Mutagenetix > Incidental Mutation

Incidental Mutation 'R1808:Pkn3'

203578

Institutional Source

Beutler Lab

Gene Symbol

Pkn3

Ensembl Gene

ENSMUSG00000026785

Gene Name

protein kinase N3

Synonyms

MMRRC Submission

039837-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30077684-30091022 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30079651 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 58 (R58C)

Ref Sequence

ENSEMBL: ENSMUSP00000114492 (fasta)

Gene Model

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

AlphaFold

Q8K045

Predicted Effect

probably damaging
Transcript: ENSMUST00000045246
AA Change: R45C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: R45C

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 damaging
Transcript: ENSMUST00000125346
AA Change: R49C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120268
Gene: ENSMUSG00000026785
AA Change: R49C

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 damaging
Transcript: ENSMUST00000150770
AA Change: R58C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114492
Gene: ENSMUSG00000026785
AA Change: R58C

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	G	T	5: 146,184,881	Y69*	probably null	Het
2310011J03Rik	A	G	10: 80,320,181		probably null	Het
A2ml1	A	C	6: 128,543,299	D1367E	probably damaging	Het
Adam6a	C	G	12: 113,544,714	L236V	probably benign	Het
Arf3	T	C	15: 98,741,073	N101S	probably benign	Het
Arhgap42	T	C	9: 9,180,050	E76G	probably damaging	Het
Atp2a1	A	G	7: 126,453,401	F382S	probably damaging	Het
Bud13	T	A	9: 46,288,407	F355L	probably benign	Het
C2	G	A	17: 34,864,532	P349S	probably damaging	Het
Cbl	C	A	9: 44,164,229	G373V	probably damaging	Het
Ccdc3	T	A	2: 5,138,085	L51Q	probably damaging	Het
Ccdc34	T	A	2: 110,044,256	M320K	probably benign	Het
Cntln	A	G	4: 85,096,763	E1097G	probably damaging	Het
Ctsc	A	C	7: 88,299,542	K195Q	possibly damaging	Het
Ctsf	C	T	19: 4,856,534	P163L	probably benign	Het
Dcxr	A	T	11: 120,725,612		probably null	Het
Dgki	T	C	6: 37,149,574	E157G	possibly damaging	Het
Dnah8	T	C	17: 30,684,186	L933P	probably damaging	Het
Dtna	T	C	18: 23,569,640	L76P	probably damaging	Het
Fcgbp	T	A	7: 28,085,090	C192S	probably benign	Het
Galnt5	T	A	2: 58,026,125	D683E	probably benign	Het
Greb1l	G	A	18: 10,542,143	A1297T	probably benign	Het
Grik4	T	C	9: 42,629,026	N286S	probably benign	Het
Hrc	A	T	7: 45,336,778	E451V	probably damaging	Het
Hrh3	G	A	2: 180,099,784		probably benign	Het
Ints13	A	G	6: 146,554,197	I152T	probably damaging	Het
Irgm1	A	T	11: 48,866,432	V184D	probably damaging	Het
Itga5	C	T	15: 103,350,399	A791T	probably damaging	Het
Kcp	T	C	6: 29,505,655	T73A	probably benign	Het
Kidins220	A	G	12: 25,003,009	T433A	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Kmt2d	T	C	15: 98,866,686	D12G	probably damaging	Het
Mms19	A	G	19: 41,966,259	S74P	probably damaging	Het
Myh1	G	T	11: 67,211,474	E864*	probably null	Het
Nek1	A	G	8: 61,016,230	D107G	probably damaging	Het
Npc1	T	C	18: 12,194,092	N1149D	probably damaging	Het
Olfr127	T	A	17: 37,903,770	S75T	probably damaging	Het
Olfr1280	T	C	2: 111,315,998	V173A	probably benign	Het
Olfr401	C	A	11: 74,121,431	S47R	probably damaging	Het
Olfr507	A	C	7: 108,622,610	K266T	possibly damaging	Het
Osbp	T	C	19: 11,970,778	S150P	probably damaging	Het
Paf1	T	C	7: 28,396,822	Y287H	probably damaging	Het
Pdgfrb	T	C	18: 61,068,102	V420A	probably benign	Het
Pdss1	G	T	2: 22,906,834	E120*	probably null	Het
Pink1	A	T	4: 138,317,319	V339E	probably damaging	Het
Pm20d1	G	A	1: 131,802,427	V235I	probably benign	Het
Ppp2r2a	A	G	14: 67,038,963	I31T	probably damaging	Het
Rbms3	T	C	9: 116,822,826	E152G	probably damaging	Het
Rfx1	A	C	8: 84,095,048	Q804H	probably damaging	Het
Rpe	G	T	1: 66,715,197	V143L	probably benign	Het
Sap30l	G	T	11: 57,809,945	V142L	probably benign	Het
Sh3tc1	T	C	5: 35,705,924	Q973R	probably benign	Het
Slc10a2	T	C	8: 5,104,856	T110A	probably damaging	Het
Snrnp200	A	T	2: 127,219,027		probably null	Het
Snrnp200	G	A	2: 127,219,028		probably null	Het
Spaca3	T	A	11: 80,867,685	V158E	probably damaging	Het
Sprtn	C	A	8: 124,903,031	N354K	probably benign	Het
Stab1	T	A	14: 31,141,144	Y2166F	possibly damaging	Het
Tmem106c	G	A	15: 97,968,667		probably null	Het
Tnc	A	G	4: 63,999,931	S1248P	probably damaging	Het
Tshr	T	C	12: 91,537,316	F343L	probably benign	Het
Ttn	C	A	2: 76,725,354	A30436S	probably damaging	Het
Ubxn2a	A	T	12: 4,885,839	M68K	probably benign	Het
Ucp2	T	C	7: 100,498,814	V238A	probably damaging	Het
Urgcp	C	A	11: 5,717,242	L365F	probably damaging	Het
Vezt	A	T	10: 93,990,164	D328E	probably damaging	Het
Vmn1r168	G	T	7: 23,540,759	V14L	probably benign	Het
Vps13b	T	C	15: 35,792,059	F2158L	probably benign	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
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
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'- CTAGACACTGCAGGGTTCTG -3'
(R):5'- TCAAAGCCAAGGCCAGGATTG -3'

Sequencing Primer
(F):5'- ACTGCAGGGTTCTGAGACACTC -3'
(R):5'- CCAAGGCCAGGATTGTGTTC -3'

Posted On

2014-06-23