Mutagenetix > Incidental Mutation

Incidental Mutation 'R0481:Furin'

43369

Institutional Source

Beutler Lab

Gene Symbol

Furin

Ensembl Gene

ENSMUSG00000030530

Gene Name

furin, paired basic amino acid cleaving enzyme

Synonyms

PACE, 9130404I01Rik, SPC1, Pcsk3, Fur

MMRRC Submission

038681-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0481 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80038942-80055188 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80043297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 305 (C305R)

Ref Sequence

ENSEMBL: ENSMUSP00000113370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107362] [ENSMUST00000120753] [ENSMUST00000122232]

AlphaFold

P23188

Predicted Effect

probably damaging
Transcript: ENSMUST00000107362
AA Change: C305R

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

SMART Domains

Protein: ENSMUSP00000102985
Gene: ENSMUSG00000030530
AA Change: C305R

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 damaging
Transcript: ENSMUST00000120753
AA Change: C305R

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

SMART Domains

Protein: ENSMUSP00000113793
Gene: ENSMUSG00000030530
AA Change: C305R

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

probably damaging
Transcript: ENSMUST00000122232
AA Change: C305R

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

SMART Domains

Protein: ENSMUSP00000113370
Gene: ENSMUSG00000030530
AA Change: C305R

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

noncoding transcript
Transcript: ENSMUST00000146771

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153446

Predicted Effect

probably benign
Transcript: ENSMUST00000206352

Meta Mutation Damage Score

0.9641

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

95% (89/94)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,190,666 (GRCm39)	N39Y	probably benign	Het
Adamts10	C	T	17: 33,768,347 (GRCm39)	Q840*	probably null	Het
Aff2	C	T	X: 68,878,248 (GRCm39)	T678I	probably damaging	Het
Ahctf1	A	G	1: 179,587,836 (GRCm39)	V1418A	probably benign	Het
Ankrd11	G	A	8: 123,626,775 (GRCm39)	R136C	probably damaging	Het
Arf5	A	G	6: 28,426,075 (GRCm39)	Y154C	probably damaging	Het
AW551984	A	G	9: 39,511,912 (GRCm39)	V33A	probably null	Het
B4galt5	A	G	2: 167,151,154 (GRCm39)	L118P	probably damaging	Het
Bcl9l	A	G	9: 44,417,979 (GRCm39)	I606V	probably benign	Het
Bdp1	A	G	13: 100,177,962 (GRCm39)	I1969T	probably benign	Het
Bicd1	A	T	6: 149,413,389 (GRCm39)	D260V	possibly damaging	Het
Cap1	A	T	4: 122,756,868 (GRCm39)	H272Q	possibly damaging	Het
Ccnk	A	G	12: 108,165,568 (GRCm39)		probably benign	Het
Cd209f	A	T	8: 4,155,558 (GRCm39)		probably null	Het
Cdk13	C	A	13: 17,894,079 (GRCm39)	A1123S	probably damaging	Het
Cdx1	C	T	18: 61,153,564 (GRCm39)	R158H	probably damaging	Het
Chd8	A	G	14: 52,474,663 (GRCm39)	S123P	probably benign	Het
Cwc22	G	A	2: 77,738,455 (GRCm39)	A497V	probably damaging	Het
Cwh43	T	C	5: 73,575,370 (GRCm39)	S296P	probably damaging	Het
Dhx38	A	T	8: 110,282,848 (GRCm39)		probably benign	Het
Dnah5	T	A	15: 28,383,745 (GRCm39)	M2989K	probably benign	Het
Dpy19l4	A	C	4: 11,272,993 (GRCm39)		probably benign	Het
F11r	A	T	1: 171,288,847 (GRCm39)	H155L	probably benign	Het
Fcgbpl1	A	T	7: 27,853,174 (GRCm39)	D1487V	probably damaging	Het
Fitm2	A	G	2: 163,311,634 (GRCm39)	V193A	probably benign	Het
Foxk1	T	A	5: 142,434,578 (GRCm39)	S281T	probably benign	Het
Fut8	T	A	12: 77,495,334 (GRCm39)	V308D	probably damaging	Het
Gjb3	T	A	4: 127,220,125 (GRCm39)	I136F	probably benign	Het
Glmn	A	T	5: 107,708,800 (GRCm39)	S385T	probably benign	Het
Glp1r	T	A	17: 31,150,191 (GRCm39)	M371K	probably benign	Het
Gpr179	T	C	11: 97,240,544 (GRCm39)	H293R	probably damaging	Het
H2-M11	A	T	17: 36,859,846 (GRCm39)	R280*	probably null	Het
Hadhb	T	A	5: 30,373,543 (GRCm39)	H78Q	probably damaging	Het
Hectd4	A	G	5: 121,433,569 (GRCm39)		probably benign	Het
Hexa	A	G	9: 59,462,693 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Hyal6	G	A	6: 24,743,417 (GRCm39)	C371Y	probably damaging	Het
Il1rap	T	C	16: 26,511,585 (GRCm39)	Y210H	probably damaging	Het
Ino80	A	T	2: 119,261,497 (GRCm39)	H722Q	probably damaging	Het
Kcnt1	A	G	2: 25,782,508 (GRCm39)	N200S	probably damaging	Het
Kif27	T	A	13: 58,459,078 (GRCm39)		probably benign	Het
Lyst	T	C	13: 13,852,537 (GRCm39)	V2179A	probably benign	Het
Macf1	C	A	4: 123,377,815 (GRCm39)		probably null	Het
Mamdc4	A	G	2: 25,461,228 (GRCm39)	M1T	probably null	Het
Mansc4	A	G	6: 146,976,725 (GRCm39)	I297T	possibly damaging	Het
Mdn1	G	A	4: 32,767,182 (GRCm39)		probably benign	Het
Mib2	A	G	4: 155,740,519 (GRCm39)		probably benign	Het
Mon2	A	G	10: 122,849,301 (GRCm39)	V1333A	possibly damaging	Het
Ndst2	T	C	14: 20,774,536 (GRCm39)	D840G	possibly damaging	Het
Nell2	A	T	15: 95,330,563 (GRCm39)		probably null	Het
Or4c102	A	T	2: 88,422,999 (GRCm39)	I284F	probably damaging	Het
Or4k51	T	A	2: 111,584,930 (GRCm39)	M112K	probably damaging	Het
Or5g29	C	A	2: 85,421,448 (GRCm39)	A188E	possibly damaging	Het
Pde5a	C	T	3: 122,611,726 (GRCm39)		probably benign	Het
Phip	A	G	9: 82,758,769 (GRCm39)		probably benign	Het
Polr2b	A	G	5: 77,479,929 (GRCm39)	I561V	possibly damaging	Het
Ppp4r3c2	T	C	X: 88,796,299 (GRCm39)	S44P	probably damaging	Het
Prkg2	A	T	5: 99,142,514 (GRCm39)		probably null	Het
Prl8a6	T	C	13: 27,617,084 (GRCm39)	D201G	probably benign	Het
Ptk6	G	A	2: 180,844,320 (GRCm39)		probably benign	Het
Ptprn2	T	C	12: 117,175,466 (GRCm39)		probably benign	Het
Rdh1	G	T	10: 127,598,993 (GRCm39)	R158L	probably damaging	Het
Rhbdl3	T	C	11: 80,214,175 (GRCm39)		probably benign	Het
Rims4	A	T	2: 163,706,040 (GRCm39)	V198E	probably damaging	Het
Ripk1	T	C	13: 34,193,733 (GRCm39)	S32P	probably damaging	Het
Rnf13	T	A	3: 57,686,872 (GRCm39)	N88K	probably damaging	Het
Rnf13	C	A	3: 57,714,474 (GRCm39)	L178I	probably damaging	Het
Slc17a5	G	T	9: 78,445,584 (GRCm39)		probably null	Het
Sorcs1	A	G	19: 50,624,891 (GRCm39)		probably benign	Het
Spata31e3	T	A	13: 50,401,000 (GRCm39)	Q442L	probably benign	Het
Srpk1	G	A	17: 28,809,218 (GRCm39)		probably benign	Het
Stk10	A	G	11: 32,564,708 (GRCm39)	K840E	probably damaging	Het
Suco	A	G	1: 161,689,882 (GRCm39)		probably benign	Het
T2	G	A	17: 8,636,007 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,226,079 (GRCm39)	S255P	probably damaging	Het
Tenm1	T	C	X: 41,625,058 (GRCm39)	Y2254C	probably damaging	Het
Tex9	T	A	9: 72,385,678 (GRCm39)	K11*	probably null	Het
Tlr4	A	G	4: 66,746,153 (GRCm39)	I29V	probably benign	Het
Tmem255a	A	T	X: 37,288,523 (GRCm39)	V278D	probably damaging	Het
Trpc3	T	C	3: 36,678,566 (GRCm39)	I840V	probably benign	Het
Trpm3	G	A	19: 22,878,435 (GRCm39)	R622Q	possibly damaging	Het
Vmn1r214	T	A	13: 23,219,464 (GRCm39)	Y319*	probably null	Het
Vmn1r53	A	T	6: 90,200,700 (GRCm39)	V208E	probably damaging	Het
Vmn2r89	T	C	14: 51,693,577 (GRCm39)	F309S	probably damaging	Het
Xirp2	T	A	2: 67,340,253 (GRCm39)	F831L	possibly damaging	Het
Yes1	G	T	5: 32,797,749 (GRCm39)	E23*	probably null	Het
Zfp292	A	T	4: 34,810,059 (GRCm39)	M995K	probably benign	Het

