Mutagenetix > Incidental Mutation

Incidental Mutation 'R4160:Pkn2'

315691

Institutional Source

Beutler Lab

Gene Symbol

Pkn2

Ensembl Gene

ENSMUSG00000004591

Gene Name

protein kinase N2

Synonyms

Stk7, PRK2, Prkcl2, 6030436C20Rik

MMRRC Submission

041003-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4160 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142496663-142587765 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 142509325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 740 (P740S)

Ref Sequence

ENSEMBL: ENSMUSP00000134559 (fasta)

Gene Model

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

AlphaFold

Q8BWW9

Predicted Effect

probably benign
Transcript: ENSMUST00000043812
AA Change: P756S

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000039566
Gene: ENSMUSG00000004591
AA Change: P756S

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: ENSMUST00000173830
AA Change: P708S

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133691
Gene: ENSMUSG00000004591
AA Change: P708S

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: P740S

PolyPhen 2 Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134559
Gene: ENSMUSG00000004591
AA Change: P740S

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: ENSMUST00000200315

Meta Mutation Damage Score

0.2027

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

89% (34/38)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf4	G	T	17: 42,978,568 (GRCm39)	H258Q	probably benign	Het
Ankrd1	T	A	19: 36,095,273 (GRCm39)	K138N	probably damaging	Het
Arhgef19	T	C	4: 140,973,660 (GRCm39)	I49T	possibly damaging	Het
Bltp3a	A	G	17: 28,103,061 (GRCm39)	Y365C	probably damaging	Het
Cacnb3	G	T	15: 98,538,601 (GRCm39)	G148C	probably damaging	Het
Cep350	G	A	1: 155,808,621 (GRCm39)	R652W	probably damaging	Het
Cyp19a1	G	A	9: 54,093,980 (GRCm39)	T94I	probably damaging	Het
D130043K22Rik	A	C	13: 25,046,679 (GRCm39)	E360D	probably benign	Het
Dse	A	G	10: 34,029,330 (GRCm39)	F587L	probably damaging	Het
Efcab14	A	C	4: 115,597,594 (GRCm39)	D63A	probably damaging	Het
Ibtk	T	C	9: 85,585,143 (GRCm39)	E1167G	probably benign	Het
Ikzf4	A	T	10: 128,479,605 (GRCm39)		probably benign	Het
Magi3	T	C	3: 103,958,277 (GRCm39)	K603E	probably damaging	Het
Myh13	T	C	11: 67,255,636 (GRCm39)		probably benign	Het
Nox4	A	T	7: 87,046,032 (GRCm39)	H557L	possibly damaging	Het
Oasl1	A	G	5: 115,075,073 (GRCm39)	K378E	possibly damaging	Het
Pdia3	A	T	2: 121,244,596 (GRCm39)	D26V	probably damaging	Het
Pds5a	T	C	5: 65,821,839 (GRCm39)	T120A	possibly damaging	Het
Phf8-ps	G	A	17: 33,285,023 (GRCm39)	T593I	probably benign	Het
Pla2r1	A	T	2: 60,252,966 (GRCm39)	I1375K	probably damaging	Het
Pld2	T	C	11: 70,432,253 (GRCm39)	L124P	probably damaging	Het
Ppp6r3	T	A	19: 3,562,037 (GRCm39)	H208L	probably damaging	Het
Prr36	G	T	8: 4,262,910 (GRCm39)	Q919K	probably benign	Het
Ptpn1	T	C	2: 167,809,731 (GRCm39)	I113T	probably benign	Het
Ptprz1	T	C	6: 23,022,204 (GRCm39)	I844T	possibly damaging	Het
Rbl1	A	G	2: 157,034,039 (GRCm39)		probably benign	Het
Sdk1	A	G	5: 142,100,154 (GRCm39)	I1395V	probably benign	Het
Senp7	C	A	16: 55,973,832 (GRCm39)	P351Q	possibly damaging	Het
Slc26a7	T	C	4: 14,544,197 (GRCm39)	T369A	probably benign	Het
Tnxb	A	G	17: 34,930,491 (GRCm39)	T2059A	probably damaging	Het
Vat1l	T	A	8: 115,098,469 (GRCm39)	M413K	probably benign	Het
Vps11	C	G	9: 44,267,017 (GRCm39)	G406A	probably damaging	Het
Wnk2	C	T	13: 49,244,313 (GRCm39)	D508N	probably 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
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
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'- ACCTAAACGTAACCTCAGTTGTATC -3'
(R):5'- AGCCCCATTTGTGCTAGGAG -3'

Sequencing Primer
(F):5'- CAAGTATGAAATAATGGTAACTCAC -3'
(R):5'- CCCATTTGTGCTAGGAGTTTATATTC -3'

Posted On

2015-05-14