Incidental Mutation 'R6277:Pkn3'
ID |
507692 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pkn3
|
Ensembl Gene |
ENSMUSG00000026785 |
Gene Name |
protein kinase N3 |
Synonyms |
|
MMRRC Submission |
044447-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6277 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
29967696-29981034 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 29972957 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 315
(G315D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045246]
[ENSMUST00000125346]
[ENSMUST00000150770]
|
AlphaFold |
Q8K045 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045246
AA Change: G315D
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000041025 Gene: ENSMUSG00000026785 AA Change: G315D
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 |
|
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
|
Meta Mutation Damage Score |
0.0712 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.2%
|
Validation Efficiency |
96% (70/73) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
G |
14: 32,385,651 (GRCm39) |
Y105H |
possibly damaging |
Het |
4921539E11Rik |
A |
T |
4: 103,088,668 (GRCm39) |
Y179* |
probably null |
Het |
Abca7 |
G |
C |
10: 79,841,992 (GRCm39) |
V1042L |
probably benign |
Het |
Adck5 |
C |
A |
15: 76,477,463 (GRCm39) |
T99K |
possibly damaging |
Het |
Adcy5 |
A |
G |
16: 35,109,896 (GRCm39) |
T823A |
probably benign |
Het |
Adra1d |
G |
T |
2: 131,403,083 (GRCm39) |
R336S |
probably damaging |
Het |
Arhgap39 |
A |
T |
15: 76,619,337 (GRCm39) |
M749K |
probably damaging |
Het |
Arid4a |
A |
G |
12: 71,086,665 (GRCm39) |
R168G |
possibly damaging |
Het |
Atxn10 |
A |
G |
15: 85,275,893 (GRCm39) |
T317A |
probably benign |
Het |
Bicc1 |
T |
C |
10: 70,863,731 (GRCm39) |
K22E |
possibly damaging |
Het |
Cacna1b |
T |
G |
2: 24,620,808 (GRCm39) |
T281P |
probably damaging |
Het |
Ccdc174 |
A |
T |
6: 91,857,272 (GRCm39) |
Q26L |
probably damaging |
Het |
Celf3 |
T |
C |
3: 94,392,672 (GRCm39) |
C124R |
probably damaging |
Het |
Cfap44 |
A |
G |
16: 44,257,669 (GRCm39) |
E1068G |
probably benign |
Het |
Crybg1 |
T |
A |
10: 43,873,255 (GRCm39) |
E1284D |
probably benign |
Het |
Dcbld2 |
T |
A |
16: 58,272,119 (GRCm39) |
Y392N |
probably damaging |
Het |
Dcbld2 |
C |
T |
16: 58,285,866 (GRCm39) |
P675L |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,492,439 (GRCm39) |
H1193L |
probably damaging |
Het |
Efcab3 |
G |
C |
11: 104,901,148 (GRCm39) |
E4422D |
possibly damaging |
Het |
Ern2 |
A |
G |
7: 121,785,330 (GRCm39) |
F16L |
probably benign |
Het |
Fam163b |
G |
T |
2: 27,002,763 (GRCm39) |
T78N |
probably benign |
Het |
Fbxw21 |
A |
T |
9: 108,974,623 (GRCm39) |
I299K |
possibly damaging |
Het |
Foxg1 |
A |
G |
12: 49,432,299 (GRCm39) |
N344S |
probably benign |
Het |
Git2 |
A |
G |
5: 114,871,308 (GRCm39) |
I202T |
probably damaging |
Het |
Gm11595 |
G |
T |
11: 99,663,510 (GRCm39) |
P57T |
unknown |
Het |
Gm12258 |
G |
A |
11: 58,745,113 (GRCm39) |
V15M |
probably damaging |
Het |
Gm15056 |
C |
T |
8: 21,390,914 (GRCm39) |
G40S |
probably damaging |
Het |
Gnal |
C |
A |
18: 67,346,143 (GRCm39) |
H274Q |
probably damaging |
Het |
Hormad2 |
A |
T |
11: 4,371,583 (GRCm39) |
|
probably null |
Het |
Ighv7-2 |
A |
G |
12: 113,876,087 (GRCm39) |
I6T |
probably benign |
Het |
Irf9 |
A |
G |
14: 55,845,109 (GRCm39) |
D323G |
probably benign |
Het |
Klhl23 |
G |
T |
2: 69,664,096 (GRCm39) |
D482Y |
probably damaging |
Het |
Lama4 |
A |
G |
10: 38,982,006 (GRCm39) |
N1745S |
probably damaging |
Het |
Lct |
T |
A |
1: 128,231,974 (GRCm39) |
Y625F |
probably benign |
Het |
Lrrc26 |
T |
C |
2: 25,180,116 (GRCm39) |
V39A |
probably benign |
Het |
Mllt6 |
G |
A |
11: 97,564,774 (GRCm39) |
A527T |
probably damaging |
Het |
Mrgprb4 |
T |
A |
7: 47,848,649 (GRCm39) |
D93V |
probably benign |
Het |
Nlrp5 |
A |
G |
7: 23,120,880 (GRCm39) |
D698G |
probably damaging |
Het |
Or13p10 |
T |
A |
4: 118,523,520 (GRCm39) |
S269T |
probably benign |
Het |
Pacsin1 |
T |
A |
17: 27,924,969 (GRCm39) |
|
probably null |
Het |
Padi3 |
A |
T |
4: 140,518,472 (GRCm39) |
|
probably null |
Het |
Pcdha8 |
T |
C |
18: 37,127,411 (GRCm39) |
I631T |
probably damaging |
Het |
Ppfibp1 |
T |
A |
6: 146,907,422 (GRCm39) |
D228E |
probably benign |
Het |
Prag1 |
G |
T |
8: 36,613,745 (GRCm39) |
R1099L |
probably damaging |
Het |
Pramel31 |
A |
G |
4: 144,090,223 (GRCm39) |
E421G |
probably damaging |
Het |
Prr36 |
A |
G |
8: 4,264,746 (GRCm39) |
|
probably benign |
Het |
Prrc2c |
A |
G |
1: 162,541,883 (GRCm39) |
S369P |
probably benign |
Het |
Ptprn2 |
A |
G |
12: 116,839,800 (GRCm39) |
D441G |
probably benign |
Het |
Slc9c1 |
G |
A |
16: 45,427,204 (GRCm39) |
|
probably benign |
Het |
Slit1 |
G |
A |
19: 41,588,948 (GRCm39) |
T1513I |
possibly damaging |
Het |
Smcr8 |
C |
T |
11: 60,669,635 (GRCm39) |
T261M |
probably benign |
Het |
Spata17 |
G |
A |
1: 186,926,151 (GRCm39) |
R60* |
probably null |
Het |
Speer4f1 |
A |
G |
5: 17,681,241 (GRCm39) |
R40G |
probably damaging |
Het |
Spns3 |
A |
G |
11: 72,420,466 (GRCm39) |
V340A |
possibly damaging |
Het |
Srgap3 |
T |
C |
6: 112,716,344 (GRCm39) |
I595V |
probably benign |
Het |
Srms |
G |
A |
2: 180,848,038 (GRCm39) |
A489V |
possibly damaging |
Het |
St3gal4 |
T |
C |
9: 34,964,558 (GRCm39) |
N169S |
probably damaging |
Het |
Taar5 |
T |
A |
10: 23,847,169 (GRCm39) |
V189E |
probably damaging |
Het |
Tbc1d32 |
G |
A |
10: 56,071,525 (GRCm39) |
P333L |
probably benign |
Het |
Tet3 |
G |
T |
6: 83,345,066 (GRCm39) |
Y1790* |
probably null |
Het |
Ticrr |
T |
A |
7: 79,344,444 (GRCm39) |
H1436Q |
probably benign |
Het |
Top6bl |
G |
T |
19: 4,677,250 (GRCm39) |
S466* |
probably null |
Het |
Ubl7 |
C |
T |
9: 57,830,555 (GRCm39) |
L334F |
possibly damaging |
Het |
Unc13a |
A |
G |
8: 72,119,283 (GRCm39) |
|
probably null |
Het |
Unc13c |
T |
C |
9: 73,606,451 (GRCm39) |
D1303G |
probably damaging |
Het |
Vmn2r114 |
A |
G |
17: 23,509,954 (GRCm39) |
L842P |
possibly damaging |
Het |
Vps35 |
G |
T |
8: 85,987,857 (GRCm39) |
Q765K |
possibly damaging |
Het |
Zfp87 |
G |
T |
13: 74,520,643 (GRCm39) |
S145* |
probably null |
Het |
Zgrf1 |
C |
T |
3: 127,392,461 (GRCm39) |
A1327V |
possibly damaging |
Het |
Zkscan6 |
T |
A |
11: 65,718,983 (GRCm39) |
S334R |
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 |
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 |
|
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'- TTAGATCGGCTGCTCCTAGC -3'
(R):5'- GGATTTCTCAGCCACCAGTC -3'
Sequencing Primer
(F):5'- TAGCTCTGACCCTCCTAGAGCAG -3'
(R):5'- AGTCCCCATCCTGTCTGG -3'
|
Posted On |
2018-03-15 |