Mutagenetix > Incidental Mutation

Incidental Mutation 'R7783:Pkn3'

599355

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 #

R7783 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30077684-30091022 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30079622 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 35 (E35V)

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: E35V

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

SMART Domains

Protein: ENSMUSP00000041025
Gene: ENSMUSG00000026785
AA Change: E35V

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: E39V

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

SMART Domains

Protein: ENSMUSP00000120268
Gene: ENSMUSG00000026785
AA Change: E39V

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

probably damaging
Transcript: ENSMUST00000150770
AA Change: E48V

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

SMART Domains

Protein: ENSMUSP00000114492
Gene: ENSMUSG00000026785
AA Change: E48V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	G	T	5: 124,078,812	Y447*	probably null	Het
Abl2	T	C	1: 156,559,071	V8A	probably benign	Het
Adam33	C	T	2: 131,058,337	R103K	unknown	Het
Adamts13	G	T	2: 26,990,585	A727S	not run	Het
Alpk2	A	T	18: 65,306,254	C689*	probably null	Het
Amt	C	T	9: 108,297,215	Q60*	probably null	Het
Ankrd12	A	G	17: 66,027,250		probably null	Het
Ankrd28	A	T	14: 31,706,813	N920K	probably damaging	Het
Ankrd36	T	C	11: 5,635,359	L390P	probably damaging	Het
Arvcf	T	G	16: 18,389,198	H7Q	probably benign	Het
Asns	A	G	6: 7,677,978	S367P	probably damaging	Het
BC005537	C	T	13: 24,803,399	R7W	possibly damaging	Het
C7	T	A	15: 5,007,710	H562L	probably benign	Het
Ccdc77	T	C	6: 120,350,373	D37G	probably damaging	Het
Cdc14a	C	T	3: 116,404,587	A58T	probably damaging	Het
Cdc42bpb	C	T	12: 111,336,025		probably null	Het
Corin	A	T	5: 72,301,624	F1068L	probably benign	Het
Epb42	T	G	2: 121,034,435	K58N	probably benign	Het
Ercc3	T	A	18: 32,248,243	S371T	probably damaging	Het
Fam193a	A	C	5: 34,431,180	K358Q	probably damaging	Het
Fem1a	G	A	17: 56,257,522	C205Y	probably benign	Het
Fh1	G	A	1: 175,612,178	T233M	probably damaging	Het
Ftsj3	CCTTCTTCTTCTTCTTCT	CCTTCTTCTTCTTCT	11: 106,252,551		probably benign	Het
Gabra6	T	C	11: 42,316,462	N265S	probably damaging	Het
Gm10801	C	CGTG	2: 98,663,807		probably null	Het
Gm996	A	T	2: 25,577,808	L697Q	probably damaging	Het
Grm6	T	A	11: 50,863,082	C738S	probably damaging	Het
Gtsf1	C	T	15: 103,428,569		probably benign	Het
Hcrtr2	T	A	9: 76,232,914	Y364F	probably damaging	Het
Ick	G	T	9: 78,135,645	V51F	probably damaging	Het
Ifit1bl1	T	C	19: 34,593,936	I374V	probably benign	Het
Il31ra	A	T	13: 112,541,251	F250L	probably benign	Het
Iqgap1	A	G	7: 80,809,059	V37A	probably benign	Het
Izumo3	A	T	4: 92,145,023	I182K	probably damaging	Het
Kidins220	G	A	12: 24,988,556	A36T	probably damaging	Het
Lrrtm1	G	T	6: 77,244,253	R231L	probably damaging	Het
Micalcl	A	T	7: 112,412,976	S678C	probably damaging	Het
Mme	T	G	3: 63,364,867	F629C	probably damaging	Het
Muc5b	T	A	7: 141,857,341	H1341Q	unknown	Het
Olfr1339	T	A	4: 118,734,902	D124E	probably damaging	Het
Olfr1391	A	G	11: 49,328,202	S264G	probably benign	Het
Olfr495	A	G	7: 108,396,089	H323R	probably benign	Het
Olfr513	A	T	7: 108,755,569	T238S	probably damaging	Het
Olfr61	A	G	7: 140,637,724	T8A	possibly damaging	Het
Parm1	A	T	5: 91,593,865	M31L	probably benign	Het
Pcdhb18	G	A	18: 37,489,821	C68Y	probably benign	Het
Pla2g4a	A	T	1: 149,872,744	Y238N	probably damaging	Het
Pld6	T	C	11: 59,787,271	D122G	probably damaging	Het
Prag1	G	T	8: 36,103,255	A331S	possibly damaging	Het
Rbm44	A	G	1: 91,168,829	D970G	probably benign	Het
Rps6kc1	A	G	1: 190,773,654	V1037A	probably benign	Het
Slc12a7	T	C	13: 73,805,469	V766A	probably benign	Het
Spata18	A	G	5: 73,668,610	T87A		Het
St3gal3	T	C	4: 117,940,123	M308V	probably benign	Het
Stx19	T	C	16: 62,822,286	L155S	probably benign	Het
Tespa1	A	T	10: 130,356,883	T145S	probably damaging	Het
Timm21	A	C	18: 84,947,721	F221V	possibly damaging	Het
Tlr1	A	T	5: 64,924,921	F771Y	probably damaging	Het
Tmem150a	C	A	6: 72,358,623	L125I	unknown	Het
Try4	T	C	6: 41,302,295	L4P	possibly damaging	Het
Txlna	C	T	4: 129,632,157	R299H	probably damaging	Het
Txndc16	A	T	14: 45,144,960	N609K	probably benign	Het
Upf1	T	C	8: 70,352,858	T46A	probably benign	Het
Zfp266	T	C	9: 20,500,330	N184D	probably benign	Het
Zfp407	A	G	18: 84,209,922	V1854A	possibly damaging	Het
Zfp626	T	A	7: 27,818,370	C259S	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
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'- ACAGGAGCTAGACACTGCAG -3'
(R):5'- CAAGGCCAGGATTGTGTTCG -3'

Sequencing Primer
(F):5'- CTAGACACTGCAGGGTTCTGAGAC -3'
(R):5'- GTGAGTCTCCCGTTCCCAG -3'

Posted On

2019-11-26