Mutagenetix > Incidental Mutation

Incidental Mutation 'R0271:Pcsk9'

35290

Institutional Source

Beutler Lab

Gene Symbol

Pcsk9

Ensembl Gene

ENSMUSG00000044254

Gene Name

proprotein convertase subtilisin/kexin type 9

Synonyms

Narc1

MMRRC Submission

038497-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0271 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106299531-106321522 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 106306246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000055757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049507]

AlphaFold

Q80W65

Predicted Effect

probably benign
Transcript: ENSMUST00000049507

SMART Domains

Protein: ENSMUSP00000055757
Gene: ENSMUSG00000044254

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
Pfam:Peptidase_S8	180	438	3.1e-34	PFAM
low complexity region	471	481	N/A	INTRINSIC
low complexity region	490	500	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.6%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous null mice exhibit increased clearance of circulating cholesterol and decreased plasma cholesterol levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	A	G	11: 70,507,474 (GRCm39)	Q173R	possibly damaging	Het
Ampd2	C	T	3: 107,994,032 (GRCm39)		probably benign	Het
Ankrd17	T	C	5: 90,402,658 (GRCm39)	S1467G	possibly damaging	Het
Arhgap31	T	G	16: 38,422,872 (GRCm39)	S1065R	possibly damaging	Het
Arhgef19	G	T	4: 140,977,918 (GRCm39)	M542I	probably benign	Het
C7	T	C	15: 5,044,862 (GRCm39)	D392G	possibly damaging	Het
Ccdc138	G	A	10: 58,411,645 (GRCm39)	C671Y	probably damaging	Het
Cdh8	A	G	8: 99,838,347 (GRCm39)	S498P	possibly damaging	Het
Cpb2	T	A	14: 75,495,149 (GRCm39)		probably null	Het
Cwc22	A	C	2: 77,751,202 (GRCm39)	N389K	probably benign	Het
Dgkb	T	A	12: 38,278,025 (GRCm39)	L550Q	probably damaging	Het
Dip2c	A	G	13: 9,665,811 (GRCm39)	R950G	probably damaging	Het
Eml6	A	G	11: 29,798,949 (GRCm39)	V437A	possibly damaging	Het
Fanca	T	C	8: 123,999,180 (GRCm39)		probably benign	Het
Fgd2	C	G	17: 29,585,982 (GRCm39)	L189V	possibly damaging	Het
Foxred2	A	C	15: 77,827,590 (GRCm39)	S590A	possibly damaging	Het
Gm1110	A	G	9: 26,831,962 (GRCm39)	F63S	probably damaging	Het
Gm14496	A	T	2: 181,637,747 (GRCm39)	M274L	probably benign	Het
Gm7008	T	A	12: 40,273,559 (GRCm39)		probably benign	Het
Gm9922	T	A	14: 101,966,989 (GRCm39)		probably benign	Het
Gtf3c3	A	T	1: 54,467,971 (GRCm39)	M222K	possibly damaging	Het
Hspa1b	A	G	17: 35,177,808 (GRCm39)	V59A	probably benign	Het
Impg1	T	C	9: 80,294,161 (GRCm39)		probably benign	Het
Khdc4	T	C	3: 88,593,636 (GRCm39)		probably benign	Het
Lpcat4	T	A	2: 112,073,590 (GRCm39)		probably null	Het
Mipol1	T	C	12: 57,507,740 (GRCm39)		probably benign	Het
Mrpl37	C	A	4: 106,923,658 (GRCm39)	R112L	possibly damaging	Het
Myo18b	T	C	5: 112,957,551 (GRCm39)	N1471D	possibly damaging	Het
Nes	G	A	3: 87,885,949 (GRCm39)	E1359K	possibly damaging	Het
Nipbl	A	T	15: 8,391,221 (GRCm39)	V251E	possibly damaging	Het
Nlrp1b	T	C	11: 71,052,591 (GRCm39)	I946V	possibly damaging	Het
Obscn	T	G	11: 58,947,568 (GRCm39)		probably benign	Het
Or10q1b	A	T	19: 13,682,499 (GRCm39)	T103S	probably benign	Het
Or4a2	T	A	2: 89,248,502 (GRCm39)	Y85F	probably benign	Het
Or51q1	T	A	7: 103,628,837 (GRCm39)	I146K	possibly damaging	Het
Or5m12	A	T	2: 85,734,633 (GRCm39)	M255K	possibly damaging	Het
Pck2	T	C	14: 55,782,041 (GRCm39)		probably null	Het
Phyhd1	A	T	2: 30,159,834 (GRCm39)	Q56L	probably benign	Het
Plxnc1	C	T	10: 94,673,780 (GRCm39)	G1001S	probably null	Het
Prss52	T	C	14: 64,351,127 (GRCm39)	V304A	probably benign	Het
Prss55	C	T	14: 64,313,056 (GRCm39)	G276D	probably benign	Het
Pzp	A	T	6: 128,496,477 (GRCm39)	Y252N	probably damaging	Het
Rad1	T	C	15: 10,490,543 (GRCm39)		probably null	Het
Ripply3	A	T	16: 94,136,616 (GRCm39)	E92D	possibly damaging	Het
Rpp30	T	A	19: 36,081,803 (GRCm39)	D255E	probably benign	Het
Rsad1	T	C	11: 94,439,290 (GRCm39)		probably benign	Het
Serpini2	A	G	3: 75,153,885 (GRCm39)	M358T	probably damaging	Het
Slc35a1	T	A	4: 34,664,125 (GRCm39)	E331V	probably benign	Het
Slc38a7	A	G	8: 96,572,506 (GRCm39)	F179L	probably damaging	Het
Stmn4	C	T	14: 66,593,732 (GRCm39)	Q42*	probably null	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tab2	G	A	10: 7,794,922 (GRCm39)	A520V	probably benign	Het
Tcp10a	A	G	17: 7,598,555 (GRCm39)	I162M	probably benign	Het
Tmprss13	A	G	9: 45,244,986 (GRCm39)		probably benign	Het
Tnfrsf14	A	G	4: 155,011,054 (GRCm39)		probably null	Het
Tpx2	A	G	2: 152,709,287 (GRCm39)		probably benign	Het
Vmn2r105	T	A	17: 20,454,965 (GRCm39)	N57I	probably damaging	Het
Wars1	C	T	12: 108,841,119 (GRCm39)	V220I	probably benign	Het
Washc1	T	A	17: 66,423,714 (GRCm39)	D212E	possibly damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Wdr43	A	G	17: 71,933,820 (GRCm39)	D139G	probably benign	Het
Zfp235	A	T	7: 23,836,556 (GRCm39)	H34L	possibly damaging	Het
Zkscan16	G	A	4: 58,952,391 (GRCm39)	V230I	probably benign	Het

Other mutations in Pcsk9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02140:Pcsk9	APN	4	106,311,843 (GRCm39)	missense	probably benign	0.00
IGL02709:Pcsk9	APN	4	106,304,886 (GRCm39)	splice site	probably benign
IGL02804:Pcsk9	APN	4	106,314,161 (GRCm39)	missense	probably damaging	1.00
IGL02850:Pcsk9	APN	4	106,316,062 (GRCm39)	missense	probably damaging	1.00
IGL03009:Pcsk9	APN	4	106,311,542 (GRCm39)	missense	probably damaging	1.00
IGL03294:Pcsk9	APN	4	106,303,967 (GRCm39)	missense	probably benign
R0321:Pcsk9	UTSW	4	106,301,891 (GRCm39)	missense	probably benign
R0413:Pcsk9	UTSW	4	106,311,538 (GRCm39)	missense	probably damaging	1.00
R0426:Pcsk9	UTSW	4	106,307,274 (GRCm39)	missense	possibly damaging	0.77
R0783:Pcsk9	UTSW	4	106,307,314 (GRCm39)	missense	probably benign	0.00
R2136:Pcsk9	UTSW	4	106,303,967 (GRCm39)	missense	probably benign	0.00
R4056:Pcsk9	UTSW	4	106,301,899 (GRCm39)	missense	probably benign	0.02
R4438:Pcsk9	UTSW	4	106,316,156 (GRCm39)	missense	probably benign	0.00
R4683:Pcsk9	UTSW	4	106,316,092 (GRCm39)	missense	possibly damaging	0.59
R4739:Pcsk9	UTSW	4	106,304,353 (GRCm39)	missense	probably damaging	1.00
R4801:Pcsk9	UTSW	4	106,304,766 (GRCm39)	missense	probably benign	0.43
R4802:Pcsk9	UTSW	4	106,304,766 (GRCm39)	missense	probably benign	0.43
R5249:Pcsk9	UTSW	4	106,320,950 (GRCm39)	missense	probably benign	0.01
R5307:Pcsk9	UTSW	4	106,304,371 (GRCm39)	missense	probably damaging	1.00
R5320:Pcsk9	UTSW	4	106,320,988 (GRCm39)	missense	probably benign	0.00
R5653:Pcsk9	UTSW	4	106,316,113 (GRCm39)	missense	probably damaging	1.00
R5827:Pcsk9	UTSW	4	106,306,144 (GRCm39)	missense	probably damaging	1.00
R6010:Pcsk9	UTSW	4	106,311,469 (GRCm39)	missense	possibly damaging	0.92
R6019:Pcsk9	UTSW	4	106,314,073 (GRCm39)	missense	probably benign	0.02
R6393:Pcsk9	UTSW	4	106,304,793 (GRCm39)	missense	probably benign	0.00
R7472:Pcsk9	UTSW	4	106,316,094 (GRCm39)	missense	probably benign	0.08
R7614:Pcsk9	UTSW	4	106,304,763 (GRCm39)	missense	probably benign	0.34
R7807:Pcsk9	UTSW	4	106,321,092 (GRCm39)	missense	possibly damaging	0.73
R8036:Pcsk9	UTSW	4	106,311,536 (GRCm39)	missense	possibly damaging	0.88
R8735:Pcsk9	UTSW	4	106,311,808 (GRCm39)	missense	probably damaging	1.00
R9258:Pcsk9	UTSW	4	106,316,047 (GRCm39)	missense	possibly damaging	0.63
R9404:Pcsk9	UTSW	4	106,311,723 (GRCm39)	missense	probably damaging	1.00
R9684:Pcsk9	UTSW	4	106,307,386 (GRCm39)	missense	probably benign	0.29
Z1176:Pcsk9	UTSW	4	106,316,138 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGAGGTCCCACTCTGTGACATGAAG -3'
(R):5'- AGAGCATCTGCTATGCAGTGAACG -3'

Sequencing Primer
(F):5'- CCAAAGTCCCCAAGGTAACT -3'
(R):5'- ATGCAGCTTGATAGTAGGCCC -3'

Posted On

2013-05-09