Incidental Mutation 'R1347:Furin'
ID 186166
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 039412-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1347 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 80038942-80055188 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 80041932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080932] [ENSMUST00000107362] [ENSMUST00000120753] [ENSMUST00000122232] [ENSMUST00000206479] [ENSMUST00000206744] [ENSMUST00000205617] [ENSMUST00000206698] [ENSMUST00000206728] [ENSMUST00000206539]
AlphaFold P23188
Predicted Effect probably benign
Transcript: ENSMUST00000080932
SMART Domains Protein: ENSMUSP00000079733
Gene: ENSMUSG00000053158

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000102985
Gene: ENSMUSG00000030530

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: ENSMUST00000120753
SMART Domains Protein: ENSMUSP00000113793
Gene: ENSMUSG00000030530

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 probably benign
Transcript: ENSMUST00000122232
SMART Domains Protein: ENSMUSP00000113370
Gene: ENSMUSG00000030530

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 noncoding transcript
Transcript: ENSMUST00000146771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153446
Predicted Effect probably benign
Transcript: ENSMUST00000206479
Predicted Effect probably benign
Transcript: ENSMUST00000206744
Predicted Effect probably benign
Transcript: ENSMUST00000205617
Predicted Effect probably benign
Transcript: ENSMUST00000206698
Predicted Effect probably benign
Transcript: ENSMUST00000206352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206271
Predicted Effect probably benign
Transcript: ENSMUST00000206728
Predicted Effect probably benign
Transcript: ENSMUST00000206539
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak5 G T 3: 152,239,071 (GRCm39) D301E probably damaging Het
Arpc1a G T 5: 145,034,082 (GRCm39) W150L probably damaging Het
Filip1l A G 16: 57,391,350 (GRCm39) D646G probably damaging Het
Foxa1 A T 12: 57,589,070 (GRCm39) H383Q probably damaging Het
Fpr-rs6 T C 17: 20,403,011 (GRCm39) T117A probably benign Het
Fry A T 5: 150,419,283 (GRCm39) E905V probably damaging Het
Glyr1 T C 16: 4,839,203 (GRCm39) D338G probably damaging Het
Gpd2 A T 2: 57,247,683 (GRCm39) K542M probably damaging Het
Itpr3 T C 17: 27,330,535 (GRCm39) F1679L probably benign Het
Kif23 A G 9: 61,834,438 (GRCm39) M427T probably damaging Het
Kpna1 T A 16: 35,829,696 (GRCm39) I83N probably benign Het
Man2a1 T C 17: 65,019,445 (GRCm39) F770L probably damaging Het
Mrpl44 T A 1: 79,755,669 (GRCm39) F92I probably damaging Het
Myh4 A G 11: 67,135,567 (GRCm39) probably benign Het
Or2a56 A C 6: 42,932,639 (GRCm39) D69A probably damaging Het
Or5b105 T C 19: 13,080,054 (GRCm39) I199V probably benign Het
Rbm15 G T 3: 107,239,946 (GRCm39) R151S possibly damaging Het
Rims3 G A 4: 120,740,322 (GRCm39) G90S probably damaging Het
Rock2 G A 12: 17,027,625 (GRCm39) C1314Y possibly damaging Het
Serpinb6e C T 13: 34,025,180 (GRCm39) C37Y possibly damaging Het
Spata31d1c C T 13: 65,183,202 (GRCm39) T248I probably benign Het
Tbx15 C A 3: 99,259,427 (GRCm39) Q433K possibly damaging Het
Vmn1r11 G A 6: 57,114,963 (GRCm39) C209Y probably benign Het
Zfhx3 T C 8: 109,527,330 (GRCm39) probably benign Het
Zim1 C A 7: 6,680,430 (GRCm39) C411F 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
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'- GGGACACTTTTCACAAGGGACACAC -3'
(R):5'- CAAGTAAAGACTGGACCCTGAGCG -3'

Sequencing Primer
(F):5'- TCACAAGGGACACACACAGC -3'
(R):5'- TGACTCACGGTGCTTGC -3'
Posted On 2014-05-09