Incidental Mutation 'IGL02996:Pkn3'
ID |
407151 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pkn3
|
Ensembl Gene |
ENSMUSG00000026785 |
Gene Name |
protein kinase N3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02996
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
29967696-29981034 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29970627 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 148
(D148G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120268
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045246]
[ENSMUST00000125346]
[ENSMUST00000150770]
|
AlphaFold |
Q8K045 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045246
AA Change: D144G
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000041025 Gene: ENSMUSG00000026785 AA Change: D144G
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: ENSMUST00000125346
AA Change: D148G
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000120268 Gene: ENSMUSG00000026785 AA Change: D148G
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 benign
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
B4galnt1 |
C |
T |
10: 127,002,872 (GRCm39) |
R130W |
probably damaging |
Het |
Cd200r3 |
T |
C |
16: 44,774,680 (GRCm39) |
L231P |
probably damaging |
Het |
Cd200r4 |
C |
A |
16: 44,653,396 (GRCm39) |
N55K |
probably benign |
Het |
Cyb561d1 |
C |
T |
3: 108,106,961 (GRCm39) |
R86Q |
probably damaging |
Het |
Dst |
T |
C |
1: 34,227,479 (GRCm39) |
S1869P |
possibly damaging |
Het |
Dusp6 |
T |
C |
10: 99,100,628 (GRCm39) |
V208A |
possibly damaging |
Het |
Dync2h1 |
A |
T |
9: 6,935,279 (GRCm39) |
V4248E |
probably damaging |
Het |
Exoc6b |
T |
A |
6: 84,885,195 (GRCm39) |
D248V |
probably benign |
Het |
Fat4 |
A |
C |
3: 39,012,674 (GRCm39) |
D2323A |
probably damaging |
Het |
Fbxo6 |
T |
C |
4: 148,231,348 (GRCm39) |
Y144C |
probably damaging |
Het |
Gm7334 |
C |
A |
17: 51,006,084 (GRCm39) |
N123K |
possibly damaging |
Het |
Large2 |
T |
C |
2: 92,196,273 (GRCm39) |
H518R |
possibly damaging |
Het |
Marchf4 |
G |
A |
1: 72,468,058 (GRCm39) |
Q325* |
probably null |
Het |
Mccc2 |
C |
A |
13: 100,097,487 (GRCm39) |
|
probably benign |
Het |
Mical3 |
T |
C |
6: 120,935,519 (GRCm39) |
D1669G |
probably damaging |
Het |
Mkrn2 |
T |
C |
6: 115,588,868 (GRCm39) |
F204L |
probably benign |
Het |
Or1p1 |
T |
C |
11: 74,179,991 (GRCm39) |
V173A |
probably benign |
Het |
Or8g26 |
A |
G |
9: 39,096,361 (GRCm39) |
R293G |
probably damaging |
Het |
Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
Rwdd1 |
G |
T |
10: 33,878,512 (GRCm39) |
Q108K |
probably damaging |
Het |
Senp3 |
T |
C |
11: 69,565,086 (GRCm39) |
E496G |
probably damaging |
Het |
St6gal1 |
T |
A |
16: 23,139,904 (GRCm39) |
V25E |
probably damaging |
Het |
Syt4 |
T |
C |
18: 31,577,199 (GRCm39) |
K52E |
probably damaging |
Het |
Tap1 |
C |
A |
17: 34,410,370 (GRCm39) |
A349E |
probably damaging |
Het |
Tfr2 |
T |
A |
5: 137,581,728 (GRCm39) |
M605K |
probably benign |
Het |
Tmem192 |
A |
G |
8: 65,421,442 (GRCm39) |
|
probably null |
Het |
Trf |
T |
C |
9: 103,098,102 (GRCm39) |
E52G |
probably benign |
Het |
Ttn |
A |
G |
2: 76,556,531 (GRCm39) |
V30158A |
probably damaging |
Het |
Unc5a |
A |
G |
13: 55,143,991 (GRCm39) |
E152G |
probably damaging |
Het |
Vmn2r57 |
T |
A |
7: 41,049,165 (GRCm39) |
K861N |
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 |
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 |
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 |
|
|
Posted On |
2016-08-02 |