Incidental Mutation 'R6724:Pkn3'
| ID |
529735 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkn3
|
| Ensembl Gene |
ENSMUSG00000026785 |
| Gene Name |
protein kinase N3 |
| Synonyms |
|
| MMRRC Submission |
044842-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6724 (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 29980562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 818
(R818S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045246]
[ENSMUST00000081838]
[ENSMUST00000102865]
|
| AlphaFold |
Q8K045 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045246
AA Change: R818S
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: R818S
| 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: 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 |
0.6123 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (63/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
T |
A |
16: 85,665,445 (GRCm39) |
T619S |
probably benign |
Het |
| Adgra2 |
G |
A |
8: 27,604,210 (GRCm39) |
A467T |
possibly damaging |
Het |
| Alox5 |
A |
T |
6: 116,391,509 (GRCm39) |
I416N |
probably damaging |
Het |
| Blmh |
A |
G |
11: 76,862,733 (GRCm39) |
|
probably null |
Het |
| Cftr |
T |
A |
6: 18,255,973 (GRCm39) |
Y567* |
probably null |
Het |
| Cnr1 |
T |
A |
4: 33,944,728 (GRCm39) |
M372K |
possibly damaging |
Het |
| Col6a3 |
T |
C |
1: 90,706,874 (GRCm39) |
T2080A |
unknown |
Het |
| Crybg3 |
A |
T |
16: 59,364,501 (GRCm39) |
C2374S |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,457,164 (GRCm39) |
I3544V |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,518,180 (GRCm39) |
D1809V |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dnajb12 |
A |
G |
10: 59,728,602 (GRCm39) |
D190G |
possibly damaging |
Het |
| Dtnb |
T |
A |
12: 3,736,817 (GRCm39) |
V319D |
probably damaging |
Het |
| Eif1ad6 |
A |
T |
12: 87,668,754 (GRCm39) |
I129F |
unknown |
Het |
| Ercc6 |
A |
T |
14: 32,288,288 (GRCm39) |
E820V |
probably benign |
Het |
| Fip1l1 |
T |
G |
5: 74,752,435 (GRCm39) |
V378G |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,911,552 (GRCm39) |
Y358F |
possibly damaging |
Het |
| Gcn1 |
T |
G |
5: 115,747,217 (GRCm39) |
|
probably null |
Het |
| Gm11011 |
T |
A |
2: 169,429,402 (GRCm39) |
T28S |
unknown |
Het |
| Guf1 |
C |
A |
5: 69,723,736 (GRCm39) |
N438K |
probably damaging |
Het |
| Hoxa7 |
T |
C |
6: 52,192,719 (GRCm39) |
E223G |
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,242,618 (GRCm39) |
G611E |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,711,473 (GRCm39) |
|
probably null |
Het |
| Isl2 |
A |
G |
9: 55,448,572 (GRCm39) |
D3G |
possibly damaging |
Het |
| Kcnb2 |
A |
G |
1: 15,780,664 (GRCm39) |
Y512C |
probably damaging |
Het |
| Kifc1 |
T |
A |
17: 34,105,707 (GRCm39) |
|
probably null |
Het |
| Klhdc10 |
A |
G |
6: 30,446,640 (GRCm39) |
D183G |
probably damaging |
Het |
| Klra5 |
T |
A |
6: 129,883,643 (GRCm39) |
K71N |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,463,504 (GRCm39) |
H559R |
possibly damaging |
Het |
| Maml3 |
T |
C |
3: 51,763,296 (GRCm39) |
N556S |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 65,038,264 (GRCm39) |
I83V |
possibly damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,884,786 (GRCm39) |
S293P |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,535,479 (GRCm39) |
S1282P |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,096,828 (GRCm39) |
|
probably benign |
Het |
| Or4a72 |
A |
T |
2: 89,405,309 (GRCm39) |
F254I |
probably benign |
Het |
| Or4c108 |
T |
G |
2: 88,803,612 (GRCm39) |
I208L |
probably benign |
Het |
| Or8u10 |
A |
T |
2: 85,915,701 (GRCm39) |
V140E |
possibly damaging |
Het |
| Or9m1 |
T |
G |
2: 87,733,946 (GRCm39) |
S25R |
probably benign |
Het |
| Plekha3 |
T |
A |
2: 76,517,745 (GRCm39) |
H190Q |
probably damaging |
Het |
| Ppp2r3c |
A |
T |
12: 55,335,281 (GRCm39) |
S261T |
probably benign |
Het |
| Ptprj |
T |
C |
2: 90,281,195 (GRCm39) |
D1015G |
probably benign |
Het |
| Pus10 |
T |
C |
11: 23,679,037 (GRCm39) |
M503T |
possibly damaging |
Het |
| Pvr |
T |
C |
7: 19,652,604 (GRCm39) |
R104G |
possibly damaging |
Het |
| Rubcnl |
A |
G |
14: 75,289,450 (GRCm39) |
R653G |
probably benign |
Het |
| Semp2l2a |
A |
T |
8: 13,887,083 (GRCm39) |
L336Q |
probably damaging |
Het |
| Serpina1a |
G |
T |
12: 103,826,679 (GRCm39) |
|
probably benign |
Het |
| Shank3 |
G |
A |
15: 89,416,656 (GRCm39) |
R265Q |
probably damaging |
Het |
| Slc22a22 |
C |
T |
15: 57,110,928 (GRCm39) |
R433H |
probably damaging |
Het |
| Slc22a26 |
A |
G |
19: 7,779,726 (GRCm39) |
I30T |
probably benign |
Het |
| Spz1 |
A |
T |
13: 92,711,992 (GRCm39) |
N161K |
possibly damaging |
Het |
| Tacc2 |
A |
G |
7: 130,330,492 (GRCm39) |
R259G |
probably damaging |
Het |
| Top1 |
G |
A |
2: 160,554,616 (GRCm39) |
V456M |
probably damaging |
Het |
| Tpcn2 |
G |
A |
7: 144,810,257 (GRCm39) |
A649V |
probably benign |
Het |
| Trank1 |
C |
G |
9: 111,194,984 (GRCm39) |
R1003G |
probably damaging |
Het |
| Tril |
T |
A |
6: 53,796,559 (GRCm39) |
H221L |
possibly damaging |
Het |
| Unc79 |
C |
T |
12: 103,071,120 (GRCm39) |
T1305I |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,722,350 (GRCm39) |
A2988V |
possibly damaging |
Het |
| Vinac1 |
A |
C |
2: 128,879,976 (GRCm39) |
V650G |
probably benign |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,599 (GRCm39) |
M3K |
probably damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,603,466 (GRCm39) |
D548V |
probably damaging |
Het |
| Vwa3b |
G |
A |
1: 37,084,112 (GRCm39) |
R95Q |
probably damaging |
Het |
| Wdr6 |
G |
A |
9: 108,452,093 (GRCm39) |
H597Y |
probably benign |
Het |
| Yme1l1 |
C |
T |
2: 23,084,774 (GRCm39) |
T624I |
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 |
|
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 |
|
|
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'- CCGAGGAGATCAAGGTTCAAC -3'
(R):5'- ACATGGTTACGTGGAGGCTTC -3'
Sequencing Primer
(F):5'- CAAGGTTCAACCATTCTTCAGGG -3'
(R):5'- TGAAGTGCCAGGAGACCCTC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation