Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01574:Pkn2'

91190

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 #

IGL01574

Quality Score

Status

Chromosome

Chromosomal Location

142496663-142587765 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142544992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 161 (M161V)

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: M161V

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039566
Gene: ENSMUSG00000004591
AA Change: M161V

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 benign
Transcript: ENSMUST00000173830
AA Change: M161V

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133691
Gene: ENSMUSG00000004591
AA Change: M161V

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 benign
Transcript: ENSMUST00000174422
AA Change: M161V

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000134559
Gene: ENSMUSG00000004591
AA Change: M161V

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

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd26	T	G	6: 118,516,659 (GRCm39)	T502P	probably damaging	Het
Apoa4	C	A	9: 46,154,283 (GRCm39)	Q295K	probably benign	Het
Asxl3	T	G	18: 22,656,621 (GRCm39)	C1544G	probably benign	Het
Ccl7	G	A	11: 81,937,451 (GRCm39)	V62I	probably damaging	Het
Ceacam20	C	A	7: 19,708,247 (GRCm39)	T284K	possibly damaging	Het
Ces4a	A	T	8: 105,871,859 (GRCm39)		probably benign	Het
Col4a2	G	T	8: 11,489,306 (GRCm39)	G1147V	probably damaging	Het
Gtf3c4	T	C	2: 28,724,448 (GRCm39)	D428G	possibly damaging	Het
Itgb2	G	A	10: 77,393,798 (GRCm39)	V413I	possibly damaging	Het
Itgb7	T	G	15: 102,135,975 (GRCm39)	E20A	possibly damaging	Het
Kank2	C	A	9: 21,705,900 (GRCm39)	G373W	probably damaging	Het
Kif1a	T	A	1: 93,010,062 (GRCm39)	I28F	probably damaging	Het
Klhdc7b	T	C	15: 89,271,572 (GRCm39)	V818A	probably benign	Het
Klhl20	T	C	1: 160,921,296 (GRCm39)	Y53C	probably damaging	Het
Matcap2	T	C	9: 22,355,426 (GRCm39)	V487A	possibly damaging	Het
Mroh1	A	G	15: 76,316,488 (GRCm39)	N772S	probably benign	Het
Mtmr4	C	T	11: 87,491,473 (GRCm39)	T146I	probably benign	Het
Nup210	C	T	6: 91,017,546 (GRCm39)	V1152I	probably benign	Het
Pclo	T	A	5: 14,763,462 (GRCm39)	D3978E	unknown	Het
Pkd1l3	T	C	8: 110,350,403 (GRCm39)	L416P	probably benign	Het
Plxnb2	T	C	15: 89,046,886 (GRCm39)		probably null	Het
Polr2e	C	A	10: 79,875,467 (GRCm39)	D3Y	probably damaging	Het
Prss27	A	T	17: 24,257,345 (GRCm39)		probably benign	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Tmem30c	T	A	16: 57,097,105 (GRCm39)	I152F	possibly damaging	Het
Usp2	G	A	9: 44,005,100 (GRCm39)	R378H	probably damaging	Het
Vmn2r106	A	T	17: 20,488,572 (GRCm39)	I609N	possibly damaging	Het
Vmn2r51	T	A	7: 9,836,381 (GRCm39)	E133D	probably damaging	Het
Zkscan3	A	T	13: 21,578,261 (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
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