Incidental Mutation 'R0709:Pkn2'
| ID |
216223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkn2
|
| Ensembl Gene |
ENSMUSG00000004591 |
| Gene Name |
protein kinase N2 |
| Synonyms |
Stk7, PRK2, Prkcl2, 6030436C20Rik |
| MMRRC Submission |
038892-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0709 (G1)
|
| Quality Score |
40 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
142496663-142587765 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 142536281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 200
(T200I)
|
| 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: T200I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039566
Gene: ENSMUSG00000004591
AA Change: T200I
| 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 |
noncoding transcript
Transcript: ENSMUST00000172916
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173830
AA Change: T200I
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133691
Gene: ENSMUSG00000004591
AA Change: T200I
| 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: ENSMUST00000174099
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174422
AA Change: T200I
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134559
Gene: ENSMUSG00000004591
AA Change: T200I
| 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 |
0.0819 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
98% (83/85) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
A |
T |
16: 14,436,358 (GRCm39) |
D137V |
probably damaging |
Het |
| Aar2 |
C |
T |
2: 156,408,930 (GRCm39) |
P378L |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,195,342 (GRCm39) |
H718Q |
possibly damaging |
Het |
| Ace |
G |
T |
11: 105,872,364 (GRCm39) |
L319F |
probably damaging |
Het |
| Angpt4 |
C |
A |
2: 151,776,434 (GRCm39) |
P321T |
possibly damaging |
Het |
| Atrip |
T |
C |
9: 108,896,171 (GRCm39) |
N282S |
probably benign |
Het |
| AW554918 |
A |
C |
18: 25,596,711 (GRCm39) |
S525R |
probably damaging |
Het |
| Ccdc136 |
T |
A |
6: 29,414,969 (GRCm39) |
I644N |
possibly damaging |
Het |
| Ccdc178 |
A |
G |
18: 22,200,719 (GRCm39) |
Y413H |
probably damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,863,127 (GRCm39) |
H223R |
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,579,260 (GRCm39) |
V634A |
possibly damaging |
Het |
| Col7a1 |
T |
A |
9: 108,790,616 (GRCm39) |
|
probably benign |
Het |
| Copb2 |
A |
T |
9: 98,445,220 (GRCm39) |
|
probably benign |
Het |
| Csrnp3 |
C |
T |
2: 65,852,907 (GRCm39) |
S445L |
probably damaging |
Het |
| Cxcl13 |
G |
T |
5: 96,106,530 (GRCm39) |
C34F |
probably damaging |
Het |
| Dars2 |
T |
C |
1: 160,874,498 (GRCm39) |
E397G |
probably benign |
Het |
| Dlg5 |
C |
T |
14: 24,196,323 (GRCm39) |
V1625M |
probably damaging |
Het |
| Dnah12 |
T |
G |
14: 26,606,222 (GRCm39) |
|
probably benign |
Het |
| Eif4a1 |
C |
A |
11: 69,561,078 (GRCm39) |
A76S |
probably damaging |
Het |
| Fam162b |
T |
A |
10: 51,463,347 (GRCm39) |
I107L |
probably damaging |
Het |
| Fbxo30 |
G |
T |
10: 11,167,057 (GRCm39) |
C593F |
possibly damaging |
Het |
| Fut9 |
A |
G |
4: 25,620,359 (GRCm39) |
F152L |
probably damaging |
Het |
| Galnt2 |
G |
A |
8: 125,070,085 (GRCm39) |
G534D |
probably benign |
Het |
| Gm973 |
C |
T |
1: 59,597,393 (GRCm39) |
|
probably benign |
Het |
| Golm2 |
T |
A |
2: 121,697,906 (GRCm39) |
V74E |
probably damaging |
Het |
| Gprc5a |
T |
A |
6: 135,055,948 (GRCm39) |
S132T |
probably damaging |
Het |
| Hk3 |
G |
A |
13: 55,162,543 (GRCm39) |
R47C |
probably damaging |
Het |
| Hrnr |
A |
T |
3: 93,239,815 (GRCm39) |
Q3351L |
unknown |
Het |
| Icam1 |
T |
A |
9: 20,930,423 (GRCm39) |
F92L |
probably damaging |
Het |
| Ifi213 |
C |
T |
1: 173,417,366 (GRCm39) |
V349I |
possibly damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,275,888 (GRCm39) |
|
probably benign |
Het |
| Irx3 |
A |
G |
8: 92,526,048 (GRCm39) |
V487A |
possibly damaging |
Het |
| Kalrn |
A |
G |
16: 33,855,924 (GRCm39) |
V204A |
probably damaging |
Het |
| Krt16 |
T |
C |
11: 100,137,280 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,492,665 (GRCm39) |
V1369I |
probably benign |
Het |
| Med13 |
T |
A |
11: 86,210,422 (GRCm39) |
K573N |
possibly damaging |
Het |
| Mnat1 |
A |
G |
12: 73,234,962 (GRCm39) |
R204G |
possibly damaging |
Het |
| Myt1l |
A |
T |
12: 29,877,732 (GRCm39) |
D461V |
unknown |
Het |
| Nek6 |
T |
A |
2: 38,447,858 (GRCm39) |
S41T |
probably damaging |
Het |
| Nudt22 |
T |
C |
19: 6,970,874 (GRCm39) |
E232G |
probably damaging |
Het |
| Numbl |
C |
A |
7: 26,973,415 (GRCm39) |
F192L |
probably damaging |
Het |
| Or4c105 |
C |
T |
2: 88,648,226 (GRCm39) |
T237I |
probably benign |
Het |
| Or7g12 |
T |
A |
9: 18,899,422 (GRCm39) |
I46K |
probably damaging |
Het |
| P2rx4 |
T |
C |
5: 122,852,467 (GRCm39) |
V47A |
probably damaging |
Het |
| Phka1 |
T |
A |
X: 101,629,710 (GRCm39) |
I478F |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,593,698 (GRCm39) |
|
probably null |
Het |
| Polg2 |
C |
T |
11: 106,659,239 (GRCm39) |
G425R |
probably damaging |
Het |
| Ptprm |
G |
T |
17: 67,251,327 (GRCm39) |
|
probably null |
Het |
| Reg1 |
G |
A |
6: 78,405,101 (GRCm39) |
R108H |
possibly damaging |
Het |
| Slc19a2 |
T |
A |
1: 164,084,367 (GRCm39) |
F86I |
probably damaging |
Het |
| Slc26a11 |
T |
C |
11: 119,265,603 (GRCm39) |
L372P |
probably damaging |
Het |
| Slc2a4 |
C |
T |
11: 69,836,985 (GRCm39) |
V28M |
possibly damaging |
Het |
| Snap29 |
A |
G |
16: 17,224,012 (GRCm39) |
N9S |
probably damaging |
Het |
| Snd1 |
C |
G |
6: 28,545,469 (GRCm39) |
|
probably benign |
Het |
| Sorcs3 |
G |
A |
19: 48,475,845 (GRCm39) |
A235T |
probably benign |
Het |
| Sp100 |
T |
A |
1: 85,622,002 (GRCm39) |
N362K |
probably damaging |
Het |
| Sqor |
A |
T |
2: 122,641,775 (GRCm39) |
I32F |
probably benign |
Het |
| Stx6 |
C |
T |
1: 155,069,040 (GRCm39) |
R189C |
probably damaging |
Het |
| Tchp |
T |
C |
5: 114,855,514 (GRCm39) |
I298T |
probably damaging |
Het |
| Themis |
A |
G |
10: 28,637,570 (GRCm39) |
I225V |
probably benign |
Het |
| Timm50 |
A |
T |
7: 28,006,366 (GRCm39) |
V245E |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,908,328 (GRCm39) |
E1327G |
probably damaging |
Het |
| Tpp1 |
C |
T |
7: 105,398,814 (GRCm39) |
R205H |
probably benign |
Het |
| Tradd |
T |
C |
8: 105,987,276 (GRCm39) |
E10G |
possibly damaging |
Het |
| Trim43a |
G |
A |
9: 88,464,199 (GRCm39) |
E37K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,729,747 (GRCm39) |
|
probably benign |
Het |
| Ttr |
A |
T |
18: 20,803,034 (GRCm39) |
|
probably null |
Het |
| Ubp1 |
A |
G |
9: 113,773,999 (GRCm39) |
Y66C |
probably damaging |
Het |
| Vmn2r102 |
A |
T |
17: 19,897,881 (GRCm39) |
M299L |
probably benign |
Het |
| Vmn2r104 |
A |
T |
17: 20,263,166 (GRCm39) |
N98K |
probably damaging |
Het |
| Yipf5 |
A |
G |
18: 40,340,825 (GRCm39) |
S176P |
probably benign |
Het |
| Zpbp2 |
C |
T |
11: 98,444,763 (GRCm39) |
T97I |
probably damaging |
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 |
|
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 |
|
R9782:Pkn2
|
UTSW |
3 |
142,516,237 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCAAATAGCTGAAAGCAACCATC -3'
(R):5'- TTTAACCGTTTCAATTGCTGGGTTATCG -3'
Sequencing Primer
(F):5'- cacagagggcagaacgg -3'
(R):5'- AGGATCGGAAACTCCATGGTA -3'
|
| Posted On |
2014-07-31 |
Incidental Mutation