Mutagenetix > Incidental Mutation

Incidental Mutation 'R8425:Pkn3'

653391

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 #

R8425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30077684-30091022 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 30086501 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045246] [ENSMUST00000081838] [ENSMUST00000102865]

AlphaFold

Q8K045

Predicted Effect

probably null
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: ENSMUST00000081838

SMART Domains

Protein: ENSMUSP00000080521
Gene: ENSMUSG00000015335

Domain	Start	End	E-Value	Type
transmembrane domain	58	80	N/A	INTRINSIC
low complexity region	89	100	N/A	INTRINSIC
Pfam:zf-DHHC	106	232	1.9e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102865

SMART Domains

Protein: ENSMUSP00000099929
Gene: ENSMUSG00000015335

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:zf-DHHC	58	218	1.1e-38	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,347,786	E92G	possibly damaging	Het
4921501E09Rik	C	A	17: 33,067,064	A255S	probably benign	Het
Aasdh	A	T	5: 76,886,277	Y476N	possibly damaging	Het
Abca13	G	T	11: 9,314,623	V3002F	possibly damaging	Het
Adam23	C	T	1: 63,585,377	T788I	probably damaging	Het
Adgrb2	A	G	4: 130,005,057	T282A	possibly damaging	Het
Adgrg1	T	C	8: 95,008,407	Y402H	probably damaging	Het
Agpat2	A	T	2: 26,593,654	L257Q	probably benign	Het
Agpat3	A	T	10: 78,282,377	V255E	possibly damaging	Het
Akap6	A	G	12: 52,886,621	I299V	probably benign	Het
Anapc1	A	T	2: 128,669,868	F468L	probably damaging	Het
Apob	T	A	12: 7,988,842	N431K	possibly damaging	Het
Asprv1	T	A	6: 86,628,869	D232E	probably benign	Het
AW209491	A	G	13: 14,637,336	Y258C	probably damaging	Het
Bach2	C	T	4: 32,562,316	P261L	probably benign	Het
Cap2	T	A	13: 46,609,732	I146K	probably damaging	Het
Catsperb	A	T	12: 101,602,769	Q900L	probably benign	Het
Ccdc187	A	T	2: 26,281,536	V310D	probably damaging	Het
Cenpe	G	T	3: 135,242,627	G1275*	probably null	Het
Chd8	C	T	14: 52,210,555	G1663D	probably damaging	Het
Col6a5	T	A	9: 105,945,957	Y67F	unknown	Het
Cuzd1	G	T	7: 131,317,991	T132K	possibly damaging	Het
Ddr2	T	A	1: 170,036,016		probably benign	Het
Ddx42	T	C	11: 106,247,724	I783T	probably benign	Het
Dennd4a	T	A	9: 64,838,974	D47E	probably damaging	Het
Dirc2	A	T	16: 35,735,597	N164K	probably benign	Het
Dvl2	T	G	11: 70,007,847	W379G	probably damaging	Het
Ehbp1	A	G	11: 22,013,495	L1160P	probably damaging	Het
Eml6	A	G	11: 29,755,008	V1512A	probably benign	Het
Ephb6	T	C	6: 41,618,646	S780P	probably damaging	Het
Exo5	G	A	4: 120,922,363	L102F	probably benign	Het
Fam220a	A	T	5: 143,562,839	K2M	possibly damaging	Het
Fanci	A	T	7: 79,433,541	I731L	probably benign	Het
Gbp8	A	G	5: 105,017,774	S338P	probably damaging	Het
H2-M11	T	C	17: 36,548,757	I214T	probably benign	Het
Hhatl	C	A	9: 121,789,102	A196S	probably benign	Het
Hspg2	C	A	4: 137,550,867	C2988*	probably null	Het
Ifi213	A	G	1: 173,589,860	S329P	probably benign	Het
Lingo3	G	T	10: 80,834,982	F371L	probably benign	Het
Maml2	C	T	9: 13,620,117	T209I		Het
Ndufaf3	T	C	9: 108,566,983		probably benign	Het
Nfatc2	C	T	2: 168,536,296	G483E	probably damaging	Het
Npy6r	A	C	18: 44,276,003	T164P	probably benign	Het
Olfr117	T	A	17: 37,660,084	N83I	probably damaging	Het
Olfr1221	T	A	2: 89,112,393	N40Y	probably damaging	Het
Olfr132	T	C	17: 38,131,036	D52G	possibly damaging	Het
Olfr1502	T	C	19: 13,862,485	S231P	probably benign	Het
Olfr173	A	G	16: 58,797,603	M81T	probably benign	Het
Olfr659	A	G	7: 104,671,295	N198D	probably damaging	Het
Omg	T	C	11: 79,502,000	E344G	possibly damaging	Het
P2rx7	A	G	5: 122,670,458	E301G	probably damaging	Het
Pkhd1l1	T	C	15: 44,574,515	S3569P	probably benign	Het
Proc	C	T	18: 32,123,358	V419M	probably damaging	Het
Prss37	C	T	6: 40,516,118	W138*	probably null	Het
Prss52	T	A	14: 64,112,560	L212*	probably null	Het
Rnps1	A	G	17: 24,418,169	K8E	unknown	Het
Rpf2	A	T	10: 40,225,433	L202*	probably null	Het
Saraf	C	T	8: 34,165,448	P227L	probably benign	Het
Serpinb5	T	A	1: 106,881,785	M307K	possibly damaging	Het
Slc46a1	T	C	11: 78,468,645	S368P	possibly damaging	Het
Slfn8	T	A	11: 83,004,615	Q455L	possibly damaging	Het
Sv2b	A	G	7: 75,117,599	M683T	probably damaging	Het
Tacc3	G	T	5: 33,664,530	L211F	unknown	Het
Tbc1d8	A	G	1: 39,381,409	V681A	probably damaging	Het
Tbkbp1	T	C	11: 97,138,851	E493G	unknown	Het
Th	A	T	7: 142,894,086	V420E	possibly damaging	Het
Tmem132c	T	G	5: 127,564,357	V115G		Het
Usp40	G	A	1: 87,959,836	R915C	probably benign	Het
Wdr81	T	A	11: 75,451,522	H973L	possibly damaging	Het
Zdhhc6	A	G	19: 55,314,444	S42P	probably benign	Het
Zfp369	T	A	13: 65,296,675	I544N	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
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'- GATTGACACCTCACTCCATTGC -3'
(R):5'- TCAATCTCATCCCGGCCTAG -3'

Sequencing Primer
(F):5'- ATTGCTCCTCCATTATACAAACTG -3'
(R):5'- TCAACGCCTTGATAGCGTAG -3'

Posted On

2020-10-20