Incidental Mutation 'R1833:Pkn2'
ID |
204930 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pkn2
|
Ensembl Gene |
ENSMUSG00000004591 |
Gene Name |
protein kinase N2 |
Synonyms |
Stk7, PRK2, Prkcl2, 6030436C20Rik |
MMRRC Submission |
039860-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1833 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
142496663-142587765 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 142527408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 347
(R347Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133691
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043812]
[ENSMUST00000173830]
[ENSMUST00000173913]
[ENSMUST00000174422]
|
AlphaFold |
Q8BWW9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043812
AA Change: R347Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039566 Gene: ENSMUSG00000004591 AA Change: R347Q
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 damaging
Transcript: ENSMUST00000173830
AA Change: R347Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133691 Gene: ENSMUSG00000004591 AA Change: R347Q
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 damaging
Transcript: ENSMUST00000174422
AA Change: R347Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134559 Gene: ENSMUSG00000004591 AA Change: R347Q
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: ENSMUST00000174099
|
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 |
0.1321 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.9%
|
Validation Efficiency |
99% (83/84) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003H04Rik |
T |
A |
3: 124,350,509 (GRCm39) |
D143V |
unknown |
Het |
4930438A08Rik |
C |
T |
11: 58,179,214 (GRCm39) |
Q183* |
probably null |
Het |
9230009I02Rik |
A |
G |
11: 50,982,293 (GRCm39) |
|
noncoding transcript |
Het |
Abhd12 |
T |
A |
2: 150,690,338 (GRCm39) |
D119V |
probably damaging |
Het |
Adam1b |
A |
G |
5: 121,641,000 (GRCm39) |
I15T |
possibly damaging |
Het |
Agtpbp1 |
A |
T |
13: 59,613,797 (GRCm39) |
|
probably null |
Het |
Arfgef1 |
G |
C |
1: 10,275,115 (GRCm39) |
I312M |
probably benign |
Het |
Arid4a |
C |
T |
12: 71,122,240 (GRCm39) |
L874F |
possibly damaging |
Het |
Bcas3 |
G |
A |
11: 85,474,775 (GRCm39) |
V317I |
probably benign |
Het |
Ccr1 |
T |
A |
9: 123,764,126 (GRCm39) |
I135F |
probably damaging |
Het |
Ces2h |
A |
G |
8: 105,747,005 (GRCm39) |
E547G |
possibly damaging |
Het |
Ces3b |
T |
A |
8: 105,812,271 (GRCm39) |
D173E |
probably damaging |
Het |
Chd3 |
A |
G |
11: 69,244,949 (GRCm39) |
L1197S |
probably damaging |
Het |
Cngb1 |
A |
G |
8: 95,968,983 (GRCm39) |
L1175P |
probably damaging |
Het |
Cyp4f17 |
T |
C |
17: 32,743,184 (GRCm39) |
F286L |
probably benign |
Het |
Dclre1a |
C |
T |
19: 56,529,932 (GRCm39) |
|
probably null |
Het |
Dennd6a |
T |
A |
14: 26,328,109 (GRCm39) |
L44H |
probably damaging |
Het |
Dhx16 |
A |
G |
17: 36,196,511 (GRCm39) |
T560A |
probably benign |
Het |
Dusp12 |
T |
C |
1: 170,702,022 (GRCm39) |
M326V |
probably benign |
Het |
Eif3k |
T |
C |
7: 28,670,852 (GRCm39) |
I180V |
probably benign |
Het |
Erc1 |
A |
G |
6: 119,720,390 (GRCm39) |
I437T |
possibly damaging |
Het |
Farp2 |
T |
A |
1: 93,504,086 (GRCm39) |
|
probably benign |
Het |
Foxa3 |
A |
G |
7: 18,748,499 (GRCm39) |
L209P |
probably damaging |
Het |
Garin2 |
G |
A |
12: 78,762,280 (GRCm39) |
|
probably benign |
Het |
Gen1 |
A |
T |
12: 11,298,352 (GRCm39) |
|
probably benign |
Het |
Gm10305 |
A |
G |
4: 99,161,363 (GRCm39) |
T91A |
unknown |
Het |
Gm14412 |
T |
C |
2: 177,007,583 (GRCm39) |
D104G |
probably benign |
Het |
Gm6900 |
T |
C |
7: 10,390,515 (GRCm39) |
|
noncoding transcript |
Het |
Gpx1 |
A |
T |
9: 108,216,555 (GRCm39) |
Y15F |
possibly damaging |
Het |
H2-M10.3 |
T |
C |
17: 36,678,387 (GRCm39) |
Y146C |
probably damaging |
Het |
H2-Q7 |
C |
A |
17: 35,658,675 (GRCm39) |
S104R |
probably benign |
Het |
Hephl1 |
T |
C |
9: 14,988,224 (GRCm39) |
Y628C |
probably damaging |
Het |
Hspa5 |
T |
A |
2: 34,666,065 (GRCm39) |
Y636* |
probably null |
Het |
Htt |
A |
G |
5: 35,063,092 (GRCm39) |
|
probably benign |
Het |
Idh1 |
T |
C |
1: 65,200,273 (GRCm39) |
I364V |
probably benign |
Het |
Itgae |
G |
T |
11: 73,007,988 (GRCm39) |
A423S |
possibly damaging |
Het |
Kng2 |
T |
C |
16: 22,830,802 (GRCm39) |
N169S |
possibly damaging |
Het |
Larp4b |
C |
T |
13: 9,201,235 (GRCm39) |
T369I |
possibly damaging |
Het |
Lcor |
T |
C |
19: 41,573,387 (GRCm39) |
I714T |
probably benign |
Het |
Lhfpl7 |
A |
G |
5: 113,382,435 (GRCm39) |
|
probably benign |
Het |
Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
Magi2 |
G |
T |
5: 19,432,455 (GRCm39) |
G57C |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,720,761 (GRCm39) |
H2291Q |
probably damaging |
Het |
Mgam |
T |
C |
6: 40,631,652 (GRCm39) |
|
probably null |
Het |
Micall2 |
A |
G |
5: 139,702,508 (GRCm39) |
V245A |
probably benign |
Het |
Mipep |
T |
G |
14: 61,109,512 (GRCm39) |
Y630D |
probably damaging |
Het |
Msx2 |
A |
T |
13: 53,622,221 (GRCm39) |
M263K |
probably damaging |
Het |
Nectin2 |
G |
T |
7: 19,451,633 (GRCm39) |
P467H |
probably damaging |
Het |
Nek10 |
A |
T |
14: 14,842,789 (GRCm38) |
M165L |
probably benign |
Het |
Nlrp4b |
A |
T |
7: 10,459,863 (GRCm39) |
M455L |
probably benign |
Het |
Oaz3 |
TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG |
TGGAGGCAGGAGCACGGGAGGCAG |
3: 94,343,349 (GRCm39) |
|
probably benign |
Het |
Or10ad1b |
T |
A |
15: 98,124,846 (GRCm39) |
I227F |
probably damaging |
Het |
Or4c10 |
T |
A |
2: 89,760,645 (GRCm39) |
L164* |
probably null |
Het |
Pcx |
T |
A |
19: 4,669,132 (GRCm39) |
V710E |
probably damaging |
Het |
Pramel51 |
T |
C |
12: 88,145,218 (GRCm39) |
E44G |
possibly damaging |
Het |
Qsox1 |
C |
T |
1: 155,666,791 (GRCm39) |
G233S |
probably benign |
Het |
Rbl1 |
T |
A |
2: 157,037,475 (GRCm39) |
N224I |
probably damaging |
Het |
Rspry1 |
A |
G |
8: 95,362,116 (GRCm39) |
T132A |
probably damaging |
Het |
Sclt1 |
A |
G |
3: 41,681,546 (GRCm39) |
V91A |
probably damaging |
Het |
Sema4f |
A |
T |
6: 82,895,540 (GRCm39) |
L331H |
probably benign |
Het |
Sf3b3 |
T |
A |
8: 111,544,198 (GRCm39) |
Q814L |
probably benign |
Het |
Slc19a2 |
T |
G |
1: 164,089,753 (GRCm39) |
Y190D |
probably damaging |
Het |
Smarcc1 |
T |
A |
9: 109,982,879 (GRCm39) |
H204Q |
possibly damaging |
Het |
Sox6 |
T |
C |
7: 115,376,328 (GRCm39) |
K135E |
probably damaging |
Het |
Tecpr1 |
T |
C |
5: 144,145,426 (GRCm39) |
Q607R |
probably damaging |
Het |
Tgfb1i1 |
A |
G |
7: 127,848,670 (GRCm39) |
|
probably benign |
Het |
Tirap |
T |
G |
9: 35,099,999 (GRCm39) |
R228S |
probably benign |
Het |
Trp53bp2 |
T |
A |
1: 182,256,581 (GRCm39) |
H50Q |
probably damaging |
Het |
Try4 |
A |
G |
6: 41,280,365 (GRCm39) |
H63R |
probably damaging |
Het |
Vmn2r25 |
G |
A |
6: 123,816,643 (GRCm39) |
P313S |
probably benign |
Het |
Vps26a |
A |
C |
10: 62,294,825 (GRCm39) |
L250V |
probably benign |
Het |
Vwf |
A |
G |
6: 125,619,000 (GRCm39) |
H1226R |
probably benign |
Het |
Wdtc1 |
TCC |
TC |
4: 133,036,053 (GRCm39) |
|
probably benign |
Het |
Zc3hav1l |
A |
T |
6: 38,274,881 (GRCm39) |
|
probably benign |
Het |
Zfp119b |
T |
G |
17: 56,246,271 (GRCm39) |
H305P |
probably damaging |
Het |
Zfp326 |
C |
T |
5: 106,039,035 (GRCm39) |
Q134* |
probably null |
Het |
Zfp975 |
C |
T |
7: 42,311,263 (GRCm39) |
R450Q |
probably benign |
Het |
Zfyve26 |
A |
T |
12: 79,333,032 (GRCm39) |
M313K |
probably benign |
Het |
Zscan5b |
T |
C |
7: 6,241,965 (GRCm39) |
S395P |
possibly 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 |
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 |
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'- TTCCCATGAGAAGGCCCTTC -3'
(R):5'- TAGCTTAAGAAGGGTCATACTTTCC -3'
Sequencing Primer
(F):5'- CCTTCGAATGTGTGGCAAGAC -3'
(R):5'- GAAGGGTCATACTTTCCTCACAG -3'
|
Posted On |
2014-06-23 |