Mutagenetix > Incidental Mutation

Incidental Mutation 'R5353:Fmn2'

423885

Institutional Source

Beutler Lab

Gene Symbol

Fmn2

Ensembl Gene

ENSMUSG00000028354

Gene Name

formin 2

Synonyms

MMRRC Submission

042932-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.774) question?

Stock #

R5353 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

174501825-174822729 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 174503006 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 321 (G321W)

Ref Sequence

ENSEMBL: ENSMUSP00000030039 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030039]

AlphaFold

Q9JL04

Predicted Effect

unknown
Transcript: ENSMUST00000030039
AA Change: G321W

SMART Domains

Protein: ENSMUSP00000030039
Gene: ENSMUSG00000028354
AA Change: G321W

Domain	Start	End	E-Value	Type
low complexity region	35	69	N/A	INTRINSIC
low complexity region	196	212	N/A	INTRINSIC
low complexity region	304	334	N/A	INTRINSIC
Blast:FH2	353	577	2e-97	BLAST
low complexity region	604	616	N/A	INTRINSIC
coiled coil region	645	681	N/A	INTRINSIC
Blast:FH2	710	788	2e-14	BLAST
low complexity region	796	831	N/A	INTRINSIC
Pfam:Drf_FH1	942	1048	3.1e-16	PFAM
low complexity region	1117	1131	N/A	INTRINSIC
FH2	1139	1543	1.29e-85	SMART
PDB:2YLE\|B	1550	1578	4e-11	PDB

Meta Mutation Damage Score

0.0776

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin cytoskeleton and in cell polarity. Mutations in this gene have been associated with mental retardation autosomal recessive 47 (MRT47). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
PHENOTYPE: Female mice homozygous for a knock-out allele display polyploid embryo formation, recurrent pregnancy loss, hypofertility, and inadequate nursing behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	G	18: 61,801,399	S649P	probably damaging	Het
Adam22	C	A	5: 8,090,182	G202W	probably damaging	Het
Adamts1	T	A	16: 85,802,608	M35L	probably benign	Het
Adgrg3	A	T	8: 95,035,928	H202L	probably damaging	Het
Anln	G	T	9: 22,360,517	R681S	probably damaging	Het
Aprt	A	T	8: 122,575,408	M1K	probably null	Het
Arid3b	G	T	9: 57,795,037		probably null	Het
BC080695	A	G	4: 143,571,237	T76A	probably benign	Het
Cbl	A	G	9: 44,173,323	F172L	probably damaging	Het
Cd109	G	T	9: 78,710,239	V1340L	probably damaging	Het
Cdc45	C	T	16: 18,795,897	R205H	probably damaging	Het
Chrm3	A	G	13: 9,878,557	Y148H	probably damaging	Het
Cog7	A	C	7: 121,941,247		probably null	Het
Cpsf1	A	T	15: 76,602,571	I255N	probably damaging	Het
Crebzf	G	A	7: 90,443,414	G134R	probably damaging	Het
Crybg1	T	C	10: 43,973,665	S1705G	probably damaging	Het
Dock6	A	T	9: 21,814,786	H1409Q	probably benign	Het
Fank1	A	G	7: 133,876,903	D232G	probably damaging	Het
Fat1	G	T	8: 45,036,131	V3480L	probably benign	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Greb1	A	T	12: 16,688,566	Y1465*	probably null	Het
Hdac9	G	A	12: 34,393,393	Q330*	probably null	Het
Kcnt2	C	T	1: 140,426,901	T298I	probably damaging	Het
Knl1	A	G	2: 119,070,983	D1055G	probably benign	Het
Mroh2b	T	C	15: 4,917,178	S487P	probably damaging	Het
Naa38	G	A	11: 69,396,582	V110I	probably benign	Het
Nkd2	T	C	13: 73,821,438	H303R	probably damaging	Het
Nr1d2	A	G	14: 18,222,125	C49R	probably benign	Het
Olfr1216	A	G	2: 89,013,755	V103A	probably benign	Het
Olfr691	A	G	7: 105,337,117	Y200H	probably damaging	Het
Ovch2	T	A	7: 107,794,424	E165V	probably damaging	Het
Phyh	A	T	2: 4,942,201		probably benign	Het
Pik3r4	G	A	9: 105,667,938		probably null	Het
Ppip5k1	A	C	2: 121,311,720	V1416G	probably benign	Het
Ppm1b	T	C	17: 84,994,109	V139A	probably benign	Het
Ppp1r12a	T	G	10: 108,261,216		probably null	Het
Psmc5	G	T	11: 106,261,501	A115S	probably damaging	Het
Ptpn5	T	A	7: 47,081,894	E409V	probably benign	Het
Ptprg	T	A	14: 11,554,235		probably benign	Het
Qrich1	G	T	9: 108,544,965	V593F	probably damaging	Het
Rbbp9	T	C	2: 144,543,821	I175V	probably benign	Het
Selenot	T	C	3: 58,585,966	F88S	possibly damaging	Het
Sp110	C	T	1: 85,589,120	E219K	possibly damaging	Het
Spred2	A	G	11: 20,018,155	D208G	possibly damaging	Het
Surf1	T	C	2: 26,914,192	T197A	probably benign	Het
Taco1	G	A	11: 106,072,713		probably null	Het
Tas2r109	A	G	6: 132,980,631	V112A	possibly damaging	Het
Tpr	C	T	1: 150,445,924	R3C	probably damaging	Het
Uggt2	A	G	14: 119,081,770	I280T	probably benign	Het
Yipf2	A	G	9: 21,591,932	Y80H	possibly damaging	Het
Zscan12	T	C	13: 21,364,008	V120A	possibly damaging	Het

