Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02996:Pkn3'

407151

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pkn3

Ensembl Gene

ENSMUSG00000026785

Gene Name

protein kinase N3

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02996

Quality Score

Status

Chromosome

Chromosomal Location

30077684-30091022 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30080615 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 148 (D148G)

Ref Sequence

ENSEMBL: ENSMUSP00000120268 (fasta)

Gene Model

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

AlphaFold

Q8K045

Predicted Effect

probably benign
Transcript: ENSMUST00000045246
AA Change: D144G

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: D144G

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
AA Change: D148G

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120268
Gene: ENSMUSG00000026785
AA Change: D148G

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

Coding Region Coverage

Validation Efficiency

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B4galnt1	C	T	10: 127,167,003	R130W	probably damaging	Het
Cd200r3	T	C	16: 44,954,317	L231P	probably damaging	Het
Cd200r4	C	A	16: 44,833,033	N55K	probably benign	Het
Cyb561d1	C	T	3: 108,199,645	R86Q	probably damaging	Het
Dst	T	C	1: 34,188,398	S1869P	possibly damaging	Het
Dusp6	T	C	10: 99,264,766	V208A	possibly damaging	Het
Dync2h1	A	T	9: 6,935,279	V4248E	probably damaging	Het
Exoc6b	T	A	6: 84,908,213	D248V	probably benign	Het
Fat4	A	C	3: 38,958,525	D2323A	probably damaging	Het
Fbxo6	T	C	4: 148,146,891	Y144C	probably damaging	Het
Gm7334	C	A	17: 50,699,056	N123K	possibly damaging	Het
Large2	T	C	2: 92,365,928	H518R	possibly damaging	Het
March4	G	A	1: 72,428,899	Q325*	probably null	Het
Mccc2	C	A	13: 99,960,979		probably benign	Het
Mical3	T	C	6: 120,958,558	D1669G	probably damaging	Het
Mkrn2	T	C	6: 115,611,907	F204L	probably benign	Het
Olfr59	T	C	11: 74,289,165	V173A	probably benign	Het
Olfr943	A	G	9: 39,185,065	R293G	probably damaging	Het
Ppef2	C	T	5: 92,235,900	W450*	probably null	Het
Rwdd1	G	T	10: 34,002,516	Q108K	probably damaging	Het
Senp3	T	C	11: 69,674,260	E496G	probably damaging	Het
St6gal1	T	A	16: 23,321,154	V25E	probably damaging	Het
Syt4	T	C	18: 31,444,146	K52E	probably damaging	Het
Tap1	C	A	17: 34,191,396	A349E	probably damaging	Het
Tfr2	T	A	5: 137,583,466	M605K	probably benign	Het
Tmem192	A	G	8: 64,968,790		probably null	Het
Trf	T	C	9: 103,220,903	E52G	probably benign	Het
Ttn	A	G	2: 76,726,187	V30158A	probably damaging	Het
Unc5a	A	G	13: 54,996,178	E152G	probably damaging	Het
Vmn2r57	T	A	7: 41,399,741	K861N	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
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
R1540:Pkn3	UTSW	2	30084691	missense	probably damaging	1.00
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

Posted On

2016-08-02