Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01556:Pkn2'

90727

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pkn2

Ensembl Gene

ENSMUSG00000004591

Gene Name

protein kinase N2

Synonyms

Stk7, PRK2, Prkcl2, 6030436C20Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01556

Quality Score

Status

Chromosome

Chromosomal Location

142496663-142587765 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 142535078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 212 (I212K)

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: I212K

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039566
Gene: ENSMUSG00000004591
AA Change: I212K

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: I212K

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133691
Gene: ENSMUSG00000004591
AA Change: I212K

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: I212K

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134559
Gene: ENSMUSG00000004591
AA Change: I212K

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	T	C	8: 114,571,741 (GRCm39)	I81V	probably benign	Het
Aoc1l1	A	C	6: 48,952,618 (GRCm39)	D181A	possibly damaging	Het
Armc3	T	A	2: 19,273,957 (GRCm39)	D330E	probably damaging	Het
Atp6v0b	A	G	4: 117,743,062 (GRCm39)	F49S	probably damaging	Het
Atp8b3	A	C	10: 80,366,802 (GRCm39)	Y265*	probably null	Het
Cby2	A	G	14: 75,821,551 (GRCm39)	F16S	probably damaging	Het
Cdh11	A	G	8: 103,406,276 (GRCm39)	Y66H	probably damaging	Het
Cntn5	T	A	9: 9,673,913 (GRCm39)	M730L	probably benign	Het
Cntrl	A	G	2: 35,063,071 (GRCm39)	T1556A	probably benign	Het
Dixdc1	A	G	9: 50,617,434 (GRCm39)	S128P	probably damaging	Het
Egfr	T	C	11: 16,855,382 (GRCm39)	L889S	probably damaging	Het
F830045P16Rik	A	G	2: 129,305,640 (GRCm39)	Y245H	probably benign	Het
Fam124a	G	A	14: 62,825,181 (GRCm39)	C225Y	probably damaging	Het
Frem2	T	C	3: 53,442,702 (GRCm39)	T2612A	probably benign	Het
Gkap1	A	T	13: 58,411,106 (GRCm39)	I89N	probably benign	Het
Gm8247	A	T	14: 44,823,811 (GRCm39)	K75*	probably null	Het
Gpi-ps	A	G	8: 5,689,833 (GRCm39)		noncoding transcript	Het
Hdac11	T	A	6: 91,150,162 (GRCm39)	H320Q	probably benign	Het
Iyd	A	G	10: 3,497,091 (GRCm39)	I149V	probably benign	Het
Krtap4-6	T	A	11: 99,556,676 (GRCm39)	Q17L	unknown	Het
Lrrc24	T	A	15: 76,606,775 (GRCm39)	D207V	probably damaging	Het
Mfsd12	G	A	10: 81,198,858 (GRCm39)	C425Y	probably damaging	Het
Muc5b	A	G	7: 141,416,977 (GRCm39)	T3308A	probably benign	Het
Myo18b	A	G	5: 112,905,315 (GRCm39)		probably benign	Het
Ndufa6	C	T	15: 82,238,282 (GRCm39)	V50M	possibly damaging	Het
Nin	A	G	12: 70,089,962 (GRCm39)	V1151A	probably benign	Het
Nrf1	A	G	6: 30,126,366 (GRCm39)		probably benign	Het
Pcdhb20	T	C	18: 37,637,852 (GRCm39)	I126T	possibly damaging	Het
Pdgfra	G	T	5: 75,338,352 (GRCm39)	L535F	probably damaging	Het
Slc5a9	T	A	4: 111,755,833 (GRCm39)	T22S	probably benign	Het
Slitrk1	A	G	14: 109,150,450 (GRCm39)	L87S	probably damaging	Het
Syne2	C	A	12: 76,134,589 (GRCm39)	R29S	probably damaging	Het
Zc3h12b	C	A	X: 94,970,721 (GRCm39)	F551L	probably damaging	Het
Zfp664	C	A	5: 124,963,252 (GRCm39)	C215*	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
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
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

Posted On

2013-12-09