Mutagenetix > Incidental Mutation

Incidental Mutation 'R1540:Pkn3'

171629

Institutional Source

Beutler Lab

Gene Symbol

Pkn3

Ensembl Gene

ENSMUSG00000026785

Gene Name

protein kinase N3

Synonyms

MMRRC Submission

039579-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1540 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30077684-30091022 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30084691 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 406 (V406I)

Ref Sequence

ENSEMBL: ENSMUSP00000041025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045246] [ENSMUST00000125346] [ENSMUST00000150770]

AlphaFold

Q8K045

Predicted Effect

probably damaging
Transcript: ENSMUST00000045246
AA Change: V406I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: V406I

Domain	Start	End	E-Value	Type
Hr1	15	78	3.45e-17	SMART
Hr1	98	166	6.19e-19	SMART
Hr1	171	239	3.32e-19	SMART
low complexity region	528	537	N/A	INTRINSIC
S_TKc	548	807	2.52e-93	SMART
S_TK_X	808	872	9.58e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125346

SMART Domains

Protein: ENSMUSP00000120268
Gene: ENSMUSG00000026785

Domain	Start	End	E-Value	Type
Hr1	19	82	3.45e-17	SMART
Hr1	102	170	6.19e-19	SMART
Hr1	175	238	6.4e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148650

Predicted Effect

probably benign
Transcript: ENSMUST00000150770

SMART Domains

Protein: ENSMUSP00000114492
Gene: ENSMUSG00000026785

Domain	Start	End	E-Value	Type
Hr1	28	91	3.45e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156197

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

96% (72/75)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation are viable, fertile and healthy. Mice with conditional loss of this gene and Pten in hematopoietic cells show a delay in leukemia development. [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
Agl	A	G	3: 116,780,735	C767R	probably benign	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Ap3d1	A	T	10: 80,715,941	I644N	probably benign	Het
Asb16	A	G	11: 102,272,576	I131V	probably benign	Het
Atp6v0a2	C	A	5: 124,646,698	A307D	probably damaging	Het
C1qtnf1	C	T	11: 118,447,923	H140Y	probably benign	Het
Cacna1g	T	A	11: 94,457,039	D741V	probably damaging	Het
Caprin2	T	A	6: 148,876,471	T211S	probably benign	Het
Carmil1	T	C	13: 24,099,054	E89G	possibly damaging	Het
Casz1	T	A	4: 148,942,900		probably benign	Het
Catsperb	G	A	12: 101,412,330	R30Q	probably benign	Het
Ccdc102a	A	T	8: 94,907,713		probably null	Het
Ccdc110	G	T	8: 45,942,325	E418*	probably null	Het
Ccdc90b	C	T	7: 92,581,816	A210V	probably benign	Het
Cdadc1	G	T	14: 59,586,083	A320E	probably damaging	Het
Cdadc1	T	A	14: 59,586,092	Q317L	probably damaging	Het
Cep170	C	A	1: 176,739,932	W1396L	probably damaging	Het
Col4a6	T	C	X: 141,227,858	T129A	probably damaging	Het
Ctcfl	C	T	2: 173,112,348	D319N	probably benign	Het
Dclk1	T	C	3: 55,477,823	S45P	probably damaging	Het
Efcab3	T	C	11: 105,108,900	I5581T	probably benign	Het
Evi2	T	C	11: 79,515,586	I388V	probably benign	Het
Fbxl5	A	T	5: 43,758,636	V435E	possibly damaging	Het
Fig4	A	T	10: 41,188,586	M887K	possibly damaging	Het
Glt8d1	G	A	14: 31,011,592	V345I	probably benign	Het
Gm5709	T	C	3: 59,618,652		noncoding transcript	Het
Hsp90b1	A	G	10: 86,694,042	F264L	probably damaging	Het
Id3	A	G	4: 136,143,939	S21G	possibly damaging	Het
Ighe	T	A	12: 113,271,446	N365Y	unknown	Het
Il17rd	T	G	14: 27,099,958	M403R	probably damaging	Het
Ints10	A	G	8: 68,796,713		probably benign	Het
Kcnc4	T	A	3: 107,445,427		probably null	Het
Kctd19	A	G	8: 105,387,879	S517P	probably damaging	Het
Lama5	A	G	2: 180,180,151	F2964L	probably benign	Het
Lin54	A	T	5: 100,480,250	N31K	probably damaging	Het
Lrrc8e	A	G	8: 4,234,990	K405R	probably benign	Het
Lyst	T	A	13: 13,635,101	M452K	possibly damaging	Het
Mroh7	A	G	4: 106,703,076	L677P	probably benign	Het
Mrps27	T	A	13: 99,405,050	F221I	probably benign	Het
Nhlrc1	C	T	13: 47,014,344	V146M	probably damaging	Het
Nlrp9b	T	A	7: 20,048,847	C895*	probably null	Het
Nod1	T	C	6: 54,943,975	T453A	probably benign	Het
Nodal	T	C	10: 61,422,985	V67A	probably damaging	Het
Ntsr1	T	C	2: 180,542,647	L381P	probably damaging	Het
Olfr1360	T	A	13: 21,674,530	Q138L	probably benign	Het
Olfr272	T	C	4: 52,910,996	D266G	probably benign	Het
Olfr311	T	A	11: 58,841,651	M179K	probably benign	Het
P2ry14	T	A	3: 59,115,265	K267M	probably benign	Het
Pcdh1	T	C	18: 38,189,726	N1018S	probably benign	Het
Prkcb	C	T	7: 122,627,693	T634I	probably damaging	Het
Psme2b	T	A	11: 48,945,382		probably null	Het
Ptgfrn	A	G	3: 101,060,654	I541T	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ralgapb	T	C	2: 158,465,826	V684A	probably benign	Het
Rbbp5	C	T	1: 132,494,282	R307*	probably null	Het
Rcor1	T	A	12: 111,103,603		probably benign	Het
Rlbp1	C	T	7: 79,380,060	A142T	probably damaging	Het
Rps6ka2	A	G	17: 7,292,906	E581G	probably null	Het
Sars	A	T	3: 108,433,145	V155E	probably benign	Het
Sec31a	G	C	5: 100,375,319	P569A	probably damaging	Het
Selenof	A	T	3: 144,594,924	K111*	probably null	Het
Serpinb7	C	T	1: 107,428,268	A7V	possibly damaging	Het
Smc4	T	A	3: 69,016,772	Y298N	probably damaging	Het
Snrpa1	T	A	7: 66,070,661	I204N	probably damaging	Het
Spry4	T	G	18: 38,601,687		probably benign	Het
Tcea2	A	G	2: 181,686,958	N261S	possibly damaging	Het
Tmem59l	A	G	8: 70,485,154	F192S	probably benign	Het
Tnr	T	A	1: 159,850,105	I20N	probably damaging	Het
Ttll5	C	T	12: 85,892,208	Q427*	probably null	Het
Vps45	C	T	3: 96,048,346	A111T	probably damaging	Het
Zfp395	T	C	14: 65,393,074	S358P	probably benign	Het
Zfp438	A	G	18: 5,210,740	V766A	probably benign	Het

