Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02136:Pkn2'

281315

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 #

IGL02136

Quality Score

Status

Chromosome

Chromosomal Location

142496663-142587765 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 142559351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 58 (K58I)

Ref Sequence

ENSEMBL: ENSMUSP00000134559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043812] [ENSMUST00000173830] [ENSMUST00000173913] [ENSMUST00000174422]

AlphaFold

Q8BWW9

Predicted Effect

probably damaging
Transcript: ENSMUST00000043812
AA Change: K58I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039566
Gene: ENSMUSG00000004591
AA Change: K58I

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

probably damaging
Transcript: ENSMUST00000173830
AA Change: K58I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133691
Gene: ENSMUSG00000004591
AA Change: K58I

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: K58I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134559
Gene: ENSMUSG00000004591
AA Change: K58I

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: ENSMUST00000197529

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,286,301 (GRCm39)	T2511K	probably damaging	Het
Acta2	T	A	19: 34,229,230 (GRCm39)	D53V	probably damaging	Het
Banf1	G	A	19: 5,415,098 (GRCm39)	A71V	probably benign	Het
Cacng5	A	T	11: 107,772,557 (GRCm39)	I97N	probably benign	Het
Clec14a	T	A	12: 58,315,415 (GRCm39)	E69V	probably damaging	Het
Cracr2a	T	C	6: 127,606,893 (GRCm39)		probably benign	Het
Dysf	A	G	6: 84,085,149 (GRCm39)	R845G	probably benign	Het
Dzip3	T	C	16: 48,747,945 (GRCm39)	N949S	possibly damaging	Het
Eprs1	T	G	1: 185,117,180 (GRCm39)	W408G	probably damaging	Het
Fgf14	G	A	14: 124,217,784 (GRCm39)	P240S	possibly damaging	Het
Fpgt	G	T	3: 154,798,989 (GRCm39)	A2E	probably benign	Het
Galntl5	T	A	5: 25,425,060 (GRCm39)	S392R	probably benign	Het
Gatd1	A	G	7: 140,988,873 (GRCm39)	*221Q	probably null	Het
Gcsam	T	A	16: 45,430,896 (GRCm39)	M1K	probably null	Het
Ksr2	A	G	5: 117,754,959 (GRCm39)	N351S	possibly damaging	Het
Map1a	T	C	2: 121,130,693 (GRCm39)	V503A	probably damaging	Het
Myl12a	T	A	17: 71,303,851 (GRCm39)	K9*	probably null	Het
Ncapg2	A	T	12: 116,424,203 (GRCm39)	M1129L	probably benign	Het
Or11g2	T	C	14: 50,855,708 (GRCm39)	S10P	possibly damaging	Het
Or8k41	T	C	2: 86,313,809 (GRCm39)	I92M	probably damaging	Het
Otof	T	C	5: 30,531,336 (GRCm39)	K1691E	possibly damaging	Het
Pdk4	A	T	6: 5,486,715 (GRCm39)	M353K	probably damaging	Het
Pkhd1	A	T	1: 20,345,839 (GRCm39)	W2730R	probably damaging	Het
Plk5	T	C	10: 80,199,001 (GRCm39)		probably null	Het
Prkcq	T	C	2: 11,265,479 (GRCm39)	F399L	probably benign	Het
Ptprz1	G	A	6: 22,972,821 (GRCm39)	V244M	probably damaging	Het
Rpusd2	T	C	2: 118,868,659 (GRCm39)	F361L	probably damaging	Het
Rttn	T	A	18: 89,064,252 (GRCm39)	L1168I	possibly damaging	Het
S100a9	T	C	3: 90,600,075 (GRCm39)	H107R	probably benign	Het
Serpinb3a	T	A	1: 106,974,015 (GRCm39)	M299L	probably benign	Het
Slfn8	G	A	11: 82,894,291 (GRCm39)	Q783*	probably null	Het
Smc3	T	C	19: 53,624,147 (GRCm39)	I721T	probably benign	Het
Top2b	C	A	14: 16,407,103 (GRCm38)		probably benign	Het
Uvssa	T	A	5: 33,549,192 (GRCm39)	W351R	probably damaging	Het
Vmn2r107	G	T	17: 20,595,168 (GRCm39)	V574L	probably benign	Het
Wdr3	G	A	3: 100,046,041 (GRCm39)	R931*	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
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
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

2015-04-16