Incidental Mutation 'R6494:Pkn2'
| ID |
522934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkn2
|
| Ensembl Gene |
ENSMUSG00000004591 |
| Gene Name |
protein kinase N2 |
| Synonyms |
PRK2, Stk7, Prkcl2, 6030436C20Rik |
| MMRRC Submission |
044626-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6494 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
142790902-142882004 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 142803668 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 721
(N721S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043812]
[ENSMUST00000173830]
[ENSMUST00000173913]
[ENSMUST00000174422]
|
| AlphaFold |
Q8BWW9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043812
AA Change: N721S
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039566
Gene: ENSMUSG00000004591
AA Change: N721S
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
47 |
110 |
3.61e-20 |
SMART |
|
Hr1
|
136 |
204 |
6.1e-18 |
SMART |
|
Hr1
|
217 |
285 |
6.05e-22 |
SMART |
|
C2
|
329 |
462 |
2.72e-8 |
SMART |
|
low complexity region
|
535 |
546 |
N/A |
INTRINSIC |
|
low complexity region
|
570 |
578 |
N/A |
INTRINSIC |
|
S_TKc
|
656 |
915 |
7.94e-100 |
SMART |
|
S_TK_X
|
916 |
980 |
6.77e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172521
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173830
AA Change: N673S
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133691
Gene: ENSMUSG00000004591
AA Change: N673S
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
47 |
110 |
3.61e-20 |
SMART |
|
Hr1
|
136 |
204 |
6.1e-18 |
SMART |
|
Hr1
|
217 |
285 |
6.05e-22 |
SMART |
|
low complexity region
|
364 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
530 |
N/A |
INTRINSIC |
|
S_TKc
|
608 |
867 |
7.94e-100 |
SMART |
|
S_TK_X
|
868 |
932 |
6.77e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173913
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174422
AA Change: N705S
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134559
Gene: ENSMUSG00000004591
AA Change: N705S
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
47 |
110 |
3.61e-20 |
SMART |
|
Hr1
|
136 |
204 |
6.1e-18 |
SMART |
|
Hr1
|
217 |
285 |
6.05e-22 |
SMART |
|
C2
|
329 |
446 |
2.92e-8 |
SMART |
|
low complexity region
|
519 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
554 |
562 |
N/A |
INTRINSIC |
|
S_TKc
|
640 |
899 |
7.94e-100 |
SMART |
|
S_TK_X
|
900 |
964 |
6.77e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200315
|
| Meta Mutation Damage Score |
0.0961 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.4%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display embryonic lethality during organogenesis with impaired mesenchymal cell proliferation and neural crest cell migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700022I11Rik |
A |
G |
4: 42,971,924 (GRCm38) |
N419S |
possibly damaging |
Het |
| Akt2 |
T |
C |
7: 27,616,349 (GRCm38) |
L52P |
possibly damaging |
Het |
| Chd1l |
G |
A |
3: 97,587,167 (GRCm38) |
A399V |
probably damaging |
Het |
| Chic2 |
T |
C |
5: 75,044,282 (GRCm38) |
E6G |
probably benign |
Het |
| Clca4a |
T |
A |
3: 144,957,298 (GRCm38) |
T597S |
probably benign |
Het |
| Col5a2 |
C |
A |
1: 45,378,327 (GRCm38) |
D1363Y |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,211,695 (GRCm38) |
|
probably null |
Het |
| Dnah7b |
A |
T |
1: 46,099,431 (GRCm38) |
Y211F |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 105,100,019 (GRCm38) |
Y5460F |
possibly damaging |
Het |
| Efcab6 |
T |
A |
15: 84,044,322 (GRCm38) |
|
probably null |
Het |
| Eno4 |
T |
A |
19: 58,962,794 (GRCm38) |
Y237N |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 156,045,470 (GRCm38) |
D602V |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 130,198,550 (GRCm38) |
N337S |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,759,564 (GRCm38) |
R3203C |
possibly damaging |
Het |
| Gbp2 |
T |
A |
3: 142,632,008 (GRCm38) |
V295E |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,464,305 (GRCm38) |
|
probably benign |
Het |
| Hyal4 |
A |
G |
6: 24,765,746 (GRCm38) |
I366M |
possibly damaging |
Het |
| Itsn2 |
C |
T |
12: 4,634,792 (GRCm38) |
R448* |
probably null |
Het |
| Klhl35 |
G |
T |
7: 99,472,899 (GRCm38) |
W69L |
probably damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,181,648 (GRCm38) |
I154V |
probably benign |
Het |
| Lax1 |
T |
A |
1: 133,680,448 (GRCm38) |
Y185F |
probably damaging |
Het |
| Mmp12 |
C |
T |
9: 7,353,479 (GRCm38) |
P208L |
probably damaging |
Het |
| Ndufb8 |
C |
T |
19: 44,555,305 (GRCm38) |
V33M |
probably null |
Het |
| Nptn |
T |
G |
9: 58,623,752 (GRCm38) |
C169G |
probably damaging |
Het |
| Nuggc |
A |
T |
14: 65,648,222 (GRCm38) |
E766V |
probably damaging |
Het |
| Olfr1117-ps1 |
A |
T |
2: 87,309,176 (GRCm38) |
N149I |
possibly damaging |
Het |
| Olfr1150-ps1 |
A |
T |
2: 87,357,632 (GRCm38) |
K63* |
probably null |
Het |
| Pcdhga6 |
T |
A |
18: 37,708,541 (GRCm38) |
I438N |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,324,722 (GRCm38) |
W1590R |
possibly damaging |
Het |
| Prph2 |
A |
G |
17: 46,911,081 (GRCm38) |
T129A |
probably benign |
Het |
| Ptpro |
A |
T |
6: 137,382,642 (GRCm38) |
K403N |
probably benign |
Het |
| Rbck1 |
T |
C |
2: 152,330,966 (GRCm38) |
D54G |
possibly damaging |
Het |
| Serpinb7 |
T |
A |
1: 107,435,346 (GRCm38) |
L80* |
probably null |
Het |
| Setdb2 |
T |
A |
14: 59,402,414 (GRCm38) |
Y676F |
probably benign |
Het |
| Skint1 |
G |
T |
4: 112,010,712 (GRCm38) |
C12F |
probably benign |
Het |
| Slc22a26 |
T |
A |
19: 7,802,286 (GRCm38) |
D55V |
probably damaging |
Het |
| Slc9a8 |
G |
A |
2: 167,424,291 (GRCm38) |
V63I |
probably damaging |
Het |
| Sox2 |
T |
A |
3: 34,651,097 (GRCm38) |
S228T |
probably benign |
Het |
| Spg11 |
A |
G |
2: 122,113,225 (GRCm38) |
S149P |
probably damaging |
Het |
| Tbc1d19 |
T |
A |
5: 53,829,383 (GRCm38) |
S45T |
probably benign |
Het |
| Tsacc |
T |
C |
3: 88,295,396 (GRCm38) |
E11G |
probably benign |
Het |
| Ttc7b |
C |
T |
12: 100,495,407 (GRCm38) |
A104T |
possibly damaging |
Het |
| Uox |
C |
T |
3: 146,624,577 (GRCm38) |
R163* |
probably null |
Het |
| Zfp108 |
T |
A |
7: 24,261,357 (GRCm38) |
F458I |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 74,085,192 (GRCm38) |
K762N |
probably damaging |
Het |
|
| Other mutations in Pkn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00510:Pkn2
|
APN |
3 |
142,799,019 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00852:Pkn2
|
APN |
3 |
142,809,816 (GRCm38) |
unclassified |
probably benign |
|
|
IGL00917:Pkn2
|
APN |
3 |
142,853,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01147:Pkn2
|
APN |
3 |
142,829,009 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01556:Pkn2
|
APN |
3 |
142,829,317 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL01574:Pkn2
|
APN |
3 |
142,839,231 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL02058:Pkn2
|
APN |
3 |
142,803,663 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02136:Pkn2
|
APN |
3 |
142,853,590 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02310:Pkn2
|
APN |
3 |
142,811,580 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02540:Pkn2
|
APN |
3 |
142,809,704 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02607:Pkn2
|
APN |
3 |
142,794,101 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03256:Pkn2
|
APN |
3 |
142,803,550 (GRCm38) |
splice site |
probably null |
|
|
voodoo
|
UTSW |
3 |
142,853,538 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R0001:Pkn2
|
UTSW |
3 |
142,828,988 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0048:Pkn2
|
UTSW |
3 |
142,810,827 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0081:Pkn2
|
UTSW |
3 |
142,853,582 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0514:Pkn2
|
UTSW |
3 |
142,810,458 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R0670:Pkn2
|
UTSW |
3 |
142,839,343 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0709:Pkn2
|
UTSW |
3 |
142,830,520 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1025:Pkn2
|
UTSW |
3 |
142,821,565 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1190:Pkn2
|
UTSW |
3 |
142,811,525 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1602:Pkn2
|
UTSW |
3 |
142,853,538 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R1729:Pkn2
|
UTSW |
3 |
142,810,701 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1756:Pkn2
|
UTSW |
3 |
142,810,727 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1764:Pkn2
|
UTSW |
3 |
142,793,854 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1797:Pkn2
|
UTSW |
3 |
142,809,528 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1833:Pkn2
|
UTSW |
3 |
142,821,647 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2035:Pkn2
|
UTSW |
3 |
142,820,587 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2058:Pkn2
|
UTSW |
3 |
142,853,471 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3779:Pkn2
|
UTSW |
3 |
142,793,980 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R3940:Pkn2
|
UTSW |
3 |
142,793,911 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3967:Pkn2
|
UTSW |
3 |
142,809,677 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4008:Pkn2
|
UTSW |
3 |
142,810,458 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R4160:Pkn2
|
UTSW |
3 |
142,803,564 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4222:Pkn2
|
UTSW |
3 |
142,793,866 (GRCm38) |
nonsense |
probably null |
|
|
R4243:Pkn2
|
UTSW |
3 |
142,820,578 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R4380:Pkn2
|
UTSW |
3 |
142,830,456 (GRCm38) |
unclassified |
probably benign |
|
|
R4826:Pkn2
|
UTSW |
3 |
142,809,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4869:Pkn2
|
UTSW |
3 |
142,803,618 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5096:Pkn2
|
UTSW |
3 |
142,839,331 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5175:Pkn2
|
UTSW |
3 |
142,798,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5301:Pkn2
|
UTSW |
3 |
142,839,206 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5839:Pkn2
|
UTSW |
3 |
142,821,529 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6155:Pkn2
|
UTSW |
3 |
142,853,693 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6198:Pkn2
|
UTSW |
3 |
142,810,404 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6255:Pkn2
|
UTSW |
3 |
142,811,599 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6293:Pkn2
|
UTSW |
3 |
142,809,704 (GRCm38) |
missense |
probably benign |
0.15 |
|
R6659:Pkn2
|
UTSW |
3 |
142,803,587 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6809:Pkn2
|
UTSW |
3 |
142,799,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7267:Pkn2
|
UTSW |
3 |
142,812,015 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7367:Pkn2
|
UTSW |
3 |
142,810,727 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7746:Pkn2
|
UTSW |
3 |
142,794,107 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7940:Pkn2
|
UTSW |
3 |
142,810,719 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8324:Pkn2
|
UTSW |
3 |
142,829,010 (GRCm38) |
missense |
probably benign |
0.15 |
|
R8847:Pkn2
|
UTSW |
3 |
142,820,640 (GRCm38) |
missense |
probably benign |
0.29 |
|
R8947:Pkn2
|
UTSW |
3 |
142,811,913 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9096:Pkn2
|
UTSW |
3 |
142,809,488 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9097:Pkn2
|
UTSW |
3 |
142,809,488 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9130:Pkn2
|
UTSW |
3 |
142,809,484 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R9226:Pkn2
|
UTSW |
3 |
142,793,948 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9267:Pkn2
|
UTSW |
3 |
142,811,915 (GRCm38) |
missense |
probably null |
0.97 |
|
R9277:Pkn2
|
UTSW |
3 |
142,810,748 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9308:Pkn2
|
UTSW |
3 |
142,811,963 (GRCm38) |
missense |
probably benign |
0.21 |
|
R9372:Pkn2
|
UTSW |
3 |
142,829,257 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9551:Pkn2
|
UTSW |
3 |
142,793,833 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9552:Pkn2
|
UTSW |
3 |
142,793,833 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9782:Pkn2
|
UTSW |
3 |
142,810,476 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTAAACGTAACCTCAGTTGTATC -3'
(R):5'- AGCCCCATTTGTGCTAGGAG -3'
Sequencing Primer
(F):5'- GGTAACTCACAAAATTTTCAACAAGG -3'
(R):5'- CCCATTTGTGCTAGGAGTTTATATTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation