Mutagenetix > Incidental Mutation

Incidental Mutation 'R3962:Fndc5'

312116

Institutional Source

Beutler Lab

Gene Symbol

Fndc5

Ensembl Gene

ENSMUSG00000001334

Gene Name

fibronectin type III domain containing 5

Synonyms

Pxp, 1500001L03Rik, PeP

MMRRC Submission

040837-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R3962 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129030792-129038386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129033688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 152 (V152A)

Ref Sequence

ENSEMBL: ENSMUSP00000099660 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102600]

AlphaFold

Q8K4Z2

Predicted Effect

probably benign
Transcript: ENSMUST00000102600
AA Change: V152A

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099660
Gene: ENSMUSG00000001334
AA Change: V152A

Domain	Start	End	E-Value	Type
FN3	31	111	7.34e-9	SMART
Pfam:DUF4808	146	204	4.7e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124746

Meta Mutation Damage Score

0.0696

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 93.9%

Validation Efficiency

96% (48/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Abca12	A	T	1: 71,313,674 (GRCm39)		probably null	Het
Ablim2	C	T	5: 35,969,519 (GRCm39)	R211C	probably damaging	Het
Actn4	C	A	7: 28,597,647 (GRCm39)		probably null	Het
B3gnt5	A	G	16: 19,587,798 (GRCm39)	S6G	probably benign	Het
Bod1l	T	G	5: 41,966,064 (GRCm39)	E2667A	probably benign	Het
Ccdc13	G	A	9: 121,628,005 (GRCm39)		probably benign	Het
Ccdc15	G	T	9: 37,231,782 (GRCm39)	R181S	probably damaging	Het
Ccnd1	G	A	7: 144,487,787 (GRCm39)	T230M	probably damaging	Het
Cdcp1	T	C	9: 123,011,446 (GRCm39)	T344A	possibly damaging	Het
Fam161a	T	C	11: 22,973,507 (GRCm39)	M275T	possibly damaging	Het
Fbxo15	A	G	18: 84,977,372 (GRCm39)	T95A	probably benign	Het
Galk2	A	T	2: 125,735,293 (GRCm39)	N107I	probably benign	Het
Glmn	A	T	5: 107,708,911 (GRCm39)		probably benign	Het
Gm5082	T	C	13: 41,809,894 (GRCm39)		noncoding transcript	Het
Gm5828	C	T	1: 16,838,868 (GRCm39)		noncoding transcript	Het
Haus6	C	T	4: 86,530,041 (GRCm39)	A4T	possibly damaging	Het
Hmgcs2	G	A	3: 98,198,354 (GRCm39)	V86M	possibly damaging	Het
Hrg	G	A	16: 22,774,825 (GRCm39)	V152I	possibly damaging	Het
Itga2	A	T	13: 114,976,054 (GRCm39)	V1106E	probably damaging	Het
Itga9	G	A	9: 118,457,254 (GRCm39)	D122N	possibly damaging	Het
Kif21a	T	A	15: 90,869,612 (GRCm39)	E413V	probably damaging	Het
Klk1	A	G	7: 43,878,973 (GRCm39)	T256A	possibly damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	Het
Larp4	C	A	15: 99,910,026 (GRCm39)	Q652K	probably damaging	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Minar1	G	A	9: 89,483,963 (GRCm39)	T478I	probably damaging	Het
Moxd2	T	A	6: 40,862,331 (GRCm39)	M163L	probably benign	Het
Myo15a	G	A	11: 60,370,654 (GRCm39)	R1138H	probably benign	Het
Oasl2	A	G	5: 115,035,808 (GRCm39)	D28G	probably benign	Het
Or6c207	A	T	10: 129,104,535 (GRCm39)	I219N	probably damaging	Het
Platr26	A	T	2: 71,549,849 (GRCm39)		noncoding transcript	Het
Ptdss1	A	G	13: 67,142,075 (GRCm39)	H411R	probably benign	Het
Ptpra	A	G	2: 30,325,672 (GRCm39)	T147A	probably damaging	Het
Rfx2	T	C	17: 57,092,302 (GRCm39)	Y307C	probably damaging	Het
Rtn3	T	C	19: 7,435,510 (GRCm39)	S142G	probably damaging	Het
Shisa6	A	G	11: 66,108,302 (GRCm39)	V525A	probably damaging	Het
Slc4a3	A	G	1: 75,533,398 (GRCm39)	S1007G	probably damaging	Het
Spmip5	A	G	19: 58,777,541 (GRCm39)	Y82H	probably damaging	Het
Srsf3	C	T	17: 29,255,430 (GRCm39)		probably benign	Het
Taar8a	A	G	10: 23,953,054 (GRCm39)	I219M	probably damaging	Het
Tars2	A	G	3: 95,662,068 (GRCm39)		probably null	Het
Tfap2d	A	G	1: 19,189,189 (GRCm39)	N245S	probably damaging	Het
Tlr6	T	A	5: 65,112,328 (GRCm39)	H193L	probably benign	Het
Tomm20l	T	C	12: 71,164,352 (GRCm39)	V78A	probably benign	Het
Tsc2	G	A	17: 24,840,140 (GRCm39)		probably benign	Het
Usp2	A	G	9: 43,986,954 (GRCm39)	D84G	possibly damaging	Het
V1ra8	A	G	6: 90,180,466 (GRCm39)	N223S	probably benign	Het
Wnk2	C	A	13: 49,224,453 (GRCm39)	R1122L	probably damaging	Het

Other mutations in Fndc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R8254:Fndc5	UTSW	4	129,032,514 (GRCm39)	missense	possibly damaging	0.86
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'- ATGCTGTCGCCCCAAAACAG -3'
(R):5'- CCACAGCATACAAGATGGTAGC -3'

Sequencing Primer
(F):5'- AACAGCCTTCACCCTGTTCCTG -3'
(R):5'- CATACAAGATGGTAGCAACATGC -3'

Posted On

2015-04-29