Incidental Mutation 'R1797:Pkn2'
| ID |
202350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkn2
|
| Ensembl Gene |
ENSMUSG00000004591 |
| Gene Name |
protein kinase N2 |
| Synonyms |
Stk7, PRK2, Prkcl2, 6030436C20Rik |
| MMRRC Submission |
039827-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1797 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
142496663-142587765 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142515289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 682
(F682L)
|
| 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: F682L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039566
Gene: ENSMUSG00000004591
AA Change: F682L
| 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: F634L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133691
Gene: ENSMUSG00000004591
AA Change: F634L
| 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 damaging
Transcript: ENSMUST00000174422
AA Change: F666L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134559
Gene: ENSMUSG00000004591
AA Change: F666L
| 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: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.6%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,089,285 (GRCm39) |
K200E |
possibly damaging |
Het |
| Abcc2 |
A |
G |
19: 43,803,225 (GRCm39) |
E687G |
possibly damaging |
Het |
| Abcc2 |
A |
T |
19: 43,822,426 (GRCm39) |
Q1421H |
probably damaging |
Het |
| Abcg3 |
C |
T |
5: 105,087,030 (GRCm39) |
S534N |
possibly damaging |
Het |
| Acp1 |
A |
G |
12: 30,946,113 (GRCm39) |
|
probably null |
Het |
| Adam12 |
C |
A |
7: 133,569,590 (GRCm39) |
R295L |
probably benign |
Het |
| Albfm1 |
A |
T |
5: 90,727,460 (GRCm39) |
E359D |
probably damaging |
Het |
| Alg1 |
C |
A |
16: 5,057,007 (GRCm39) |
H213Q |
probably benign |
Het |
| Ap4b1 |
T |
A |
3: 103,726,149 (GRCm39) |
W410R |
possibly damaging |
Het |
| As3mt |
A |
G |
19: 46,713,373 (GRCm39) |
T307A |
possibly damaging |
Het |
| Cdc14a |
T |
C |
3: 116,115,843 (GRCm39) |
I289V |
probably damaging |
Het |
| Cdk17 |
A |
G |
10: 93,044,114 (GRCm39) |
I18V |
possibly damaging |
Het |
| Cep131 |
C |
T |
11: 119,964,562 (GRCm39) |
|
probably null |
Het |
| Clca3a2 |
A |
G |
3: 144,503,398 (GRCm39) |
Y851H |
probably benign |
Het |
| Cnih2 |
T |
C |
19: 5,144,314 (GRCm39) |
K66E |
probably benign |
Het |
| Cpsf3 |
T |
A |
12: 21,356,851 (GRCm39) |
N491K |
probably benign |
Het |
| Cux1 |
C |
T |
5: 136,304,169 (GRCm39) |
E1253K |
probably benign |
Het |
| Dcc |
A |
C |
18: 71,500,232 (GRCm39) |
L1005R |
probably damaging |
Het |
| Ddx19b |
A |
T |
8: 111,739,439 (GRCm39) |
M200K |
probably damaging |
Het |
| Ech1 |
A |
G |
7: 28,531,288 (GRCm39) |
Y292C |
probably damaging |
Het |
| Edc4 |
G |
T |
8: 106,617,717 (GRCm39) |
A1121S |
probably benign |
Het |
| Eml6 |
T |
A |
11: 29,832,041 (GRCm39) |
I210F |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,324,290 (GRCm39) |
T1226A |
probably benign |
Het |
| Flg2 |
C |
T |
3: 93,108,283 (GRCm39) |
R104C |
probably damaging |
Het |
| Frzb |
T |
C |
2: 80,276,872 (GRCm39) |
I105V |
possibly damaging |
Het |
| Gli3 |
A |
G |
13: 15,888,097 (GRCm39) |
D504G |
probably damaging |
Het |
| Gm42669 |
A |
T |
5: 107,655,683 (GRCm39) |
K1161* |
probably null |
Het |
| Gm6665 |
T |
C |
18: 31,953,186 (GRCm39) |
E63G |
possibly damaging |
Het |
| Gm9923 |
T |
C |
10: 72,145,593 (GRCm39) |
V148A |
probably benign |
Het |
| Hoxc5 |
T |
C |
15: 102,922,866 (GRCm39) |
I118T |
probably benign |
Het |
| Hsp90b1 |
A |
G |
10: 86,537,609 (GRCm39) |
V232A |
possibly damaging |
Het |
| Impdh1 |
T |
A |
6: 29,207,168 (GRCm39) |
I59F |
probably damaging |
Het |
| Iqch |
G |
A |
9: 63,495,659 (GRCm39) |
P111S |
possibly damaging |
Het |
| Itih1 |
G |
T |
14: 30,651,856 (GRCm39) |
Q829K |
probably damaging |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Kmt5b |
G |
T |
19: 3,864,833 (GRCm39) |
E632D |
probably benign |
Het |
| L2hgdh |
C |
T |
12: 69,746,340 (GRCm39) |
M373I |
probably benign |
Het |
| Map3k4 |
C |
T |
17: 12,482,906 (GRCm39) |
E604K |
probably benign |
Het |
| Mok |
T |
A |
12: 110,774,479 (GRCm39) |
Y420F |
probably benign |
Het |
| Nedd1 |
G |
A |
10: 92,534,601 (GRCm39) |
T303I |
possibly damaging |
Het |
| Nipal4 |
T |
A |
11: 46,042,160 (GRCm39) |
M174L |
probably benign |
Het |
| Or6c213 |
A |
C |
10: 129,574,578 (GRCm39) |
I69M |
probably benign |
Het |
| Pag1 |
T |
A |
3: 9,758,946 (GRCm39) |
T391S |
probably benign |
Het |
| Palm3 |
A |
G |
8: 84,755,432 (GRCm39) |
R315G |
probably benign |
Het |
| Patj |
C |
T |
4: 98,575,675 (GRCm39) |
R1177W |
probably damaging |
Het |
| Pbld2 |
G |
A |
10: 62,910,903 (GRCm39) |
|
probably null |
Het |
| Phldb1 |
A |
T |
9: 44,627,842 (GRCm39) |
M81K |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,747,392 (GRCm39) |
|
probably null |
Het |
| Plekha8 |
T |
A |
6: 54,617,959 (GRCm39) |
V518E |
probably damaging |
Het |
| Ppp1r3a |
T |
A |
6: 14,717,981 (GRCm39) |
M978L |
probably benign |
Het |
| Ppp4r4 |
T |
A |
12: 103,564,410 (GRCm39) |
C592S |
possibly damaging |
Het |
| Prdx6b |
T |
A |
2: 80,123,546 (GRCm39) |
D118E |
possibly damaging |
Het |
| Ptprg |
T |
C |
14: 12,199,743 (GRCm38) |
V52A |
probably damaging |
Het |
| Rab27b |
A |
G |
18: 70,122,617 (GRCm39) |
M114T |
probably damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,230,723 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
G |
A |
8: 13,632,372 (GRCm39) |
P506L |
probably benign |
Het |
| Rps6kb1 |
G |
A |
11: 86,393,634 (GRCm39) |
R499* |
probably null |
Het |
| S1pr4 |
A |
G |
10: 81,335,024 (GRCm39) |
M150T |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,430,882 (GRCm39) |
D439G |
probably damaging |
Het |
| Serpina1e |
T |
C |
12: 103,917,150 (GRCm39) |
K173R |
probably benign |
Het |
| Serpina3m |
T |
A |
12: 104,355,774 (GRCm39) |
I147N |
probably damaging |
Het |
| Sh3rf3 |
G |
T |
10: 58,922,489 (GRCm39) |
G522* |
probably null |
Het |
| Smad1 |
A |
T |
8: 80,070,473 (GRCm39) |
V355E |
probably damaging |
Het |
| Srsf11 |
A |
G |
3: 157,725,065 (GRCm39) |
V211A |
possibly damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Stt3a |
C |
T |
9: 36,654,711 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
C |
12: 76,010,557 (GRCm39) |
V2488A |
probably benign |
Het |
| Tbc1d23 |
T |
C |
16: 56,993,463 (GRCm39) |
T568A |
possibly damaging |
Het |
| Tnn |
A |
C |
1: 159,968,258 (GRCm39) |
V378G |
probably damaging |
Het |
| Trim50 |
T |
C |
5: 135,382,355 (GRCm39) |
V69A |
possibly damaging |
Het |
| Ttll10 |
A |
T |
4: 156,132,024 (GRCm39) |
D19E |
probably damaging |
Het |
| Ushbp1 |
G |
A |
8: 71,841,567 (GRCm39) |
R421C |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,042,128 (GRCm39) |
T196A |
probably benign |
Het |
| Wdr64 |
G |
A |
1: 175,639,585 (GRCm39) |
S1028N |
probably damaging |
Het |
| Wwtr1 |
T |
C |
3: 57,369,996 (GRCm39) |
Y373C |
probably damaging |
Het |
| Zeb1 |
A |
T |
18: 5,766,298 (GRCm39) |
K216* |
probably null |
Het |
| Zfp39 |
T |
C |
11: 58,791,486 (GRCm39) |
D67G |
probably damaging |
Het |
| Zfp40 |
A |
G |
17: 23,394,514 (GRCm39) |
I691T |
possibly damaging |
Het |
| Zfp532 |
T |
C |
18: 65,758,215 (GRCm39) |
V716A |
probably benign |
Het |
| Zfp616 |
T |
A |
11: 73,976,105 (GRCm39) |
C791* |
probably null |
Het |
| Zfp932 |
G |
A |
5: 110,144,489 (GRCm39) |
|
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 |
|
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'- CCAAACCTGGCTTAAGGGAAAG -3'
(R):5'- AGGTTTCAGTTCAGTCTACAGG -3'
Sequencing Primer
(F):5'- CCTGGCTTAAGGGAAAGAGGTGAC -3'
(R):5'- GTCTACAGGACTTCAGGTGC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation