Incidental Mutation 'R9782:Pkn2'
ID |
734103 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pkn2
|
Ensembl Gene |
ENSMUSG00000004591 |
Gene Name |
protein kinase N2 |
Synonyms |
Stk7, PRK2, Prkcl2, 6030436C20Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9782 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
142496663-142587765 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 142516237 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 562
(V562G)
|
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: V562G
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000039566 Gene: ENSMUSG00000004591 AA Change: V562G
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 |
probably benign
Transcript: ENSMUST00000173615
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173830
AA Change: V514G
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000133691 Gene: ENSMUSG00000004591 AA Change: V514G
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 |
probably benign
Transcript: ENSMUST00000174422
AA Change: V546G
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000134559 Gene: ENSMUSG00000004591 AA Change: V546G
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 |
probably benign
Transcript: ENSMUST00000174680
|
SMART Domains |
Protein: ENSMUSP00000134041 Gene: ENSMUSG00000004591
Domain | Start | End | E-Value | Type |
Hr1
|
1 |
67 |
1.33e-18 |
SMART |
C2
|
72 |
182 |
3.51e-2 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.1%
|
Validation Efficiency |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
T |
A |
5: 64,053,796 (GRCm39) |
M1K |
probably null |
Het |
Atoh8 |
A |
T |
6: 72,200,848 (GRCm39) |
L281M |
possibly damaging |
Het |
Bckdha |
A |
G |
7: 25,340,880 (GRCm39) |
|
probably null |
Het |
Chil6 |
A |
T |
3: 106,296,121 (GRCm39) |
Y371* |
probably null |
Het |
Cilk1 |
A |
T |
9: 78,048,520 (GRCm39) |
Q108L |
probably damaging |
Het |
Fbxw18 |
G |
T |
9: 109,522,376 (GRCm39) |
H164Q |
probably benign |
Het |
Gucd1 |
T |
G |
10: 75,345,650 (GRCm39) |
D135A |
probably benign |
Het |
Hacd1 |
A |
G |
2: 14,040,751 (GRCm39) |
I168T |
possibly damaging |
Het |
Hfm1 |
T |
C |
5: 107,021,896 (GRCm39) |
E1013G |
probably benign |
Het |
Hsf4 |
G |
A |
8: 105,999,217 (GRCm39) |
|
probably null |
Het |
Ift140 |
G |
T |
17: 25,264,151 (GRCm39) |
|
probably null |
Het |
Igsf3 |
A |
T |
3: 101,338,612 (GRCm39) |
I309F |
probably benign |
Het |
Imp4 |
T |
A |
1: 34,482,901 (GRCm39) |
L164Q |
probably damaging |
Het |
Jazf1 |
C |
T |
6: 52,747,311 (GRCm39) |
V204I |
probably benign |
Het |
Kmt2d |
T |
A |
15: 98,764,597 (GRCm39) |
D2V |
probably damaging |
Het |
Knl1 |
T |
C |
2: 118,899,910 (GRCm39) |
V537A |
probably benign |
Het |
Mep1b |
A |
T |
18: 21,208,720 (GRCm39) |
D32V |
possibly damaging |
Het |
Mki67 |
A |
G |
7: 135,306,066 (GRCm39) |
|
probably null |
Het |
Morn3 |
C |
T |
5: 123,175,822 (GRCm39) |
V189M |
probably damaging |
Het |
Mri1 |
C |
T |
8: 84,980,933 (GRCm39) |
C199Y |
possibly damaging |
Het |
Mtmr2 |
T |
C |
9: 13,713,293 (GRCm39) |
M490T |
probably benign |
Het |
Muc16 |
T |
C |
9: 18,548,066 (GRCm39) |
T6076A |
possibly damaging |
Het |
Myo1c |
A |
G |
11: 75,549,273 (GRCm39) |
E113G |
probably damaging |
Het |
Nat8f4 |
A |
T |
6: 85,878,052 (GRCm39) |
V157D |
probably damaging |
Het |
Nectin4 |
T |
C |
1: 171,214,192 (GRCm39) |
V449A |
probably damaging |
Het |
Ogdhl |
C |
T |
14: 32,061,909 (GRCm39) |
T528M |
probably damaging |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or4c100 |
G |
A |
2: 88,356,835 (GRCm39) |
V303M |
probably benign |
Het |
Or52l1 |
A |
G |
7: 104,830,067 (GRCm39) |
V166A |
probably damaging |
Het |
Pcdhb12 |
AT |
A |
18: 37,570,393 (GRCm39) |
|
probably null |
Het |
Pigo |
T |
C |
4: 43,023,475 (GRCm39) |
D233G |
probably damaging |
Het |
Plxna1 |
C |
A |
6: 89,333,817 (GRCm39) |
A271S |
probably benign |
Het |
Ppp1r3a |
C |
T |
6: 14,718,766 (GRCm39) |
S716N |
probably damaging |
Het |
Prss12 |
G |
A |
3: 123,271,762 (GRCm39) |
G256S |
probably benign |
Het |
Psg28 |
A |
T |
7: 18,164,331 (GRCm39) |
M127K |
probably benign |
Het |
Psmf1 |
T |
C |
2: 151,577,533 (GRCm39) |
D48G |
possibly damaging |
Het |
Rabggta |
T |
A |
14: 55,955,944 (GRCm39) |
M438L |
possibly damaging |
Het |
Rapgef3 |
T |
C |
15: 97,643,479 (GRCm39) |
I911V |
probably damaging |
Het |
Rbck1 |
T |
C |
2: 152,165,113 (GRCm39) |
E297G |
probably damaging |
Het |
Rras |
A |
T |
7: 44,669,945 (GRCm39) |
I126F |
probably damaging |
Het |
Slc22a28 |
T |
C |
19: 8,041,813 (GRCm39) |
R465G |
probably null |
Het |
Slc28a2b |
T |
A |
2: 122,352,338 (GRCm39) |
I365N |
probably damaging |
Het |
Snx19 |
A |
G |
9: 30,340,172 (GRCm39) |
T437A |
probably benign |
Het |
Son |
A |
T |
16: 91,444,838 (GRCm39) |
S15C |
probably damaging |
Het |
Spata31e1 |
C |
T |
13: 49,939,542 (GRCm39) |
V723M |
possibly damaging |
Het |
Sptbn4 |
G |
T |
7: 27,107,993 (GRCm39) |
Q810K |
probably benign |
Het |
Tmtc2 |
T |
C |
10: 105,026,062 (GRCm39) |
Y802C |
probably damaging |
Het |
Trrap |
T |
A |
5: 144,758,716 (GRCm39) |
M2181K |
probably damaging |
Het |
Ttc23l |
A |
G |
15: 10,530,767 (GRCm39) |
S282P |
probably damaging |
Het |
Zbtb7a |
G |
A |
10: 80,979,910 (GRCm39) |
D35N |
probably damaging |
Het |
Zc3h3 |
C |
A |
15: 75,681,489 (GRCm39) |
V531L |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,466,514 (GRCm39) |
D2249G |
probably benign |
Het |
Zfp87 |
T |
C |
13: 74,520,932 (GRCm39) |
K49E |
probably benign |
Het |
Zfp942 |
T |
C |
17: 22,147,463 (GRCm39) |
T389A |
probably benign |
Het |
|
Other mutations in Pkn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00510:Pkn2
|
APN |
3 |
142,504,780 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00852:Pkn2
|
APN |
3 |
142,515,577 (GRCm39) |
unclassified |
probably benign |
|
IGL00917:Pkn2
|
APN |
3 |
142,559,386 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01147:Pkn2
|
APN |
3 |
142,534,770 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01556:Pkn2
|
APN |
3 |
142,535,078 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01574:Pkn2
|
APN |
3 |
142,544,992 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02058:Pkn2
|
APN |
3 |
142,509,424 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02136:Pkn2
|
APN |
3 |
142,559,351 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02310:Pkn2
|
APN |
3 |
142,517,341 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02540:Pkn2
|
APN |
3 |
142,515,465 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02607:Pkn2
|
APN |
3 |
142,499,862 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03256:Pkn2
|
APN |
3 |
142,509,311 (GRCm39) |
splice site |
probably null |
|
voodoo
|
UTSW |
3 |
142,559,299 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0001:Pkn2
|
UTSW |
3 |
142,534,749 (GRCm39) |
missense |
probably benign |
0.00 |
R0048:Pkn2
|
UTSW |
3 |
142,516,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R0081:Pkn2
|
UTSW |
3 |
142,559,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R0514:Pkn2
|
UTSW |
3 |
142,516,219 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0670:Pkn2
|
UTSW |
3 |
142,545,104 (GRCm39) |
missense |
probably damaging |
0.99 |
R0709:Pkn2
|
UTSW |
3 |
142,536,281 (GRCm39) |
missense |
probably damaging |
0.98 |
R1025:Pkn2
|
UTSW |
3 |
142,527,326 (GRCm39) |
critical splice donor site |
probably null |
|
R1190:Pkn2
|
UTSW |
3 |
142,517,286 (GRCm39) |
critical splice donor site |
probably null |
|
R1602:Pkn2
|
UTSW |
3 |
142,559,299 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1729:Pkn2
|
UTSW |
3 |
142,516,462 (GRCm39) |
missense |
probably benign |
0.00 |
R1756:Pkn2
|
UTSW |
3 |
142,516,488 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1764:Pkn2
|
UTSW |
3 |
142,499,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R1797:Pkn2
|
UTSW |
3 |
142,515,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R1833:Pkn2
|
UTSW |
3 |
142,527,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R2035:Pkn2
|
UTSW |
3 |
142,526,348 (GRCm39) |
missense |
probably damaging |
0.99 |
R2058:Pkn2
|
UTSW |
3 |
142,559,232 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3779:Pkn2
|
UTSW |
3 |
142,499,741 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3940:Pkn2
|
UTSW |
3 |
142,499,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R3967:Pkn2
|
UTSW |
3 |
142,515,438 (GRCm39) |
missense |
probably damaging |
0.98 |
R4008:Pkn2
|
UTSW |
3 |
142,516,219 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4160:Pkn2
|
UTSW |
3 |
142,509,325 (GRCm39) |
missense |
probably benign |
0.42 |
R4222:Pkn2
|
UTSW |
3 |
142,499,627 (GRCm39) |
nonsense |
probably null |
|
R4243:Pkn2
|
UTSW |
3 |
142,526,339 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4380:Pkn2
|
UTSW |
3 |
142,536,217 (GRCm39) |
unclassified |
probably benign |
|
R4826:Pkn2
|
UTSW |
3 |
142,515,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R4869:Pkn2
|
UTSW |
3 |
142,509,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R5096:Pkn2
|
UTSW |
3 |
142,545,092 (GRCm39) |
missense |
probably damaging |
0.99 |
R5175:Pkn2
|
UTSW |
3 |
142,504,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R5301:Pkn2
|
UTSW |
3 |
142,544,967 (GRCm39) |
critical splice donor site |
probably null |
|
R5839:Pkn2
|
UTSW |
3 |
142,527,290 (GRCm39) |
missense |
probably benign |
0.02 |
R6155:Pkn2
|
UTSW |
3 |
142,559,454 (GRCm39) |
missense |
probably benign |
0.00 |
R6198:Pkn2
|
UTSW |
3 |
142,516,165 (GRCm39) |
missense |
probably benign |
0.00 |
R6255:Pkn2
|
UTSW |
3 |
142,517,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R6293:Pkn2
|
UTSW |
3 |
142,515,465 (GRCm39) |
missense |
probably benign |
0.15 |
R6494:Pkn2
|
UTSW |
3 |
142,509,429 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6659:Pkn2
|
UTSW |
3 |
142,509,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R6809:Pkn2
|
UTSW |
3 |
142,504,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R7267:Pkn2
|
UTSW |
3 |
142,517,776 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7367:Pkn2
|
UTSW |
3 |
142,516,488 (GRCm39) |
missense |
probably benign |
0.00 |
R7746:Pkn2
|
UTSW |
3 |
142,499,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R7940:Pkn2
|
UTSW |
3 |
142,516,480 (GRCm39) |
missense |
probably benign |
0.00 |
R8324:Pkn2
|
UTSW |
3 |
142,534,771 (GRCm39) |
missense |
probably benign |
0.15 |
R8847:Pkn2
|
UTSW |
3 |
142,526,401 (GRCm39) |
missense |
probably benign |
0.29 |
R8947:Pkn2
|
UTSW |
3 |
142,517,674 (GRCm39) |
critical splice donor site |
probably null |
|
R9096:Pkn2
|
UTSW |
3 |
142,515,249 (GRCm39) |
missense |
probably benign |
0.03 |
R9097:Pkn2
|
UTSW |
3 |
142,515,249 (GRCm39) |
missense |
probably benign |
0.03 |
R9130:Pkn2
|
UTSW |
3 |
142,515,245 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9226:Pkn2
|
UTSW |
3 |
142,499,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R9267:Pkn2
|
UTSW |
3 |
142,517,676 (GRCm39) |
missense |
probably null |
0.97 |
R9277:Pkn2
|
UTSW |
3 |
142,516,509 (GRCm39) |
missense |
probably benign |
0.01 |
R9308:Pkn2
|
UTSW |
3 |
142,517,724 (GRCm39) |
missense |
probably benign |
0.21 |
R9372:Pkn2
|
UTSW |
3 |
142,535,018 (GRCm39) |
missense |
probably damaging |
0.99 |
R9551:Pkn2
|
UTSW |
3 |
142,499,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R9552:Pkn2
|
UTSW |
3 |
142,499,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCAATGTACATGTTAGCCAC -3'
(R):5'- GGCCAGGTACTTGTCTTAGAAG -3'
Sequencing Primer
(F):5'- AATGTACATGTTAGCCACTATAATGG -3'
(R):5'- AAGGCTTGAGTGTATCTTCCATAGCC -3'
|
Posted On |
2022-11-14 |