Incidental Mutation 'R4110:Pkn1'
ID |
366523 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pkn1
|
Ensembl Gene |
ENSMUSG00000057672 |
Gene Name |
protein kinase N1 |
Synonyms |
PAK1, Stk3, Pkn, Prkcl1, F730027O18Rik, PRK1 |
MMRRC Submission |
040988-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4110 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
84393165-84425808 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 84417828 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 120
(D120E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115054
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005616]
[ENSMUST00000132945]
[ENSMUST00000144258]
|
AlphaFold |
P70268 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005616
AA Change: D108E
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000005616 Gene: ENSMUSG00000057672 AA Change: D108E
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: ENSMUST00000132945
AA Change: D120E
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000115054 Gene: ENSMUSG00000057672 AA Change: D120E
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: ENSMUST00000135356
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144258
AA Change: D113E
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000116235 Gene: ENSMUSG00000057672 AA Change: D113E
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 |
0.1104 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.3%
- 20x: 95.6%
|
Validation Efficiency |
100% (61/61) |
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 |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Acot10 |
A |
T |
15: 20,666,612 (GRCm39) |
L43Q |
probably damaging |
Het |
Alms1 |
G |
A |
6: 85,597,870 (GRCm39) |
V1368I |
probably benign |
Het |
Als2cl |
T |
C |
9: 110,713,115 (GRCm39) |
S2P |
probably benign |
Het |
AW209491 |
T |
C |
13: 14,812,158 (GRCm39) |
V337A |
probably damaging |
Het |
Bace2 |
A |
G |
16: 97,237,856 (GRCm39) |
T436A |
probably benign |
Het |
BC023105 |
A |
G |
18: 60,575,356 (GRCm39) |
|
noncoding transcript |
Het |
Blvra |
T |
C |
2: 126,937,075 (GRCm39) |
V176A |
probably damaging |
Het |
Casp2 |
G |
A |
6: 42,244,828 (GRCm39) |
A76T |
probably damaging |
Het |
Ccdc88c |
A |
G |
12: 100,911,332 (GRCm39) |
L34P |
probably damaging |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Col6a2 |
T |
A |
10: 76,442,003 (GRCm39) |
|
probably null |
Het |
Cse1l |
T |
C |
2: 166,783,970 (GRCm39) |
Y488H |
probably benign |
Het |
Dip2c |
G |
T |
13: 9,687,137 (GRCm39) |
G1254C |
probably damaging |
Het |
Dnajb12 |
T |
A |
10: 59,730,136 (GRCm39) |
S270R |
possibly damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Dscaml1 |
G |
A |
9: 45,643,366 (GRCm39) |
A1262T |
probably benign |
Het |
Dtwd2 |
A |
C |
18: 49,831,373 (GRCm39) |
|
probably benign |
Het |
Fadd |
C |
A |
7: 144,134,488 (GRCm39) |
K132N |
possibly damaging |
Het |
Fndc3c1 |
T |
C |
X: 105,487,897 (GRCm39) |
N462S |
probably benign |
Het |
Fzd3 |
A |
G |
14: 65,472,616 (GRCm39) |
V384A |
probably benign |
Het |
Gm6370 |
T |
C |
5: 146,430,702 (GRCm39) |
