Mutagenetix > Incidental Mutation

Incidental Mutation 'R9380:Furin'

709936

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9380 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80038942-80055188 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80041506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 551 (I551V)

Ref Sequence

ENSEMBL: ENSMUSP00000113370 (fasta)

Gene Model

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

AlphaFold

P23188

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

probably benign
Transcript: ENSMUST00000107362
AA Change: I551V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102985
Gene: ENSMUSG00000030530
AA Change: I551V

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: I551V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113793
Gene: ENSMUSG00000030530
AA Change: I551V

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: I551V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113370
Gene: ENSMUSG00000030530
AA Change: I551V

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: 99.7%
20x: 98.8%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	T	G	1: 78,659,602 (GRCm39)	C85G	possibly damaging	Het
Alox12e	A	T	11: 70,206,994 (GRCm39)		probably null	Het
Aoc1l2	T	C	6: 48,910,064 (GRCm39)	I667T	probably damaging	Het
Asb10	A	C	5: 24,739,103 (GRCm39)		probably null	Het
B3galt9	G	A	2: 34,729,029 (GRCm39)	C276Y	probably damaging	Het
Bcl2a1d	G	A	9: 88,613,935 (GRCm39)		probably benign	Het
Camsap3	A	T	8: 3,653,999 (GRCm39)	K556N	probably benign	Het
Cd300lf	T	A	11: 115,015,153 (GRCm39)	T146S	probably benign	Het
Chuk	C	A	19: 44,062,958 (GRCm39)	A744S	unknown	Het
Clint1	A	T	11: 45,742,988 (GRCm39)	M4L	probably benign	Het
Cnot4	T	C	6: 35,029,865 (GRCm39)	I344M	possibly damaging	Het
Cpne1	T	C	2: 155,920,721 (GRCm39)	D135G	probably benign	Het
Csgalnact2	C	A	6: 118,105,840 (GRCm39)	L159F	probably damaging	Het
Dnai2	T	C	11: 114,635,989 (GRCm39)	F325L	probably benign	Het
Dnal4	G	A	15: 79,647,790 (GRCm39)	S25L	possibly damaging	Het
Ep300	T	C	15: 81,500,245 (GRCm39)	M515T	unknown	Het
Ewsr1	T	C	11: 5,043,730 (GRCm39)	Y18C	possibly damaging	Het
Fam25a	T	C	14: 34,073,957 (GRCm39)	T72A	possibly damaging	Het
Flii	T	C	11: 60,606,297 (GRCm39)	Y1131C	probably benign	Het
Foxj1	C	T	11: 116,222,547 (GRCm39)	A419T	possibly damaging	Het
Fsd1l	A	G	4: 53,693,991 (GRCm39)	T323A	possibly damaging	Het
Gbp11	A	G	5: 105,475,202 (GRCm39)	V382A	probably benign	Het
Gfod1	A	C	13: 43,354,320 (GRCm39)	D218E	probably damaging	Het
Glp2r	A	T	11: 67,637,572 (GRCm39)	I153N	possibly damaging	Het
Gm11214	G	T	4: 63,580,850 (GRCm39)	P100T	possibly damaging	Het
Gne	A	T	4: 44,066,807 (GRCm39)	F69I	probably benign	Het
Hsd3b2	T	C	3: 98,619,453 (GRCm39)	K164R	probably damaging	Het
Hspa1b	T	C	17: 35,177,170 (GRCm39)	R272G	probably damaging	Het
Hydin	C	A	8: 111,290,504 (GRCm39)	T3321N	probably benign	Het
Impg1	A	T	9: 80,289,077 (GRCm39)	S327T	probably benign	Het
Izumo2	T	C	7: 44,364,812 (GRCm39)	V159A	probably benign	Het
Kat6b	T	C	14: 21,678,926 (GRCm39)	S430P	probably damaging	Het
Kcnj9	T	A	1: 172,153,447 (GRCm39)	T226S	probably benign	Het
Kl	T	A	5: 150,912,342 (GRCm39)	M697K	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrrk1	G	A	7: 65,928,331 (GRCm39)	P1266S	probably damaging	Het
Med13	A	T	11: 86,177,598 (GRCm39)	N1499K	probably benign	Het
Mybbp1a	A	G	11: 72,333,668 (GRCm39)	I182V	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nin	A	G	12: 70,074,805 (GRCm39)	L1859P		Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Or2y10	A	G	11: 49,454,904 (GRCm39)	D52G	possibly damaging	Het
Or4a67	A	T	2: 88,598,530 (GRCm39)	I43N	probably damaging	Het
Or4k1	C	A	14: 50,377,770 (GRCm39)	G109W	probably damaging	Het
Or8b50	A	G	9: 38,518,415 (GRCm39)	Y218C	probably damaging	Het
Osbpl8	T	A	10: 111,108,980 (GRCm39)	S421T	probably damaging	Het
Paqr7	A	G	4: 134,234,350 (GRCm39)	N69S	probably damaging	Het
Pcare	A	T	17: 72,056,351 (GRCm39)	S1109T	possibly damaging	Het
Pdgfrb	G	A	18: 61,197,920 (GRCm39)	G231D	probably damaging	Het
Pip5k1b	A	G	19: 24,356,417 (GRCm39)	Y174H	probably damaging	Het
Pkd1	T	A	17: 24,769,262 (GRCm39)	L9Q	unknown	Het
Psmg4	A	T	13: 34,350,080 (GRCm39)	T71S	probably benign	Het
Ptpn23	A	G	9: 110,221,581 (GRCm39)	I173T	possibly damaging	Het
Qser1	G	A	2: 104,619,691 (GRCm39)	Q284*	probably null	Het
Rcc2	G	T	4: 140,429,702 (GRCm39)	A79S	probably benign	Het
Rgl3	G	T	9: 21,888,123 (GRCm39)	Q464K	probably damaging	Het
Rhov	C	A	2: 119,100,604 (GRCm39)	R211L	probably benign	Het
Rp1l1	A	G	14: 64,266,475 (GRCm39)	D687G	probably benign	Het
Selenbp2	A	G	3: 94,609,654 (GRCm39)	I291V	probably benign	Het
Sh3glb2	A	T	2: 30,238,625 (GRCm39)	V189E	probably damaging	Het
Slc46a2	A	G	4: 59,913,867 (GRCm39)	I352T	probably damaging	Het
Sucla2	T	A	14: 73,828,312 (GRCm39)	N306K	probably benign	Het
Suco	A	G	1: 161,646,074 (GRCm39)	V1209A	possibly damaging	Het
Tacc2	T	A	7: 130,226,771 (GRCm39)	L1152Q	possibly damaging	Het
Tanc1	A	T	2: 59,665,796 (GRCm39)	K1185M	probably damaging	Het
Tas2r114	A	G	6: 131,666,381 (GRCm39)	F216L	probably benign	Het
Tead1	A	T	7: 112,441,105 (GRCm39)	H78L	possibly damaging	Het
Tex12	T	C	9: 50,469,586 (GRCm39)	I64V	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Trank1	A	G	9: 111,221,738 (GRCm39)	E2825G	probably benign	Het
Trappc13	T	A	13: 104,280,707 (GRCm39)	Y399F	probably damaging	Het
Trim21	T	C	7: 102,212,992 (GRCm39)	D102G	probably damaging	Het
Trim27	G	T	13: 21,364,680 (GRCm39)	V6L	probably benign	Het
Trim55	A	G	3: 19,728,559 (GRCm39)	T457A	probably benign	Het
Trrap	A	G	5: 144,769,981 (GRCm39)	E2716G	probably benign	Het
Usp10	T	G	8: 120,682,943 (GRCm39)	L712R	probably damaging	Het
Vldlr	T	A	19: 27,216,192 (GRCm39)	C338S	possibly damaging	Het
Zfp946	A	G	17: 22,673,680 (GRCm39)	I145V	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
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
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
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'- TGTGCCATACAGAACGAGAG -3'
(R):5'- CAGCTGCCCTTAGAAGCATTTC -3'

Sequencing Primer
(F):5'- AGAGTGAACTTGGTCAGCGTCC -3'
(R):5'- AGCATTTCCAGTCTAGCAGG -3'

Posted On

2022-04-18