Incidental Mutation 'R3967:Pkn2'
| ID |
312386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkn2
|
| Ensembl Gene |
ENSMUSG00000004591 |
| Gene Name |
protein kinase N2 |
| Synonyms |
Stk7, PRK2, Prkcl2, 6030436C20Rik |
| MMRRC Submission |
040838-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3967 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
142496663-142587765 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142515438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 658
(C658R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043812]
[ENSMUST00000173830]
[ENSMUST00000173913]
[ENSMUST00000174422]
|
| AlphaFold |
Q8BWW9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043812
AA Change: C658R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039566
Gene: ENSMUSG00000004591
AA Change: C658R
| 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 |
probably benign
Transcript: ENSMUST00000173615
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173830
AA Change: C610R
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000133691
Gene: ENSMUSG00000004591
AA Change: C610R
| 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 |
noncoding transcript
Transcript: ENSMUST00000174169
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174422
AA Change: C642R
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000134559
Gene: ENSMUSG00000004591
AA Change: C642R
| 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 |
|
| Meta Mutation Damage Score |
0.4736 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (44/44) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
G |
T |
8: 122,266,719 (GRCm39) |
Q56K |
possibly damaging |
Het |
| Adam18 |
C |
A |
8: 25,119,726 (GRCm39) |
V518L |
probably benign |
Het |
| Akap6 |
A |
T |
12: 53,188,236 (GRCm39) |
K1883N |
probably damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
| Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
| Ctnnd2 |
C |
A |
15: 30,647,075 (GRCm39) |
A257E |
possibly damaging |
Het |
| Depdc5 |
T |
A |
5: 33,101,459 (GRCm39) |
C322* |
probably null |
Het |
| Enpp7 |
T |
C |
11: 118,881,827 (GRCm39) |
I324T |
probably damaging |
Het |
| Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
| Gm6871 |
A |
T |
7: 41,196,148 (GRCm39) |
H196Q |
probably damaging |
Het |
| Gm9964 |
T |
C |
11: 79,187,202 (GRCm39) |
T82A |
unknown |
Het |
| Gria2 |
T |
A |
3: 80,618,084 (GRCm39) |
Q317L |
possibly damaging |
Het |
| Grtp1 |
G |
A |
8: 13,239,705 (GRCm39) |
T134I |
probably benign |
Het |
| Itpkb |
A |
T |
1: 180,155,363 (GRCm39) |
|
probably benign |
Het |
| Kbtbd12 |
A |
G |
6: 88,595,488 (GRCm39) |
V114A |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
| Myof |
C |
T |
19: 37,889,711 (GRCm39) |
V1287M |
probably damaging |
Het |
| Myof |
T |
G |
19: 38,011,058 (GRCm39) |
D60A |
possibly damaging |
Het |
| Narf |
A |
T |
11: 121,129,247 (GRCm39) |
E10D |
possibly damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
| Or10a3m |
A |
G |
7: 108,313,060 (GRCm39) |
M155V |
probably benign |
Het |
| Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
| Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,018,995 (GRCm39) |
F829L |
possibly damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Psd |
C |
T |
19: 46,312,845 (GRCm39) |
R175H |
probably benign |
Het |
| Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,318,494 (GRCm39) |
|
probably benign |
Het |
| Rnf39 |
C |
A |
17: 37,254,035 (GRCm39) |
T19K |
probably damaging |
Het |
| Slc16a3 |
C |
T |
11: 120,846,251 (GRCm39) |
T60M |
possibly damaging |
Het |
| Slc26a4 |
G |
T |
12: 31,578,686 (GRCm39) |
H656N |
probably damaging |
Het |
| Slc27a1 |
A |
G |
8: 72,032,431 (GRCm39) |
E184G |
probably damaging |
Het |
| Smc6 |
T |
C |
12: 11,348,327 (GRCm39) |
V742A |
probably benign |
Het |
| Thoc1 |
T |
A |
18: 9,968,787 (GRCm39) |
V186D |
probably damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,057,315 (GRCm39) |
V491A |
probably damaging |
Het |
| Uri1 |
A |
G |
7: 37,664,927 (GRCm39) |
V253A |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,327,154 (GRCm39) |
N587K |
probably benign |
Het |
| Vmn2r88 |
A |
T |
14: 51,650,647 (GRCm39) |
Y120F |
probably benign |
Het |
| Wwox |
G |
A |
8: 115,215,673 (GRCm39) |
A149T |
probably damaging |
Het |
| Zfp536 |
T |
C |
7: 37,173,255 (GRCm39) |
*282W |
probably null |
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 |
|
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 |
|
R9782:Pkn2
|
UTSW |
3 |
142,516,237 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTCGTGCCACAATGTCTC -3'
(R):5'- ATGAGCTGAGCATTCCTGAC -3'
Sequencing Primer
(F):5'- GTGCCACAATGTCTCCTTTCTTTAAG -3'
(R):5'- TGACTCAGGTCGAAGCTGCTG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation