Incidental Mutation 'IGL02552:Pkn3'
| ID |
298146 |
| 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 # |
IGL02552
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
29967696-29981034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29970879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 209
(R209Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045246]
[ENSMUST00000125346]
[ENSMUST00000150770]
|
| AlphaFold |
Q8K045 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045246
AA Change: R205Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: R205Q
| 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 damaging
Transcript: ENSMUST00000125346
AA Change: R209Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120268
Gene: ENSMUSG00000026785
AA Change: R209Q
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
G |
3: 124,208,145 (GRCm39) |
L178S |
probably damaging |
Het |
| Abca12 |
A |
G |
1: 71,333,906 (GRCm39) |
Y1199H |
probably damaging |
Het |
| Abcc9 |
T |
C |
6: 142,551,645 (GRCm39) |
D1221G |
possibly damaging |
Het |
| Apc |
T |
A |
18: 34,446,035 (GRCm39) |
M977K |
possibly damaging |
Het |
| Arhgap30 |
T |
A |
1: 171,235,324 (GRCm39) |
L566Q |
probably damaging |
Het |
| Arhgap40 |
T |
A |
2: 158,388,721 (GRCm39) |
W552R |
probably benign |
Het |
| Astn1 |
C |
T |
1: 158,332,965 (GRCm39) |
S349F |
possibly damaging |
Het |
| Bard1 |
T |
C |
1: 71,104,815 (GRCm39) |
|
probably benign |
Het |
| Batf2 |
T |
A |
19: 6,221,537 (GRCm39) |
Y116N |
probably benign |
Het |
| Bltp3b |
T |
A |
10: 89,642,605 (GRCm39) |
L10* |
probably null |
Het |
| Cbx6 |
T |
C |
15: 79,713,094 (GRCm39) |
H111R |
probably damaging |
Het |
| Cd44 |
T |
A |
2: 102,679,076 (GRCm39) |
N242I |
probably benign |
Het |
| Cdnf |
C |
T |
2: 3,525,012 (GRCm39) |
Q184* |
probably null |
Het |
| Chd2 |
C |
A |
7: 73,097,068 (GRCm39) |
|
probably benign |
Het |
| Cmtm6 |
G |
A |
9: 114,566,374 (GRCm39) |
V88M |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,179,962 (GRCm39) |
S1151R |
possibly damaging |
Het |
| Csta2 |
A |
G |
16: 36,073,459 (GRCm39) |
E15G |
probably damaging |
Het |
| Degs1l |
T |
A |
1: 180,882,463 (GRCm39) |
V75E |
possibly damaging |
Het |
| Dnajc2 |
T |
C |
5: 21,988,061 (GRCm39) |
D6G |
probably damaging |
Het |
| Eif3a |
G |
A |
19: 60,751,664 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
C |
A |
2: 125,254,633 (GRCm39) |
C210F |
possibly damaging |
Het |
| Fmn2 |
T |
A |
1: 174,523,286 (GRCm39) |
D1380E |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,304,375 (GRCm39) |
K588N |
probably damaging |
Het |
| Gm18856 |
G |
A |
13: 14,139,805 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
G |
T |
6: 25,688,686 (GRCm39) |
T137K |
probably benign |
Het |
| Gzmc |
T |
C |
14: 56,472,039 (GRCm39) |
M1V |
probably null |
Het |
| Htr5a |
T |
C |
5: 28,047,958 (GRCm39) |
V171A |
probably benign |
Het |
| Ints6l |
T |
C |
X: 55,500,557 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 23,436,327 (GRCm39) |
|
probably null |
Het |
| Krt35 |
C |
T |
11: 99,983,899 (GRCm39) |
G367D |
probably benign |
Het |
| Nlrp1b |
C |
T |
11: 71,063,057 (GRCm39) |
V668I |
possibly damaging |
Het |
| Nlrp1b |
C |
T |
11: 71,072,878 (GRCm39) |
V322I |
possibly damaging |
Het |
| Ntf3 |
T |
C |
6: 126,078,823 (GRCm39) |
N228D |
probably damaging |
Het |
| Nup133 |
G |
A |
8: 124,655,994 (GRCm39) |
R496W |
possibly damaging |
Het |
| Or4c10 |
T |
C |
2: 89,760,903 (GRCm39) |
V250A |
probably benign |
Het |
| Or51i1 |
C |
A |
7: 103,671,463 (GRCm39) |
G21W |
probably damaging |
Het |
| Pah |
C |
T |
10: 87,414,707 (GRCm39) |
|
probably benign |
Het |
| Pan2 |
G |
T |
10: 128,154,896 (GRCm39) |
W1112L |
probably damaging |
Het |
| Plaa |
C |
T |
4: 94,470,717 (GRCm39) |
|
probably null |
Het |
| Qprt |
C |
T |
7: 126,708,027 (GRCm39) |
A135T |
probably damaging |
Het |
| Rbbp6 |
T |
G |
7: 122,582,204 (GRCm39) |
S108A |
probably damaging |
Het |
| Smg1 |
T |
A |
7: 117,795,117 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
T |
A |
18: 44,125,235 (GRCm39) |
C368S |
possibly damaging |
Het |
| Sptan1 |
T |
A |
2: 29,908,486 (GRCm39) |
I1734N |
probably damaging |
Het |
| Stk38l |
C |
T |
6: 146,669,031 (GRCm39) |
L170F |
probably damaging |
Het |
| Tesmin |
C |
T |
19: 3,452,483 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,949,530 (GRCm39) |
C1697* |
probably null |
Het |
| Tmco4 |
T |
C |
4: 138,785,690 (GRCm39) |
S587P |
probably benign |
Het |
| Tmem208 |
G |
A |
8: 106,055,329 (GRCm39) |
|
probably null |
Het |
| Trim30d |
T |
C |
7: 104,121,623 (GRCm39) |
Q224R |
probably damaging |
Het |
| Trpm7 |
T |
A |
2: 126,682,699 (GRCm39) |
D390V |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,858,589 (GRCm39) |
I807V |
probably benign |
Het |
| Utp18 |
C |
A |
11: 93,759,160 (GRCm39) |
C438F |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,899,707 (GRCm39) |
K191E |
possibly damaging |
Het |
| Wdr27 |
A |
G |
17: 15,146,453 (GRCm39) |
S181P |
probably damaging |
Het |
| Zfp462 |
T |
C |
4: 55,010,613 (GRCm39) |
Y860H |
probably 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 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation