Mutagenetix > Incidental Mutation

Incidental Mutation 'R6242:Fndc5'

505286

Institutional Source

Beutler Lab

Gene Symbol

Fndc5

Ensembl Gene

ENSMUSG00000001334

Gene Name

fibronectin type III domain containing 5

Synonyms

1500001L03Rik, PeP, Pxp

MMRRC Submission

Accession Numbers

Genbank: NM_027402; MGI: 1917614

Is this an essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R6242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129136999-129144593 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129139895 bp (GRCm38)

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

99% (75/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	C	T	9: 50,763,915	E148K	probably benign	Het
1700016K19Rik	T	C	11: 76,000,155	S32P	probably damaging	Het
4933425L06Rik	T	A	13: 105,109,540	V203E	probably benign	Het
Adcy6	G	T	15: 98,604,015	C239*	probably null	Het
Akr1c6	A	G	13: 4,436,362	Q56R	probably benign	Het
Apaf1	T	A	10: 91,062,163	D244V	probably damaging	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Arhgef11	C	A	3: 87,728,078	A898E	probably benign	Het
Asxl3	A	T	18: 22,522,376	N1148Y	probably damaging	Het
Atf6	T	A	1: 170,793,976	Q492L	possibly damaging	Het
Atrnl1	G	T	19: 57,642,478	V226F	probably benign	Het
Cntnap1	A	T	11: 101,182,538	Y615F	probably damaging	Het
Crybg3	T	C	16: 59,555,690	T1734A	probably benign	Het
Ctdp1	A	C	18: 80,459,212	V161G	probably damaging	Het
Cyp4a30b	T	A	4: 115,454,390	V85E	possibly damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Epha6	A	T	16: 59,682,662	W961R	probably damaging	Het
Fam114a1	A	G	5: 65,031,352	E475G	probably damaging	Het
Fam186a	A	G	15: 99,939,907	Y2819H	unknown	Het
Fancm	A	T	12: 65,116,442	Q1460L	probably benign	Het
Fancm	C	A	12: 65,116,449	N1462K	probably benign	Het
Fgf14	T	C	14: 124,676,528	K64E	probably benign	Het
Garem1	C	G	18: 21,129,172	V862L	possibly damaging	Het
Grin3b	G	A	10: 79,976,179	G814R	probably damaging	Het
Hacd4	A	G	4: 88,414,287	S226P	probably benign	Het
Htt	A	G	5: 34,846,012	Y1277C	probably damaging	Het
Igkv1-131	T	A	6: 67,766,078	D107V	probably damaging	Het
Iqcc	T	C	4: 129,616,846	D292G	probably damaging	Het
Krtap13	C	T	16: 88,751,496	V35I	probably damaging	Het
Lrrc59	G	T	11: 94,634,983	L132F	possibly damaging	Het
Mcub	T	C	3: 129,915,795	S290G	probably benign	Het
Mettl4	A	G	17: 94,735,374	W345R	probably damaging	Het
Msgn1	G	A	12: 11,208,525	R142W	probably damaging	Het
Myo5c	A	G	9: 75,273,611	I761V	probably benign	Het
Neb	T	A	2: 52,176,812	K5879M	probably damaging	Het
Nkd2	C	T	13: 73,822,786	V226M	probably damaging	Het
Olfr1459	T	A	19: 13,146,086	H191L	probably benign	Het
Olfr645	T	G	7: 104,084,564	H172P	possibly damaging	Het
Parp4	T	A	14: 56,595,399	L393*	probably null	Het
Pcdhgb6	G	A	18: 37,743,555	V439I	probably benign	Het
Pde1a	T	A	2: 80,128,792	T15S	probably benign	Het
Pgr	T	A	9: 8,900,979	I171N	probably benign	Het
Podxl	T	A	6: 31,526,245	D296V	probably benign	Het
Polr3e	A	T	7: 120,940,467	E479V	possibly damaging	Het
Prdm10	A	T	9: 31,341,252	H427L	possibly damaging	Het
Prl5a1	A	T	13: 28,142,555	K5*	probably null	Het
Prph	A	G	15: 99,057,123	S325G	probably damaging	Het
Rabl2	C	A	15: 89,584,352	W49L	probably benign	Het
Rbbp8nl	T	A	2: 180,280,974	I209F	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Scn7a	T	C	2: 66,700,766	D589G	probably benign	Het
Sdr42e1	A	T	8: 117,663,197	L235Q	possibly damaging	Het
Serpina3a	T	C	12: 104,116,001	M11T	probably benign	Het
Slc6a4	A	T	11: 77,018,358	K399*	probably null	Het
Slco4c1	T	A	1: 96,839,283	T337S	probably damaging	Het
Spc25	A	T	2: 69,197,211	F112L	probably damaging	Het
Swt1	A	G	1: 151,407,614	S331P	probably benign	Het
Tab1	A	T	15: 80,155,770	K264*	probably null	Het
Tagln3	T	A	16: 45,724,338		probably benign	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Tbck	A	G	3: 132,694,428	D80G	probably benign	Het
Tcim	A	T	8: 24,438,895	M1K	probably null	Het
Thap2	A	G	10: 115,372,926	S37P	unknown	Het
Tjp2	A	T	19: 24,099,603		probably null	Het
Tln1	G	A	4: 43,533,145	S2390L	probably damaging	Het
Trpm5	T	G	7: 143,073,182	I1101L	probably benign	Het
Ttc3	T	G	16: 94,442,695	M831R	probably benign	Het
Tulp3	A	G	6: 128,323,087	C459R	probably damaging	Het
Uaca	G	A	9: 60,870,044	R571Q	probably damaging	Het
Unc13b	A	T	4: 43,165,800	T195S	possibly damaging	Het
Urgcp	A	G	11: 5,716,691	L549P	probably benign	Het
Usp10	G	T	8: 119,941,838	A293S	probably benign	Het
Vmn2r23	A	G	6: 123,704,400	E89G	possibly damaging	Het
Vmn2r75	A	C	7: 86,165,384	D300E	probably damaging	Het
Wif1	T	C	10: 121,034,461	I40T	possibly damaging	Het
Zmynd8	G	A	2: 165,898,947	R6C	possibly damaging	Het

Other mutations in Fndc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02656:Fndc5	APN	4	129139446	missense	probably damaging	1.00
IGL03336:Fndc5	APN	4	129139918	missense	probably benign	0.00
N/A - 287:Fndc5	UTSW	4	129139349	missense	probably damaging	1.00
R0645:Fndc5	UTSW	4	129139837	splice site	probably benign
R1202:Fndc5	UTSW	4	129139445	missense	probably damaging	0.97
R3962:Fndc5	UTSW	4	129139895	missense	probably benign	0.23
R4408:Fndc5	UTSW	4	129142529	splice site	probably null
R5379:Fndc5	UTSW	4	129142094	missense	probably damaging	1.00
R5539:Fndc5	UTSW	4	129138721	missense	probably damaging	1.00
R6951:Fndc5	UTSW	4	129138780	missense	possibly damaging	0.77
R7027:Fndc5	UTSW	4	129139523	missense	probably benign	0.00
R7112:Fndc5	UTSW	4	129142122	missense	probably benign	0.09
R8254:Fndc5	UTSW	4	129138721	missense	possibly damaging	0.86
R8947:Fndc5	UTSW	4	129137136	missense	probably benign	0.04
RF014:Fndc5	UTSW	4	129142167	missense	probably benign	0.00
Z31818:Fndc5	UTSW	4	129139349	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGAGTCCAAATGCTGTCGC -3'
(R):5'- CCACAGCATACAAGATGGTAGC -3'

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

Posted On

2018-02-28