Incidental Mutation 'R6954:Furin'
ID 541367
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 045066-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6954 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 80038942-80055188 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 80046712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 181 (D181E)
Ref Sequence ENSEMBL: ENSMUSP00000113370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107362] [ENSMUST00000120753] [ENSMUST00000122232] [ENSMUST00000135306] [ENSMUST00000147150]
AlphaFold P23188
Predicted Effect possibly damaging
Transcript: ENSMUST00000107362
AA Change: D181E

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102985
Gene: ENSMUSG00000030530
AA Change: D181E

DomainStartEndE-ValueType
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: D181E

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113793
Gene: ENSMUSG00000030530
AA Change: D181E

DomainStartEndE-ValueType
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: D181E

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113370
Gene: ENSMUSG00000030530
AA Change: D181E

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
SCOP:d1kn6a_ 30 59 1e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147150
Predicted Effect probably benign
Transcript: ENSMUST00000206352
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 98% (57/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik A T 7: 126,429,809 (GRCm39) probably null Het
Alox5 A C 6: 116,397,241 (GRCm39) Y314* probably null Het
Ap4e1 T C 2: 126,906,871 (GRCm39) S1044P probably benign Het
Ash2l A G 8: 26,312,796 (GRCm39) V391A possibly damaging Het
B4galnt4 A G 7: 140,647,145 (GRCm39) T326A probably benign Het
Ccm2 T A 11: 6,544,239 (GRCm39) I345N probably damaging Het
Cntnap3 G A 13: 64,896,373 (GRCm39) H1034Y probably benign Het
Cpsf1 A G 15: 76,483,696 (GRCm39) L849S probably damaging Het
Ctrb1 A G 8: 112,413,296 (GRCm39) S239P probably damaging Het
Dennd1b T A 1: 139,096,683 (GRCm39) probably benign Het
Dnah17 A G 11: 117,957,258 (GRCm39) I2773T probably damaging Het
Eif2b2 T A 12: 85,272,817 (GRCm39) F267L probably damaging Het
Fcrl2 A G 3: 87,170,983 (GRCm39) probably benign Het
Gm29106 T A 1: 118,128,317 (GRCm39) C670S probably damaging Het
Gm6309 A T 5: 146,105,300 (GRCm39) D204E possibly damaging Het
Hsf2 T A 10: 57,380,739 (GRCm39) I191N probably damaging Het
Hspa12a T C 19: 58,788,124 (GRCm39) D566G probably benign Het
Igf1 G C 10: 87,700,722 (GRCm39) V49L probably damaging Het
Igfbpl1 C T 4: 45,826,663 (GRCm39) C44Y probably damaging Het
Letm1 G A 5: 33,939,851 (GRCm39) R16C probably benign Het
Lypd8l T A 11: 58,499,314 (GRCm39) Y168F probably benign Het
Marf1 A G 16: 13,956,384 (GRCm39) V819A probably damaging Het
Mfsd4b4 A T 10: 39,767,948 (GRCm39) S428T probably benign Het
Myo1d T C 11: 80,565,783 (GRCm39) I347M probably benign Het
Myo9b A G 8: 71,743,463 (GRCm39) I175V probably damaging Het
Naip5 A T 13: 100,359,922 (GRCm39) V438E probably damaging Het
Nup205 T A 6: 35,185,044 (GRCm39) V768E possibly damaging Het
Or4k6 A T 14: 50,475,567 (GRCm39) Y258* probably null Het
Or9g4b T A 2: 85,616,726 (GRCm39) Y290* probably null Het
Pcdh15 C T 10: 74,481,821 (GRCm39) H1651Y possibly damaging Het
Pdgfra A T 5: 75,334,055 (GRCm39) Q376L possibly damaging Het
Pign T C 1: 105,481,622 (GRCm39) I791M probably benign Het
Pik3c2b T G 1: 132,994,041 (GRCm39) S2A possibly damaging Het
Pip5k1a A T 3: 94,975,558 (GRCm39) I304K probably damaging Het
Pkdrej A T 15: 85,702,054 (GRCm39) L1294* probably null Het
Pprc1 T C 19: 46,052,872 (GRCm39) S797P probably damaging Het
Prob1 A G 18: 35,787,321 (GRCm39) V311A probably benign Het
Prune2 C A 19: 16,977,385 (GRCm39) T40K probably damaging Het
Rif1 T G 2: 52,002,703 (GRCm39) D2052E probably benign Het
Sall1 A G 8: 89,759,519 (GRCm39) V195A probably damaging Het
Scfd1 T C 12: 51,474,729 (GRCm39) probably null Het
Sidt2 A T 9: 45,864,148 (GRCm39) N123K probably benign Het
Slc22a6 G A 19: 8,599,460 (GRCm39) A320T probably benign Het
Slc25a10 A G 11: 120,388,973 (GRCm39) H279R probably benign Het
Slc35b4 A G 6: 34,135,556 (GRCm39) V252A probably benign Het
Slc46a3 T C 5: 147,823,150 (GRCm39) T231A probably benign Het
Stxbp1 T A 2: 32,691,905 (GRCm39) H429L probably damaging Het
Tas2r134 C T 2: 51,517,782 (GRCm39) T87I probably benign Het
Tcstv6 A G 13: 120,307,666 (GRCm39) D20G possibly damaging Het
Tdpoz2 A T 3: 93,559,582 (GRCm39) L130H probably damaging Het
Tmem69 T C 4: 116,411,921 (GRCm39) probably null Het
Tmppe G A 9: 114,234,591 (GRCm39) V297I probably benign Het
Ung G T 5: 114,269,398 (GRCm39) A37S probably benign Het
Vdac1 T C 11: 52,277,200 (GRCm39) Y237H probably damaging Het
Vgll4 T C 6: 114,898,328 (GRCm39) Y11C probably damaging Het
Vmn1r24 A G 6: 57,933,437 (GRCm39) I27T probably benign Het
Zfp280b T A 10: 75,875,522 (GRCm39) M467K probably benign Het
Zkscan4 A G 13: 21,668,535 (GRCm39) I329V probably damaging Het
Other mutations in Furin
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ACTTCAGCTGTGTAGTTTTACTGTT -3'
(R):5'- GCAGGCAATTATGTAAGGGC -3'

Sequencing Primer
(F):5'- TCCCTCCAAGTGCTGGGATTAAAG -3'
(R):5'- TTATGTAAGGGCTGGAAAAGAGTG -3'
Posted On 2018-11-28