Incidental Mutation 'R4258:Pkn3'
| ID |
321883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkn3
|
| Ensembl Gene |
ENSMUSG00000026785 |
| Gene Name |
protein kinase N3 |
| Synonyms |
|
| MMRRC Submission |
041071-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4258 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29967696-29981034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 29978572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 665
(H665Y)
|
| 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: H665Y
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: H665Y
| 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 |
0.7446 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (60/63) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415M13Rik |
T |
A |
17: 54,031,441 (GRCm39) |
|
noncoding transcript |
Het |
| Ank3 |
T |
C |
10: 69,840,592 (GRCm39) |
I984T |
probably benign |
Het |
| Arnt2 |
T |
C |
7: 83,960,163 (GRCm39) |
T204A |
probably damaging |
Het |
| Arsi |
T |
C |
18: 61,050,388 (GRCm39) |
W424R |
probably damaging |
Het |
| Aspg |
A |
T |
12: 112,087,687 (GRCm39) |
N346I |
probably benign |
Het |
| Brdt |
A |
G |
5: 107,507,775 (GRCm39) |
S668G |
probably damaging |
Het |
| Ccdc178 |
C |
T |
18: 22,150,392 (GRCm39) |
|
probably null |
Het |
| Cfap58 |
A |
T |
19: 47,937,923 (GRCm39) |
|
probably null |
Het |
| Chaf1a |
C |
A |
17: 56,363,474 (GRCm39) |
H319Q |
unknown |
Het |
| Colec12 |
T |
C |
18: 9,720,950 (GRCm39) |
S13P |
probably damaging |
Het |
| Cpne9 |
C |
T |
6: 113,259,984 (GRCm39) |
|
probably benign |
Het |
| Cyp2c65 |
A |
C |
19: 39,081,872 (GRCm39) |
D466A |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,928,248 (GRCm39) |
K266E |
probably damaging |
Het |
| Dennd1b |
G |
T |
1: 138,990,678 (GRCm39) |
R214L |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,818,854 (GRCm39) |
I1533V |
probably benign |
Het |
| Dynlt1a |
C |
T |
17: 6,361,184 (GRCm39) |
M102I |
probably benign |
Het |
| Edil3 |
G |
T |
13: 89,325,272 (GRCm39) |
L220F |
probably damaging |
Het |
| Eml5 |
A |
G |
12: 98,831,693 (GRCm39) |
Y383H |
probably benign |
Het |
| Epc1 |
T |
A |
18: 6,450,130 (GRCm39) |
T393S |
probably benign |
Het |
| Fbxo8 |
A |
T |
8: 57,041,076 (GRCm39) |
D164V |
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,284,841 (GRCm39) |
N16I |
probably damaging |
Het |
| Gdf6 |
G |
A |
4: 9,844,877 (GRCm39) |
V134I |
probably damaging |
Het |
| Gm5475 |
A |
G |
15: 100,322,117 (GRCm39) |
|
probably benign |
Het |
| Gm6430 |
T |
G |
1: 96,952,561 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv9-4 |
A |
T |
12: 114,263,765 (GRCm39) |
V56E |
probably damaging |
Het |
| Il3ra |
A |
T |
14: 14,347,961 (GRCm38) |
N36Y |
probably damaging |
Het |
| Kif7 |
G |
T |
7: 79,360,261 (GRCm39) |
C325* |
probably null |
Het |
| Lipo2 |
A |
T |
19: 33,708,328 (GRCm39) |
F229I |
possibly damaging |
Het |
| Lrba |
A |
G |
3: 86,352,656 (GRCm39) |
K1935E |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,297,017 (GRCm39) |
D2672E |
possibly damaging |
Het |
| Mtf1 |
A |
G |
4: 124,732,576 (GRCm39) |
T545A |
probably benign |
Het |
| Mup6 |
A |
T |
4: 60,004,812 (GRCm39) |
|
probably null |
Het |
| Myo9b |
T |
C |
8: 71,808,409 (GRCm39) |
V1672A |
probably damaging |
Het |
| Nudt16l2 |
T |
C |
9: 105,020,767 (GRCm39) |
I165V |
probably damaging |
Het |
| Or10al6 |
C |
A |
17: 38,082,949 (GRCm39) |
P135Q |
probably damaging |
Het |
| Or10j5 |
C |
T |
1: 172,785,205 (GRCm39) |
T281I |
possibly damaging |
Het |
| Or4k36 |
A |
T |
2: 111,145,983 (GRCm39) |
H53L |
probably benign |
Het |
| Or5d37 |
T |
A |
2: 87,923,362 (GRCm39) |
N306I |
probably damaging |
Het |
| Pcdhgb2 |
A |
T |
18: 37,825,102 (GRCm39) |
I698F |
probably damaging |
Het |
| Ppil6 |
T |
A |
10: 41,383,531 (GRCm39) |
L99* |
probably null |
Het |
| Psg22 |
T |
A |
7: 18,458,554 (GRCm39) |
V376E |
probably damaging |
Het |
| Pum1 |
G |
A |
4: 130,457,591 (GRCm39) |
R201H |
probably damaging |
Het |
| Rasa2 |
A |
T |
9: 96,439,433 (GRCm39) |
|
probably benign |
Het |
| Schip1 |
T |
A |
3: 68,525,963 (GRCm39) |
M379K |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,395,398 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
C |
T |
5: 35,864,322 (GRCm39) |
A622T |
probably benign |
Het |
| Smarcd2 |
A |
T |
11: 106,156,076 (GRCm39) |
I292N |
probably damaging |
Het |
| Ssxb17 |
C |
T |
X: 21,041,167 (GRCm39) |
S45N |
probably damaging |
Het |
| Stab1 |
G |
A |
14: 30,876,629 (GRCm39) |
R862C |
possibly damaging |
Het |
| Tdrd5 |
T |
A |
1: 156,087,312 (GRCm39) |
H870L |
probably benign |
Het |
| Tnfaip8 |
A |
G |
18: 50,223,443 (GRCm39) |
R60G |
possibly damaging |
Het |
| Traf3ip3 |
C |
T |
1: 192,880,254 (GRCm39) |
R25Q |
probably damaging |
Het |
| Unc5b |
T |
C |
10: 60,601,150 (GRCm39) |
Y892C |
probably damaging |
Het |
| Vmn2r2 |
T |
G |
3: 64,042,118 (GRCm39) |
D199A |
probably damaging |
Het |
| Washc2 |
C |
A |
6: 116,185,202 (GRCm39) |
P12Q |
probably damaging |
Het |
| Zfp286 |
T |
C |
11: 62,671,896 (GRCm39) |
I121V |
probably benign |
Het |
| Zfp606 |
T |
A |
7: 12,228,267 (GRCm39) |
|
probably null |
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 |
|
|
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'- CCATAGCTGAGCACAGGAAG -3'
(R):5'- AAAGTCTGCAATCTTGAGGAAACC -3'
Sequencing Primer
(F):5'- AGGTCATTAATACATAGCAAGACTGG -3'
(R):5'- ATCTTGAGGAAACCCTGGGCATC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation