Incidental Mutation 'R8720:Pkn3'
| ID |
670055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkn3
|
| Ensembl Gene |
ENSMUSG00000026785 |
| Gene Name |
protein kinase N3 |
| Synonyms |
|
| MMRRC Submission |
068571-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29967696-29981034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29975196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 486
(N486D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045246]
[ENSMUST00000125346]
|
| AlphaFold |
Q8K045 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045246
AA Change: N486D
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: N486D
| 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
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a1 |
T |
C |
11: 61,104,305 (GRCm39) |
V64A |
probably benign |
Het |
| Anln |
T |
C |
9: 22,284,573 (GRCm39) |
H379R |
probably benign |
Het |
| Asb2 |
A |
G |
12: 103,291,680 (GRCm39) |
Y416H |
probably damaging |
Het |
| Atp2b4 |
TTCTTC |
TTCTTCGTCTTC |
1: 133,629,465 (GRCm39) |
|
probably benign |
Het |
| Chsy1 |
T |
A |
7: 65,821,088 (GRCm39) |
M441K |
possibly damaging |
Het |
| Cmas |
A |
G |
6: 142,716,929 (GRCm39) |
K274E |
probably damaging |
Het |
| Cmip |
A |
G |
8: 118,138,010 (GRCm39) |
Y75C |
probably damaging |
Het |
| Col17a1 |
T |
A |
19: 47,637,531 (GRCm39) |
|
probably benign |
Het |
| Col3a1 |
A |
G |
1: 45,386,893 (GRCm39) |
Y1368C |
unknown |
Het |
| Cracdl |
A |
G |
1: 37,652,522 (GRCm39) |
F1095S |
possibly damaging |
Het |
| Cspg4 |
C |
T |
9: 56,794,797 (GRCm39) |
T844I |
probably benign |
Het |
| Dnai7 |
G |
T |
6: 145,150,983 (GRCm39) |
R30S |
unknown |
Het |
| Ect2 |
A |
T |
3: 27,169,647 (GRCm39) |
N766K |
probably damaging |
Het |
| Fanci |
C |
A |
7: 79,089,425 (GRCm39) |
Q954K |
possibly damaging |
Het |
| Gm30083 |
A |
G |
14: 33,736,895 (GRCm39) |
S21P |
probably benign |
Het |
| Gulo |
C |
T |
14: 66,225,074 (GRCm39) |
E422K |
probably benign |
Het |
| Helq |
A |
G |
5: 100,914,561 (GRCm39) |
V977A |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,389,105 (GRCm39) |
D3874G |
probably benign |
Het |
| Hsf4 |
G |
T |
8: 105,996,605 (GRCm39) |
D34Y |
probably damaging |
Het |
| Il18 |
G |
A |
9: 50,476,684 (GRCm39) |
|
probably benign |
Het |
| Il22ra2 |
A |
T |
10: 19,508,599 (GRCm39) |
E209V |
probably damaging |
Het |
| Ino80 |
A |
T |
2: 119,232,868 (GRCm39) |
L1150Q |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,691,792 (GRCm39) |
F231L |
probably damaging |
Het |
| Krtap19-4 |
A |
G |
16: 88,681,846 (GRCm39) |
Y37H |
unknown |
Het |
| Lama4 |
A |
T |
10: 38,971,079 (GRCm39) |
D1548V |
probably damaging |
Het |
| Lrig2 |
C |
T |
3: 104,418,998 (GRCm39) |
A4T |
probably damaging |
Het |
| Lrp4 |
A |
T |
2: 91,324,459 (GRCm39) |
I1265F |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,552,896 (GRCm39) |
T4466S |
probably benign |
Het |
| Myo1e |
A |
G |
9: 70,204,570 (GRCm39) |
I57V |
possibly damaging |
Het |
| Naip2 |
A |
T |
13: 100,298,630 (GRCm39) |
Y469N |
probably benign |
Het |
| Nav1 |
G |
A |
1: 135,388,464 (GRCm39) |
R1065C |
unknown |
Het |
| Nps |
C |
T |
7: 134,874,045 (GRCm39) |
R72C |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,117,681 (GRCm39) |
V1796I |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,024,667 (GRCm39) |
K451E |
probably benign |
Het |
| Pigv |
A |
T |
4: 133,392,968 (GRCm39) |
D67E |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,243,688 (GRCm39) |
F928I |
probably benign |
Het |
| Ppp2r3d |
A |
G |
9: 101,089,084 (GRCm39) |
L413P |
probably damaging |
Het |
| Rbm45 |
G |
T |
2: 76,210,711 (GRCm39) |
R414L |
probably damaging |
Het |
| Sap30l |
A |
T |
11: 57,698,875 (GRCm39) |
N116I |
probably damaging |
Het |
| Slc17a5 |
A |
T |
9: 78,485,945 (GRCm39) |
F47I |
probably damaging |
Het |
| Slco1a7 |
A |
T |
6: 141,668,852 (GRCm39) |
S527T |
probably benign |
Het |
| Srbd1 |
A |
T |
17: 86,358,571 (GRCm39) |
D659E |
probably damaging |
Het |
| Sycp3 |
A |
G |
10: 88,298,394 (GRCm39) |
Q40R |
probably benign |
Het |
| Trip13 |
T |
C |
13: 74,063,590 (GRCm39) |
S374G |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,208,149 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,090,715 (GRCm39) |
V449I |
probably benign |
Het |
| Vmn1r211 |
A |
T |
13: 23,036,031 (GRCm39) |
V212D |
probably damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,792,194 (GRCm39) |
I21F |
possibly damaging |
Het |
| Zmiz2 |
A |
T |
11: 6,349,904 (GRCm39) |
I491F |
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 |
|
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 |
|
|
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'- ATGAACCTCAGCATGGCAGC -3'
(R):5'- GACAGATGGCTTCAGGACAG -3'
Sequencing Primer
(F):5'- CTGGTCATGAGCTTGCTGCC -3'
(R):5'- GCTTCAGGACAGCAGTTACTGAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation