Mutagenetix > Incidental Mutation

Incidental Mutation 'R9415:Pkn3'

711980

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 #

R9415 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30077684-30091022 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30078320 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 10 (Y10C)

Ref Sequence

ENSEMBL: ENSMUSP00000114492 (fasta)

Gene Model

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

AlphaFold

Q8K045

Predicted Effect

probably benign
Transcript: ENSMUST00000045246

SMART Domains

Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785

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
AA Change: Y10C

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114492
Gene: ENSMUSG00000026785
AA Change: Y10C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc1	A	G	2: 128,634,678	M1340T	probably benign	Het
Arhgef15	A	G	11: 68,951,407	L457P	probably damaging	Het
Arih2	A	T	9: 108,609,787	C317S	probably damaging	Het
Asb14	A	T	14: 26,911,836	T333S	probably damaging	Het
Atp13a4	T	C	16: 29,409,003	N1012S		Het
Capn9	C	A	8: 124,605,710	D429E	probably benign	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Cntrob	C	T	11: 69,302,915	R803Q	possibly damaging	Het
Dnah8	A	G	17: 30,810,323	I4089V	probably benign	Het
Fam162b	A	G	10: 51,590,059		probably null	Het
Fhod3	A	G	18: 24,969,187	D180G	probably damaging	Het
Gtf3c4	A	G	2: 28,833,954	S589P	possibly damaging	Het
Jcad	T	C	18: 4,673,912	L558P	probably damaging	Het
Kmt2d	A	G	15: 98,839,705	I5170T	unknown	Het
Lamb3	T	C	1: 193,326,011	F251L	probably benign	Het
Lpxn	T	A	19: 12,824,972	D220E	probably benign	Het
Mex3a	T	A	3: 88,537,173	F519I	probably damaging	Het
Mfap1a	T	C	2: 121,506,520	M8V	probably benign	Het
Mical3	T	A	6: 120,957,751	D1789V	probably damaging	Het
Mpdz	G	A	4: 81,317,668	Q1211*	probably null	Het
Myd88	A	G	9: 119,338,004		probably null	Het
Myof	T	A	19: 37,952,964	K799N	probably damaging	Het
Naip2	T	A	13: 100,161,735	S598C	probably damaging	Het
Ndst4	C	T	3: 125,724,736	S354L	probably benign	Het
Ntn4	A	G	10: 93,644,626	T71A	probably benign	Het
Olfr392	A	G	11: 73,814,317	I255T	probably damaging	Het
Olfr512	T	A	7: 108,713,835	W161R	probably damaging	Het
Olfr683	T	G	7: 105,144,291	M7L	probably benign	Het
Olfr863-ps1	A	G	9: 19,941,904	W179R	probably benign	Het
Omd	A	C	13: 49,592,361	M416L	probably benign	Het
Oog1	G	C	12: 87,608,316	L411F	probably damaging	Het
Pde4dip	T	C	3: 97,753,152	Q670R	possibly damaging	Het
Pex13	C	A	11: 23,651,034	G272V	probably damaging	Het
Pfkl	A	T	10: 77,988,247	V769D	probably damaging	Het
Pomgnt1	A	G	4: 116,156,181	H500R	probably damaging	Het
Rasef	T	C	4: 73,727,645	T496A	probably benign	Het
Rgs6	A	G	12: 83,137,392	S459G	probably benign	Het
Serpinb6b	A	T	13: 32,975,019	M187L		Het
Shcbp1l	A	G	1: 153,445,881	I408M	possibly damaging	Het
Slc25a45	T	C	19: 5,884,939	V272A	probably damaging	Het
Tlr4	T	C	4: 66,827,923		probably null	Het
Unc80	A	T	1: 66,510,905	N774I		Het
Urb2	T	A	8: 124,029,874	S773R	possibly damaging	Het
Vmn1r35	A	T	6: 66,679,131	V185E	probably damaging	Het
Vps13d	A	C	4: 145,069,957	V3691G		Het
Wdtc1	A	G	4: 133,295,373	V554A	possibly damaging	Het
Xrn1	A	T	9: 95,969,474	M182L	probably damaging	Het
Zfp747	T	C	7: 127,374,026	H324R	possibly damaging	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
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'- GTATACAGCCTTCCAAGAGGAC -3'
(R):5'- GTGTATAAGCTAGACAGGCCG -3'

Sequencing Primer
(F):5'- CTTCCAAGAGGACTGGGGG -3'
(R):5'- CTAGACAGGCCGAGAAGGATC -3'

Posted On

2022-05-16