S296P |
probably benign |
Het |
Gsdmc |
T |
A |
15: 63,651,876 (GRCm39) |
H245L |
probably benign |
Het |
H13 |
T |
C |
2: 152,523,029 (GRCm39) |
I114T |
probably damaging |
Het |
Hhipl2 |
A |
G |
1: 183,204,920 (GRCm39) |
R78G |
probably benign |
Het |
Hrh3 |
C |
A |
2: 179,744,643 (GRCm39) |
R99L |
possibly damaging |
Het |
Ldc1 |
A |
T |
4: 130,112,967 (GRCm39) |
L143Q |
probably damaging |
Het |
Man2c1 |
A |
G |
9: 57,044,055 (GRCm39) |
N330S |
probably damaging |
Het |
Muc19 |
T |
A |
15: 91,781,816 (GRCm39) |
|
noncoding transcript |
Het |
Myh14 |
T |
G |
7: 44,277,974 (GRCm39) |
M1092L |
probably benign |
Het |
Neb |
A |
G |
2: 52,038,778 (GRCm39) |
I2899T |
probably benign |
Het |
Neb |
T |
A |
2: 52,134,137 (GRCm39) |
Q3282L |
probably damaging |
Het |
Nqo2 |
A |
T |
13: 34,163,620 (GRCm39) |
Q93L |
probably benign |
Het |
Or13a18 |
T |
A |
7: 140,190,178 (GRCm39) |
L33Q |
possibly damaging |
Het |
Or13a18 |
C |
A |
7: 140,190,177 (GRCm39) |
L33M |
probably benign |
Het |
Or4a2 |
C |
A |
2: 89,248,444 (GRCm39) |
L104F |
probably benign |
Het |
Or51i2 |
T |
C |
7: 103,689,609 (GRCm39) |
V202A |
probably damaging |
Het |
Pcsk1 |
A |
G |
13: 75,244,488 (GRCm39) |
N122S |
probably damaging |
Het |
Pdzrn4 |
A |
G |
15: 92,668,745 (GRCm39) |
I966V |
probably benign |
Het |
Phldb1 |
G |
A |
9: 44,627,128 (GRCm39) |
T439I |
possibly damaging |
Het |
Pign |
A |
G |
1: 105,481,540 (GRCm39) |
|
probably benign |
Het |
Ptpru |
A |
G |
4: 131,546,348 (GRCm39) |
Y301H |
probably damaging |
Het |
Raly |
C |
T |
2: 154,699,378 (GRCm39) |
Q61* |
probably null |
Het |
Rpl24 |
T |
C |
16: 55,791,723 (GRCm39) |
V148A |
probably benign |
Het |
S100a16 |
A |
G |
3: 90,449,379 (GRCm39) |
N18S |
probably damaging |
Het |
Sec31b |
G |
T |
19: 44,512,968 (GRCm39) |
T507N |
possibly damaging |
Het |
Sgca |
T |
C |
11: 94,863,396 (GRCm39) |
T27A |
possibly damaging |
Het |
Slc22a12 |
C |
A |
19: 6,590,658 (GRCm39) |
R203L |
probably damaging |
Het |
Ssbp3 |
C |
A |
4: 106,904,393 (GRCm39) |
|
probably benign |
Het |
Sucnr1 |
C |
G |
3: 59,994,215 (GRCm39) |
R248G |
probably damaging |
Het |
Tbr1 |
C |
T |
2: 61,642,076 (GRCm39) |
P184L |
probably benign |
Het |
Thsd7b |
A |
T |
1: 130,044,356 (GRCm39) |
D1112V |
probably benign |
Het |
Tnc |
A |
G |
4: 63,933,188 (GRCm39) |
V692A |
probably damaging |
Het |
Top2a |
C |
A |
11: 98,913,786 (GRCm39) |
K18N |
probably damaging |
Het |
Topbp1 |
G |
T |
9: 103,187,158 (GRCm39) |
R121L |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,025,629 (GRCm39) |
C339R |
probably damaging |
Het |
Wdfy3 |
C |
T |
5: 102,047,924 (GRCm39) |
|
probably null |
Het |
Zbtb3 |
G |
C |
19: 8,780,384 (GRCm39) |
|
probably benign |
Het |
Zfp715 |
T |
A |
7: 42,947,304 (GRCm39) |
K885N |
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 |
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 |
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'- GAAAGGTTCTGGAGCACTGTG -3'
(R):5'- TCCAGCTAACCCTGAAGACCTG -3'
Sequencing Primer
(F):5'- GAGCACTGTGGTCTCACCTTG -3'
(R):5'- CTGAAGACCTGCATACCTGG -3'
|
Posted On |
2015-12-28 |