Other mutations in Fmn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Fmn2	APN	1	174503319	missense	unknown
IGL01085:Fmn2	APN	1	174695654	missense	probably damaging	1.00
IGL01784:Fmn2	APN	1	174502428	missense	unknown
IGL02095:Fmn2	APN	1	174502601	missense	unknown
IGL02330:Fmn2	APN	1	174609945	missense	probably benign	0.38
IGL02552:Fmn2	APN	1	174695720	missense	probably damaging	1.00
IGL02835:Fmn2	UTSW	1	174582059	missense	unknown
PIT4498001:Fmn2	UTSW	1	174612604	missense	probably damaging	1.00
PIT4677001:Fmn2	UTSW	1	174647133	missense	probably damaging	1.00
R0025:Fmn2	UTSW	1	174791314	missense	probably damaging	1.00
R0062:Fmn2	UTSW	1	174608449	unclassified	probably benign
R0062:Fmn2	UTSW	1	174608449	unclassified	probably benign
R0306:Fmn2	UTSW	1	174609484	unclassified	probably benign
R0325:Fmn2	UTSW	1	174609954	critical splice donor site	probably null
R0403:Fmn2	UTSW	1	174694278	missense	probably damaging	1.00
R0491:Fmn2	UTSW	1	174581959	missense	unknown
R0898:Fmn2	UTSW	1	174503460	missense	unknown
R1202:Fmn2	UTSW	1	174612535	nonsense	probably null
R1719:Fmn2	UTSW	1	174608458	unclassified	probably benign
R1763:Fmn2	UTSW	1	174502266	missense	unknown
R1771:Fmn2	UTSW	1	174608776	unclassified	probably benign
R1777:Fmn2	UTSW	1	174581922	missense	unknown
R1831:Fmn2	UTSW	1	174609945	missense	probably benign	0.38
R2259:Fmn2	UTSW	1	174502932	missense	unknown
R2960:Fmn2	UTSW	1	174609819	missense	probably damaging	1.00
R3545:Fmn2	UTSW	1	174502626	missense	unknown
R3840:Fmn2	UTSW	1	174582033	frame shift	probably null
R4207:Fmn2	UTSW	1	174581955	missense	unknown
R4679:Fmn2	UTSW	1	174503162	missense	unknown
R4779:Fmn2	UTSW	1	174609895	missense	probably damaging	1.00
R4887:Fmn2	UTSW	1	174581961	missense	unknown
R4926:Fmn2	UTSW	1	174502415	missense	unknown
R5007:Fmn2	UTSW	1	174744300	missense	probably damaging	1.00
R5247:Fmn2	UTSW	1	174821228	missense	probably benign	0.04
R5324:Fmn2	UTSW	1	174608880	unclassified	probably benign
R5420:Fmn2	UTSW	1	174698778	nonsense	probably null
R5607:Fmn2	UTSW	1	174609811	missense	probably damaging	0.97
R5668:Fmn2	UTSW	1	174582037	missense	unknown
R5982:Fmn2	UTSW	1	174502453	missense	unknown
R6148:Fmn2	UTSW	1	174666663	missense	probably damaging	1.00
R6324:Fmn2	UTSW	1	174612553	missense	possibly damaging	0.87
R6466:Fmn2	UTSW	1	174609583	unclassified	probably benign
R6647:Fmn2	UTSW	1	174593104	missense	unknown
R6835:Fmn2	UTSW	1	174699669	missense	probably damaging	1.00
R7231:Fmn2	UTSW	1	174609203	unclassified	probably benign
R7340:Fmn2	UTSW	1	174609203	unclassified	probably benign
R7378:Fmn2	UTSW	1	174609203	unclassified	probably benign
R7457:Fmn2	UTSW	1	174503737	splice site	probably null
R7474:Fmn2	UTSW	1	174609203	unclassified	probably benign
R7564:Fmn2	UTSW	1	174609574	missense	unknown
R7582:Fmn2	UTSW	1	174698790	missense	probably damaging	1.00
R7748:Fmn2	UTSW	1	174666649	missense	probably damaging	1.00
R7832:Fmn2	UTSW	1	174609203	unclassified	probably benign
R8035:Fmn2	UTSW	1	174719871	missense	probably damaging	1.00
R8203:Fmn2	UTSW	1	174609203	unclassified	probably benign
R8343:Fmn2	UTSW	1	174609203	unclassified	probably benign
R8371:Fmn2	UTSW	1	174609607	missense	unknown
R8377:Fmn2	UTSW	1	174608445	nonsense	probably null
R8543:Fmn2	UTSW	1	174609203	unclassified	probably benign
R8724:Fmn2	UTSW	1	174609203	unclassified	probably benign
R8726:Fmn2	UTSW	1	174609838	missense	possibly damaging	0.86
R8891:Fmn2	UTSW	1	174609203	unclassified	probably benign
R9074:Fmn2	UTSW	1	174608632	missense	unknown
R9167:Fmn2	UTSW	1	174503490	missense	unknown
R9489:Fmn2	UTSW	1	174608628	nonsense	probably null
R9598:Fmn2	UTSW	1	174608742	missense	unknown
R9605:Fmn2	UTSW	1	174608628	nonsense	probably null
R9698:Fmn2	UTSW	1	174537173	missense	unknown
RF010:Fmn2	UTSW	1	174582015	missense	unknown
Z1176:Fmn2	UTSW	1	174608394	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGAGACCTGACTTGCCTGAG -3'
(R):5'- TGGGTAAGGTTTGAAGCAGC -3'

Sequencing Primer
(F):5'- AGACCACCAAGTCTCTGGTG -3'
(R):5'- TTTGAAGCAGCGTGGGC -3'

Posted On

2016-08-04