Incidental Mutation 'R5488:Pkn3'
| ID |
430443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkn3
|
| Ensembl Gene |
ENSMUSG00000026785 |
| Gene Name |
protein kinase N3 |
| Synonyms |
|
| MMRRC Submission |
043049-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5488 (G1)
|
| Quality Score |
225 |
|
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 29978596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045246]
[ENSMUST00000081838]
[ENSMUST00000102865]
|
| 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 benign
Transcript: ENSMUST00000081838
|
| SMART Domains |
Protein: ENSMUSP00000080521
Gene: ENSMUSG00000015335
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
58 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
106 |
232 |
1.9e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102865
|
| SMART Domains |
Protein: ENSMUSP00000099929
Gene: ENSMUSG00000015335
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
58 |
218 |
1.1e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134591
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137001
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137240
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148650
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156197
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148717
|
| Meta Mutation Damage Score |
0.9493 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 90.5%
|
| Validation Efficiency |
97% (58/60) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
A |
7: 119,851,473 (GRCm39) |
V817D |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,183,009 (GRCm39) |
V1016A |
probably benign |
Het |
| Ano2 |
G |
T |
6: 126,016,216 (GRCm39) |
M916I |
possibly damaging |
Het |
| Aqr |
T |
C |
2: 113,963,554 (GRCm39) |
N632S |
probably damaging |
Het |
| Cd48 |
G |
A |
1: 171,523,273 (GRCm39) |
V39I |
possibly damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,848,324 (GRCm39) |
D710G |
probably damaging |
Het |
| Cdk17 |
A |
G |
10: 93,068,274 (GRCm39) |
T344A |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,450,505 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
A |
T |
8: 11,362,550 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
G |
A |
2: 180,258,318 (GRCm39) |
R579H |
probably damaging |
Het |
| Cripto |
G |
A |
9: 110,772,265 (GRCm39) |
R44C |
probably benign |
Het |
| Cyp2c69 |
T |
G |
19: 39,839,603 (GRCm39) |
Q340P |
probably null |
Het |
| D630003M21Rik |
T |
A |
2: 158,058,941 (GRCm39) |
T320S |
probably benign |
Het |
| D630045J12Rik |
A |
T |
6: 38,173,782 (GRCm39) |
S129T |
possibly damaging |
Het |
| Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
| Fam13a |
A |
T |
6: 59,001,303 (GRCm39) |
L8Q |
probably null |
Het |
| Fam83b |
T |
C |
9: 76,452,881 (GRCm39) |
N62S |
probably benign |
Het |
| Foxred1 |
A |
T |
9: 35,121,266 (GRCm39) |
V94E |
probably damaging |
Het |
| Gprc5a |
T |
C |
6: 135,055,868 (GRCm39) |
V105A |
probably damaging |
Het |
| Gvin3 |
T |
A |
7: 106,200,797 (GRCm39) |
|
noncoding transcript |
Het |
| Itga2 |
A |
T |
13: 114,979,971 (GRCm39) |
W1077R |
probably damaging |
Het |
| Kat6b |
A |
G |
14: 21,719,332 (GRCm39) |
D1228G |
probably damaging |
Het |
| Kctd3 |
A |
G |
1: 188,713,563 (GRCm39) |
Y391H |
probably damaging |
Het |
| Kdelr2 |
T |
A |
5: 143,389,784 (GRCm39) |
I23N |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,752,335 (GRCm39) |
|
probably benign |
Het |
| Lao1 |
A |
G |
4: 118,824,566 (GRCm39) |
E216G |
probably damaging |
Het |
| Mark4 |
G |
T |
7: 19,163,532 (GRCm39) |
|
probably null |
Het |
| Mcm10 |
A |
G |
2: 4,996,929 (GRCm39) |
W851R |
probably damaging |
Het |
| Mettl21e |
T |
C |
1: 44,257,276 (GRCm39) |
Y14C |
probably benign |
Het |
| Miga1 |
CACAACAACAACAACAACA |
CACAACAACAACAACA |
3: 152,039,083 (GRCm39) |
|
probably benign |
Het |
| Mmp20 |
A |
G |
9: 7,643,958 (GRCm39) |
|
probably null |
Het |
| Nlrp5 |
A |
T |
7: 23,117,359 (GRCm39) |
D361V |
probably benign |
Het |
| Nrip3 |
T |
C |
7: 109,361,045 (GRCm39) |
T210A |
probably damaging |
Het |
| Or12d2 |
T |
C |
17: 37,624,559 (GRCm39) |
T239A |
probably damaging |
Het |
| Or52s1b |
T |
C |
7: 102,822,658 (GRCm39) |
Y62C |
probably damaging |
Het |
| Pcdh10 |
G |
A |
3: 45,335,803 (GRCm39) |
G706S |
probably damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,382,762 (GRCm39) |
P1197L |
probably benign |
Het |
| Pfkfb3 |
T |
C |
2: 11,489,480 (GRCm39) |
S273G |
probably benign |
Het |
| Rab40c |
G |
A |
17: 26,109,643 (GRCm39) |
T78I |
probably damaging |
Het |
| Rec8 |
A |
T |
14: 55,860,283 (GRCm39) |
Q291L |
probably benign |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sart3 |
A |
G |
5: 113,909,441 (GRCm39) |
W86R |
probably damaging |
Het |
| Slc6a11 |
A |
G |
6: 114,220,855 (GRCm39) |
D462G |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,934,946 (GRCm39) |
T143A |
probably benign |
Het |
| Tardbp |
A |
G |
4: 148,703,097 (GRCm39) |
F289S |
probably benign |
Het |
| Tdpoz1 |
T |
A |
3: 93,577,974 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Tmem117 |
ACCC |
ACC |
15: 94,992,698 (GRCm39) |
|
probably null |
Het |
| Trim43a |
A |
T |
9: 88,464,229 (GRCm39) |
I47F |
probably damaging |
Het |
| Vim |
A |
T |
2: 13,580,392 (GRCm39) |
T202S |
probably benign |
Het |
| Vps13b |
A |
T |
15: 35,770,688 (GRCm39) |
I2044L |
probably benign |
Het |
| Wdr5 |
T |
G |
2: 27,415,165 (GRCm39) |
D192E |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,193,712 (GRCm39) |
K1176E |
possibly damaging |
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 |
|
R1510:Pkn3
|
UTSW |
2 |
29,969,776 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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'- CCATAGCTGAGCACAGGAAG -3'
(R):5'- AAAGTCTGCAATCTTGAGGAAACC -3'
Sequencing Primer
(F):5'- CAAGACTGGAATATTTTGGGCTTCTC -3'
(R):5'- ATCTTGAGGAAACCCTGGGCATC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation