Incidental Mutation 'R7128:Pkn3'
| ID |
552435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkn3
|
| Ensembl Gene |
ENSMUSG00000026785 |
| Gene Name |
protein kinase N3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7128 (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 29973327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 383
(D383G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045246]
[ENSMUST00000125346]
[ENSMUST00000150770]
|
| AlphaFold |
Q8K045 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045246
AA Change: D383G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: D383G
| 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 |
probably benign
Transcript: ENSMUST00000150770
|
| SMART Domains |
Protein: ENSMUSP00000114492
Gene: ENSMUSG00000026785
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
28 |
91 |
3.45e-17 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,347,985 (GRCm39) |
D25G |
probably benign |
Het |
| Ak9 |
T |
C |
10: 41,300,713 (GRCm39) |
V1641A |
unknown |
Het |
| Akirin2 |
T |
C |
4: 34,562,435 (GRCm39) |
I118T |
probably benign |
Het |
| Aldh1l1 |
G |
T |
6: 90,540,361 (GRCm39) |
Q215H |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,326,971 (GRCm39) |
F495L |
possibly damaging |
Het |
| Atg4a-ps |
T |
A |
3: 103,553,063 (GRCm39) |
R93* |
probably null |
Het |
| Brd10 |
T |
C |
19: 29,693,881 (GRCm39) |
T1871A |
possibly damaging |
Het |
| Catsper3 |
A |
G |
13: 55,946,662 (GRCm39) |
I120V |
probably benign |
Het |
| Cavin2 |
A |
G |
1: 51,328,579 (GRCm39) |
Q12R |
possibly damaging |
Het |
| Cenpf |
A |
T |
1: 189,417,188 (GRCm39) |
F39Y |
probably damaging |
Het |
| Chfr |
T |
C |
5: 110,291,502 (GRCm39) |
Y107H |
probably benign |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Defb4 |
T |
A |
8: 19,251,220 (GRCm39) |
I29K |
possibly damaging |
Het |
| Dnah7c |
A |
G |
1: 46,566,645 (GRCm39) |
T619A |
probably benign |
Het |
| Duxf1 |
T |
C |
10: 58,059,479 (GRCm39) |
Q425R |
unknown |
Het |
| Emc3 |
A |
G |
6: 113,494,881 (GRCm39) |
L179P |
probably damaging |
Het |
| Eno3 |
G |
C |
11: 70,549,430 (GRCm39) |
V84L |
possibly damaging |
Het |
| Fam110a |
C |
T |
2: 151,812,642 (GRCm39) |
V43M |
probably damaging |
Het |
| Fbxo30 |
T |
A |
10: 11,165,860 (GRCm39) |
L194* |
probably null |
Het |
| Galnt14 |
T |
C |
17: 73,852,096 (GRCm39) |
T108A |
probably benign |
Het |
| Glipr2 |
T |
C |
4: 43,968,601 (GRCm39) |
I51T |
probably benign |
Het |
| Gm1527 |
C |
T |
3: 28,969,460 (GRCm39) |
S270F |
possibly damaging |
Het |
| Gm3336 |
A |
G |
8: 71,171,203 (GRCm39) |
M1V |
probably null |
Het |
| Gm4744 |
T |
C |
6: 40,927,310 (GRCm39) |
D15G |
|
Het |
| Gm4924 |
G |
A |
10: 82,214,533 (GRCm39) |
C777Y |
unknown |
Het |
| Gm5901 |
G |
A |
7: 105,027,408 (GRCm39) |
G306S |
probably damaging |
Het |
| Gon4l |
T |
A |
3: 88,802,999 (GRCm39) |
N1203K |
possibly damaging |
Het |
| Gpr161 |
A |
T |
1: 165,138,026 (GRCm39) |
Y204F |
possibly damaging |
Het |
| Igsf10 |
T |
C |
3: 59,236,326 (GRCm39) |
E1285G |
probably benign |
Het |
| Irx6 |
T |
C |
8: 93,403,994 (GRCm39) |
L187P |
probably damaging |
Het |
| Itgb1bp1 |
A |
G |
12: 21,322,089 (GRCm39) |
Y117H |
probably benign |
Het |
| Itln1 |
C |
A |
1: 171,358,143 (GRCm39) |
D202Y |
possibly damaging |
Het |
| Kctd9 |
T |
C |
14: 67,975,972 (GRCm39) |
S242P |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,686,088 (GRCm39) |
H2143R |
probably benign |
Het |
| Lynx1 |
G |
A |
15: 74,623,398 (GRCm39) |
R50* |
probably null |
Het |
| Lypd11 |
C |
T |
7: 24,425,424 (GRCm39) |
|
probably null |
Het |
| Map10 |
A |
G |
8: 126,398,592 (GRCm39) |
I662V |
probably benign |
Het |
| Mlxipl |
T |
C |
5: 135,162,705 (GRCm39) |
L691P |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,554,300 (GRCm39) |
S3998P |
unknown |
Het |
| Nalcn |
A |
T |
14: 123,831,914 (GRCm39) |
V120E |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,085,323 (GRCm39) |
S539P |
probably benign |
Het |
| Olfml3 |
T |
C |
3: 103,644,484 (GRCm39) |
M62V |
probably benign |
Het |
| Orm3 |
T |
C |
4: 63,276,062 (GRCm39) |
V158A |
probably benign |
Het |
| Pakap |
T |
C |
4: 57,855,816 (GRCm39) |
S382P |
probably benign |
Het |
| Pced1b |
A |
T |
15: 97,282,479 (GRCm39) |
K173* |
probably null |
Het |
| Pdzd7 |
T |
C |
19: 45,016,388 (GRCm39) |
D911G |
probably damaging |
Het |
| Pm20d1 |
A |
G |
1: 131,725,292 (GRCm39) |
E46G |
probably benign |
Het |
| Pyroxd2 |
A |
T |
19: 42,719,842 (GRCm39) |
S455T |
probably benign |
Het |
| Rmnd5b |
T |
A |
11: 51,515,364 (GRCm39) |
I301F |
possibly damaging |
Het |
| Rnf225 |
A |
G |
7: 12,661,911 (GRCm39) |
N30S |
probably benign |
Het |
| Shisal2a |
G |
T |
4: 108,225,100 (GRCm39) |
T154K |
probably benign |
Het |
| Slfn3 |
T |
A |
11: 83,105,721 (GRCm39) |
C573S |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,351,632 (GRCm39) |
E887G |
probably damaging |
Het |
| Sp140 |
A |
T |
1: 85,547,846 (GRCm39) |
D191V |
possibly damaging |
Het |
| Srf |
C |
T |
17: 46,866,372 (GRCm39) |
S128N |
possibly damaging |
Het |
| Sult6b1 |
T |
C |
17: 79,202,070 (GRCm39) |
D144G |
probably damaging |
Het |
| Syne1 |
G |
A |
10: 5,193,180 (GRCm39) |
A3956V |
probably damaging |
Het |
| Syt10 |
A |
T |
15: 89,698,314 (GRCm39) |
D343E |
probably damaging |
Het |
| Tgtp2 |
G |
A |
11: 48,950,135 (GRCm39) |
R146C |
possibly damaging |
Het |
| Tmcc3 |
A |
T |
10: 94,266,496 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf1a |
A |
T |
6: 125,338,499 (GRCm39) |
T337S |
probably benign |
Het |
| Tns1 |
A |
T |
1: 74,034,463 (GRCm39) |
I144N |
|
Het |
| Trim11 |
A |
G |
11: 58,869,103 (GRCm39) |
E13G |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,789,137 (GRCm39) |
H569L |
possibly damaging |
Het |
| Ttbk2 |
T |
A |
2: 120,576,569 (GRCm39) |
I803L |
probably benign |
Het |
| Vmn1r21 |
G |
T |
6: 57,820,936 (GRCm39) |
N169K |
probably damaging |
Het |
| Vmn2r60 |
C |
T |
7: 41,844,536 (GRCm39) |
T633I |
probably damaging |
Het |
| Wt1 |
T |
C |
2: 104,957,670 (GRCm39) |
Y177H |
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 |
|
|
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 |
|
|
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'- TCATCTCCTTGGACCGAGTAG -3'
(R):5'- GAACCTGTCTCCATCTCTCAAG -3'
Sequencing Primer
(F):5'- ACCGAGTAGGCTGGCCTTTG -3'
(R):5'- CACAGATCCTGGGGATTTGAACTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation