Mutagenetix > Incidental Mutation

Incidental Mutation 'R7249:Pkn3'

563735

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 #

R7249 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30077684-30091022 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30084761 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 429 (R429Q)

Ref Sequence

ENSEMBL: ENSMUSP00000041025 (fasta)

Gene Model

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

AlphaFold

Q8K045

Predicted Effect

probably benign
Transcript: ENSMUST00000045246
AA Change: R429Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: R429Q

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,248,341	T38A	probably benign	Het
3425401B19Rik	G	T	14: 32,663,314	S231R	possibly damaging	Het
Abi1	T	C	2: 22,957,089	E250G	possibly damaging	Het
Actl6b	T	A	5: 137,555,085	S120T	probably damaging	Het
Adgrv1	G	A	13: 81,374,259	H5920Y	probably damaging	Het
Adra2c	G	A	5: 35,280,955	R357H	probably damaging	Het
Ap3d1	T	C	10: 80,741,933	D20G	probably damaging	Het
Arfgef3	A	T	10: 18,630,835	D847E	possibly damaging	Het
Cacna1d	T	C	14: 30,142,703	E434G	probably damaging	Het
Carm1	T	C	9: 21,586,209	Y356H	probably benign	Het
Clip1	T	C	5: 123,603,600	K1075R	probably damaging	Het
Cyp27b1	G	T	10: 127,051,049		probably null	Het
D630045J12Rik	A	T	6: 38,136,950	V1769D	possibly damaging	Het
Dchs2	C	T	3: 83,128,029	Q28*	probably null	Het
Dpp4	A	G	2: 62,385,203	F107L	probably benign	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,711,081		probably benign	Het
Faap24	A	G	7: 35,395,060	V105A	probably benign	Het
Gabra6	A	T	11: 42,317,432	D166E	probably damaging	Het
Gfpt1	A	G	6: 87,056,144	E117G	probably damaging	Het
H2-T10	T	C	17: 36,119,377	D224G	probably damaging	Het
Hspa12a	T	A	19: 58,805,433	E332V	probably benign	Het
Htr5b	T	A	1: 121,510,474	N343Y	probably damaging	Het
Irf8	C	A	8: 120,739,832	N5K	possibly damaging	Het
Itgb1	C	A	8: 128,720,404	Q467K	probably benign	Het
Itpr2	C	A	6: 146,311,052	C1522F	probably damaging	Het
Jmjd1c	T	A	10: 67,189,817	L138I	probably benign	Het
Lrrc8b	G	T	5: 105,481,267	R493L	probably benign	Het
Malrd1	G	T	2: 15,623,340	C400F	probably damaging	Het
March8	G	A	6: 116,406,234	E257K	probably benign	Het
Mastl	G	A	2: 23,146,139	H122Y	probably damaging	Het
Mis18a	T	C	16: 90,726,314	K98R	possibly damaging	Het
Msra	A	G	14: 64,440,763	V28A	probably benign	Het
Mtmr7	A	G	8: 40,590,477	V177A	probably benign	Het
Nelfcd	T	C	2: 174,423,206		probably null	Het
Nemp1	T	C	10: 127,693,526	S226P	probably damaging	Het
Nmnat1	G	A	4: 149,469,642	T147I	probably null	Het
Ntng2	A	G	2: 29,227,992	V148A	probably benign	Het
Nup214	A	G	2: 31,988,233	H304R	possibly damaging	Het
Olfr1239	T	C	2: 89,417,873	Y180C	probably damaging	Het
Phldb2	C	A	16: 45,801,614	A623S	probably damaging	Het
Pitrm1	C	T	13: 6,560,125	T411I	probably damaging	Het
Plcb4	A	G	2: 136,007,821		probably null	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Pnp	G	A	14: 50,951,430	V227I	probably benign	Het
Pskh1	T	C	8: 105,913,254	S189P	possibly damaging	Het
Rbpms2	T	G	9: 65,649,350	V24G	probably damaging	Het
Robo3	T	A	9: 37,424,833	I446L	probably benign	Het
Sept8	A	T	11: 53,535,122	K174I	probably damaging	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Slco4a1	A	G	2: 180,464,811	Y262C	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
Spidr	T	C	16: 15,966,648	S519G	probably benign	Het
Ssx2ip	A	G	3: 146,426,438	N218S	possibly damaging	Het
Svil	T	C	18: 5,056,270	V381A	probably benign	Het
Svil	T	C	18: 5,062,247	S769P	probably damaging	Het
Tep1	A	T	14: 50,824,275	C2595S	possibly damaging	Het
Tiam1	T	C	16: 89,843,255	Y858C	probably damaging	Het
Tie1	A	G	4: 118,486,228	V146A	probably benign	Het
Traf3ip1	G	T	1: 91,527,639	E578D	probably damaging	Het
Trim23	A	G	13: 104,188,155	Y247C	probably damaging	Het
Tsc2	A	G	17: 24,607,755	W896R	probably damaging	Het
Vmn1r157	T	C	7: 22,761,700	S2P	probably benign	Het
Xkr4	T	A	1: 3,216,810	T386S	probably damaging	Het
Zdhhc24	T	G	19: 4,878,861	V38G	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
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'- CTCGGATGGGTCATATGGAAAGTTAG -3'
(R):5'- TGTCTCAGAGTCTGCACCAG -3'

Sequencing Primer
(F):5'- TAGAATACCCCCATGGCTGAGATTG -3'
(R):5'- AGACCGCTGTTGAAGGGC -3'

Posted On

2019-06-26