Incidental Mutation 'R6562:Pkn3'
| ID |
522406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkn3
|
| Ensembl Gene |
ENSMUSG00000026785 |
| Gene Name |
protein kinase N3 |
| Synonyms |
|
| MMRRC Submission |
044686-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6562 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29967696-29981034 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 29970699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045246]
[ENSMUST00000125346]
[ENSMUST00000150770]
|
| AlphaFold |
Q8K045 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045246
|
| SMART Domains |
Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
| 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 null
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 |
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
|
| Meta Mutation Damage Score |
0.9485 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
| Validation Efficiency |
100% (60/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,970,543 (GRCm39) |
K26E |
probably benign |
Het |
| Abt1 |
T |
G |
13: 23,607,758 (GRCm39) |
E82A |
probably damaging |
Het |
| Actr8 |
A |
G |
14: 29,708,411 (GRCm39) |
|
probably null |
Het |
| Akap12 |
G |
T |
10: 4,306,141 (GRCm39) |
E984* |
probably null |
Het |
| Ankrd13a |
C |
A |
5: 114,942,453 (GRCm39) |
|
probably benign |
Het |
| Ankrd13c |
T |
A |
3: 157,705,309 (GRCm39) |
S411T |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,124,647 (GRCm39) |
|
probably null |
Het |
| Arhgef3 |
A |
T |
14: 26,874,953 (GRCm39) |
|
probably benign |
Het |
| Atad5 |
T |
C |
11: 80,024,032 (GRCm39) |
S1712P |
probably benign |
Het |
| Bbs12 |
A |
G |
3: 37,374,389 (GRCm39) |
E394G |
probably damaging |
Het |
| Ccdc158 |
T |
G |
5: 92,810,581 (GRCm39) |
K102N |
probably damaging |
Het |
| Ccdc169 |
A |
G |
3: 55,058,235 (GRCm39) |
N89S |
probably damaging |
Het |
| Cd200l1 |
C |
T |
16: 45,264,442 (GRCm39) |
E39K |
probably benign |
Het |
| Cenpu |
T |
C |
8: 47,025,858 (GRCm39) |
I132T |
possibly damaging |
Het |
| Cnrip1 |
G |
A |
11: 17,028,539 (GRCm39) |
W157* |
probably null |
Het |
| Ctnnd1 |
A |
G |
2: 84,454,652 (GRCm39) |
S53P |
probably benign |
Het |
| Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,879,647 (GRCm39) |
V969D |
probably damaging |
Het |
| Ehd2 |
C |
A |
7: 15,691,492 (GRCm39) |
R280L |
probably benign |
Het |
| Entpd5 |
T |
C |
12: 84,432,974 (GRCm39) |
T218A |
probably damaging |
Het |
| Fcrl2 |
A |
C |
3: 87,164,635 (GRCm39) |
I297S |
probably benign |
Het |
| Frmpd2 |
T |
A |
14: 33,293,872 (GRCm39) |
L1346Q |
probably benign |
Het |
| Fry |
T |
C |
5: 150,249,614 (GRCm39) |
S142P |
probably damaging |
Het |
| Gbgt1 |
A |
T |
2: 28,394,898 (GRCm39) |
I179F |
probably damaging |
Het |
| Gm17067 |
A |
T |
7: 42,358,153 (GRCm39) |
S116R |
probably damaging |
Het |
| Gm5565 |
G |
T |
5: 146,094,964 (GRCm39) |
P261T |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 23,401,803 (GRCm39) |
F391L |
probably benign |
Het |
| Kcnmb4 |
A |
T |
10: 116,309,089 (GRCm39) |
|
probably null |
Het |
| Krt6a |
T |
A |
15: 101,600,094 (GRCm39) |
H386L |
probably benign |
Het |
| L3mbtl1 |
C |
T |
2: 162,812,124 (GRCm39) |
T723I |
probably benign |
Het |
| Lamb2 |
A |
T |
9: 108,364,207 (GRCm39) |
R1049W |
possibly damaging |
Het |
| Lrmda |
T |
C |
14: 22,648,254 (GRCm39) |
|
probably benign |
Het |
| Lysmd2 |
C |
T |
9: 75,542,691 (GRCm39) |
T95I |
unknown |
Het |
| Ndst3 |
A |
G |
3: 123,346,181 (GRCm39) |
S698P |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,102,728 (GRCm39) |
D300G |
probably damaging |
Het |
| Nutf2 |
G |
T |
8: 106,602,258 (GRCm39) |
D23Y |
probably benign |
Het |
| Or6c211 |
G |
A |
10: 129,506,008 (GRCm39) |
P127S |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,887,589 (GRCm39) |
Y300C |
probably damaging |
Het |
| Pgghg |
A |
G |
7: 140,526,506 (GRCm39) |
I633V |
probably benign |
Het |
| Pik3r3 |
C |
T |
4: 116,157,006 (GRCm39) |
Q496* |
probably null |
Het |
| Plin2 |
A |
T |
4: 86,576,832 (GRCm39) |
S298T |
probably benign |
Het |
| Prdm8 |
T |
C |
5: 98,331,202 (GRCm39) |
V18A |
possibly damaging |
Het |
| Rel |
C |
A |
11: 23,707,026 (GRCm39) |
G59* |
probably null |
Het |
| Siglecg |
A |
G |
7: 43,058,481 (GRCm39) |
R123G |
possibly damaging |
Het |
| Slc13a1 |
T |
A |
6: 24,150,792 (GRCm39) |
I49F |
probably benign |
Het |
| Slc39a10 |
T |
A |
1: 46,874,724 (GRCm39) |
T193S |
probably benign |
Het |
| Slc9a3 |
T |
A |
13: 74,303,280 (GRCm39) |
V191E |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,721,443 (GRCm39) |
T1246S |
possibly damaging |
Het |
| Sult2b1 |
A |
C |
7: 45,391,670 (GRCm39) |
S39A |
probably benign |
Het |
| Tead1 |
A |
G |
7: 112,460,650 (GRCm39) |
T185A |
probably benign |
Het |
| Tmem67 |
A |
G |
4: 12,053,445 (GRCm39) |
|
probably null |
Het |
| Trim12c |
A |
T |
7: 103,994,341 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,815,406 (GRCm39) |
F1164Y |
probably damaging |
Het |
| Ube2d1 |
C |
T |
10: 71,098,071 (GRCm39) |
D16N |
probably benign |
Het |
| Vmn2r24 |
A |
T |
6: 123,757,386 (GRCm39) |
I85F |
probably benign |
Het |
| Vwde |
T |
A |
6: 13,193,122 (GRCm39) |
N406Y |
possibly damaging |
Het |
| Wdr54 |
A |
T |
6: 83,132,050 (GRCm39) |
|
probably null |
Het |
| Zcchc14 |
A |
T |
8: 122,330,842 (GRCm39) |
N840K |
probably damaging |
Het |
| Zfp451 |
C |
A |
1: 33,801,260 (GRCm39) |
S1052I |
possibly 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 |
|
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 |
|
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'- GCTTGAACCTTGGTATAACAGGG -3'
(R):5'- CTGTAGAGACAGCAGTGAGC -3'
Sequencing Primer
(F):5'- CCTTGGTATAACAGGGGAGGCTC -3'
(R):5'- ACACAGCCTGACCTCGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation