Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02310:Pkn2'

287778

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 #

IGL02310

Quality Score

Status

Chromosome

Chromosomal Location

142496663-142587765 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142517341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 482 (I482T)

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: I482T

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

SMART Domains

Protein: ENSMUSP00000039566
Gene: ENSMUSG00000004591
AA Change: I482T

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: I434T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133691
Gene: ENSMUSG00000004591
AA Change: I434T

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: I466T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134559
Gene: ENSMUSG00000004591
AA Change: I466T

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

unknown
Transcript: ENSMUST00000174680
AA Change: I201T

SMART Domains

Protein: ENSMUSP00000134041
Gene: ENSMUSG00000004591
AA Change: I201T

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	T	A	10: 88,859,740 (GRCm39)	K382*	probably null	Het
Apoc2l	A	G	7: 19,405,688 (GRCm39)	*98Q	probably null	Het
Bcl9l	A	G	9: 44,420,602 (GRCm39)	Y1299C	probably damaging	Het
Best1	T	A	19: 9,966,516 (GRCm39)	H357L	probably benign	Het
Cdc26	T	C	4: 62,313,266 (GRCm39)		probably benign	Het
Esyt2	C	T	12: 116,329,541 (GRCm39)	L700F	probably benign	Het
Fkbp15	T	C	4: 62,258,553 (GRCm39)	Y138C	probably damaging	Het
Gbp6	T	C	5: 105,438,841 (GRCm39)	N16D	probably benign	Het
Hecw2	T	C	1: 53,963,075 (GRCm39)	D812G	probably null	Het
Hic2	G	A	16: 17,075,621 (GRCm39)	R150Q	probably damaging	Het
Kif21b	T	A	1: 136,087,495 (GRCm39)	L937Q	probably damaging	Het
Klhl36	T	A	8: 120,596,356 (GRCm39)		probably null	Het
Matcap2	A	G	9: 22,335,724 (GRCm39)	Y114C	probably benign	Het
Mug2	C	T	6: 122,036,082 (GRCm39)		probably benign	Het
Or9s14	T	C	1: 92,535,787 (GRCm39)	V76A	possibly damaging	Het
Pdcl2	A	T	5: 76,465,728 (GRCm39)	I116N	probably damaging	Het
Pip4p1	T	C	14: 51,166,667 (GRCm39)	T187A	possibly damaging	Het
Prss53	T	G	7: 127,485,786 (GRCm39)	D518A	probably benign	Het
Psme4	A	G	11: 30,787,484 (GRCm39)	D1093G	probably benign	Het
Tmcc2	A	T	1: 132,286,645 (GRCm39)	I602N	probably damaging	Het
Ttn	C	T	2: 76,619,035 (GRCm39)	V16115I	possibly damaging	Het
Zbtb21	G	T	16: 97,752,990 (GRCm39)	T459K	possibly damaging	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
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