Incidental Mutation 'R0370:Pkn3'
ID |
30412 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pkn3
|
Ensembl Gene |
ENSMUSG00000026785 |
Gene Name |
protein kinase N3 |
Synonyms |
|
MMRRC Submission |
038576-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0370 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
29967696-29981034 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29977184 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 641
(H641Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045246]
[ENSMUST00000081838]
[ENSMUST00000102865]
|
AlphaFold |
Q8K045 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045246
AA Change: H641Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000041025 Gene: ENSMUSG00000026785 AA Change: H641Q
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: ENSMUST00000126838
|
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l1 |
T |
C |
8: 124,228,293 (GRCm39) |
S666P |
probably damaging |
Het |
B3gntl1 |
A |
T |
11: 121,514,980 (GRCm39) |
W263R |
probably damaging |
Het |
Carmil3 |
A |
G |
14: 55,732,899 (GRCm39) |
N270S |
possibly damaging |
Het |
Ctdp1 |
T |
C |
18: 80,492,569 (GRCm39) |
E642G |
probably damaging |
Het |
Cyp2b9 |
A |
T |
7: 25,909,531 (GRCm39) |
K433M |
probably damaging |
Het |
Dcc |
A |
G |
18: 71,721,056 (GRCm39) |
V435A |
possibly damaging |
Het |
Defa26 |
A |
T |
8: 22,108,875 (GRCm39) |
M87L |
probably benign |
Het |
Dnah11 |
T |
A |
12: 117,958,962 (GRCm39) |
I2974L |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,685,943 (GRCm39) |
D131G |
possibly damaging |
Het |
Dock6 |
A |
T |
9: 21,725,861 (GRCm39) |
S1447R |
probably benign |
Het |
Dtl |
G |
T |
1: 191,307,462 (GRCm39) |
N17K |
probably benign |
Het |
Grid2 |
A |
G |
6: 64,322,718 (GRCm39) |
I573V |
possibly damaging |
Het |
Hoxa9 |
T |
C |
6: 52,202,684 (GRCm39) |
E134G |
possibly damaging |
Het |
Kcnn3 |
A |
T |
3: 89,574,399 (GRCm39) |
N637I |
probably damaging |
Het |
Ktn1 |
T |
C |
14: 47,901,532 (GRCm39) |
F97L |
probably benign |
Het |
Lmbrd2 |
T |
C |
15: 9,165,939 (GRCm39) |
I271T |
probably damaging |
Het |
Lrp6 |
A |
C |
6: 134,456,729 (GRCm39) |
I845S |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,879,891 (GRCm39) |
N994K |
probably benign |
Het |
Mrrf |
A |
T |
2: 36,067,125 (GRCm39) |
|
probably null |
Het |
Mtmr1 |
G |
A |
X: 70,431,837 (GRCm39) |
V125I |
probably damaging |
Het |
Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
Or13g1 |
T |
A |
7: 85,956,057 (GRCm39) |
N88I |
probably benign |
Het |
Or51k1 |
T |
G |
7: 103,661,266 (GRCm39) |
L214F |
probably damaging |
Het |
Or8k3 |
A |
T |
2: 86,059,057 (GRCm39) |
V86D |
probably damaging |
Het |
Paxip1 |
C |
A |
5: 27,965,084 (GRCm39) |
V659F |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,571,104 (GRCm39) |
V163A |
probably damaging |
Het |
Plekhg6 |
G |
A |
6: 125,347,623 (GRCm39) |
R444C |
probably damaging |
Het |
Rfx2 |
T |
C |
17: 57,106,308 (GRCm39) |
E175G |
probably benign |
Het |
Samd9l |
A |
C |
6: 3,377,264 (GRCm39) |
|
probably benign |
Het |
Sec14l5 |
A |
T |
16: 4,998,570 (GRCm39) |
T537S |
probably damaging |
Het |
Serpinb9d |
A |
G |
13: 33,379,949 (GRCm39) |
E96G |
probably damaging |
Het |
Setd4 |
T |
C |
16: 93,388,006 (GRCm39) |
E160G |
probably damaging |
Het |
Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
Slc16a4 |
A |
G |
3: 107,208,413 (GRCm39) |
I308V |
possibly damaging |
Het |
Slco2b1 |
T |
A |
7: 99,339,644 (GRCm39) |
N100Y |
probably damaging |
Het |
Sptbn1 |
A |
T |
11: 30,071,545 (GRCm39) |
S1475R |
probably benign |
Het |
Tecta |
T |
C |
9: 42,278,100 (GRCm39) |
D1136G |
probably benign |
Het |
Tmem94 |
G |
C |
11: 115,679,543 (GRCm39) |
R273S |
probably damaging |
Het |
Tns3 |
A |
G |
11: 8,395,730 (GRCm39) |
S1225P |
possibly damaging |
Het |
Ugt2b36 |
A |
G |
5: 87,239,834 (GRCm39) |
Y184H |
probably benign |
Het |
Vmn2r59 |
A |
T |
7: 41,662,150 (GRCm39) |
M555K |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTGTGAACCATCAACTTGCCTCC -3'
(R):5'- CCACGGCTATGCAAATGAAGTCCTC -3'
Sequencing Primer
(F):5'- CCAGCCAGAGGTGTTGTATG -3'
(R):5'- GCAAATGAAGTCCTCATGTGTTG -3'
|
Posted On |
2013-04-24 |