Other mutations in Pkn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Pkn3	APN	2	30081104	missense	probably damaging	0.97
IGL00781:Pkn3	APN	2	30083390	unclassified	probably benign
IGL00815:Pkn3	APN	2	30081200	missense	possibly damaging	0.88
IGL01576:Pkn3	APN	2	30087042	missense	probably damaging	1.00
IGL01897:Pkn3	APN	2	30082812	unclassified	probably benign
IGL02513:Pkn3	APN	2	30083137	missense	probably damaging	0.98
IGL02552:Pkn3	APN	2	30080867	missense	probably damaging	1.00
IGL02622:Pkn3	APN	2	30083146	missense	probably benign	0.28
IGL02689:Pkn3	APN	2	30080846	missense	probably damaging	1.00
IGL02996:Pkn3	APN	2	30080615	missense	probably benign	0.39
IGL03106:Pkn3	APN	2	30085245	missense	probably damaging	0.96
Enflamme	UTSW	2	30083037	unclassified	probably benign
Wrath	UTSW	2	30088584	critical splice donor site	probably null
PIT4151001:Pkn3	UTSW	2	30090527	missense	probably damaging	1.00
R0279:Pkn3	UTSW	2	30083297	missense	probably benign	0.16
R0370:Pkn3	UTSW	2	30087172	missense	probably damaging	1.00
R0491:Pkn3	UTSW	2	30089877	missense	probably damaging	1.00
R0600:Pkn3	UTSW	2	30081134	missense	probably benign	0.06
R1418:Pkn3	UTSW	2	30083047	missense	probably damaging	1.00
R1510:Pkn3	UTSW	2	30079764	critical splice donor site	probably null
R1535:Pkn3	UTSW	2	30087053	missense	probably benign
R1808:Pkn3	UTSW	2	30079651	missense	probably damaging	1.00
R1884:Pkn3	UTSW	2	30082828	missense	probably damaging	1.00
R1995:Pkn3	UTSW	2	30089977	missense	probably damaging	1.00
R3745:Pkn3	UTSW	2	30090341	missense	probably damaging	1.00
R4119:Pkn3	UTSW	2	30083037	unclassified	probably benign
R4258:Pkn3	UTSW	2	30088560	missense	probably damaging	0.99
R4665:Pkn3	UTSW	2	30085457	unclassified	probably benign
R4772:Pkn3	UTSW	2	30084680	splice site	probably null
R4808:Pkn3	UTSW	2	30090081	missense	probably damaging	1.00
R5038:Pkn3	UTSW	2	30085281	critical splice donor site	probably null
R5388:Pkn3	UTSW	2	30081074	missense	probably damaging	0.99
R5488:Pkn3	UTSW	2	30088584	critical splice donor site	probably null
R5611:Pkn3	UTSW	2	30079661	missense	probably damaging	1.00
R6001:Pkn3	UTSW	2	30088584	critical splice donor site	probably null
R6277:Pkn3	UTSW	2	30082945	missense	possibly damaging	0.93
R6562:Pkn3	UTSW	2	30080687	critical splice donor site	probably null
R6724:Pkn3	UTSW	2	30090550	missense	possibly damaging	0.94
R7061:Pkn3	UTSW	2	30083536	splice site	probably null
R7128:Pkn3	UTSW	2	30083315	missense	probably damaging	1.00
R7249:Pkn3	UTSW	2	30084761	missense	probably benign	0.00
R7475:Pkn3	UTSW	2	30087110	missense	probably benign	0.01
R7746:Pkn3	UTSW	2	30090584	missense	probably benign	0.00
R7747:Pkn3	UTSW	2	30090584	missense	probably benign	0.00
R7783:Pkn3	UTSW	2	30079622	missense	probably damaging	1.00
R8401:Pkn3	UTSW	2	30080059	missense	probably benign	0.00
R8425:Pkn3	UTSW	2	30086501	critical splice donor site	probably null
R8535:Pkn3	UTSW	2	30079924	critical splice acceptor site	probably null
R8720:Pkn3	UTSW	2	30085184	missense	probably benign	0.01
R8743:Pkn3	UTSW	2	30083306	missense	probably benign	0.00
R9415:Pkn3	UTSW	2	30078320	missense	probably benign	0.20
R9437:Pkn3	UTSW	2	30083255	missense	possibly damaging	0.93
R9583:Pkn3	UTSW	2	30086711	missense	probably null	0.99
R9800:Pkn3	UTSW	2	30083278	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGTTTTGCTTCATATCAGCTTTGCCT -3'
(R):5'- AGCTCTCATGAAATCCCGGCCTA -3'

Sequencing Primer
(F):5'- aagacccccccccagac -3'
(R):5'- AATCCCGGCCTAGAGGAG -3'

Posted On

2014-04-13