Mutagenetix > Incidental Mutation

Incidental Mutation 'R8973:Pcsk7'

683248

Institutional Source

Beutler Lab

Gene Symbol

Pcsk7

Ensembl Gene

ENSMUSG00000035382

Gene Name

proprotein convertase subtilisin/kexin type 7

Synonyms

SPC7

MMRRC Submission

068807-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8973 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45906497-45929726 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 45927642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 617 (S617R)

Ref Sequence

ENSEMBL: ENSMUSP00000047508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034590] [ENSMUST00000039059] [ENSMUST00000215189] [ENSMUST00000215509] [ENSMUST00000216672]

AlphaFold

Q61139

Predicted Effect

probably benign
Transcript: ENSMUST00000034590

SMART Domains

Protein: ENSMUSP00000034590
Gene: ENSMUSG00000032085

Domain	Start	End	E-Value	Type
CH	26	133	1.53e-20	SMART
Pfam:Calponin	175	199	5.5e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000039059
AA Change: S617R

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000047508
Gene: ENSMUSG00000035382
AA Change: S617R

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:S8_pro-domain	52	140	9.7e-21	PFAM
Pfam:Peptidase_S8	177	464	4.7e-43	PFAM
Pfam:P_proprotein	524	611	1.3e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215189

Predicted Effect

probably benign
Transcript: ENSMUST00000215509

Predicted Effect

probably benign
Transcript: ENSMUST00000216672
AA Change: S617R

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.2997

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (77/77)

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. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It can process proalbumin and is thought to be responsible for the activation of HIV envelope glycoproteins gp160 and gp140. This gene has been implicated in the transcriptional regulation of housekeeping genes and plays a role in the regulation of iron metabolism. A t(11;14)(q23;q32) chromosome translocation associated with B-cell lymphoma occurs between this gene and its inverted counterpart. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal response to LPS. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	T	G	18: 57,592,067	L123V	possibly damaging	Het
1810022K09Rik	C	T	3: 14,607,245	V97I	probably benign	Het
2410089E03Rik	T	C	15: 8,203,793	W1201R	probably damaging	Het
4930404N11Rik	T	C	10: 81,364,015	D129G	unknown	Het
Adamts16	A	T	13: 70,738,840	I975N	probably benign	Het
Adcy8	A	G	15: 64,699,135	*1250Q	probably null	Het
Anapc1	A	T	2: 128,664,032	I628N	probably damaging	Het
Ankrd39	C	T	1: 36,539,358		probably benign	Het
Ankub1	A	T	3: 57,665,511	S263R	possibly damaging	Het
Aoah	A	G	13: 20,840,155	I94V	probably benign	Het
Aox2	A	G	1: 58,289,954	D186G	probably benign	Het
Arap2	A	T	5: 62,698,325	C589*	probably null	Het
Armt1	T	C	10: 4,439,550	L69P	probably damaging	Het
Atxn7l3	T	A	11: 102,292,772	Y185F	probably benign	Het
BC067074	A	G	13: 113,319,759	T780A		Het
Cacna2d4	A	G	6: 119,241,181	D159G	probably damaging	Het
Camta2	C	A	11: 70,670,358	R1184L	probably benign	Het
Ccr7	G	A	11: 99,145,823	T91I	probably damaging	Het
Cdh9	A	G	15: 16,831,045	T323A	possibly damaging	Het
Cep250	C	T	2: 155,970,122	A446V	unknown	Het
Clec2e	C	A	6: 129,093,411	G216*	probably null	Het
Col25a1	T	C	3: 130,475,626	S176P	unknown	Het
Col4a3	A	C	1: 82,715,331	I1446L	probably benign	Het
Cse1l	A	G	2: 166,943,080	E823G	probably damaging	Het
Dchs2	A	G	3: 83,354,456	E2677G	possibly damaging	Het
Dis3l	T	C	9: 64,339,542	E77G	probably damaging	Het
Dnah6	T	C	6: 73,144,751	D1416G	probably benign	Het
Dpyd	T	C	3: 119,314,933		probably null	Het
Dst	A	G	1: 34,228,855	D3112G	probably damaging	Het
Dusp13	A	C	14: 21,734,906	N128K	probably benign	Het
Emilin2	T	G	17: 71,275,084	K216Q	probably benign	Het
Enam	T	C	5: 88,494,088	W254R	possibly damaging	Het
Esrrg	A	C	1: 188,198,750	N346T	possibly damaging	Het
Fbn2	C	T	18: 58,153,856	G244R	probably damaging	Het
Fbxw25	A	G	9: 109,650,064	L373P		Het
Gm21060	C	A	19: 61,296,928	V48L	possibly damaging	Het
Gm30302	A	T	13: 49,788,239	D80E	probably benign	Het
Gtpbp3	T	C	8: 71,491,162	V254A	possibly damaging	Het
H2-DMb2	A	G	17: 34,148,725	D171G	probably damaging	Het
Hrg	A	T	16: 22,959,218	T242S	probably benign	Het
Inf2	G	T	12: 112,607,515	C751F	unknown	Het
Krt13	A	T	11: 100,119,438	M239K	possibly damaging	Het
Lrrc72	A	G	12: 36,253,294	S7P	probably benign	Het
Matn2	A	G	15: 34,433,050	I867V	probably benign	Het
Mdh2	C	T	5: 135,790,165	A325V	possibly damaging	Het
Mki67	C	A	7: 135,695,635	A2557S	possibly damaging	Het
Mrpl16	A	T	19: 11,772,943	R64*	probably null	Het
Nav1	T	C	1: 135,584,725	D199G	probably benign	Het
Nbn	T	C	4: 15,986,585	V662A	probably damaging	Het
Nek10	G	A	14: 14,931,321		probably null	Het
Olfr141	C	A	2: 86,806,856	V48F	probably benign	Het
Olfr298	A	G	7: 86,489,279	S91P	probably damaging	Het
Olfr834	C	A	9: 18,988,678	S230*	probably null	Het
Olfr884	T	A	9: 38,047,543	V107D	possibly damaging	Het
Pde10a	C	A	17: 8,924,239	Q6K	probably benign	Het
Pigq	A	C	17: 25,932,167	M396R	probably damaging	Het
Pkhd1l1	T	A	15: 44,586,437	D3865E	probably damaging	Het
Prag1	C	T	8: 36,099,590		probably benign	Het
Rint1	A	G	5: 23,811,730	T498A	probably benign	Het
Rnf213	T	A	11: 119,461,930	F3921I		Het
Rpp14	A	G	14: 8,088,768	S95G	probably benign	Het
Ryk	T	G	9: 102,861,921	Y78D	possibly damaging	Het
Sez6	A	T	11: 77,974,571	Q678L	probably damaging	Het
Slc22a21	T	C	11: 53,969,576	K141E	probably damaging	Het
Slc30a5	A	T	13: 100,806,694	I609K	probably damaging	Het
Slc44a4	T	C	17: 34,921,562	F244L	probably damaging	Het
Susd5	T	C	9: 114,082,504	Y161H	possibly damaging	Het
Syne3	A	G	12: 104,959,395		probably null	Het
Tbcd	G	C	11: 121,496,853		probably benign	Het
Tmc1	A	T	19: 20,900,851	N93K	probably benign	Het
Tmem100	T	A	11: 90,035,476	M43K	probably benign	Het
Tmem131l	A	T	3: 83,928,732	V690D	probably damaging	Het
Trim8	A	G	19: 46,515,464	Q485R	possibly damaging	Het
Vmn2r63	A	T	7: 42,928,495	H206Q	probably benign	Het
Vmn2r77	T	A	7: 86,802,942	N443K	possibly damaging	Het
Zan	T	A	5: 137,389,316	I4878F	unknown	Het
Zfand4	A	G	6: 116,314,080	D344G	probably benign	Het

Other mutations in Pcsk7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Pcsk7	APN	9	45927660	missense	probably benign
IGL01081:Pcsk7	APN	9	45928707	missense	probably benign
IGL02634:Pcsk7	APN	9	45919262	missense	possibly damaging	0.87
IGL02999:Pcsk7	APN	9	45927599	missense	possibly damaging	0.68
IGL03115:Pcsk7	APN	9	45914372	missense	probably damaging	1.00
IGL03149:Pcsk7	APN	9	45909480	missense	probably benign	0.37
R0243:Pcsk7	UTSW	9	45916059	missense	probably damaging	1.00
R0324:Pcsk7	UTSW	9	45913011	missense	possibly damaging	0.87
R0947:Pcsk7	UTSW	9	45911172	missense	probably damaging	1.00
R1443:Pcsk7	UTSW	9	45925986	missense	probably damaging	1.00
R1545:Pcsk7	UTSW	9	45914348	missense	probably damaging	1.00
R2182:Pcsk7	UTSW	9	45928619	missense	probably benign
R2939:Pcsk7	UTSW	9	45916024	missense	probably damaging	1.00
R3739:Pcsk7	UTSW	9	45926759	missense	possibly damaging	0.72
R4039:Pcsk7	UTSW	9	45928007	splice site	probably null
R4348:Pcsk7	UTSW	9	45919348	missense	probably damaging	1.00
R4974:Pcsk7	UTSW	9	45918862	missense	probably damaging	1.00
R5817:Pcsk7	UTSW	9	45926033	missense	probably benign	0.01
R6214:Pcsk7	UTSW	9	45910376	missense	possibly damaging	0.47
R6215:Pcsk7	UTSW	9	45910376	missense	possibly damaging	0.47
R6408:Pcsk7	UTSW	9	45909696	missense	probably benign	0.18
R7338:Pcsk7	UTSW	9	45925989	missense	probably benign	0.03
R7355:Pcsk7	UTSW	9	45909374	missense	probably benign	0.03
R7475:Pcsk7	UTSW	9	45927625	missense	probably damaging	1.00
R7540:Pcsk7	UTSW	9	45927673	splice site	probably null
R8305:Pcsk7	UTSW	9	45910409	missense	probably damaging	1.00
R8834:Pcsk7	UTSW	9	45919291	missense	possibly damaging	0.70
R9541:Pcsk7	UTSW	9	45909470	missense	probably benign	0.00
R9571:Pcsk7	UTSW	9	45909609	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- GAGATACTTCTGCAGGACCC -3'
(R):5'- CCCAACCTTGTAGCTGAAGAG -3'

Sequencing Primer
(F):5'- ATACTTCTGCAGGACCCTTGCG -3'
(R):5'- CCAACCTTGTAGCTGAAGAGAGTGAG -3'

Posted On

2021-10-11