Mutagenetix > Incidental Mutation

Incidental Mutation 'R9800:Pkn3'

735138

Institutional Source

Beutler Lab

Gene Symbol

Pkn3

Ensembl Gene

ENSMUSG00000026785

Gene Name

protein kinase N3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9800 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30077684-30091022 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 30083278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 371 (R371*)

Ref Sequence

ENSEMBL: ENSMUSP00000041025 (fasta)

Gene Model

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

AlphaFold

Q8K045

Predicted Effect

probably null
Transcript: ENSMUST00000045246
AA Change: R371*

SMART Domains

Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: R371*

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

probably benign
Transcript: ENSMUST00000150770

SMART Domains

Protein: ENSMUSP00000114492
Gene: ENSMUSG00000026785

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.7%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,520,060	I1009N	possibly damaging	Het
Adcy8	T	A	15: 64,699,246	N1213Y	probably benign	Het
Ahctf1	T	C	1: 179,753,868	S1590G	possibly damaging	Het
Ahcyl1	A	T	3: 107,670,272	N277K	probably damaging	Het
Ank2	A	T	3: 126,946,500	S1912T	unknown	Het
Ank3	T	A	10: 69,898,127	N740K	unknown	Het
Atp13a3	A	C	16: 30,340,233	I800S	probably benign	Het
AU041133	T	A	10: 82,150,845	C111S	probably damaging	Het
Azi2	T	A	9: 118,055,856	I211N	probably benign	Het
Btbd11	C	A	10: 85,388,215	A296E	unknown	Het
Camk2b	T	C	11: 5,972,408	N480S	probably damaging	Het
Card6	A	G	15: 5,099,220	V898A	probably benign	Het
Copb2	T	A	9: 98,579,028	M381K	probably damaging	Het
Crisp1	A	T	17: 40,305,180	M102K	probably damaging	Het
Dcxr	A	T	11: 120,727,258		probably benign	Het
Dennd5a	C	A	7: 109,901,167	R917L	probably benign	Het
Egflam	T	A	15: 7,250,044	T494S	probably benign	Het
Fkbpl	T	A	17: 34,645,717	M153K	probably benign	Het
Helz2	A	T	2: 181,240,823	I59N	probably damaging	Het
Ldlrap1	T	C	4: 134,749,992	T194A	probably benign	Het
Lman1l	T	C	9: 57,615,777	D133G	probably damaging	Het
Lrrc27	T	C	7: 139,227,997	M340T	probably benign	Het
Lum	T	A	10: 97,568,295	S17R	probably benign	Het
Malrd1	A	G	2: 15,842,594	K1182E	unknown	Het
Map3k2	A	T	18: 32,200,016	D81V	possibly damaging	Het
Muc5b	A	T	7: 141,861,743	T2809S	possibly damaging	Het
Nle1	C	A	11: 82,903,050	V387L	probably benign	Het
Nr1h4	T	C	10: 89,454,756	D474G	probably benign	Het
Nup205	T	C	6: 35,186,533	I144T	possibly damaging	Het
Olfr1122	G	T	2: 87,388,164	C153F	probably damaging	Het
Olfr1309	G	A	2: 111,983,849	S75L	possibly damaging	Het
Olfr23	C	A	11: 73,941,160	L305I	probably benign	Het
Olfr444	A	T	6: 42,956,157	I220F	probably damaging	Het
Olfr566	T	C	7: 102,856,886	Y132C	probably benign	Het
Olfr732	G	A	14: 50,282,244	T3I	probably benign	Het
Plin2	A	T	4: 86,668,505	S30T	possibly damaging	Het
Ppfibp1	T	C	6: 147,016,271	V475A	probably benign	Het
Ppp2ca	T	C	11: 52,118,083	Y137H	probably damaging	Het
Rasgrf2	T	A	13: 92,131,352	Q48L	probably damaging	Het
Rnf168	G	C	16: 32,298,568	V316L	probably benign	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Spata31d1d	T	C	13: 59,726,823	H966R	possibly damaging	Het
Speg	C	A	1: 75,422,714	D2268E	probably benign	Het
Srp54c	A	G	12: 55,250,026	I170V	probably benign	Het
Syde2	A	G	3: 145,998,609	R439G	probably benign	Het
Tcof1	T	C	18: 60,816,486	K1155R	unknown	Het
Tmem184c	T	C	8: 77,596,458	I592V	probably benign	Het
Trav6-7-dv9	A	G	14: 53,710,212	Y57C	probably damaging	Het
Trpc1	T	A	9: 95,743,250	I108F	probably damaging	Het
Virma	A	T	4: 11,546,007	H1615L	probably damaging	Het
Vmn2r10	A	T	5: 109,002,538	D213E	probably damaging	Het
Vmn2r116	T	A	17: 23,401,425	V711E	probably damaging	Het
Vps16	T	C	2: 130,440,485	F413L	probably benign	Het
Vwa1	G	A	4: 155,772,879	P154L	probably damaging	Het
Wasf1	T	C	10: 40,936,697	I494T	unknown	Het
Wdr36	A	G	18: 32,852,647	D539G	possibly damaging	Het
Zfp81	A	T	17: 33,335,437	C134*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CTGAGAAATCCTGGGACCAGAG -3'
(R):5'- GAACCTGTCTCCATCTCTCAAG -3'

Sequencing Primer
(F):5'- ATCCTGGGACCAGAGTTTTATC -3'
(R):5'- CACAGATCCTGGGGATTTGAACTC -3'

Posted On

2022-11-14