Mutagenetix > Incidental Mutation

Incidental Mutation 'R4869:Furin'

376407

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

042479-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4869 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80038942-80055188 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80046727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 176 (N176K)

Ref Sequence

ENSEMBL: ENSMUSP00000113370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107362] [ENSMUST00000120753] [ENSMUST00000122232] [ENSMUST00000135306] [ENSMUST00000147150]

AlphaFold

P23188

Predicted Effect

probably damaging
Transcript: ENSMUST00000107362
AA Change: N176K

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

SMART Domains

Protein: ENSMUSP00000102985
Gene: ENSMUSG00000030530
AA Change: N176K

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: N176K

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

SMART Domains

Protein: ENSMUSP00000113793
Gene: ENSMUSG00000030530
AA Change: N176K

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: N176K

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

SMART Domains

Protein: ENSMUSP00000113370
Gene: ENSMUSG00000030530
AA Change: N176K

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: ENSMUST00000135306

SMART Domains

Protein: ENSMUSP00000116734
Gene: ENSMUSG00000030530

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
SCOP:d1kn6a_	30	59	1e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146771

Predicted Effect

probably benign
Transcript: ENSMUST00000147150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153446

Predicted Effect

probably benign
Transcript: ENSMUST00000206352

Meta Mutation Damage Score

0.8711

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (102/103)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,161,488 (GRCm39)	K943N	probably damaging	Het
Abca13	G	A	11: 9,265,434 (GRCm39)		probably null	Het
Ankub1	A	G	3: 57,597,751 (GRCm39)	L73P	probably damaging	Het
Birc6	A	G	17: 74,893,007 (GRCm39)	I982V	probably benign	Het
Cabyr	G	T	18: 12,884,875 (GRCm39)	*454L	probably null	Het
Ccdc57	C	T	11: 120,794,344 (GRCm39)		probably null	Het
Cd209c	A	G	8: 3,994,077 (GRCm39)	F128L	probably benign	Het
Cdh23	A	T	10: 60,212,713 (GRCm39)	I1566N	probably damaging	Het
Cdon	T	C	9: 35,364,200 (GRCm39)	V106A	possibly damaging	Het
Cebpa	G	T	7: 34,819,246 (GRCm39)	G135C	probably damaging	Het
Cfap65	A	G	1: 74,958,420 (GRCm39)	S896P	probably benign	Het
Ciz1	T	C	2: 32,254,247 (GRCm39)	S63P	probably damaging	Het
Clybl	G	A	14: 122,621,618 (GRCm39)	V269M	probably damaging	Het
Ctnnb1	G	T	9: 120,782,060 (GRCm39)	V358L	possibly damaging	Het
Cwh43	G	T	5: 73,586,016 (GRCm39)		probably null	Het
Cyp2d10	G	A	15: 82,287,967 (GRCm39)	R379C	probably benign	Het
Dab2ip	C	A	2: 35,610,049 (GRCm39)	R727S	probably damaging	Het
Dmrt1	T	A	19: 25,483,219 (GRCm39)	M1K	probably null	Het
Dock1	A	T	7: 134,335,800 (GRCm39)	I65F	probably damaging	Het
Ercc2	T	C	7: 19,120,732 (GRCm39)	V155A	probably damaging	Het
Exph5	A	C	9: 53,287,539 (GRCm39)	D1540A	possibly damaging	Het
Fat3	T	A	9: 16,288,773 (GRCm39)	H250L	probably damaging	Het
Fbxw10	C	A	11: 62,753,557 (GRCm39)	A517E	probably damaging	Het
Gabrb3	A	G	7: 57,442,207 (GRCm39)		probably benign	Het
Gabrg2	A	T	11: 41,811,231 (GRCm39)	S305T	probably damaging	Het
Gas6	G	T	8: 13,525,086 (GRCm39)	S299R	possibly damaging	Het
Gga3	G	T	11: 115,477,111 (GRCm39)		probably benign	Het
Gle1	A	G	2: 29,826,032 (GRCm39)	E37G	possibly damaging	Het
Gm7964	A	G	7: 83,405,350 (GRCm39)	D80G	possibly damaging	Het
Gne	C	T	4: 44,055,204 (GRCm39)		probably null	Het
Grid2	G	T	6: 64,406,724 (GRCm39)	G695W	probably damaging	Het
H2-M10.6	A	T	17: 37,123,425 (GRCm39)	M40L	probably benign	Het
Hectd4	G	T	5: 121,460,735 (GRCm39)	V905L	possibly damaging	Het
Isyna1	C	A	8: 71,049,412 (GRCm39)	S441R	possibly damaging	Het
Kcnh3	C	T	15: 99,139,913 (GRCm39)	S933L	probably benign	Het
Knl1	T	C	2: 118,902,832 (GRCm39)	I1511T	possibly damaging	Het
Krt73	T	C	15: 101,704,833 (GRCm39)	E351G	probably damaging	Het
Lipo4	C	T	19: 33,478,953 (GRCm39)		probably null	Het
Llgl1	T	A	11: 60,598,036 (GRCm39)	L360*	probably null	Het
Map2k5	G	A	9: 63,229,525 (GRCm39)	R169*	probably null	Het
Muc19	A	T	15: 91,781,910 (GRCm39)		noncoding transcript	Het
Muc4	G	A	16: 32,754,836 (GRCm38)		probably benign	Het
Myh4	A	G	11: 67,143,490 (GRCm39)	E1074G	probably damaging	Het
Naip5	C	T	13: 100,381,639 (GRCm39)	G210E	probably damaging	Het
Nalcn	A	G	14: 123,837,296 (GRCm39)	S23P	probably benign	Het
Nepro	T	A	16: 44,550,536 (GRCm39)	M176K	probably damaging	Het
Nlrp6	G	A	7: 140,504,006 (GRCm39)	C704Y	probably damaging	Het
Notch1	A	G	2: 26,361,191 (GRCm39)	S1100P	probably benign	Het
Nrxn3	A	G	12: 88,762,352 (GRCm39)	E133G	possibly damaging	Het
Obi1	A	G	14: 104,716,252 (GRCm39)	I707T	probably damaging	Het
Parp9	T	C	16: 35,777,274 (GRCm39)	L406S	probably damaging	Het
Peak1	G	T	9: 56,134,876 (GRCm39)	A155D	probably benign	Het
Piezo1	G	A	8: 123,214,284 (GRCm39)	H1628Y	probably benign	Het
Piwil2	A	G	14: 70,632,811 (GRCm39)	V587A	probably benign	Het
Pkn2	A	G	3: 142,509,379 (GRCm39)	Y722H	probably damaging	Het
Plch2	A	T	4: 155,073,885 (GRCm39)	I834K	probably benign	Het
Pld1	A	G	3: 28,163,951 (GRCm39)	T795A	possibly damaging	Het
Plekhh1	A	G	12: 79,097,160 (GRCm39)	S103G	probably benign	Het
Ppl	T	C	16: 4,922,753 (GRCm39)	Y246C	probably damaging	Het
Prpf40b	G	A	15: 99,207,726 (GRCm39)		probably benign	Het
Prr14l	A	G	5: 32,986,177 (GRCm39)	L1106P	probably damaging	Het
Ptbp3	T	A	4: 59,524,443 (GRCm39)	I28F	possibly damaging	Het
Ptrh2	A	T	11: 86,580,631 (GRCm39)	K83*	probably null	Het
Rai1	T	C	11: 60,077,588 (GRCm39)	S551P	probably damaging	Het
Rapgefl1	A	T	11: 98,741,935 (GRCm39)	Q633L	probably damaging	Het
Rb1cc1	T	C	1: 6,285,245 (GRCm39)		probably benign	Het
Rif1	T	A	2: 51,983,623 (GRCm39)		probably benign	Het
Rnf141	A	G	7: 110,424,557 (GRCm39)	Y101H	probably damaging	Het
Rttn	T	A	18: 89,061,138 (GRCm39)	L1102*	probably null	Het
Sall4	G	A	2: 168,597,637 (GRCm39)	S401F	probably damaging	Het
Saxo5	G	A	8: 3,537,148 (GRCm39)	S498N	probably damaging	Het
Sec11c	T	C	18: 65,934,541 (GRCm39)	I36T	probably benign	Het
Sel1l	A	G	12: 91,780,828 (GRCm39)		probably benign	Het
Setd1a	T	C	7: 127,396,776 (GRCm39)		probably benign	Het
Sez6l2	C	T	7: 126,561,014 (GRCm39)	P433L	probably benign	Het
Sgf29	T	C	7: 126,248,547 (GRCm39)		probably benign	Het
Slc47a1	A	G	11: 61,253,520 (GRCm39)	V305A	probably benign	Het
Slco1a8	T	C	6: 141,933,492 (GRCm39)	D431G	probably damaging	Het
Sun2	T	C	15: 79,612,587 (GRCm39)		probably benign	Het
Tecta	T	C	9: 42,286,830 (GRCm39)	S609G	probably benign	Het
Tmprss6	T	A	15: 78,327,880 (GRCm39)		probably null	Het
Tns1	T	C	1: 73,991,774 (GRCm39)	H968R	probably benign	Het
Tomm34	G	A	2: 163,896,637 (GRCm39)	A270V	probably damaging	Het
Tpo	T	C	12: 30,153,364 (GRCm39)	K330R	probably benign	Het
Ttn	T	A	2: 76,542,837 (GRCm39)	Y33383F	probably damaging	Het
Unc13c	G	T	9: 73,587,716 (GRCm39)	A1439D	probably benign	Het
Vcp	C	T	4: 42,993,691 (GRCm39)	R147H	probably benign	Het
Vps13d	A	G	4: 144,854,612 (GRCm39)	L2272P	probably damaging	Het
Wdfy3	A	G	5: 102,042,787 (GRCm39)	L1988P	probably damaging	Het
Wwc2	A	G	8: 48,373,713 (GRCm39)	F51S	probably damaging	Het
Zfp454	C	T	11: 50,763,980 (GRCm39)	C373Y	probably damaging	Het
Zfp853	A	T	5: 143,274,048 (GRCm39)	V473E	probably damaging	Het
Zfp959	A	T	17: 56,204,228 (GRCm39)	R85S	possibly damaging	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
R0481:Furin	UTSW	7	80,043,297 (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
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'- AGACTTCAGCTGTGTAGTTTTACTGT -3'
(R):5'- TCATCCCGACCTAGCAGG -3'

Sequencing Primer
(F):5'- TCCCTCCAAGTGCTGGGATTAAAG -3'
(R):5'- CCGACCTAGCAGGCAATTATGTAAG -3'

Posted On

2016-03-17