Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Pkn2'

216223

Institutional Source

Beutler Lab

Gene Symbol

Pkn2

Ensembl Gene

ENSMUSG00000004591

Gene Name

protein kinase N2

Synonyms

PRK2, Stk7, Prkcl2, 6030436C20Rik

MMRRC Submission

038892-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0709 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

142790902-142882004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 142830520 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 200 (T200I)

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: T200I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039566
Gene: ENSMUSG00000004591
AA Change: T200I

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

possibly damaging
Transcript: ENSMUST00000173830
AA Change: T200I

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133691
Gene: ENSMUSG00000004591
AA Change: T200I

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: ENSMUST00000174099

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174422
AA Change: T200I

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134559
Gene: ENSMUSG00000004591
AA Change: T200I

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

probably benign
Transcript: ENSMUST00000174680

SMART Domains

Protein: ENSMUSP00000134041
Gene: ENSMUSG00000004591

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

Meta Mutation Damage Score

0.0819

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,618,494	D137V	probably damaging	Het
Aar2	C	T	2: 156,567,010	P378L	probably damaging	Het
Abcc5	A	T	16: 20,376,592	H718Q	possibly damaging	Het
Ace	G	T	11: 105,981,538	L319F	probably damaging	Het
Angpt4	C	A	2: 151,934,514	P321T	possibly damaging	Het
Atrip	T	C	9: 109,067,103	N282S	probably benign	Het
AW554918	A	C	18: 25,463,654	S525R	probably damaging	Het
Casc4	T	A	2: 121,867,425	V74E	probably damaging	Het
Ccdc136	T	A	6: 29,414,970	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,067,662	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,136,646	H223R	probably benign	Het
Cd109	T	C	9: 78,671,978	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,961,548		probably benign	Het
Copb2	A	T	9: 98,563,167		probably benign	Het
Csrnp3	C	T	2: 66,022,563	S445L	probably damaging	Het
Cxcl13	G	T	5: 95,958,671	C34F	probably damaging	Het
Dars2	T	C	1: 161,046,928	E397G	probably benign	Het
Dlg5	C	T	14: 24,146,255	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,884,265		probably benign	Het
Eif4a1	C	A	11: 69,670,252	A76S	probably damaging	Het
Fam162b	T	A	10: 51,587,251	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,291,313	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359	F152L	probably damaging	Het
Galnt2	G	A	8: 124,343,346	G534D	probably benign	Het
Gm973	C	T	1: 59,558,234		probably benign	Het
Gprc5a	T	A	6: 135,078,950	S132T	probably damaging	Het
Hk3	G	A	13: 55,014,730	R47C	probably damaging	Het
Hrnr	A	T	3: 93,332,508	Q3351L	unknown	Het
Icam1	T	A	9: 21,019,127	F92L	probably damaging	Het
Ifi213	C	T	1: 173,589,800	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,298,904		probably benign	Het
Irx3	A	G	8: 91,799,420	V487A	possibly damaging	Het
Kalrn	A	G	16: 34,035,554	V204A	probably damaging	Het
Krt16	T	C	11: 100,246,454		probably benign	Het
Loxhd1	G	A	18: 77,404,969	V1369I	probably benign	Het
Med13	T	A	11: 86,319,596	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,188,188	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,827,733	D461V	unknown	Het
Nek6	T	A	2: 38,557,846	S41T	probably damaging	Het
Nudt22	T	C	19: 6,993,506	E232G	probably damaging	Het
Numbl	C	A	7: 27,273,990	F192L	probably damaging	Het
Olfr1202	C	T	2: 88,817,882	T237I	probably benign	Het
Olfr834	T	A	9: 18,988,126	I46K	probably damaging	Het
P2rx4	T	C	5: 122,714,404	V47A	probably damaging	Het
Phka1	T	A	X: 102,586,104	I478F	probably damaging	Het
Plcg1	T	A	2: 160,751,778		probably null	Het
Polg2	C	T	11: 106,768,413	G425R	probably damaging	Het
Ptprm	G	T	17: 66,944,332		probably null	Het
Reg1	G	A	6: 78,428,118	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,256,798	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,374,777	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,946,159	V28M	possibly damaging	Het
Snap29	A	G	16: 17,406,148	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,470		probably benign	Het
Sorcs3	G	A	19: 48,487,406	A235T	probably benign	Het
Sp100	T	A	1: 85,694,281	N362K	probably damaging	Het
Sqor	A	T	2: 122,799,855	I32F	probably benign	Het
Stx6	C	T	1: 155,193,294	R189C	probably damaging	Het
Tchp	T	C	5: 114,717,453	I298T	probably damaging	Het
Themis	A	G	10: 28,761,574	I225V	probably benign	Het
Timm50	A	T	7: 28,306,941	V245E	probably damaging	Het
Tnxb	A	G	17: 34,689,354	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,749,607	R205H	probably benign	Het
Tradd	T	C	8: 105,260,644	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,582,146	E37K	probably benign	Het
Ttn	T	C	2: 76,899,403		probably benign	Het
Ttr	A	T	18: 20,669,977		probably null	Het
Ubp1	A	G	9: 113,944,931	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,677,619	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,042,904	N98K	probably damaging	Het
Yipf5	A	G	18: 40,207,772	S176P	probably benign	Het
Zpbp2	C	T	11: 98,553,937	T97I	probably damaging	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
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
R6255:Pkn2	UTSW	3	142811599	missense	probably damaging	1.00
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
R9551:Pkn2	UTSW	3	142793833	missense	probably damaging	1.00
R9552:Pkn2	UTSW	3	142793833	missense	probably damaging	1.00
R9782:Pkn2	UTSW	3	142810476	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- GGGCAAATAGCTGAAAGCAACCATC -3'
(R):5'- TTTAACCGTTTCAATTGCTGGGTTATCG -3'

Sequencing Primer
(F):5'- cacagagggcagaacgg -3'
(R):5'- AGGATCGGAAACTCCATGGTA -3'

Posted On

2014-07-31