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

067819-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29967696-29981034 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 29976513 bp (GRCm39)

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: 124,324,745 (GRCm39)	E92G	possibly damaging	Het
Aasdh	A	T	5: 77,034,124 (GRCm39)	Y476N	possibly damaging	Het
Abca13	G	T	11: 9,264,623 (GRCm39)	V3002F	possibly damaging	Het
Adam23	C	T	1: 63,624,536 (GRCm39)	T788I	probably damaging	Het
Adgrb2	A	G	4: 129,898,850 (GRCm39)	T282A	possibly damaging	Het
Adgrg1	T	C	8: 95,735,035 (GRCm39)	Y402H	probably damaging	Het
Agpat2	A	T	2: 26,483,666 (GRCm39)	L257Q	probably benign	Het
Agpat3	A	T	10: 78,118,211 (GRCm39)	V255E	possibly damaging	Het
Akap6	A	G	12: 52,933,404 (GRCm39)	I299V	probably benign	Het
Anapc1	A	T	2: 128,511,788 (GRCm39)	F468L	probably damaging	Het
Apob	T	A	12: 8,038,842 (GRCm39)	N431K	possibly damaging	Het
Asprv1	T	A	6: 86,605,851 (GRCm39)	D232E	probably benign	Het
AW209491	A	G	13: 14,811,921 (GRCm39)	Y258C	probably damaging	Het
Bach2	C	T	4: 32,562,316 (GRCm39)	P261L	probably benign	Het
Cap2	T	A	13: 46,763,208 (GRCm39)	I146K	probably damaging	Het
Catsperb	A	T	12: 101,569,028 (GRCm39)	Q900L	probably benign	Het
Ccdc187	A	T	2: 26,171,548 (GRCm39)	V310D	probably damaging	Het
Cenpe	G	T	3: 134,948,388 (GRCm39)	G1275*	probably null	Het
Chd8	C	T	14: 52,448,012 (GRCm39)	G1663D	probably damaging	Het
Col6a5	T	A	9: 105,823,156 (GRCm39)	Y67F	unknown	Het
Cuzd1	G	T	7: 130,919,720 (GRCm39)	T132K	possibly damaging	Het
Ddr2	T	A	1: 169,863,585 (GRCm39)		probably benign	Het
Ddx42	T	C	11: 106,138,550 (GRCm39)	I783T	probably benign	Het
Dennd4a	T	A	9: 64,746,256 (GRCm39)	D47E	probably damaging	Het
Dvl2	T	G	11: 69,898,673 (GRCm39)	W379G	probably damaging	Het
Ehbp1	A	G	11: 21,963,495 (GRCm39)	L1160P	probably damaging	Het
Eml6	A	G	11: 29,705,008 (GRCm39)	V1512A	probably benign	Het
Ephb6	T	C	6: 41,595,580 (GRCm39)	S780P	probably damaging	Het
Exo5	G	A	4: 120,779,560 (GRCm39)	L102F	probably benign	Het
Fam220a	A	T	5: 143,548,594 (GRCm39)	K2M	possibly damaging	Het
Fanci	A	T	7: 79,083,289 (GRCm39)	I731L	probably benign	Het
Gbp8	A	G	5: 105,165,640 (GRCm39)	S338P	probably damaging	Het
H2-M11	T	C	17: 36,859,649 (GRCm39)	I214T	probably benign	Het
Hhatl	C	A	9: 121,618,168 (GRCm39)	A196S	probably benign	Het
Hspg2	C	A	4: 137,278,178 (GRCm39)	C2988*	probably null	Het
Ifi213	A	G	1: 173,417,426 (GRCm39)	S329P	probably benign	Het
Lingo3	G	T	10: 80,670,816 (GRCm39)	F371L	probably benign	Het
Maml2	C	T	9: 13,531,413 (GRCm39)	T209I		Het
Ndufaf3	T	C	9: 108,444,182 (GRCm39)		probably benign	Het
Nfatc2	C	T	2: 168,378,216 (GRCm39)	G483E	probably damaging	Het
Npy6r	A	C	18: 44,409,070 (GRCm39)	T164P	probably benign	Het
Omg	T	C	11: 79,392,826 (GRCm39)	E344G	possibly damaging	Het
Or2g25	T	A	17: 37,970,975 (GRCm39)	N83I	probably damaging	Het
Or2h15	T	C	17: 38,441,927 (GRCm39)	D52G	possibly damaging	Het
Or4c116	T	A	2: 88,942,737 (GRCm39)	N40Y	probably damaging	Het
Or52n20	A	G	7: 104,320,502 (GRCm39)	N198D	probably damaging	Het
Or5k1	A	G	16: 58,617,966 (GRCm39)	M81T	probably benign	Het
Or9i1	T	C	19: 13,839,849 (GRCm39)	S231P	probably benign	Het
P2rx7	A	G	5: 122,808,521 (GRCm39)	E301G	probably damaging	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pkhd1l1	T	C	15: 44,437,911 (GRCm39)	S3569P	probably benign	Het
Proc	C	T	18: 32,256,411 (GRCm39)	V419M	probably damaging	Het
Prss37	C	T	6: 40,493,052 (GRCm39)	W138*	probably null	Het
Prss52	T	A	14: 64,350,009 (GRCm39)	L212*	probably null	Het
Rnps1	A	G	17: 24,637,143 (GRCm39)	K8E	unknown	Het
Rpf2	A	T	10: 40,101,429 (GRCm39)	L202*	probably null	Het
Saraf	C	T	8: 34,632,602 (GRCm39)	P227L	probably benign	Het
Serpinb5	T	A	1: 106,809,515 (GRCm39)	M307K	possibly damaging	Het
Slc46a1	T	C	11: 78,359,471 (GRCm39)	S368P	possibly damaging	Het
Slc49a4	A	T	16: 35,555,967 (GRCm39)	N164K	probably benign	Het
Slfn8	T	A	11: 82,895,441 (GRCm39)	Q455L	possibly damaging	Het
Sv2b	A	G	7: 74,767,347 (GRCm39)	M683T	probably damaging	Het
Tacc3	G	T	5: 33,821,874 (GRCm39)	L211F	unknown	Het
Tbc1d8	A	G	1: 39,420,490 (GRCm39)	V681A	probably damaging	Het
Tbkbp1	T	C	11: 97,029,677 (GRCm39)	E493G	unknown	Het
Th	A	T	7: 142,447,823 (GRCm39)	V420E	possibly damaging	Het
Tmem132c	T	G	5: 127,641,421 (GRCm39)	V115G		Het
Usp40	G	A	1: 87,887,558 (GRCm39)	R915C	probably benign	Het
Wdr81	T	A	11: 75,342,348 (GRCm39)	H973L	possibly damaging	Het
Zdhhc6	A	G	19: 55,302,876 (GRCm39)	S42P	probably benign	Het
Zfp369	T	A	13: 65,444,489 (GRCm39)	I544N	possibly damaging	Het

Other mutations in Pkn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Pkn3	APN	2	29,971,116 (GRCm39)	missense	probably damaging	0.97
IGL00781:Pkn3	APN	2	29,973,402 (GRCm39)	unclassified	probably benign
IGL00815:Pkn3	APN	2	29,971,212 (GRCm39)	missense	possibly damaging	0.88
IGL01576:Pkn3	APN	2	29,977,054 (GRCm39)	missense	probably damaging	1.00
IGL01897:Pkn3	APN	2	29,972,824 (GRCm39)	unclassified	probably benign
IGL02513:Pkn3	APN	2	29,973,149 (GRCm39)	missense	probably damaging	0.98
IGL02552:Pkn3	APN	2	29,970,879 (GRCm39)	missense	probably damaging	1.00
IGL02622:Pkn3	APN	2	29,973,158 (GRCm39)	missense	probably benign	0.28
IGL02689:Pkn3	APN	2	29,970,858 (GRCm39)	missense	probably damaging	1.00
IGL02996:Pkn3	APN	2	29,970,627 (GRCm39)	missense	probably benign	0.39
IGL03106:Pkn3	APN	2	29,975,257 (GRCm39)	missense	probably damaging	0.96
Enflamme	UTSW	2	29,973,049 (GRCm39)	unclassified	probably benign
Wrath	UTSW	2	29,978,596 (GRCm39)	critical splice donor site	probably null
PIT4151001:Pkn3	UTSW	2	29,980,539 (GRCm39)	missense	probably damaging	1.00
R0279:Pkn3	UTSW	2	29,973,309 (GRCm39)	missense	probably benign	0.16
R0370:Pkn3	UTSW	2	29,977,184 (GRCm39)	missense	probably damaging	1.00
R0491:Pkn3	UTSW	2	29,979,889 (GRCm39)	missense	probably damaging	1.00
R0600:Pkn3	UTSW	2	29,971,146 (GRCm39)	missense	probably benign	0.06
R1418:Pkn3	UTSW	2	29,973,059 (GRCm39)	missense	probably damaging	1.00
R1510:Pkn3	UTSW	2	29,969,776 (GRCm39)	critical splice donor site	probably null
R1535:Pkn3	UTSW	2	29,977,065 (GRCm39)	missense	probably benign
R1540:Pkn3	UTSW	2	29,974,703 (GRCm39)	missense	probably damaging	1.00
R1808:Pkn3	UTSW	2	29,969,663 (GRCm39)	missense	probably damaging	1.00
R1884:Pkn3	UTSW	2	29,972,840 (GRCm39)	missense	probably damaging	1.00
R1995:Pkn3	UTSW	2	29,979,989 (GRCm39)	missense	probably damaging	1.00
R3745:Pkn3	UTSW	2	29,980,353 (GRCm39)	missense	probably damaging	1.00
R4119:Pkn3	UTSW	2	29,973,049 (GRCm39)	unclassified	probably benign
R4258:Pkn3	UTSW	2	29,978,572 (GRCm39)	missense	probably damaging	0.99
R4665:Pkn3	UTSW	2	29,975,469 (GRCm39)	unclassified	probably benign
R4772:Pkn3	UTSW	2	29,974,692 (GRCm39)	splice site	probably null
R4808:Pkn3	UTSW	2	29,980,093 (GRCm39)	missense	probably damaging	1.00
R5038:Pkn3	UTSW	2	29,975,293 (GRCm39)	critical splice donor site	probably null
R5388:Pkn3	UTSW	2	29,971,086 (GRCm39)	missense	probably damaging	0.99
R5488:Pkn3	UTSW	2	29,978,596 (GRCm39)	critical splice donor site	probably null
R5611:Pkn3	UTSW	2	29,969,673 (GRCm39)	missense	probably damaging	1.00
R6001:Pkn3	UTSW	2	29,978,596 (GRCm39)	critical splice donor site	probably null
R6277:Pkn3	UTSW	2	29,972,957 (GRCm39)	missense	possibly damaging	0.93
R6562:Pkn3	UTSW	2	29,970,699 (GRCm39)	critical splice donor site	probably null
R6724:Pkn3	UTSW	2	29,980,562 (GRCm39)	missense	possibly damaging	0.94
R7061:Pkn3	UTSW	2	29,973,548 (GRCm39)	splice site	probably null
R7128:Pkn3	UTSW	2	29,973,327 (GRCm39)	missense	probably damaging	1.00
R7249:Pkn3	UTSW	2	29,974,773 (GRCm39)	missense	probably benign	0.00
R7475:Pkn3	UTSW	2	29,977,122 (GRCm39)	missense	probably benign	0.01
R7746:Pkn3	UTSW	2	29,980,596 (GRCm39)	missense	probably benign	0.00
R7747:Pkn3	UTSW	2	29,980,596 (GRCm39)	missense	probably benign	0.00
R7783:Pkn3	UTSW	2	29,969,634 (GRCm39)	missense	probably damaging	1.00
R8401:Pkn3	UTSW	2	29,970,071 (GRCm39)	missense	probably benign	0.00
R8535:Pkn3	UTSW	2	29,969,936 (GRCm39)	critical splice acceptor site	probably null
R8720:Pkn3	UTSW	2	29,975,196 (GRCm39)	missense	probably benign	0.01
R8743:Pkn3	UTSW	2	29,973,318 (GRCm39)	missense	probably benign	0.00
R9415:Pkn3	UTSW	2	29,968,332 (GRCm39)	missense	probably benign	0.20
R9437:Pkn3	UTSW	2	29,973,267 (GRCm39)	missense	possibly damaging	0.93
R9583:Pkn3	UTSW	2	29,976,723 (GRCm39)	missense	probably null	0.99
R9800:Pkn3	UTSW	2	29,973,290 (GRCm39)	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