Mutagenetix > Incidental Mutation

Incidental Mutation 'R5611:Pkn3'

438003

Institutional Source

Beutler Lab

Gene Symbol

Pkn3

Ensembl Gene

ENSMUSG00000026785

Gene Name

protein kinase N3

Synonyms

MMRRC Submission

043273-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30077684-30091022 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30079661 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 61 (G61D)

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: G48D

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

SMART Domains

Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: G48D

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: G52D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120268
Gene: ENSMUSG00000026785
AA Change: G52D

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: G61D

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

SMART Domains

Protein: ENSMUSP00000114492
Gene: ENSMUSG00000026785
AA Change: G61D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156197

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	G	C	11: 49,020,001	T535R	possibly damaging	Het
Adam34	A	T	8: 43,651,712	F299I	probably benign	Het
Adamts20	A	G	15: 94,273,280	M1854T	possibly damaging	Het
Apbb1	A	G	7: 105,559,483	V581A	probably damaging	Het
Apol6	T	A	15: 77,051,040		probably null	Het
Arhgef37	T	C	18: 61,507,263	T242A	probably benign	Het
Asxl2	T	C	12: 3,484,598	V265A	probably damaging	Het
Bicd1	A	T	6: 149,513,456	R556*	probably null	Het
C2	A	G	17: 34,872,384	I101T	probably damaging	Het
Cd22	T	A	7: 30,878,150		probably benign	Het
Cd33	T	C	7: 43,532,118	H206R	probably damaging	Het
Cd5l	G	A	3: 87,367,775	G207D	possibly damaging	Het
Chrd	A	T	16: 20,738,974	D774V	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Csn1s1	A	T	5: 87,677,644		probably null	Het
Dpyd	G	A	3: 119,194,293	V704I	probably benign	Het
Dscc1	C	A	15: 55,082,173	Q312H	probably benign	Het
Dysf	A	T	6: 84,064,878	T154S	probably damaging	Het
Foxi2	T	C	7: 135,411,704	V221A	probably benign	Het
Gabbr2	A	T	4: 46,804,105	I250N	probably damaging	Het
Gfap	T	A	11: 102,897,069	T17S	probably benign	Het
Gm9774	G	A	3: 92,428,451	P315S	probably damaging	Het
Hcrtr2	A	G	9: 76,323,314	V64A	probably damaging	Het
Igkv4-86	A	G	6: 68,910,675	S27P	probably damaging	Het
Kalrn	G	T	16: 34,175,780	F903L	probably damaging	Het
Lrrc31	A	G	3: 30,691,155		probably null	Het
Mlh3	T	C	12: 85,267,445	T656A	probably benign	Het
Mss51	G	T	14: 20,483,106	S432R	possibly damaging	Het
Mzf1	A	G	7: 13,044,627		probably benign	Het
Nop58	T	A	1: 59,710,513		probably benign	Het
Olfr121	A	T	17: 37,752,084	I77F	possibly damaging	Het
Otogl	T	C	10: 107,786,769	E1652G	probably damaging	Het
Pikfyve	C	A	1: 65,256,088	N1459K	probably damaging	Het
Plekha4	T	C	7: 45,553,641	S581P	probably benign	Het
Ppm1g	A	G	5: 31,206,097	F256L	probably damaging	Het
Proser1	A	G	3: 53,478,875	N726S	probably benign	Het
Rapgef1	A	G	2: 29,702,436	D480G	probably damaging	Het
Reln	G	A	5: 22,039,665	Q772*	probably null	Het
Sh3gl2	T	C	4: 85,355,331	V40A	probably benign	Het
Slc22a23	G	A	13: 34,305,239	T221I	probably benign	Het
Slc22a28	T	A	19: 8,063,333	T518S	probably damaging	Het
Slc4a1ap	A	G	5: 31,553,829		probably benign	Het
St8sia4	T	C	1: 95,627,684	D207G	probably damaging	Het
Syde1	T	A	10: 78,585,891	T609S	probably benign	Het
Tbc1d5	A	G	17: 50,735,967	I831T	probably damaging	Het
Tle4	T	C	19: 14,449,795	D754G	probably damaging	Het
Ttn	C	T	2: 76,732,525	W26949*	probably null	Het
Vmn1r222	A	C	13: 23,232,573	S157A	probably damaging	Het
Vmn1r51	T	A	6: 90,129,710	L203M	probably benign	Het
Vmn1r6	T	C	6: 57,002,377	L8P	probably damaging	Het
Vmn2r103	A	G	17: 19,793,642	D232G	probably damaging	Het
Vmn2r17	T	A	5: 109,428,164	D300E	probably damaging	Het
Vmn2r66	T	A	7: 85,005,743	K453*	probably null	Het
Vps13a	A	T	19: 16,725,572	D672E	probably damaging	Het
Vps54	A	G	11: 21,311,130	N599S	possibly damaging	Het
Zc3h13	A	T	14: 75,330,908	N1214Y	probably benign	Het
Zc3h18	T	G	8: 122,408,370		probably null	Het
Zfp51	A	G	17: 21,464,092	E323G	probably 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
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

2016-10-26