Incidental Mutation 'R0491:Pkn3'
| ID |
42449 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkn3
|
| Ensembl Gene |
ENSMUSG00000026785 |
| Gene Name |
protein kinase N3 |
| Synonyms |
|
| MMRRC Submission |
038689-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0491 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29967696-29981034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29979889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 711
(T711S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045246]
[ENSMUST00000081838]
[ENSMUST00000102865]
|
| AlphaFold |
Q8K045 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045246
AA Change: T711S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: T711S
| 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: ENSMUST00000081838
|
| SMART Domains |
Protein: ENSMUSP00000080521
Gene: ENSMUSG00000015335
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
58 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
106 |
232 |
1.9e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102865
|
| SMART Domains |
Protein: ENSMUSP00000099929
Gene: ENSMUSG00000015335
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
58 |
218 |
1.1e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134591
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137001
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137240
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148650
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156197
|
| Meta Mutation Damage Score |
0.3301 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
| Validation Efficiency |
100% (65/65) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,248,235 (GRCm39) |
F2661L |
probably benign |
Het |
| Acadsb |
A |
G |
7: 131,031,836 (GRCm39) |
D224G |
probably benign |
Het |
| Acsm1 |
A |
G |
7: 119,239,920 (GRCm39) |
H288R |
probably damaging |
Het |
| Adamts2 |
A |
G |
11: 50,667,457 (GRCm39) |
D465G |
probably damaging |
Het |
| Akap9 |
A |
T |
5: 4,022,851 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,679,582 (GRCm39) |
T3240A |
probably damaging |
Het |
| Ap3d1 |
A |
G |
10: 80,555,075 (GRCm39) |
W417R |
probably damaging |
Het |
| Arfgef1 |
C |
A |
1: 10,250,212 (GRCm39) |
|
probably benign |
Het |
| Atf6 |
A |
G |
1: 170,614,913 (GRCm39) |
|
probably null |
Het |
| Cacna1s |
T |
A |
1: 136,016,746 (GRCm39) |
|
probably benign |
Het |
| Clcn1 |
T |
C |
6: 42,287,515 (GRCm39) |
F740L |
probably benign |
Het |
| Clec12a |
T |
A |
6: 129,341,016 (GRCm39) |
D265E |
probably benign |
Het |
| Clic3 |
T |
A |
2: 25,347,797 (GRCm39) |
|
probably benign |
Het |
| Cntnap3 |
T |
G |
13: 64,909,859 (GRCm39) |
T749P |
probably benign |
Het |
| Col11a2 |
T |
A |
17: 34,261,186 (GRCm39) |
D45E |
probably null |
Het |
| Cplane1 |
T |
A |
15: 8,211,727 (GRCm39) |
S356T |
probably damaging |
Het |
| Crxos |
T |
A |
7: 15,632,460 (GRCm39) |
S89T |
probably benign |
Het |
| Cxcr1 |
G |
T |
1: 74,231,468 (GRCm39) |
P185T |
possibly damaging |
Het |
| Cyp20a1 |
T |
A |
1: 60,410,486 (GRCm39) |
N262K |
possibly damaging |
Het |
| Dennd2b |
T |
A |
7: 109,156,411 (GRCm39) |
Q113L |
probably benign |
Het |
| Dpy19l2 |
T |
C |
9: 24,607,324 (GRCm39) |
R46G |
probably benign |
Het |
| Dpysl2 |
A |
T |
14: 67,045,411 (GRCm39) |
L454Q |
probably damaging |
Het |
| Dvl3 |
C |
T |
16: 20,346,173 (GRCm39) |
|
probably benign |
Het |
| Eppin |
T |
A |
2: 164,431,332 (GRCm39) |
E98V |
possibly damaging |
Het |
| Fancm |
A |
T |
12: 65,152,835 (GRCm39) |
H1097L |
probably benign |
Het |
| Fkbp4 |
A |
G |
6: 128,412,705 (GRCm39) |
I75T |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,409,525 (GRCm39) |
H586R |
unknown |
Het |
| Gm973 |
C |
T |
1: 59,597,393 (GRCm39) |
|
probably benign |
Het |
| Haus6 |
A |
C |
4: 86,521,083 (GRCm39) |
V185G |
possibly damaging |
Het |
| Herc2 |
T |
A |
7: 55,772,114 (GRCm39) |
C1098S |
possibly damaging |
Het |
| Hic1 |
C |
A |
11: 75,057,136 (GRCm39) |
L584F |
possibly damaging |
Het |
| Itgb1bp1 |
C |
A |
12: 21,326,896 (GRCm39) |
|
probably benign |
Het |
| Kbtbd2 |
G |
A |
6: 56,757,374 (GRCm39) |
R121* |
probably null |
Het |
| Lgr4 |
C |
T |
2: 109,837,626 (GRCm39) |
|
probably benign |
Het |
| Lrrc55 |
T |
C |
2: 85,022,264 (GRCm39) |
E309G |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,635,027 (GRCm39) |
|
probably null |
Het |
| Micu3 |
A |
G |
8: 40,819,294 (GRCm39) |
|
probably benign |
Het |
| Mmp11 |
G |
A |
10: 75,762,592 (GRCm39) |
A287V |
probably benign |
Het |
| Mpzl2 |
A |
G |
9: 44,954,039 (GRCm39) |
Y47C |
probably damaging |
Het |
| Muc5b |
A |
C |
7: 141,415,752 (GRCm39) |
R2899S |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,794,857 (GRCm39) |
Y1078H |
probably benign |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Ncapd3 |
T |
G |
9: 26,969,179 (GRCm39) |
V611G |
probably damaging |
Het |
| Ntpcr |
C |
T |
8: 126,464,093 (GRCm39) |
R73* |
probably null |
Het |
| Or4c120 |
A |
T |
2: 89,000,704 (GRCm39) |
V284E |
probably benign |
Het |
| Or5b119 |
G |
A |
19: 13,456,857 (GRCm39) |
A235V |
probably damaging |
Het |
| Osbp2 |
A |
G |
11: 3,664,709 (GRCm39) |
F88S |
probably damaging |
Het |
| Plekhm1 |
T |
C |
11: 103,285,602 (GRCm39) |
K278E |
probably benign |
Het |
| Ppp1r36 |
A |
G |
12: 76,486,065 (GRCm39) |
T408A |
probably benign |
Het |
| Prss41 |
T |
C |
17: 24,061,477 (GRCm39) |
T105A |
possibly damaging |
Het |
| Psme1 |
G |
T |
14: 55,817,378 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,444,036 (GRCm39) |
Y1523N |
probably damaging |
Het |
| Ric8b |
A |
G |
10: 84,828,086 (GRCm39) |
D470G |
probably damaging |
Het |
| Scarb1 |
A |
G |
5: 125,375,795 (GRCm39) |
|
probably benign |
Het |
| Slc25a54 |
G |
A |
3: 109,010,112 (GRCm39) |
A204T |
probably damaging |
Het |
| Spink10 |
T |
C |
18: 62,793,036 (GRCm39) |
C67R |
probably damaging |
Het |
| Tmtc1 |
A |
T |
6: 148,314,138 (GRCm39) |
|
probably null |
Het |
| Tprkb |
A |
G |
6: 85,901,446 (GRCm39) |
D28G |
probably benign |
Het |
| Ttll13 |
A |
G |
7: 79,910,098 (GRCm39) |
H747R |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,259,302 (GRCm39) |
S1608G |
probably benign |
Het |
| Utp20 |
A |
T |
10: 88,596,774 (GRCm39) |
F2115L |
probably damaging |
Het |
| Vmn1r200 |
A |
T |
13: 22,579,361 (GRCm39) |
I46L |
probably benign |
Het |
| Zdhhc8 |
A |
T |
16: 18,046,254 (GRCm39) |
M103K |
probably damaging |
Het |
| Zfp595 |
C |
T |
13: 67,465,369 (GRCm39) |
G298E |
probably damaging |
Het |
| Zfp738 |
T |
G |
13: 67,818,140 (GRCm39) |
H617P |
possibly damaging |
Het |
| Zfp9 |
A |
T |
6: 118,442,163 (GRCm39) |
H166Q |
probably damaging |
Het |
| Zp3r |
C |
A |
1: 130,546,071 (GRCm39) |
D80Y |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- gtgagccatctcttcagGTCCATTC -3'
(R):5'- ACATGGGACATCAGCACTGACG -3'
Sequencing Primer
(F):5'- ggctgtcctggaactcac -3'
(R):5'- AATTGGGGTTCAGCAGGC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation