Incidental Mutation 'R9800:Pkn3'
| ID |
735138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkn3
|
| Ensembl Gene |
ENSMUSG00000026785 |
| Gene Name |
protein kinase N3 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9800 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29967696-29981034 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 29973290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 371
(R371*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045246]
[ENSMUST00000125346]
[ENSMUST00000150770]
|
| AlphaFold |
Q8K045 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045246
AA Change: R371*
|
| SMART Domains |
Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: R371*
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.7%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
A |
7: 120,119,283 (GRCm39) |
I1009N |
possibly damaging |
Het |
| Abtb3 |
C |
A |
10: 85,224,079 (GRCm39) |
A296E |
unknown |
Het |
| Adcy8 |
T |
A |
15: 64,571,095 (GRCm39) |
N1213Y |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,581,433 (GRCm39) |
S1590G |
possibly damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,577,588 (GRCm39) |
N277K |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,740,149 (GRCm39) |
S1912T |
unknown |
Het |
| Ank3 |
T |
A |
10: 69,733,957 (GRCm39) |
N740K |
unknown |
Het |
| Atp13a3 |
A |
C |
16: 30,159,051 (GRCm39) |
I800S |
probably benign |
Het |
| AU041133 |
T |
A |
10: 81,986,679 (GRCm39) |
C111S |
probably damaging |
Het |
| Azi2 |
T |
A |
9: 117,884,924 (GRCm39) |
I211N |
probably benign |
Het |
| Camk2b |
T |
C |
11: 5,922,408 (GRCm39) |
N480S |
probably damaging |
Het |
| Card6 |
A |
G |
15: 5,128,702 (GRCm39) |
V898A |
probably benign |
Het |
| Copb2 |
T |
A |
9: 98,461,081 (GRCm39) |
M381K |
probably damaging |
Het |
| Cplx3 |
T |
C |
9: 57,523,060 (GRCm39) |
D133G |
probably damaging |
Het |
| Crisp1 |
A |
T |
17: 40,616,071 (GRCm39) |
M102K |
probably damaging |
Het |
| Dcxr |
A |
T |
11: 120,618,084 (GRCm39) |
|
probably benign |
Het |
| Dennd5a |
C |
A |
7: 109,500,374 (GRCm39) |
R917L |
probably benign |
Het |
| Egflam |
T |
A |
15: 7,279,525 (GRCm39) |
T494S |
probably benign |
Het |
| Fkbpl |
T |
A |
17: 34,864,691 (GRCm39) |
M153K |
probably benign |
Het |
| Helz2 |
A |
T |
2: 180,882,616 (GRCm39) |
I59N |
probably damaging |
Het |
| Ldlrap1 |
T |
C |
4: 134,477,303 (GRCm39) |
T194A |
probably benign |
Het |
| Lrrc27 |
T |
C |
7: 138,807,913 (GRCm39) |
M340T |
probably benign |
Het |
| Lum |
T |
A |
10: 97,404,157 (GRCm39) |
S17R |
probably benign |
Het |
| Malrd1 |
A |
G |
2: 15,847,405 (GRCm39) |
K1182E |
unknown |
Het |
| Map3k2 |
A |
T |
18: 32,333,069 (GRCm39) |
D81V |
possibly damaging |
Het |
| Muc5b |
A |
T |
7: 141,415,480 (GRCm39) |
T2809S |
possibly damaging |
Het |
| Nle1 |
C |
A |
11: 82,793,876 (GRCm39) |
V387L |
probably benign |
Het |
| Nr1h4 |
T |
C |
10: 89,290,618 (GRCm39) |
D474G |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,163,468 (GRCm39) |
I144T |
possibly damaging |
Het |
| Or10ag57 |
G |
T |
2: 87,218,508 (GRCm39) |
C153F |
probably damaging |
Het |
| Or1e17 |
C |
A |
11: 73,831,986 (GRCm39) |
L305I |
probably benign |
Het |
| Or2a56 |
A |
T |
6: 42,933,091 (GRCm39) |
I220F |
probably damaging |
Het |
| Or4f15 |
G |
A |
2: 111,814,194 (GRCm39) |
S75L |
possibly damaging |
Het |
| Or4n4 |
G |
A |
14: 50,519,701 (GRCm39) |
T3I |
probably benign |
Het |
| Or51f1 |
T |
C |
7: 102,506,093 (GRCm39) |
Y132C |
probably benign |
Het |
| Plin2 |
A |
T |
4: 86,586,742 (GRCm39) |
S30T |
possibly damaging |
Het |
| Ppfibp1 |
T |
C |
6: 146,917,769 (GRCm39) |
V475A |
probably benign |
Het |
| Ppp2ca |
T |
C |
11: 52,008,910 (GRCm39) |
Y137H |
probably damaging |
Het |
| Rasgrf2 |
T |
A |
13: 92,267,860 (GRCm39) |
Q48L |
probably damaging |
Het |
| Rnf168 |
G |
C |
16: 32,117,386 (GRCm39) |
V316L |
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Spata31d1d |
T |
C |
13: 59,874,637 (GRCm39) |
H966R |
possibly damaging |
Het |
| Speg |
C |
A |
1: 75,399,358 (GRCm39) |
D2268E |
probably benign |
Het |
| Srp54c |
A |
G |
12: 55,296,811 (GRCm39) |
I170V |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,704,364 (GRCm39) |
R439G |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,949,558 (GRCm39) |
K1155R |
unknown |
Het |
| Tmem184c |
T |
C |
8: 78,323,087 (GRCm39) |
I592V |
probably benign |
Het |
| Trav6-7-dv9 |
A |
G |
14: 53,947,669 (GRCm39) |
Y57C |
probably damaging |
Het |
| Trpc1 |
T |
A |
9: 95,625,303 (GRCm39) |
I108F |
probably damaging |
Het |
| Virma |
A |
T |
4: 11,546,007 (GRCm39) |
H1615L |
probably damaging |
Het |
| Vmn2r10 |
A |
T |
5: 109,150,404 (GRCm39) |
D213E |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,620,399 (GRCm39) |
V711E |
probably damaging |
Het |
| Vps16 |
T |
C |
2: 130,282,405 (GRCm39) |
F413L |
probably benign |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Wasf1 |
T |
C |
10: 40,812,693 (GRCm39) |
I494T |
unknown |
Het |
| Wdr36 |
A |
G |
18: 32,985,700 (GRCm39) |
D539G |
possibly damaging |
Het |
| Zfp81 |
A |
T |
17: 33,554,411 (GRCm39) |
C134* |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGAAATCCTGGGACCAGAG -3'
(R):5'- GAACCTGTCTCCATCTCTCAAG -3'
Sequencing Primer
(F):5'- ATCCTGGGACCAGAGTTTTATC -3'
(R):5'- CACAGATCCTGGGGATTTGAACTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation