Mutagenetix > Incidental Mutation

Incidental Mutation 'R4687:Furin'

353759

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

041938-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80388585-80405436 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80393447 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 339 (T339S)

Ref Sequence

ENSEMBL: ENSMUSP00000113370 (fasta)

Gene Model

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

AlphaFold

P23188

Predicted Effect

probably benign
Transcript: ENSMUST00000107362
AA Change: T339S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000102985
Gene: ENSMUSG00000030530
AA Change: T339S

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: ENSMUST00000120753
AA Change: T339S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000113793
Gene: ENSMUSG00000030530
AA Change: T339S

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 benign
Transcript: ENSMUST00000122232
AA Change: T339S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000113370
Gene: ENSMUSG00000030530
AA Change: T339S

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 8,992,153	Y45N	probably damaging	Het
Agbl3	T	C	6: 34,798,326	V189A	probably damaging	Het
Akip1	C	A	7: 109,704,986	S90*	probably null	Het
Amn	A	T	12: 111,276,068	D439V	probably benign	Het
Arhgap17	T	A	7: 123,321,603	D149V	probably damaging	Het
Atp6v0a4	A	T	6: 38,092,465	I76N	possibly damaging	Het
Atp6v1h	A	T	1: 5,133,085	N291I	probably damaging	Het
Baiap2l2	G	T	15: 79,259,253	P462T	probably damaging	Het
Bves	C	T	10: 45,354,840		probably null	Het
Cabp7	T	A	11: 4,739,265	K127*	probably null	Het
Cacna1h	A	G	17: 25,393,910	V313A	possibly damaging	Het
Camkk2	T	C	5: 122,753,724	H245R	probably damaging	Het
Celsr1	T	A	15: 85,932,460	S1761C	possibly damaging	Het
Cfap46	T	C	7: 139,627,456	E1849G	possibly damaging	Het
Ciz1	T	C	2: 32,367,465	L174P	probably damaging	Het
Crim1	G	T	17: 78,303,025	C303F	probably damaging	Het
Cyp26c1	A	G	19: 37,692,937	Q396R	probably damaging	Het
Dnajc7	G	A	11: 100,599,300	P43L	probably damaging	Het
Dpf2	T	C	19: 5,907,012	H16R	probably damaging	Het
Dsp	A	G	13: 38,191,619	T1127A	probably damaging	Het
Dst	T	C	1: 34,201,123	L1525P	probably damaging	Het
Ehf	T	A	2: 103,267,126	D192V	probably damaging	Het
Frem1	G	T	4: 83,020,631	N71K	probably damaging	Het
Gad1	T	A	2: 70,600,720	I569N	possibly damaging	Het
Gfi1	T	C	5: 107,723,810	K10R	probably damaging	Het
Gm20775	T	A	Y: 10,641,258		noncoding transcript	Homo
Gpn3	A	C	5: 122,378,575	D89A	possibly damaging	Het
Gpr18	T	A	14: 121,911,678	R312*	probably null	Het
Gsap	T	C	5: 21,246,971		probably benign	Het
H2-Ab1	C	A	17: 34,264,809	T48K	probably damaging	Het
Hmcn2	A	T	2: 31,438,285	N4326I	probably benign	Het
Igkv4-51	A	C	6: 69,681,730		probably benign	Het
Insr	T	C	8: 3,161,709	H1104R	probably benign	Het
Ipo13	A	T	4: 117,901,576	N697K	probably benign	Het
Iqcm	T	G	8: 75,762,989	F362V	probably damaging	Het
Irak4	T	C	15: 94,566,823	S425P	probably damaging	Het
Jakmip2	T	C	18: 43,577,412	E242G	possibly damaging	Het
Kdm4a	T	C	4: 118,144,083	K829R	probably damaging	Het
Kdr	T	C	5: 75,968,792	N145S	possibly damaging	Het
Klra9	A	T	6: 130,185,517	D185E	probably benign	Het
Lcn12	T	C	2: 25,493,321	N15S	probably benign	Het
Mei4	T	A	9: 81,927,317	M151K	probably damaging	Het
Mmp3	T	A	9: 7,451,223	S320T	probably benign	Het
Mrps5	C	G	2: 127,590,770	A37G	probably benign	Het
Mttp	A	G	3: 138,092,735	I800T	possibly damaging	Het
Nags	A	T	11: 102,148,196	Q451L	probably damaging	Het
Nbea	T	C	3: 56,058,065	T476A	probably damaging	Het
Ndufb10	T	C	17: 24,722,419	E145G	possibly damaging	Het
Neb	T	G	2: 52,304,035	S660R	possibly damaging	Het
Nppb	A	G	4: 147,986,296	K43E	probably benign	Het
Nup188	A	T	2: 30,330,633	Q906L	probably benign	Het
Olfr1259	T	C	2: 89,943,869	D82G	probably damaging	Het
Olfr1413	T	C	1: 92,573,330	I53T	possibly damaging	Het
Olfr370	T	A	8: 83,541,860	S239T	probably damaging	Het
Olfr895	C	A	9: 38,269,414	N292K	probably damaging	Het
Ovch2	T	A	7: 107,796,548	I88F	possibly damaging	Het
Palm3	A	G	8: 84,029,935	E692G	probably benign	Het
Pcsk6	T	C	7: 65,983,753	F578L	probably damaging	Het
Piezo2	A	C	18: 63,069,963	D1535E	probably damaging	Het
Ppp1r15b	T	C	1: 133,132,135	V130A	probably benign	Het
Proca1	T	C	11: 78,204,898	Y32H	probably damaging	Het
Prtg	T	A	9: 72,890,798	V682E	probably damaging	Het
Pyroxd1	A	T	6: 142,361,868	M455L	probably benign	Het
Rasa1	T	C	13: 85,226,635	D739G	possibly damaging	Het
Scn3a	T	C	2: 65,464,730	I1550V	possibly damaging	Het
Sepsecs	T	C	5: 52,643,871	D483G	probably benign	Het
Setd7	T	C	3: 51,550,355	D17G	probably damaging	Het
Sipa1l2	C	T	8: 125,491,245	C451Y	probably damaging	Het
Slc31a1	A	G	4: 62,388,702	Y165C	probably damaging	Het
Smg5	T	C	3: 88,342,469	F68L	possibly damaging	Het
Sptbn5	A	G	2: 120,077,208		probably benign	Het
Stk3	A	G	15: 35,114,565	I65T	probably damaging	Het
Tas2r115	C	T	6: 132,737,284	A235T	possibly damaging	Het
Tenm2	C	T	11: 36,049,097	A1400T	probably benign	Het
Tet1	T	A	10: 62,838,791	N1169Y	probably benign	Het
Treml2	T	A	17: 48,309,397		probably null	Het
Tspan11	A	G	6: 127,938,235	E104G	probably damaging	Het
Wdtc1	G	A	4: 133,296,431	A543V	probably damaging	Het
Zfp148	T	A	16: 33,496,819	D578E	probably damaging	Het
Zfp735	A	T	11: 73,711,855	N542Y	probably damaging	Het
Zfp735	A	T	11: 73,711,856	N542I	probably damaging	Het
Zfp869	T	A	8: 69,708,143	E65D	probably benign	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	80390759	missense	probably benign	0.00
IGL01701:Furin	APN	7	80392492	missense	probably benign	0.11
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
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
R6945:Furin	UTSW	7	80391090	missense	possibly damaging	0.82
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
R8691:Furin	UTSW	7	80392027	unclassified	probably benign
R8917:Furin	UTSW	7	80398689	missense	probably benign
R9282:Furin	UTSW	7	80391098	missense	probably benign	0.00
R9380:Furin	UTSW	7	80391758	missense	probably benign	0.00
R9786:Furin	UTSW	7	80390897	missense	probably benign	0.29
X0050:Furin	UTSW	7	80395412	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGATGGTTTTGCAGCCCG -3'
(R):5'- TAGCCCACTTCGTTCACAGG -3'

Sequencing Primer
(F):5'- AAGGGTCTGGGGAATCTCC -3'
(R):5'- ACTTCGTTCACAGGGCCGAG -3'

Posted On

2015-10-21