Mutagenetix > Incidental Mutations

Incidental Mutation 'R6255:Pkn2'

506043

Institutional Source

Beutler Lab

Gene Symbol

Pkn2

Ensembl Gene

ENSMUSG00000004591

Gene Name

protein kinase N2

Synonyms

PRK2, Stk7, Prkcl2, 6030436C20Rik

MMRRC Submission

044372-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142790902-142882004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142811599 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 476 (T476A)

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: T476A

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

SMART Domains

Protein: ENSMUSP00000039566
Gene: ENSMUSG00000004591
AA Change: T476A

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

possibly damaging
Transcript: ENSMUST00000173830
AA Change: T428A

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133691
Gene: ENSMUSG00000004591
AA Change: T428A

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

possibly damaging
Transcript: ENSMUST00000174422
AA Change: T460A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134559
Gene: ENSMUSG00000004591
AA Change: T460A

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: T195A

SMART Domains

Protein: ENSMUSP00000134041
Gene: ENSMUSG00000004591
AA Change: T195A

Domain	Start	End	E-Value	Type
Hr1	1	67	1.33e-18	SMART
C2	72	182	3.51e-2	SMART

Meta Mutation Damage Score

0.1553

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,466,123	V7E	possibly damaging	Het
Aars2	G	A	17: 45,514,609	G333S	probably damaging	Het
Aen	T	A	7: 78,905,844	I85N	probably damaging	Het
Ahnak	C	A	19: 9,008,025	H2224Q	possibly damaging	Het
Aldh18a1	C	T	19: 40,580,043	R41H	possibly damaging	Het
Bpifb9b	T	A	2: 154,309,364	W2R	probably damaging	Het
Caprin2	A	G	6: 148,877,892	I139T	probably benign	Het
Cdhr3	T	A	12: 33,053,475	N381I	probably damaging	Het
Cecr2	A	G	6: 120,758,050	Y721C	probably damaging	Het
Cherp	G	T	8: 72,470,881	A125D	probably damaging	Het
Cped1	G	A	6: 22,138,715		probably null	Het
Ctdp1	T	A	18: 80,459,297		probably null	Het
Cyp2c55	T	C	19: 39,018,667	I169T	probably benign	Het
Cyp4a31	T	C	4: 115,574,920	L418P	possibly damaging	Het
Efcab7	T	C	4: 99,829,390		probably benign	Het
Efcab8	T	C	2: 153,810,268	W466R	possibly damaging	Het
Ehd3	C	A	17: 73,805,413	N57K	probably benign	Het
Ern2	C	A	7: 122,173,272	K654N	probably damaging	Het
Fbxo18	A	T	2: 11,748,446	F879L	probably benign	Het
Gde1	T	C	7: 118,691,781	D92G	probably null	Het
Gm4788	A	T	1: 139,753,011	C256*	probably null	Het
Heatr5b	A	G	17: 78,803,434	V995A	probably damaging	Het
Ifrd2	A	G	9: 107,592,091	E346G	probably damaging	Het
Ism1	AACGGACCCGTTCTTGTGGCTATGCA	AA	2: 139,746,042		probably benign	Het
Itgb4	T	C	11: 115,998,137	V1102A	possibly damaging	Het
Itgb6	A	T	2: 60,605,276	I710N	probably damaging	Het
Kif1a	T	C	1: 93,019,983	K1578E	probably damaging	Het
Kif9	T	C	9: 110,517,834		probably null	Het
Kitl	T	C	10: 100,089,233	*57Q	probably null	Het
Lrat	C	A	3: 82,903,505	V70F	probably damaging	Het
Lrrc9	T	A	12: 72,487,023	M1022K	probably benign	Het
Muc16	T	C	9: 18,655,599	T1875A	unknown	Het
Mup4	T	A	4: 59,957,890	N171I	probably damaging	Het
Npas4	G	A	19: 4,986,375	T587I	probably damaging	Het
Oas3	A	G	5: 120,771,230	V217A	probably benign	Het
Olfr786	A	G	10: 129,437,688	N292S	possibly damaging	Het
Osbp	C	A	19: 11,977,953	A323D	possibly damaging	Het
Panx2	G	A	15: 89,067,618	R96H	probably damaging	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Piezo2	T	C	18: 63,121,270	R385G	possibly damaging	Het
Plekha4	T	C	7: 45,553,802		probably benign	Het
Ppfibp2	T	C	7: 107,681,762	S94P	probably damaging	Het
Pramel7	T	A	2: 87,489,663	I429L	probably benign	Het
Rif1	A	G	2: 52,085,053	K325E	probably damaging	Het
Ror2	T	C	13: 53,110,542	Y826C	probably damaging	Het
Rsph10b	G	A	5: 143,959,746	G19R	probably damaging	Het
Slc20a1	A	G	2: 129,208,004	N361D	probably damaging	Het
Slc26a9	A	G	1: 131,763,909	D630G	probably benign	Het
Smtnl2	G	A	11: 72,401,399	A274V	probably damaging	Het
Trank1	T	C	9: 111,352,246		probably null	Het
Tspan10	T	A	11: 120,444,542	C159*	probably null	Het
Uba6	G	A	5: 86,164,765	T23I	probably benign	Het
Vmn2r74	T	C	7: 85,952,451	T660A	possibly damaging	Het
Vwa5b1	T	C	4: 138,578,672	N905S	probably benign	Het
Zfp831	T	C	2: 174,646,421	L963P	possibly damaging	Het
Zfp990	T	A	4: 145,537,789	N452K	probably benign	Het

Other mutations in Pkn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Pkn2	APN	3	142799019	missense	probably damaging	1.00
IGL00852:Pkn2	APN	3	142809816	unclassified	probably benign
IGL00917:Pkn2	APN	3	142853625	missense	probably damaging	1.00
IGL01147:Pkn2	APN	3	142829009	missense	probably benign	0.06
IGL01556:Pkn2	APN	3	142829317	missense	possibly damaging	0.88
IGL01574:Pkn2	APN	3	142839231	missense	possibly damaging	0.48
IGL02058:Pkn2	APN	3	142803663	missense	probably damaging	0.97
IGL02136:Pkn2	APN	3	142853590	missense	probably damaging	1.00
IGL02310:Pkn2	APN	3	142811580	missense	probably damaging	1.00
IGL02540:Pkn2	APN	3	142809704	missense	probably benign	0.01
IGL02607:Pkn2	APN	3	142794101	critical splice donor site	probably null
IGL03256:Pkn2	APN	3	142803550	splice site	probably null
voodoo	UTSW	3	142853538	missense	possibly damaging	0.78
R0001:Pkn2	UTSW	3	142828988	missense	probably benign	0.00
R0048:Pkn2	UTSW	3	142810827	missense	probably damaging	1.00
R0081:Pkn2	UTSW	3	142853582	missense	probably damaging	1.00
R0514:Pkn2	UTSW	3	142810458	missense	possibly damaging	0.76
R0670:Pkn2	UTSW	3	142839343	missense	probably damaging	0.99
R0709:Pkn2	UTSW	3	142830520	missense	probably damaging	0.98
R1025:Pkn2	UTSW	3	142821565	critical splice donor site	probably null
R1190:Pkn2	UTSW	3	142811525	critical splice donor site	probably null
R1602:Pkn2	UTSW	3	142853538	missense	possibly damaging	0.78
R1729:Pkn2	UTSW	3	142810701	missense	probably benign	0.00
R1756:Pkn2	UTSW	3	142810727	missense	possibly damaging	0.94
R1764:Pkn2	UTSW	3	142793854	missense	probably damaging	1.00
R1797:Pkn2	UTSW	3	142809528	missense	probably damaging	1.00
R1833:Pkn2	UTSW	3	142821647	missense	probably damaging	1.00
R2035:Pkn2	UTSW	3	142820587	missense	probably damaging	0.99
R2058:Pkn2	UTSW	3	142853471	missense	possibly damaging	0.93
R3779:Pkn2	UTSW	3	142793980	missense	possibly damaging	0.89
R3940:Pkn2	UTSW	3	142793911	missense	probably damaging	1.00
R3967:Pkn2	UTSW	3	142809677	missense	probably damaging	0.98
R4008:Pkn2	UTSW	3	142810458	missense	possibly damaging	0.76
R4160:Pkn2	UTSW	3	142803564	missense	probably benign	0.42
R4222:Pkn2	UTSW	3	142793866	nonsense	probably null
R4243:Pkn2	UTSW	3	142820578	missense	possibly damaging	0.64
R4380:Pkn2	UTSW	3	142830456	unclassified	probably benign
R4826:Pkn2	UTSW	3	142809509	missense	probably damaging	1.00
R4869:Pkn2	UTSW	3	142803618	missense	probably damaging	1.00
R5096:Pkn2	UTSW	3	142839331	missense	probably damaging	0.99
R5175:Pkn2	UTSW	3	142798923	missense	probably damaging	1.00
R5301:Pkn2	UTSW	3	142839206	critical splice donor site	probably null
R5839:Pkn2	UTSW	3	142821529	missense	probably benign	0.02
R6155:Pkn2	UTSW	3	142853693	missense	probably benign	0.00
R6198:Pkn2	UTSW	3	142810404	missense	probably benign	0.00
R6293:Pkn2	UTSW	3	142809704	missense	probably benign	0.15
R6494:Pkn2	UTSW	3	142803668	missense	possibly damaging	0.94
R6659:Pkn2	UTSW	3	142803587	missense	probably damaging	1.00
R6809:Pkn2	UTSW	3	142799004	missense	probably damaging	1.00
R7267:Pkn2	UTSW	3	142812015	missense	possibly damaging	0.90
R7367:Pkn2	UTSW	3	142810727	missense	probably benign	0.00
R7746:Pkn2	UTSW	3	142794107	missense	probably damaging	1.00
R7940:Pkn2	UTSW	3	142810719	missense	probably benign	0.00
R8324:Pkn2	UTSW	3	142829010	missense	probably benign	0.15
R8847:Pkn2	UTSW	3	142820640	missense	probably benign	0.29
R8947:Pkn2	UTSW	3	142811913	critical splice donor site	probably null
R9096:Pkn2	UTSW	3	142809488	missense	probably benign	0.03
R9097:Pkn2	UTSW	3	142809488	missense	probably benign	0.03
R9130:Pkn2	UTSW	3	142809484	missense	possibly damaging	0.51
R9226:Pkn2	UTSW	3	142793948	missense	probably damaging	1.00
R9267:Pkn2	UTSW	3	142811915	missense	probably null	0.97
R9277:Pkn2	UTSW	3	142810748	missense	probably benign	0.01
R9308:Pkn2	UTSW	3	142811963	missense	probably benign	0.21
R9372:Pkn2	UTSW	3	142829257	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCCACTTAAGGACGTGTTTCAGTC -3'
(R):5'- CACAGGGTACTTTGTTTGCAGAG -3'

Sequencing Primer
(F):5'- GTTTCAGTCCTCATTTAAAAATGGC -3'
(R):5'- CACTGCTGCATAAGGACGTGAC -3'

Posted On

2018-02-28