Incidental Mutation 'R1808:Pkn3'
| ID |
203578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkn3
|
| Ensembl Gene |
ENSMUSG00000026785 |
| Gene Name |
protein kinase N3 |
| Synonyms |
|
| MMRRC Submission |
039837-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1808 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29967696-29981034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 29969663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 58
(R58C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045246]
[ENSMUST00000125346]
[ENSMUST00000150770]
|
| AlphaFold |
Q8K045 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045246
AA Change: R45C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: R45C
| 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 damaging
Transcript: ENSMUST00000125346
AA Change: R49C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120268
Gene: ENSMUSG00000026785
AA Change: R49C
| 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 damaging
Transcript: ENSMUST00000150770
AA Change: R58C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114492
Gene: ENSMUSG00000026785
AA Change: R58C
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
28 |
91 |
3.45e-17 |
SMART |
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.1%
- 20x: 91.9%
|
| 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 |
|---|
| 1700001J03Rik |
G |
T |
5: 146,121,691 (GRCm39) |
Y69* |
probably null |
Het |
| 2310011J03Rik |
A |
G |
10: 80,156,015 (GRCm39) |
|
probably null |
Het |
| A2ml1 |
A |
C |
6: 128,520,262 (GRCm39) |
D1367E |
probably damaging |
Het |
| Adam6a |
C |
G |
12: 113,508,334 (GRCm39) |
L236V |
probably benign |
Het |
| Arf3 |
T |
C |
15: 98,638,954 (GRCm39) |
N101S |
probably benign |
Het |
| Arhgap42 |
T |
C |
9: 9,180,051 (GRCm39) |
E76G |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,052,573 (GRCm39) |
F382S |
probably damaging |
Het |
| Bud13 |
T |
A |
9: 46,199,705 (GRCm39) |
F355L |
probably benign |
Het |
| C2 |
G |
A |
17: 35,083,508 (GRCm39) |
P349S |
probably damaging |
Het |
| Cbl |
C |
A |
9: 44,075,526 (GRCm39) |
G373V |
probably damaging |
Het |
| Ccdc3 |
T |
A |
2: 5,142,896 (GRCm39) |
L51Q |
probably damaging |
Het |
| Ccdc34 |
T |
A |
2: 109,874,601 (GRCm39) |
M320K |
probably benign |
Het |
| Cntln |
A |
G |
4: 85,015,000 (GRCm39) |
E1097G |
probably damaging |
Het |
| Ctsc |
A |
C |
7: 87,948,750 (GRCm39) |
K195Q |
possibly damaging |
Het |
| Ctsf |
C |
T |
19: 4,906,562 (GRCm39) |
P163L |
probably benign |
Het |
| Dcxr |
A |
T |
11: 120,616,438 (GRCm39) |
|
probably null |
Het |
| Dgki |
T |
C |
6: 37,126,509 (GRCm39) |
E157G |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,903,160 (GRCm39) |
L933P |
probably damaging |
Het |
| Dtna |
T |
C |
18: 23,702,697 (GRCm39) |
L76P |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,784,515 (GRCm39) |
C192S |
probably benign |
Het |
| Galnt5 |
T |
A |
2: 57,916,137 (GRCm39) |
D683E |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,542,143 (GRCm39) |
A1297T |
probably benign |
Het |
| Grik4 |
T |
C |
9: 42,540,322 (GRCm39) |
N286S |
probably benign |
Het |
| Hrc |
A |
T |
7: 44,986,202 (GRCm39) |
E451V |
probably damaging |
Het |
| Hrh3 |
G |
A |
2: 179,741,577 (GRCm39) |
|
probably benign |
Het |
| Ints13 |
A |
G |
6: 146,455,695 (GRCm39) |
I152T |
probably damaging |
Het |
| Irgm1 |
A |
T |
11: 48,757,259 (GRCm39) |
V184D |
probably damaging |
Het |
| Itga5 |
C |
T |
15: 103,258,826 (GRCm39) |
A791T |
probably damaging |
Het |
| Kcp |
T |
C |
6: 29,505,654 (GRCm39) |
T73A |
probably benign |
Het |
| Kidins220 |
A |
G |
12: 25,053,008 (GRCm39) |
T433A |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Kmt2d |
T |
C |
15: 98,764,567 (GRCm39) |
D12G |
probably damaging |
Het |
| Mms19 |
A |
G |
19: 41,954,698 (GRCm39) |
S74P |
probably damaging |
Het |
| Myh1 |
G |
T |
11: 67,102,300 (GRCm39) |
E864* |
probably null |
Het |
| Nek1 |
A |
G |
8: 61,469,264 (GRCm39) |
D107G |
probably damaging |
Het |
| Npc1 |
T |
C |
18: 12,327,149 (GRCm39) |
N1149D |
probably damaging |
Het |
| Or14j6 |
T |
A |
17: 38,214,661 (GRCm39) |
S75T |
probably damaging |
Het |
| Or3a1b |
C |
A |
11: 74,012,257 (GRCm39) |
S47R |
probably damaging |
Het |
| Or4k36 |
T |
C |
2: 111,146,343 (GRCm39) |
V173A |
probably benign |
Het |
| Or5p79 |
A |
C |
7: 108,221,817 (GRCm39) |
K266T |
possibly damaging |
Het |
| Osbp |
T |
C |
19: 11,948,142 (GRCm39) |
S150P |
probably damaging |
Het |
| Paf1 |
T |
C |
7: 28,096,247 (GRCm39) |
Y287H |
probably damaging |
Het |
| Pdgfrb |
T |
C |
18: 61,201,174 (GRCm39) |
V420A |
probably benign |
Het |
| Pdss1 |
G |
T |
2: 22,796,846 (GRCm39) |
E120* |
probably null |
Het |
| Pink1 |
A |
T |
4: 138,044,630 (GRCm39) |
V339E |
probably damaging |
Het |
| Pm20d1 |
G |
A |
1: 131,730,165 (GRCm39) |
V235I |
probably benign |
Het |
| Ppp2r2a |
A |
G |
14: 67,276,412 (GRCm39) |
I31T |
probably damaging |
Het |
| Rbms3 |
T |
C |
9: 116,651,894 (GRCm39) |
E152G |
probably damaging |
Het |
| Rfx1 |
A |
C |
8: 84,821,677 (GRCm39) |
Q804H |
probably damaging |
Het |
| Rpe |
G |
T |
1: 66,754,356 (GRCm39) |
V143L |
probably benign |
Het |
| Sap30l |
G |
T |
11: 57,700,771 (GRCm39) |
V142L |
probably benign |
Het |
| Sh3tc1 |
T |
C |
5: 35,863,268 (GRCm39) |
Q973R |
probably benign |
Het |
| Slc10a2 |
T |
C |
8: 5,154,856 (GRCm39) |
T110A |
probably damaging |
Het |
| Snrnp200 |
A |
T |
2: 127,060,947 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
G |
A |
2: 127,060,948 (GRCm39) |
|
probably null |
Het |
| Spaca3 |
T |
A |
11: 80,758,511 (GRCm39) |
V158E |
probably damaging |
Het |
| Sprtn |
C |
A |
8: 125,629,770 (GRCm39) |
N354K |
probably benign |
Het |
| Stab1 |
T |
A |
14: 30,863,101 (GRCm39) |
Y2166F |
possibly damaging |
Het |
| Tmem106c |
G |
A |
15: 97,866,548 (GRCm39) |
|
probably null |
Het |
| Tnc |
A |
G |
4: 63,918,168 (GRCm39) |
S1248P |
probably damaging |
Het |
| Tshr |
T |
C |
12: 91,504,090 (GRCm39) |
F343L |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,555,698 (GRCm39) |
A30436S |
probably damaging |
Het |
| Ubxn2a |
A |
T |
12: 4,935,839 (GRCm39) |
M68K |
probably benign |
Het |
| Ucp2 |
T |
C |
7: 100,148,021 (GRCm39) |
V238A |
probably damaging |
Het |
| Urgcp |
C |
A |
11: 5,667,242 (GRCm39) |
L365F |
probably damaging |
Het |
| Vezt |
A |
T |
10: 93,826,026 (GRCm39) |
D328E |
probably damaging |
Het |
| Vmn1r168 |
G |
T |
7: 23,240,184 (GRCm39) |
V14L |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,792,205 (GRCm39) |
F2158L |
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 |
|
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'- CTAGACACTGCAGGGTTCTG -3'
(R):5'- TCAAAGCCAAGGCCAGGATTG -3'
Sequencing Primer
(F):5'- ACTGCAGGGTTCTGAGACACTC -3'
(R):5'- CCAAGGCCAGGATTGTGTTC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation