
A |
T |
10: 43,269,871 (GRCm39) |
N238I |
possibly damaging |
Het |
| Pfas |
C |
T |
11: 68,884,783 (GRCm39) |
G473E |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,883,107 (GRCm39) |
D1757G |
possibly damaging |
Het |
| Popdc3 |
T |
C |
10: 45,190,951 (GRCm39) |
W21R |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rfc1 |
G |
T |
5: 65,445,372 (GRCm39) |
T412K |
probably damaging |
Het |
| Sap130 |
T |
C |
18: 31,831,627 (GRCm39) |
S706P |
possibly damaging |
Het |
| Scgn |
T |
C |
13: 24,175,047 (GRCm39) |
|
probably benign |
Het |
| Smad7 |
T |
C |
18: 75,527,225 (GRCm39) |
V357A |
probably damaging |
Het |
| Snrnp48 |
G |
T |
13: 38,393,862 (GRCm39) |
A56S |
possibly damaging |
Het |
| Sptbn1 |
G |
T |
11: 30,054,559 (GRCm39) |
A2178E |
probably benign |
Het |
| Syn2 |
C |
T |
6: 115,255,212 (GRCm39) |
T508I |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tmtc4 |
T |
C |
14: 123,158,677 (GRCm39) |
N682S |
probably benign |
Het |
| Trpm7 |
T |
C |
2: 126,654,658 (GRCm39) |
K1427E |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,739,854 (GRCm39) |
I1118V |
possibly damaging |
Het |
| Tslp |
A |
T |
18: 32,948,725 (GRCm39) |
I37L |
probably benign |
Het |
| Ttll3 |
G |
A |
6: 113,375,731 (GRCm39) |
V297M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,540,713 (GRCm39) |
D34091G |
possibly damaging |
Het |
| Txndc11 |
CCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGC |
16: 10,952,338 (GRCm39) |
|
probably benign |
Het |
| Ube3a |
T |
C |
7: 58,953,474 (GRCm39) |
F803L |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,882,514 (GRCm39) |
E325G |
probably damaging |
Het |
| Wfikkn2 |
A |
G |
11: 94,129,779 (GRCm39) |
W121R |
possibly damaging |
Het |
| Zfp579 |
C |
A |
7: 4,996,520 (GRCm39) |
E464* |
probably null |
Het |
| Zfp616 |
A |
T |
11: 73,974,413 (GRCm39) |
L227F |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGCTCCAGATCATACTTCACG -3'
(R):5'- ACCCTAGCAGCTTCAGAATAGTTC -3'
Sequencing Primer
(F):5'- CCAGATCATACTTCACGTGGTAGG -3'
(R):5'- GCTTCAGAATAGTTCACCAGCTCTAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation