Mutagenetix > Incidental Mutations

Incidental Mutation 'R6945:Furin'

540842

Institutional Source

Beutler Lab

Gene Symbol

Furin

Ensembl Gene

ENSMUSG00000030530

Gene Name

furin (paired basic amino acid cleaving enzyme)

Synonyms

Pcsk3, PACE, SPC1, 9130404I01Rik, Fur

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6945 (G1)

Quality Score

155.008

Status

Not validated

Chromosome

Chromosomal Location

80388585-80405436 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80391090 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 667 (S667P)

Ref Sequence

ENSEMBL: ENSMUSP00000113370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080932] [ENSMUST00000107362] [ENSMUST00000120753] [ENSMUST00000122232] [ENSMUST00000205617] [ENSMUST00000206479] [ENSMUST00000206539] [ENSMUST00000206698] [ENSMUST00000206728] [ENSMUST00000206744]

Predicted Effect

probably benign
Transcript: ENSMUST00000080932

SMART Domains

Protein: ENSMUSP00000079733
Gene: ENSMUSG00000053158

Domain	Start	End	E-Value	Type
FCH	1	94	2.22e-26	SMART
coiled coil region	133	165	N/A	INTRINSIC
coiled coil region	320	344	N/A	INTRINSIC
SH2	458	536	8.41e-26	SMART
TyrKc	561	814	1.57e-144	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107362
AA Change: S667P

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102985
Gene: ENSMUSG00000030530
AA Change: S667P

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
PDB:1KN6\|A	27	107	4e-7	PDB
Pfam:Peptidase_S8	148	436	3.2e-62	PFAM
Pfam:P_proprotein	484	570	1.3e-33	PFAM
FU	577	620	4.67e-5	SMART
FU	638	681	2.13e-8	SMART
transmembrane domain	713	735	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120753
AA Change: S667P

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113793
Gene: ENSMUSG00000030530
AA Change: S667P

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:S8_pro-domain	33	107	5.8e-28	PFAM
Pfam:Peptidase_S8	144	427	9.1e-51	PFAM
Pfam:P_proprotein	484	570	4.4e-32	PFAM
FU	577	620	4.67e-5	SMART
FU	638	681	2.13e-8	SMART
transmembrane domain	713	735	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122232
AA Change: S667P

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113370
Gene: ENSMUSG00000030530
AA Change: S667P

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
PDB:1KN6\|A	27	107	4e-7	PDB
Pfam:Peptidase_S8	148	436	3.2e-62	PFAM
Pfam:P_proprotein	484	570	1.3e-33	PFAM
FU	577	620	4.67e-5	SMART
FU	638	681	2.13e-8	SMART
transmembrane domain	713	735	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205617

Predicted Effect

probably benign
Transcript: ENSMUST00000206352

Predicted Effect

probably benign
Transcript: ENSMUST00000206479

Predicted Effect

probably benign
Transcript: ENSMUST00000206539

Predicted Effect

probably benign
Transcript: ENSMUST00000206698

Predicted Effect

probably benign
Transcript: ENSMUST00000206728

Predicted Effect

probably benign
Transcript: ENSMUST00000206744

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

96% (51/53)

MGI Phenotype

FUNCTION: This gene encodes a calcium-dependent serine endoprotease that proteolytically activates different proprotein substrates traversing the secretory pathway. The encoded protein undergoes proteolytic autoactivation during which an N-terminal propeptide is cleaved to generate the mature protein. Mice lacking the encoded protein die at an embryonic stage and display hemodynamic insufficiency, cardiac ventral closure defect, axial rotation defect and abnormal yolk sac vasculature. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous null embryos die at E10.5-E11.5. Embryos homozygous for one knock-out allele show multiple tissue abnormalities including abnormal yolk sac vasculature and chorioallantoic fusion, failure of axial rotation, a kinked neural tube, exencephaly and severe ventral closure and cardiac defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	A	C	5: 109,676,845	N246K	probably benign	Het
AA792892	C	T	5: 94,383,631	H125Y	possibly damaging	Het
Abcc5	T	A	16: 20,400,009	T208S	probably benign	Het
Acaa2	A	G	18: 74,793,309	E112G	probably benign	Het
Adgrb1	A	G	15: 74,550,024	N881S	probably damaging	Het
Adgre1	A	G	17: 57,410,844	E314G	probably benign	Het
Adgre1	A	G	17: 57,420,399	E443G	probably benign	Het
Akp3	A	G	1: 87,125,631	Y102C	probably damaging	Het
Birc6	A	G	17: 74,579,531	N618S	probably benign	Het
Bpifc	A	G	10: 85,979,214	V296A	probably benign	Het
Cacna2d3	G	A	14: 28,969,318		probably benign	Het
Cacnb4	T	C	2: 52,474,954	N99S	probably damaging	Het
Cd38	A	G	5: 43,908,006	Y283C	probably damaging	Het
Celf4	T	A	18: 25,496,236	Q411L	probably damaging	Het
Cemip	A	T	7: 83,998,547	H108Q	probably damaging	Het
Col23a1	A	G	11: 51,561,893	E225G	unknown	Het
Dnah11	T	C	12: 118,060,310	E1902G	probably damaging	Het
Dst	A	G	1: 34,190,490	D2063G	probably damaging	Het
Fsip2	A	T	2: 82,992,840	I6306L	probably benign	Het
Glmp	T	A	3: 88,325,832	S92R	probably benign	Het
Gm11563	C	G	11: 99,658,472	C152S	unknown	Het
Gm3486	A	G	14: 41,484,561	V185A	probably benign	Het
Gm4070	G	A	7: 105,901,980	Q622*	probably null	Het
Hyal1	C	A	9: 107,579,170	A102E	probably damaging	Het
Invs	T	C	4: 48,421,785	C806R	probably benign	Het
L1td1	T	C	4: 98,733,696	V165A	probably benign	Het
Lama1	A	G	17: 67,813,866	T2666A		Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Lrrc8a	A	G	2: 30,256,227	Y351C	probably damaging	Het
Myh7b	T	C	2: 155,622,232	F551S	possibly damaging	Het
Myo19	A	G	11: 84,897,560	T333A	probably benign	Het
Nrp2	A	T	1: 62,760,788	N387I	probably damaging	Het
Oas2	T	C	5: 120,736,139	D543G	probably benign	Het
Olfr1040	A	G	2: 86,146,084	S217P	probably damaging	Het
Olfr117	A	G	17: 37,659,514	I273T	possibly damaging	Het
Pak7	A	G	2: 136,100,939	V427A	probably benign	Het
Pfas	G	A	11: 69,000,530	A247V	probably benign	Het
Psat1	T	A	19: 15,917,181	T115S	probably benign	Het
Psme4	T	A	11: 30,837,437	D1077E	probably benign	Het
Rabgap1l	A	G	1: 160,682,182	S442P	probably benign	Het
Ralgapa1	A	G	12: 55,776,191	M280T	possibly damaging	Het
Rb1cc1	A	T	1: 6,261,032	E394D	probably damaging	Het
Seh1l	T	C	18: 67,789,390	V271A	probably benign	Het
Sf3b1	A	T	1: 54,997,156	N919K	probably benign	Het
Sftpd	A	G	14: 41,174,492	S245P	possibly damaging	Het
Slc22a15	T	C	3: 101,924,114	E2G	probably damaging	Het
Spta1	A	G	1: 174,209,325	D1134G	possibly damaging	Het
Syna	A	G	5: 134,558,961	V378A	probably damaging	Het
Tchp	A	G	5: 114,709,350	K77E	possibly damaging	Het
Tescl	T	C	7: 24,333,531	N123S	probably benign	Het
Trio	C	T	15: 27,824,090	R1443Q	probably damaging	Het
Trrap	A	T	5: 144,790,855	Y462F	possibly damaging	Het
Vmn1r78	A	G	7: 12,152,905	T148A	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het

Other mutations in Furin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00816:Furin	APN	7	80392567	missense	probably damaging	1.00
IGL00910:Furin	APN	7	80390996	missense	probably benign
IGL01701:Furin	APN	7	80392492	missense	probably benign	0.11
IGL01701:Furin	APN	7	80390759	missense	probably benign	0.00
IGL01921:Furin	APN	7	80395954	unclassified	probably benign
IGL01981:Furin	APN	7	80392899	missense	probably damaging	1.00
IGL02035:Furin	APN	7	80390987	missense	probably benign
IGL02096:Furin	APN	7	80393459	missense	probably damaging	1.00
IGL02508:Furin	APN	7	80392521	missense	probably benign	0.01
IGL02611:Furin	APN	7	80391778	missense	probably benign	0.04
R0359:Furin	UTSW	7	80391284	missense	probably damaging	1.00
R0481:Furin	UTSW	7	80393549	missense	probably damaging	1.00
R0554:Furin	UTSW	7	80391284	missense	probably damaging	1.00
R1346:Furin	UTSW	7	80392184	unclassified	probably benign
R1347:Furin	UTSW	7	80392184	unclassified	probably benign
R1373:Furin	UTSW	7	80392184	unclassified	probably benign
R1553:Furin	UTSW	7	80398592	splice site	probably null
R1693:Furin	UTSW	7	80392482	missense	probably damaging	1.00
R4524:Furin	UTSW	7	80398634	splice site	probably null
R4687:Furin	UTSW	7	80393447	missense	probably benign	0.00
R4869:Furin	UTSW	7	80396979	missense	probably damaging	1.00
R5249:Furin	UTSW	7	80393421	missense	probably damaging	1.00
R5498:Furin	UTSW	7	80391794	missense	probably damaging	1.00
R5708:Furin	UTSW	7	80397855	intron	probably benign
R6086:Furin	UTSW	7	80395431	missense	probably damaging	1.00
R6505:Furin	UTSW	7	80393617	missense	probably damaging	1.00
R6772:Furin	UTSW	7	80393492	missense	probably damaging	1.00
R6954:Furin	UTSW	7	80396964	missense	possibly damaging	0.79
R7396:Furin	UTSW	7	80398114	missense	probably benign	0.00
R7510:Furin	UTSW	7	80393585	missense	probably damaging	1.00
R7542:Furin	UTSW	7	80393459	missense	probably damaging	1.00
R7577:Furin	UTSW	7	80396986	missense	probably damaging	1.00
R7812:Furin	UTSW	7	80395974	missense	possibly damaging	0.94
R7995:Furin	UTSW	7	80395447	missense	probably damaging	1.00
R8351:Furin	UTSW	7	80398722	missense	probably benign	0.00
R8389:Furin	UTSW	7	80390879	missense	probably benign	0.00
R8451:Furin	UTSW	7	80398722	missense	probably benign	0.00
X0050:Furin	UTSW	7	80395412	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACACTTTCACTCCCCGGAAG -3'
(R):5'- ACCAGAAAAGCTGTGTCCAG -3'

Sequencing Primer
(F):5'- TTTCACTCCCCGGAAGCTGAAG -3'
(R):5'- TGTCCAGCACTGCCCAC -3'

Posted On

2018-11-28