Incidental Mutation 'R1510:Pkn3'
| ID |
167822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkn3
|
| Ensembl Gene |
ENSMUSG00000026785 |
| Gene Name |
protein kinase N3 |
| Synonyms |
|
| MMRRC Submission |
039557-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1510 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29967696-29981034 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 29969776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045246]
[ENSMUST00000125346]
[ENSMUST00000125346]
[ENSMUST00000150770]
[ENSMUST00000150770]
|
| AlphaFold |
Q8K045 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045246
|
| SMART Domains |
Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
15 |
78 |
3.45e-17 |
SMART |
|
Hr1
|
98 |
166 |
6.19e-19 |
SMART |
|
Hr1
|
171 |
239 |
3.32e-19 |
SMART |
|
low complexity region
|
528 |
537 |
N/A |
INTRINSIC |
|
S_TKc
|
548 |
807 |
2.52e-93 |
SMART |
|
S_TK_X
|
808 |
872 |
9.58e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000125346
|
| SMART Domains |
Protein: ENSMUSP00000120268
Gene: ENSMUSG00000026785
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
19 |
82 |
3.45e-17 |
SMART |
|
Hr1
|
102 |
170 |
6.19e-19 |
SMART |
|
Hr1
|
175 |
238 |
6.4e-12 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000125346
|
| SMART Domains |
Protein: ENSMUSP00000120268
Gene: ENSMUSG00000026785
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
19 |
82 |
3.45e-17 |
SMART |
|
Hr1
|
102 |
170 |
6.19e-19 |
SMART |
|
Hr1
|
175 |
238 |
6.4e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126838
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134591
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137240
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148650
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000150770
|
| SMART Domains |
Protein: ENSMUSP00000114492
Gene: ENSMUSG00000026785
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
28 |
91 |
3.45e-17 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000150770
|
| SMART Domains |
Protein: ENSMUSP00000114492
Gene: ENSMUSG00000026785
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
28 |
91 |
3.45e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156197
|
| Meta Mutation Damage Score |
0.9494 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| Validation Efficiency |
100% (79/79) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation are viable, fertile and healthy. Mice with conditional loss of this gene and Pten in hematopoietic cells show a delay in leukemia development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
G |
15: 91,073,181 (GRCm39) |
L326S |
probably damaging |
Het |
| Adam18 |
T |
A |
8: 25,115,847 (GRCm39) |
T616S |
probably benign |
Het |
| Adam22 |
T |
C |
5: 8,202,408 (GRCm39) |
K215E |
probably benign |
Het |
| Ahi1 |
T |
G |
10: 20,835,699 (GRCm39) |
S11A |
probably benign |
Het |
| Asb18 |
T |
C |
1: 89,923,976 (GRCm39) |
M96V |
possibly damaging |
Het |
| Baz2b |
T |
C |
2: 59,752,553 (GRCm39) |
D1149G |
probably damaging |
Het |
| C1qtnf3 |
A |
G |
15: 10,975,722 (GRCm39) |
E176G |
probably benign |
Het |
| Cd151 |
T |
A |
7: 141,050,280 (GRCm39) |
S172T |
probably benign |
Het |
| Cdh2 |
G |
T |
18: 16,781,651 (GRCm39) |
L90I |
probably benign |
Het |
| Cdkl3 |
T |
C |
11: 51,924,341 (GRCm39) |
V55A |
possibly damaging |
Het |
| Cfap90 |
T |
A |
13: 68,745,596 (GRCm39) |
M1K |
probably null |
Het |
| Chst8 |
T |
A |
7: 34,374,693 (GRCm39) |
H382L |
probably benign |
Het |
| Cyb5r4 |
T |
C |
9: 86,948,696 (GRCm39) |
|
probably benign |
Het |
| Cyp2j13 |
T |
C |
4: 95,950,209 (GRCm39) |
D264G |
possibly damaging |
Het |
| Daam1 |
A |
G |
12: 72,024,500 (GRCm39) |
M814V |
probably damaging |
Het |
| Ddx19b |
A |
G |
8: 111,742,285 (GRCm39) |
I150T |
probably damaging |
Het |
| Dync1li1 |
T |
G |
9: 114,518,278 (GRCm39) |
S50A |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 15,871,351 (GRCm39) |
L3680Q |
probably damaging |
Het |
| Fermt1 |
C |
T |
2: 132,766,942 (GRCm39) |
E342K |
probably benign |
Het |
| Gm21286 |
T |
G |
4: 60,794,931 (GRCm39) |
|
noncoding transcript |
Het |
| Il6 |
T |
C |
5: 30,223,060 (GRCm39) |
Y126H |
probably damaging |
Het |
| Inhba |
G |
T |
13: 16,201,607 (GRCm39) |
V390L |
probably damaging |
Het |
| Ino80 |
C |
T |
2: 119,280,530 (GRCm39) |
R278H |
probably damaging |
Het |
| Jade3 |
T |
G |
X: 20,384,057 (GRCm39) |
N799K |
probably benign |
Het |
| Kcnn1 |
G |
A |
8: 71,316,714 (GRCm39) |
|
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,765,848 (GRCm39) |
T585A |
probably damaging |
Het |
| Kmt2d |
T |
A |
15: 98,754,258 (GRCm39) |
|
probably benign |
Het |
| Krt17 |
C |
T |
11: 100,148,365 (GRCm39) |
E359K |
possibly damaging |
Het |
| Lce1b |
T |
G |
3: 92,563,283 (GRCm39) |
R83S |
unknown |
Het |
| Lck |
T |
C |
4: 129,449,461 (GRCm39) |
S290G |
possibly damaging |
Het |
| Ltbp3 |
T |
C |
19: 5,798,915 (GRCm39) |
S544P |
probably benign |
Het |
| Lypd6b |
T |
A |
2: 49,824,831 (GRCm39) |
S4R |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,328,555 (GRCm39) |
D4724G |
probably null |
Het |
| Mcoln2 |
A |
G |
3: 145,882,365 (GRCm39) |
T255A |
probably benign |
Het |
| Mcph1 |
T |
A |
8: 18,682,703 (GRCm39) |
|
probably null |
Het |
| Mki67 |
C |
A |
7: 135,297,900 (GRCm39) |
R2378L |
probably benign |
Het |
| Mxd1 |
A |
G |
6: 86,630,137 (GRCm39) |
V27A |
possibly damaging |
Het |
| Myo5a |
T |
C |
9: 75,078,833 (GRCm39) |
Y864H |
probably benign |
Het |
| Ndel1 |
A |
T |
11: 68,713,482 (GRCm39) |
N318K |
possibly damaging |
Het |
| Oasl1 |
A |
G |
5: 115,066,167 (GRCm39) |
Q95R |
probably benign |
Het |
| Or5ac16 |
A |
T |
16: 59,022,546 (GRCm39) |
M81K |
probably damaging |
Het |
| Or5j3 |
T |
C |
2: 86,128,715 (GRCm39) |
L185P |
probably damaging |
Het |
| Or5p57 |
T |
C |
7: 107,665,735 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or6b2b |
A |
T |
1: 92,419,339 (GRCm39) |
I46N |
probably damaging |
Het |
| Parp10 |
T |
A |
15: 76,125,617 (GRCm39) |
Q487L |
probably damaging |
Het |
| Pcdh10 |
C |
T |
3: 45,333,838 (GRCm39) |
R51C |
probably damaging |
Het |
| Pdpr |
A |
T |
8: 111,851,107 (GRCm39) |
|
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,060 (GRCm39) |
D437V |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 115,987,280 (GRCm39) |
T547I |
probably benign |
Het |
| Pkdrej |
A |
C |
15: 85,700,963 (GRCm39) |
S1658A |
possibly damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,867,004 (GRCm39) |
|
probably null |
Het |
| Plxdc1 |
A |
T |
11: 97,823,150 (GRCm39) |
C357S |
probably damaging |
Het |
| Pnp |
A |
G |
14: 51,188,042 (GRCm39) |
T132A |
possibly damaging |
Het |
| Prorp |
A |
T |
12: 55,350,997 (GRCm39) |
Q102L |
probably benign |
Het |
| Rcan2 |
A |
G |
17: 44,147,315 (GRCm39) |
D51G |
probably damaging |
Het |
| Rcn1 |
T |
C |
2: 105,219,434 (GRCm39) |
N253S |
probably damaging |
Het |
| Rreb1 |
T |
A |
13: 38,115,860 (GRCm39) |
I1073N |
probably benign |
Het |
| Scaf4 |
G |
T |
16: 90,042,282 (GRCm39) |
D686E |
unknown |
Het |
| Sfxn5 |
A |
C |
6: 85,213,907 (GRCm39) |
M221R |
probably damaging |
Het |
| Slc38a1 |
A |
G |
15: 96,507,741 (GRCm39) |
F104L |
probably damaging |
Het |
| Slc8a1 |
A |
T |
17: 81,955,547 (GRCm39) |
V497D |
probably damaging |
Het |
| Spryd3 |
C |
A |
15: 102,027,396 (GRCm39) |
G290C |
probably damaging |
Het |
| Stc2 |
A |
T |
11: 31,315,418 (GRCm39) |
Y140* |
probably null |
Het |
| Stfa2 |
A |
T |
16: 36,228,673 (GRCm39) |
I8K |
possibly damaging |
Het |
| Sult3a2 |
A |
T |
10: 33,658,026 (GRCm39) |
M29K |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Triobp |
G |
A |
15: 78,887,967 (GRCm39) |
R1908Q |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,802,828 (GRCm39) |
R7* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,782,501 (GRCm39) |
I912V |
probably benign |
Het |
| Tusc2 |
T |
A |
9: 107,442,080 (GRCm39) |
V93E |
probably damaging |
Het |
| Uhrf2 |
T |
A |
19: 30,016,461 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
G |
A |
17: 31,178,203 (GRCm39) |
V60M |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,380,501 (GRCm39) |
D2270V |
probably damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,005,553 (GRCm39) |
T397A |
possibly damaging |
Het |
| Wbp2 |
A |
G |
11: 115,977,708 (GRCm39) |
V15A |
probably benign |
Het |
| Zfp182 |
T |
A |
X: 20,896,446 (GRCm39) |
R617W |
probably damaging |
Het |
| Zfp82 |
C |
A |
7: 29,756,047 (GRCm39) |
R345L |
probably damaging |
Het |
| Zfp85 |
T |
C |
13: 67,903,084 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pkn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Pkn3
|
APN |
2 |
29,971,116 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00781:Pkn3
|
APN |
2 |
29,973,402 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00815:Pkn3
|
APN |
2 |
29,971,212 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01576:Pkn3
|
APN |
2 |
