Incidental Mutation 'R8401:Pkn3'
| ID |
652175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkn3
|
| Ensembl Gene |
ENSMUSG00000026785 |
| Gene Name |
protein kinase N3 |
| Synonyms |
|
| MMRRC Submission |
067877-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8401 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29967696-29981034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 29970071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 126
(S126R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045246]
[ENSMUST00000125346]
[ENSMUST00000150770]
|
| AlphaFold |
Q8K045 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045246
AA Change: S126R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: S126R
| 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
AA Change: S130R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000120268
Gene: ENSMUSG00000026785
AA Change: S130R
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
98% (55/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd28 |
T |
C |
14: 31,467,251 (GRCm39) |
Y207C |
probably damaging |
Het |
| Ano8 |
T |
C |
8: 71,936,011 (GRCm39) |
D235G |
probably damaging |
Het |
| Atp2b4 |
T |
A |
1: 133,659,574 (GRCm39) |
I463F |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,475,817 (GRCm39) |
I2509N |
probably damaging |
Het |
| Brinp3 |
T |
C |
1: 146,777,184 (GRCm39) |
S544P |
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,963,473 (GRCm39) |
Y824C |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,870,904 (GRCm39) |
V330A |
probably benign |
Het |
| Dct |
T |
C |
14: 118,280,615 (GRCm39) |
T134A |
possibly damaging |
Het |
| Ddx56 |
T |
C |
11: 6,214,199 (GRCm39) |
D350G |
probably damaging |
Het |
| Ddx60 |
C |
T |
8: 62,409,277 (GRCm39) |
L438F |
possibly damaging |
Het |
| Dnah17 |
T |
A |
11: 117,915,485 (GRCm39) |
K4378M |
probably damaging |
Het |
| Drc7 |
C |
T |
8: 95,800,763 (GRCm39) |
S595F |
probably benign |
Het |
| Epb41 |
C |
T |
4: 131,702,018 (GRCm39) |
R539Q |
probably damaging |
Het |
| Foxred2 |
T |
C |
15: 77,836,191 (GRCm39) |
I389V |
probably damaging |
Het |
| Gan |
C |
A |
8: 117,910,242 (GRCm39) |
T57K |
possibly damaging |
Het |
| Glra3 |
T |
C |
8: 56,542,124 (GRCm39) |
V289A |
probably damaging |
Het |
| Grk1 |
T |
C |
8: 13,457,846 (GRCm39) |
F249L |
probably damaging |
Het |
| Grk6 |
G |
A |
13: 55,599,981 (GRCm39) |
A258T |
possibly damaging |
Het |
| Hars1 |
T |
C |
18: 36,904,243 (GRCm39) |
N212S |
possibly damaging |
Het |
| Ikzf2 |
C |
A |
1: 69,578,254 (GRCm39) |
Q418H |
probably damaging |
Het |
| Ikzf2 |
T |
G |
1: 69,578,255 (GRCm39) |
Q418P |
probably damaging |
Het |
| Klre1 |
T |
A |
6: 129,556,989 (GRCm39) |
N30K |
probably benign |
Het |
| Lama5 |
G |
T |
2: 179,840,580 (GRCm39) |
D606E |
probably damaging |
Het |
| Lca5l |
T |
C |
16: 95,963,760 (GRCm39) |
K393R |
probably damaging |
Het |
| Lmbrd2 |
A |
T |
15: 9,156,294 (GRCm39) |
I124F |
possibly damaging |
Het |
| Loxhd1 |
C |
A |
18: 77,468,156 (GRCm39) |
P935T |
probably damaging |
Het |
| Nes |
T |
C |
3: 87,885,388 (GRCm39) |
S1216P |
possibly damaging |
Het |
| Nim1k |
A |
G |
13: 120,174,213 (GRCm39) |
L227P |
probably damaging |
Het |
| Nkx2-1 |
C |
A |
12: 56,579,841 (GRCm39) |
L366F |
probably damaging |
Het |
| Nol6 |
C |
A |
4: 41,119,548 (GRCm39) |
R586L |
possibly damaging |
Het |
| Ogdh |
T |
A |
11: 6,247,174 (GRCm39) |
L66* |
probably null |
Het |
| Or2b28 |
A |
T |
13: 21,531,997 (GRCm39) |
I300L |
probably benign |
Het |
| Orm3 |
A |
G |
4: 63,274,467 (GRCm39) |
S11G |
possibly damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,335,091 (GRCm39) |
D442E |
probably damaging |
Het |
| Pop1 |
A |
T |
15: 34,508,755 (GRCm39) |
T277S |
probably damaging |
Het |
| Prkag2 |
T |
C |
5: 25,068,868 (GRCm39) |
T563A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,591,477 (GRCm39) |
F2652I |
possibly damaging |
Het |
| Prok1 |
A |
G |
3: 107,144,513 (GRCm39) |
I30T |
probably benign |
Het |
| Prr9 |
T |
G |
3: 92,030,356 (GRCm39) |
T95P |
possibly damaging |
Het |
| Ptgds |
A |
G |
2: 25,359,669 (GRCm39) |
M6T |
unknown |
Het |
| Rnaseh2b |
T |
A |
14: 62,607,938 (GRCm39) |
D250E |
probably benign |
Het |
| Rundc1 |
C |
T |
11: 101,324,383 (GRCm39) |
T363M |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,683,821 (GRCm39) |
H3081L |
possibly damaging |
Het |
| Setmar |
T |
C |
6: 108,053,124 (GRCm39) |
I206T |
probably benign |
Het |
| Skic8 |
A |
T |
9: 54,635,539 (GRCm39) |
S21T |
probably benign |
Het |
| Slitrk6 |
A |
G |
14: 110,989,453 (GRCm39) |
S85P |
possibly damaging |
Het |
| Spi1 |
A |
G |
2: 90,943,650 (GRCm39) |
N65D |
probably benign |
Het |
| Stx1b |
A |
T |
7: 127,406,945 (GRCm39) |
|
probably benign |
Het |
| Trav5-4 |
G |
A |
14: 53,941,750 (GRCm39) |
S41N |
probably benign |
Het |
| Tspan14 |
T |
C |
14: 40,630,049 (GRCm39) |
D260G |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,852,527 (GRCm39) |
D645G |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,275,062 (GRCm39) |
T1845I |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,127,973 (GRCm39) |
L932P |
probably damaging |
Het |
| Zfp62 |
T |
A |
11: 49,108,218 (GRCm39) |
C770S |
probably damaging |
Het |
| Zfp672 |
T |
C |
11: 58,207,628 (GRCm39) |
K231R |
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 |
|
|
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 |
|
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'- CAATCCTGGCCTTGGCTTTG -3'
(R):5'- ACTTCTAGCATTAGGTGAGGAGC -3'
Sequencing Primer
(F):5'- CCACATGTTGTCTATACGGAAGG -3'
(R):5'- CTGGGCCAGGGTAGCATTTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation