Mutagenetix > Incidental Mutation

Incidental Mutation 'R4008:Pkn2'

311561

Institutional Source

Beutler Lab

Gene Symbol

Pkn2

Ensembl Gene

ENSMUSG00000004591

Gene Name

protein kinase N2

Synonyms

Stk7, PRK2, Prkcl2, 6030436C20Rik

MMRRC Submission

040946-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4008 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142496663-142587765 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142516219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 568 (D568G)

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: D568G

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000039566
Gene: ENSMUSG00000004591
AA Change: D568G

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: D520G

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000133691
Gene: ENSMUSG00000004591
AA Change: D520G

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: D552G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134559
Gene: ENSMUSG00000004591
AA Change: D552G

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

0.0732

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

97% (32/33)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,399,548 (GRCm39)	L529Q	probably damaging	Het
Adsl	T	C	15: 80,850,357 (GRCm39)	S359P	probably benign	Het
Batf2	G	A	19: 6,221,378 (GRCm39)	E63K	probably damaging	Het
Chd1l	A	T	3: 97,477,718 (GRCm39)	M679K	probably benign	Het
Clvs2	G	A	10: 33,419,458 (GRCm39)	H199Y	probably damaging	Het
F830045P16Rik	A	T	2: 129,305,467 (GRCm39)	N302K	probably damaging	Het
H2-K2	G	A	17: 34,218,525 (GRCm39)		probably benign	Het
Ifit2	G	T	19: 34,551,445 (GRCm39)	M328I	probably benign	Het
Larp7	T	C	3: 127,334,519 (GRCm39)	D490G	probably benign	Het
Map9	T	C	3: 82,266,390 (GRCm39)	Y12H	probably damaging	Het
Mn1	G	T	5: 111,568,035 (GRCm39)	E668D	probably benign	Het
Mrps18c	T	C	5: 100,950,982 (GRCm39)		probably benign	Het
Npdc1	T	A	2: 25,298,992 (GRCm39)	Y237*	probably null	Het
Oprm1	A	G	10: 6,782,520 (GRCm39)	M388V	probably benign	Het
Or10ag57	A	T	2: 87,218,924 (GRCm39)	I292F	possibly damaging	Het
Or4n5	A	G	14: 50,132,464 (GRCm39)	L265P	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Pwp1	A	G	10: 85,717,898 (GRCm39)	T279A	possibly damaging	Het
Rabep2	C	A	7: 126,044,546 (GRCm39)	D547E	probably damaging	Het
Rbm34	T	C	8: 127,676,037 (GRCm39)	K426R	probably benign	Het
Rgs14	T	G	13: 55,517,726 (GRCm39)	L8V	probably damaging	Het
Ripor2	A	G	13: 24,880,521 (GRCm39)	H407R	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc39a12	T	C	2: 14,456,928 (GRCm39)	F603L	probably damaging	Het
Smg5	T	C	3: 88,256,465 (GRCm39)	S244P	probably benign	Het
St3gal3	T	C	4: 117,797,637 (GRCm39)	I252V	probably benign	Het
Tars3	T	A	7: 65,327,876 (GRCm39)	D528E	probably damaging	Het
Try10	A	G	6: 41,333,608 (GRCm39)	T118A	probably benign	Het
Tshr	C	T	12: 91,504,268 (GRCm39)	S402L	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
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'- TTGCAATGTACATGTTAGCCAC -3'
(R):5'- CGGCCAGGTACTTGTCTTAG -3'

Sequencing Primer
(F):5'- AATGTACATGTTAGCCACTATAATGG -3'
(R):5'- AAGGCTTGAGTGTATCTTCCATAGCC -3'

Posted On

2015-04-29