Incidental Mutation 'R2027:Pkn1'
| ID |
220808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkn1
|
| Ensembl Gene |
ENSMUSG00000057672 |
| Gene Name |
protein kinase N1 |
| Synonyms |
PAK1, Stk3, Pkn, Prkcl1, F730027O18Rik, PRK1 |
| MMRRC Submission |
040035-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2027 (G1)
|
| Quality Score |
221 |
|
Status
|
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: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (70/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
C |
9: 99,502,254 (GRCm39) |
V138A |
possibly damaging |
Het |
| Aatk |
A |
G |
11: 119,900,143 (GRCm39) |
S1291P |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,743,301 (GRCm39) |
V67M |
probably damaging |
Het |
| Apoa4 |
G |
A |
9: 46,154,298 (GRCm39) |
V300M |
probably damaging |
Het |
| Bcl2a1d |
A |
T |
9: 88,613,438 (GRCm39) |
V112E |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,102,110 (GRCm39) |
|
probably benign |
Het |
| Cabp2 |
T |
A |
19: 4,137,126 (GRCm39) |
M166K |
probably damaging |
Het |
| Camsap1 |
A |
G |
2: 25,828,538 (GRCm39) |
V1062A |
possibly damaging |
Het |
| Cap1 |
T |
G |
4: 122,756,686 (GRCm39) |
|
probably benign |
Het |
| Caprin2 |
A |
G |
6: 148,779,385 (GRCm39) |
Y141H |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,892,522 (GRCm39) |
Y181C |
probably damaging |
Het |
| Ccdc107 |
T |
C |
4: 43,495,874 (GRCm39) |
V259A |
probably benign |
Het |
| Ccn4 |
A |
G |
15: 66,789,258 (GRCm39) |
E248G |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,634,619 (GRCm39) |
|
probably benign |
Het |
| Cibar1 |
T |
A |
4: 12,171,216 (GRCm39) |
D79V |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,553,075 (GRCm39) |
|
probably null |
Het |
| Cuzd1 |
T |
C |
7: 130,921,820 (GRCm39) |
T61A |
possibly damaging |
Het |
| Dbp |
C |
A |
7: 45,357,700 (GRCm39) |
D89E |
probably benign |
Het |
| Dhps |
A |
T |
8: 85,799,240 (GRCm39) |
N140Y |
probably damaging |
Het |
| Dido1 |
A |
T |
2: 180,330,974 (GRCm39) |
L158* |
probably null |
Het |
| Dnah9 |
T |
G |
11: 65,846,164 (GRCm39) |
N2958T |
probably benign |
Het |
| Dpp8 |
T |
A |
9: 64,986,056 (GRCm39) |
Y849N |
probably damaging |
Het |
| Dsg2 |
A |
G |
18: 20,716,061 (GRCm39) |
|
probably benign |
Het |
| Efemp1 |
A |
T |
11: 28,864,696 (GRCm39) |
Y250F |
possibly damaging |
Het |
| Faxc |
T |
C |
4: 21,958,439 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
G |
T |
8: 81,421,966 (GRCm39) |
C2122F |
possibly damaging |
Het |
| Gan |
T |
C |
8: 117,914,238 (GRCm39) |
|
probably null |
Het |
| Gnl1 |
A |
G |
17: 36,293,850 (GRCm39) |
N274D |
probably benign |
Het |
| Hook3 |
T |
C |
8: 26,528,126 (GRCm39) |
E588G |
probably damaging |
Het |
| Itpr1 |
C |
A |
6: 108,363,814 (GRCm39) |
S812Y |
possibly damaging |
Het |
| Kbtbd3 |
C |
T |
9: 4,317,075 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
C |
T |
4: 123,265,711 (GRCm39) |
A4821T |
probably damaging |
Het |
| Mepe |
T |
C |
5: 104,474,957 (GRCm39) |
S13P |
possibly damaging |
Het |
| Msantd5f6 |
A |
G |
4: 73,321,295 (GRCm39) |
I154T |
possibly damaging |
Het |
| Myh11 |
A |
G |
16: 14,050,532 (GRCm39) |
Y478H |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,118,013 (GRCm39) |
V871A |
probably benign |
Het |
| Nckap1 |
A |
T |
2: 80,365,862 (GRCm39) |
M466K |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or4k6 |
A |
G |
14: 50,475,406 (GRCm39) |
I312T |
probably benign |
Het |
| Or52r1b |
A |
T |
7: 102,690,731 (GRCm39) |
H15L |
probably benign |
Het |
| Or5aq1b |
T |
A |
2: 86,901,897 (GRCm39) |
N194Y |
possibly damaging |
Het |
| Or5m13 |
A |
C |
2: 85,749,114 (GRCm39) |
S282R |
probably damaging |
Het |
| Or9k2 |
A |
G |
10: 129,998,604 (GRCm39) |
I197T |
probably benign |
Het |
| Or9s23 |
A |
T |
1: 92,501,489 (GRCm39) |
T199S |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,578,358 (GRCm39) |
T97A |
probably benign |
Het |
| Peli2 |
G |
A |
14: 48,493,602 (GRCm39) |
E275K |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,950,057 (GRCm39) |
Y1320C |
probably damaging |
Het |
| Pramel5 |
A |
G |
4: 143,998,274 (GRCm39) |
L323P |
probably damaging |
Het |
| Prr5 |
A |
T |
15: 84,585,580 (GRCm39) |
R183W |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rabgef1 |
A |
G |
5: 130,237,620 (GRCm39) |
D231G |
possibly damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rc3h1 |
C |
T |
1: 160,782,507 (GRCm39) |
P662L |
probably benign |
Het |
| Rpl7a-ps5 |
G |
T |
17: 58,146,090 (GRCm39) |
Q47K |
probably benign |
Het |
| Sclt1 |
G |
A |
3: 41,685,323 (GRCm39) |
T45I |
probably benign |
Het |
| Slc22a17 |
A |
G |
14: 55,145,543 (GRCm39) |
I202T |
probably damaging |
Het |
| Slc25a13 |
A |
G |
6: 6,073,487 (GRCm39) |
L457S |
probably damaging |
Het |
| Slc44a3 |
T |
C |
3: 121,257,059 (GRCm39) |
|
probably benign |
Het |
| Slc7a9 |
G |
A |
7: 35,153,562 (GRCm39) |
V188M |
probably damaging |
Het |
| Spata31d1e |
A |
G |
13: 59,890,401 (GRCm39) |
M55T |
possibly damaging |
Het |
| Tmem161a |
T |
A |
8: 70,630,170 (GRCm39) |
F119I |
probably damaging |
Het |
| Tmem240 |
A |
G |
4: 155,819,892 (GRCm39) |
D32G |
possibly damaging |
Het |
| Tmtc4 |
T |
C |
14: 123,158,677 (GRCm39) |
N682S |
probably benign |
Het |
| Uqcrc1 |
G |
A |
9: 108,776,083 (GRCm39) |
V262M |
probably benign |
Het |
| Vmn1r87 |
G |
A |
7: 12,865,823 (GRCm39) |
R155C |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,742,334 (GRCm39) |
Q236L |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,149,944 (GRCm39) |
I444N |
unknown |
Het |
| Yif1a |
A |
T |
19: 5,139,900 (GRCm39) |
H115L |
probably damaging |
Het |
| Zfp280b |
T |
C |
10: 75,874,328 (GRCm39) |
L69S |
probably damaging |
Het |
| Zfp579 |
C |
A |
7: 4,996,520 (GRCm39) |
E464* |
probably null |
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 |
|
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'- GCTCCAGATCATACTTCACGTG -3'
(R):5'- TCACCCTAGCAGCTTCAGAATAG -3'
Sequencing Primer
(F):5'- CCAGATCATACTTCACGTGGTAGG -3'
(R):5'- GCTTCAGAATAGTTCACCAGCTCTAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation