Mutagenetix > Incidental Mutation

Incidental Mutation 'R1418:Pkn3'

159884

Institutional Source

Beutler Lab

Gene Symbol

Pkn3

Ensembl Gene

ENSMUSG00000026785

Gene Name

protein kinase N3

Synonyms

MMRRC Submission

039474-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29967696-29981034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29973059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 323 (V323E)

Ref Sequence

ENSEMBL: ENSMUSP00000041025 (fasta)

Gene Model

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

AlphaFold

Q8K045

Predicted Effect

probably damaging
Transcript: ENSMUST00000045246
AA Change: V323E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: V323E

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

noncoding transcript
Transcript: ENSMUST00000126838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148650

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156197

Meta Mutation Damage Score

0.3182

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.5%

Validation Efficiency

97% (92/95)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	G	6: 52,156,131 (GRCm39)		probably benign	Het
Abtb3	C	A	10: 85,481,442 (GRCm39)	T948K	probably damaging	Het
Adamts12	T	A	15: 11,286,890 (GRCm39)	W832R	probably damaging	Het
Alb	A	G	5: 90,612,061 (GRCm39)		probably benign	Het
Arnt	A	G	3: 95,377,710 (GRCm39)		probably benign	Het
Asap2	A	C	12: 21,289,586 (GRCm39)	N501H	probably damaging	Het
Asap2	A	G	12: 21,289,590 (GRCm39)	E499G	probably damaging	Het
Atp5f1b	C	T	10: 127,919,167 (GRCm39)		probably benign	Het
Atrnl1	G	A	19: 57,924,137 (GRCm39)		probably null	Het
AW554918	T	G	18: 25,472,756 (GRCm39)		probably null	Het
Bhmt1b	A	G	18: 87,775,458 (GRCm39)	K327R	probably damaging	Het
Bltp3a	A	G	17: 28,113,551 (GRCm39)	K1241R	probably benign	Het
Bod1l	G	A	5: 41,976,814 (GRCm39)	T1500I	probably damaging	Het
Cd101	A	T	3: 100,926,091 (GRCm39)	Y209*	probably null	Het
Cdk12	T	A	11: 98,132,611 (GRCm39)	S1013R	unknown	Het
Cntd1	T	A	11: 101,176,566 (GRCm39)	L221Q	possibly damaging	Het
Cntn4	G	A	6: 106,321,831 (GRCm39)		probably null	Het
Col17a1	T	A	19: 47,659,944 (GRCm39)	D336V	probably damaging	Het
Creb3l4	A	G	3: 90,146,045 (GRCm39)	I193T	possibly damaging	Het
Cyp2d10	A	T	15: 82,290,106 (GRCm39)		probably null	Het
Dcun1d3	A	G	7: 119,457,158 (GRCm39)	F185L	probably damaging	Het
Dnah17	T	A	11: 117,964,849 (GRCm39)	N2365Y	probably damaging	Het
Dnah7a	T	A	1: 53,686,395 (GRCm39)		probably benign	Het
Dnajc16	G	T	4: 141,495,052 (GRCm39)	S520*	probably null	Het
Dsg1b	G	T	18: 20,530,487 (GRCm39)	E381*	probably null	Het
Dusp1	A	G	17: 26,727,293 (GRCm39)	V2A	probably benign	Het
Elf1	T	C	14: 79,798,215 (GRCm39)	V34A	probably damaging	Het
Endou	A	T	15: 97,616,854 (GRCm39)		probably benign	Het
Epn2	A	G	11: 61,413,912 (GRCm39)	S419P	probably benign	Het
Fat4	T	C	3: 38,944,962 (GRCm39)	I1285T	probably damaging	Het
Fcgr2b	T	C	1: 170,788,650 (GRCm39)	Y319C	probably damaging	Het
Fhip2a	G	A	19: 57,359,594 (GRCm39)	A45T	possibly damaging	Het
Gfra1	A	C	19: 58,226,849 (GRCm39)	S461A	possibly damaging	Het
Gli2	T	G	1: 118,769,666 (GRCm39)	I629L	probably damaging	Het
Gm17661	GA	GAA	2: 90,917,709 (GRCm38)		noncoding transcript	Het
Gnas	C	T	2: 174,187,007 (GRCm39)		probably benign	Het
Gpx3	G	A	11: 54,800,422 (GRCm39)	V207I	probably damaging	Het
Hormad2	A	G	11: 4,359,005 (GRCm39)		probably null	Het
Hsd17b4	G	T	18: 50,263,254 (GRCm39)		probably benign	Het
Kmt2b	A	G	7: 30,276,385 (GRCm39)		probably benign	Het
Lrch1	T	C	14: 75,041,709 (GRCm39)		probably benign	Het
Mark3	T	C	12: 111,594,271 (GRCm39)	I307T	possibly damaging	Het
Mroh8	G	A	2: 157,083,774 (GRCm39)		probably benign	Het
Mtch2	A	T	2: 90,683,359 (GRCm39)		probably benign	Het
Mtif2	G	A	11: 29,495,002 (GRCm39)	V701I	probably benign	Het
Mug1	C	T	6: 121,815,635 (GRCm39)	S13L	probably benign	Het
Naa25	T	G	5: 121,561,797 (GRCm39)	L450R	probably damaging	Het
Nr4a2	A	T	2: 56,998,336 (GRCm39)	N543K	probably damaging	Het
Nrp2	C	T	1: 62,822,491 (GRCm39)	R695*	probably null	Het
Or10ag53	G	T	2: 87,082,766 (GRCm39)	G162C	probably benign	Het
Or10s1	T	A	9: 39,985,768 (GRCm39)	L59H	probably damaging	Het
Or2z9	T	C	8: 72,854,231 (GRCm39)	L209P	probably damaging	Het
Otog	G	T	7: 45,924,039 (GRCm39)	A1133S	probably damaging	Het
Pclo	A	T	5: 14,728,144 (GRCm39)		probably benign	Het
Pdcd11	A	G	19: 47,118,516 (GRCm39)	D1794G	probably damaging	Het
Pde4d	C	A	13: 110,086,921 (GRCm39)	S609*	probably null	Het
Plekhd1	A	G	12: 80,739,659 (GRCm39)	T3A	probably benign	Het
Plekhg4	G	A	8: 106,105,742 (GRCm39)	A736T	probably benign	Het
Plppr2	C	T	9: 21,859,085 (GRCm39)	P401S	possibly damaging	Het
Poln	A	G	5: 34,236,319 (GRCm39)	V604A	probably benign	Het
Pramel21	T	A	4: 143,342,604 (GRCm39)	I237K	probably benign	Het
Prkd2	A	G	7: 16,603,470 (GRCm39)	D800G	probably benign	Het
Ptprb	A	G	10: 116,155,375 (GRCm39)	T710A	probably benign	Het
Qrfpr	C	A	3: 36,234,244 (GRCm39)	G366W	probably damaging	Het
Qser1	C	A	2: 104,607,776 (GRCm39)	A1471S	probably damaging	Het
Ralbp1	A	T	17: 66,166,143 (GRCm39)		probably benign	Het
Rars1	A	T	11: 35,700,567 (GRCm39)	Y505N	probably damaging	Het
Sec24b	T	C	3: 129,801,072 (GRCm39)	N408S	probably damaging	Het
Slc38a9	T	C	13: 112,826,714 (GRCm39)	C151R	probably benign	Het
Smcr8	T	C	11: 60,668,858 (GRCm39)	I2T	probably damaging	Het
Smtnl2	T	C	11: 72,292,247 (GRCm39)	T301A	probably damaging	Het
Smyd1	G	A	6: 71,239,151 (GRCm39)	T13I	probably benign	Het
Sp110	G	A	1: 85,522,106 (GRCm39)	H66Y	probably benign	Het
Szt2	A	T	4: 118,244,976 (GRCm39)	S1187T	probably benign	Het
Tdo2	A	G	3: 81,868,775 (GRCm39)		probably null	Het
Tfap2a	T	A	13: 40,870,680 (GRCm39)	M405L	possibly damaging	Het
Thap12	A	G	7: 98,366,037 (GRCm39)	D735G	probably damaging	Het
Tmem132b	C	A	5: 125,715,313 (GRCm39)	Q341K	probably benign	Het
Tnip3	T	C	6: 65,574,413 (GRCm39)	V88A	probably benign	Het
Trim45	G	T	3: 100,834,614 (GRCm39)	M432I	probably benign	Het
Ttn	A	G	2: 76,565,755 (GRCm39)	V28199A	possibly damaging	Het
Ube3b	T	C	5: 114,556,636 (GRCm39)	F989S	probably damaging	Het
Ubox5	A	G	2: 130,442,210 (GRCm39)	L159P	probably damaging	Het
Uevld	A	T	7: 46,587,758 (GRCm39)	V314E	possibly damaging	Het
Urb1	T	C	16: 90,566,354 (GRCm39)	M1478V	probably damaging	Het
Utrn	C	T	10: 12,589,094 (GRCm39)	V871I	probably benign	Het
Vat1l	T	C	8: 115,009,101 (GRCm39)		probably benign	Het
Vmn1r205	T	C	13: 22,777,049 (GRCm39)	K18E	probably benign	Het
Zfp518a	T	A	19: 40,902,803 (GRCm39)	Y911N	probably damaging	Het
Zfyve28	A	G	5: 34,374,590 (GRCm39)	C475R	probably 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
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
R8425:Pkn3	UTSW	2	29,976,513 (GRCm39)	critical splice donor site	probably null
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'- TGTTCTGCCACTGCATAGGCACTC -3'
(R):5'- TGGAAAAGATCAGGCTCAGCCCTC -3'

Sequencing Primer
(F):5'- TCCTGGGCTGCAAAGATCTG -3'
(R):5'- TCAGCCCTCACCTGAGTG -3'

Posted On

2014-03-14