Other mutations in Furin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00816:Furin	APN	7	80,042,315 (GRCm39)	missense	probably damaging	1.00
IGL00910:Furin	APN	7	80,040,744 (GRCm39)	missense	probably benign
IGL01701:Furin	APN	7	80,040,507 (GRCm39)	missense	probably benign	0.00
IGL01701:Furin	APN	7	80,042,240 (GRCm39)	missense	probably benign	0.11
IGL01921:Furin	APN	7	80,045,702 (GRCm39)	unclassified	probably benign
IGL01981:Furin	APN	7	80,042,647 (GRCm39)	missense	probably damaging	1.00
IGL02035:Furin	APN	7	80,040,735 (GRCm39)	missense	probably benign
IGL02096:Furin	APN	7	80,043,207 (GRCm39)	missense	probably damaging	1.00
IGL02508:Furin	APN	7	80,042,269 (GRCm39)	missense	probably benign	0.01
IGL02611:Furin	APN	7	80,041,526 (GRCm39)	missense	probably benign	0.04
R0359:Furin	UTSW	7	80,041,032 (GRCm39)	missense	probably damaging	1.00
R0554:Furin	UTSW	7	80,041,032 (GRCm39)	missense	probably damaging	1.00
R1346:Furin	UTSW	7	80,041,932 (GRCm39)	unclassified	probably benign
R1347:Furin	UTSW	7	80,041,932 (GRCm39)	unclassified	probably benign
R1373:Furin	UTSW	7	80,041,932 (GRCm39)	unclassified	probably benign
R1553:Furin	UTSW	7	80,048,340 (GRCm39)	splice site	probably null
R1693:Furin	UTSW	7	80,042,230 (GRCm39)	missense	probably damaging	1.00
R4524:Furin	UTSW	7	80,048,382 (GRCm39)	splice site	probably null
R4687:Furin	UTSW	7	80,043,195 (GRCm39)	missense	probably benign	0.00
R4869:Furin	UTSW	7	80,046,727 (GRCm39)	missense	probably damaging	1.00
R5249:Furin	UTSW	7	80,043,169 (GRCm39)	missense	probably damaging	1.00
R5498:Furin	UTSW	7	80,041,542 (GRCm39)	missense	probably damaging	1.00
R5708:Furin	UTSW	7	80,047,603 (GRCm39)	intron	probably benign
R6086:Furin	UTSW	7	80,045,179 (GRCm39)	missense	probably damaging	1.00
R6505:Furin	UTSW	7	80,043,365 (GRCm39)	missense	probably damaging	1.00
R6772:Furin	UTSW	7	80,043,240 (GRCm39)	missense	probably damaging	1.00
R6945:Furin	UTSW	7	80,040,838 (GRCm39)	missense	possibly damaging	0.82
R6954:Furin	UTSW	7	80,046,712 (GRCm39)	missense	possibly damaging	0.79
R7396:Furin	UTSW	7	80,047,862 (GRCm39)	missense	probably benign	0.00
R7510:Furin	UTSW	7	80,043,333 (GRCm39)	missense	probably damaging	1.00
R7542:Furin	UTSW	7	80,043,207 (GRCm39)	missense	probably damaging	1.00
R7577:Furin	UTSW	7	80,046,734 (GRCm39)	missense	probably damaging	1.00
R7812:Furin	UTSW	7	80,045,722 (GRCm39)	missense	possibly damaging	0.94
R7995:Furin	UTSW	7	80,045,195 (GRCm39)	missense	probably damaging	1.00
R8351:Furin	UTSW	7	80,048,470 (GRCm39)	missense	probably benign	0.00
R8389:Furin	UTSW	7	80,040,627 (GRCm39)	missense	probably benign	0.00
R8451:Furin	UTSW	7	80,048,470 (GRCm39)	missense	probably benign	0.00
R8691:Furin	UTSW	7	80,041,775 (GRCm39)	unclassified	probably benign
R8917:Furin	UTSW	7	80,048,437 (GRCm39)	missense	probably benign
R9282:Furin	UTSW	7	80,040,846 (GRCm39)	missense	probably benign	0.00
R9380:Furin	UTSW	7	80,041,506 (GRCm39)	missense	probably benign	0.00
R9786:Furin	UTSW	7	80,040,645 (GRCm39)	missense	probably benign	0.29
X0050:Furin	UTSW	7	80,045,160 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTACCCAAGGTCCACGCTACTC -3'
(R):5'- AGCATCGTCCTGTTGTACCTCATTG -3'

Sequencing Primer
(F):5'- AGAGCCTAATGTGGCCCTG -3'
(R):5'- GTTGTACCTCATTGCCCTCTAC -3'

Posted On

2013-05-23