Incidental Mutation 'R8254:Fndc5'
ID 640638
Institutional Source Beutler Lab
Gene Symbol Fndc5
Ensembl Gene ENSMUSG00000001334
Gene Name fibronectin type III domain containing 5
Synonyms Pxp, 1500001L03Rik, PeP
MMRRC Submission 067680-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R8254 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 129030792-129038386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129032514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 39 (V39A)
Ref Sequence ENSEMBL: ENSMUSP00000099660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102600]
AlphaFold Q8K4Z2
Predicted Effect possibly damaging
Transcript: ENSMUST00000102600
AA Change: V39A

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099660
Gene: ENSMUSG00000001334
AA Change: V39A

DomainStartEndE-ValueType
FN3 31 111 7.34e-9 SMART
Pfam:DUF4808 146 204 4.7e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: This gene encodes a type I transmembrane protein containing fibronectin type III repeat. The encoded transmembrane protein undergoes proteolytic processing to generate a soluble hormone named irisin that is secreted into the bloodstream. The expression of this gene followed by the secretion of irisin from skeletal muscle is induced by exercise. The ectopic expression of the encoded protein in mice causes an elevation of irisin in blood and improves metabolic health. [provided by RefSeq, Jul 2016]
Allele List at MGI

All alleles(1) : Gene trapped(1)
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 T C 4: 144,182,760 (GRCm39) Y236C probably benign Het
Arhgef2 T C 3: 88,549,910 (GRCm39) L655P probably damaging Het
Brsk2 T C 7: 141,538,153 (GRCm39) S100P probably damaging Het
Calb1 A G 4: 15,898,926 (GRCm39) T141A probably benign Het
Cog6 T C 3: 52,900,938 (GRCm39) T447A probably benign Het
Cyp4f13 A T 17: 33,148,907 (GRCm39) N279K probably benign Het
Dnah11 T C 12: 117,842,259 (GRCm39) D4440G possibly damaging Het
Dspp A T 5: 104,323,194 (GRCm39) E112D possibly damaging Het
Fam3c T A 6: 22,328,675 (GRCm39) T71S possibly damaging Het
Fcgbpl1 T C 7: 27,846,774 (GRCm39) V1119A possibly damaging Het
Fdxr C A 11: 115,162,144 (GRCm39) G188W probably damaging Het
Gm14226 T C 2: 154,866,646 (GRCm39) I201T possibly damaging Het
Grip1 C T 10: 119,890,810 (GRCm39) Q950* probably null Het
Haspin A T 11: 73,027,572 (GRCm39) Y506N probably benign Het
Itga2b C A 11: 102,358,212 (GRCm39) R171L probably benign Het
Kctd2 C T 11: 115,311,174 (GRCm39) P61S unknown Het
Kirrel2 A G 7: 30,149,801 (GRCm39) probably null Het
Ldc1 C A 4: 130,114,136 (GRCm39) A94S probably benign Het
Lmx1b A G 2: 33,455,126 (GRCm39) F310S Het
Map4k4 A T 1: 40,045,835 (GRCm39) I574F probably damaging Het
Nrip1 T C 16: 76,088,287 (GRCm39) K1090R probably benign Het
Ntrk3 T C 7: 77,842,326 (GRCm39) Y820C probably damaging Het
Or5ac25 T A 16: 59,182,534 (GRCm39) I16L probably benign Het
Or5b96 T C 19: 12,867,849 (GRCm39) T31A probably benign Het
Pcdhb11 T C 18: 37,555,242 (GRCm39) Y191H probably benign Het
Pgm5 T C 19: 24,705,089 (GRCm39) K475E probably benign Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Psd4 A T 2: 24,293,223 (GRCm39) D696V probably damaging Het
Rere T C 4: 150,697,129 (GRCm39) F556L unknown Het
Sema4f A T 6: 82,894,382 (GRCm39) C528S probably damaging Het
Sorcs2 A G 5: 36,195,550 (GRCm39) S680P probably benign Het
Sv2c T C 13: 96,225,073 (GRCm39) T79A probably damaging Het
Tars3 A G 7: 65,325,809 (GRCm39) N461S probably benign Het
Thada T C 17: 84,533,468 (GRCm39) N1661S probably benign Het
Tubd1 A T 11: 86,440,264 (GRCm39) Q96L probably damaging Het
Vmn2r72 T C 7: 85,400,227 (GRCm39) D274G probably damaging Het
Vps13d A T 4: 144,709,882 (GRCm39) probably benign Het
Vwce C A 19: 10,627,938 (GRCm39) S466Y probably damaging Het
Wdr11 T C 7: 129,236,560 (GRCm39) I1178T probably benign Het
Zfp568 A T 7: 29,714,558 (GRCm39) H145L probably benign Het
Zfp606 T C 7: 12,226,788 (GRCm39) I303T possibly damaging Het
Zfp846 A G 9: 20,504,587 (GRCm39) D149G probably benign Het
Other mutations in Fndc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02656:Fndc5 APN 4 129,033,239 (GRCm39) missense probably damaging 1.00
IGL03336:Fndc5 APN 4 129,033,711 (GRCm39) missense probably benign 0.00
N/A - 287:Fndc5 UTSW 4 129,033,142 (GRCm39) missense probably damaging 1.00
R0645:Fndc5 UTSW 4 129,033,630 (GRCm39) splice site probably benign
R1202:Fndc5 UTSW 4 129,033,238 (GRCm39) missense probably damaging 0.97
R3962:Fndc5 UTSW 4 129,033,688 (GRCm39) missense probably benign 0.23
R4408:Fndc5 UTSW 4 129,036,322 (GRCm39) splice site probably null
R5379:Fndc5 UTSW 4 129,035,887 (GRCm39) missense probably damaging 1.00
R5539:Fndc5 UTSW 4 129,032,514 (GRCm39) missense probably damaging 1.00
R6242:Fndc5 UTSW 4 129,033,688 (GRCm39) missense probably benign 0.23
R6951:Fndc5 UTSW 4 129,032,573 (GRCm39) missense possibly damaging 0.77
R7027:Fndc5 UTSW 4 129,033,316 (GRCm39) missense probably benign 0.00
R7112:Fndc5 UTSW 4 129,035,915 (GRCm39) missense probably benign 0.09
R8947:Fndc5 UTSW 4 129,030,929 (GRCm39) missense probably benign 0.04
RF014:Fndc5 UTSW 4 129,035,960 (GRCm39) missense probably benign 0.00
Z31818:Fndc5 UTSW 4 129,033,142 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGTCACAAGGAACCTGGGG -3'
(R):5'- CCACCTTCTGAGTTCTGGGATTAC -3'

Sequencing Primer
(F):5'- TCAGCCACTGAGGAACCGAG -3'
(R):5'- TTACAGCATGAAATACCATATGCGC -3'
Posted On 2020-07-28