29,977,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01897:Pkn3
|
APN |
2 |
29,972,824 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02513:Pkn3
|
APN |
2 |
29,973,149 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02552:Pkn3
|
APN |
2 |
29,970,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02622:Pkn3
|
APN |
2 |
29,973,158 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02689:Pkn3
|
APN |
2 |
29,970,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02996:Pkn3
|
APN |
2 |
29,970,627 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL03106:Pkn3
|
APN |
2 |
29,975,257 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Enflamme
|
UTSW |
2 |
29,973,049 (GRCm39) |
unclassified |
probably benign |
|
|
Wrath
|
UTSW |
2 |
29,978,596 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4151001:Pkn3
|
UTSW |
2 |
29,980,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0279:Pkn3
|
UTSW |
2 |
29,973,309 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0370:Pkn3
|
UTSW |
2 |
29,977,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0491:Pkn3
|
UTSW |
2 |
29,979,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Pkn3
|
UTSW |
2 |
29,971,146 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1418:Pkn3
|
UTSW |
2 |
29,973,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1535:Pkn3
|
UTSW |
2 |
29,977,065 (GRCm39) |
missense |
probably benign |
|
|
R1540:Pkn3
|
UTSW |
2 |
29,974,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1808:Pkn3
|
UTSW |
2 |
29,969,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1884:Pkn3
|
UTSW |
2 |
29,972,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1995:Pkn3
|
UTSW |
2 |
29,979,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3745:Pkn3
|
UTSW |
2 |
29,980,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4119:Pkn3
|
UTSW |
2 |
29,973,049 (GRCm39) |
unclassified |
probably benign |
|
|
R4258:Pkn3
|
UTSW |
2 |
29,978,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4665:Pkn3
|
UTSW |
2 |
29,975,469 (GRCm39) |
unclassified |
probably benign |
|
|
R4772:Pkn3
|
UTSW |
2 |
29,974,692 (GRCm39) |
splice site |
probably null |
|
|
R4808:Pkn3
|
UTSW |
2 |
29,980,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5038:Pkn3
|
UTSW |
2 |
29,975,293 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5388:Pkn3
|
UTSW |
2 |
29,971,086 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5488:Pkn3
|
UTSW |
2 |
29,978,596 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5611:Pkn3
|
UTSW |
2 |
29,969,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6001:Pkn3
|
UTSW |
2 |
29,978,596 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6277:Pkn3
|
UTSW |
2 |
29,972,957 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6562:Pkn3
|
UTSW |
2 |
29,970,699 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6724:Pkn3
|
UTSW |
2 |
29,980,562 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7061:Pkn3
|
UTSW |
2 |
29,973,548 (GRCm39) |
splice site |
probably null |
|
|
R7128:Pkn3
|
UTSW |
2 |
29,973,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7249:Pkn3
|
UTSW |
2 |
29,974,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7475:Pkn3
|
UTSW |
2 |
29,977,122 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7746:Pkn3
|
UTSW |
2 |
29,980,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7747:Pkn3
|
UTSW |
2 |
29,980,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7783:Pkn3
|
UTSW |
2 |
29,969,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8401:Pkn3
|
UTSW |
2 |
29,970,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8425:Pkn3
|
UTSW |
2 |
29,976,513 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8535:Pkn3
|
UTSW |
2 |
29,969,936 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8720:Pkn3
|
UTSW |
2 |
29,975,196 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8743:Pkn3
|
UTSW |
2 |
29,973,318 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9415:Pkn3
|
UTSW |
2 |
29,968,332 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9437:Pkn3
|
UTSW |
2 |
29,973,267 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9583:Pkn3
|
UTSW |
2 |
29,976,723 (GRCm39) |
missense |
probably null |
0.99 |
|
R9800:Pkn3
|
UTSW |
2 |
29,973,290 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTAAACCTCAGTACCCAGAAGGC -3'
(R):5'- TGCAACACAAGGCTAGAGTTCAGAC -3'
Sequencing Primer
(F):5'- CAGGGTAGGCTAAGACTTCTC -3'
(R):5'- TCAAAGCCAAGGCCAGGATT -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation