Mutagenetix > Incidental Mutation

Incidental Mutation 'R5420:Fmn2'

427965

Institutional Source

Beutler Lab

Gene Symbol

Fmn2

Ensembl Gene

ENSMUSG00000028354

Gene Name

formin 2

Synonyms

MMRRC Submission

042988-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.763) question?

Stock #

R5420 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

174501825-174822729 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 174698778 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1388 (R1388*)

Ref Sequence

ENSEMBL: ENSMUSP00000030039 (fasta)

Gene Model

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

AlphaFold

Q9JL04

Predicted Effect

probably null
Transcript: ENSMUST00000030039
AA Change: R1388*

SMART Domains

Protein: ENSMUSP00000030039
Gene: ENSMUSG00000028354
AA Change: R1388*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191971

Predicted Effect

probably benign
Transcript: ENSMUST00000195621

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

97% (66/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	TGCGCAGC	T	19: 4,865,344		probably null	Het
Adamts1	A	T	16: 85,799,609	C117*	probably null	Het
Adgrg6	A	T	10: 14,426,986	Y894*	probably null	Het
Akap2	G	A	4: 57,856,062	V505I	probably benign	Het
Akap2	T	A	4: 57,856,434	Y588N	probably damaging	Het
Alas1	G	T	9: 106,234,159	L603I	probably benign	Het
Arhgap21	G	T	2: 20,881,086	R427S	probably damaging	Het
Arhgef25	A	T	10: 127,187,274	V88D	probably benign	Het
BC005561	T	A	5: 104,518,359	I249N	probably damaging	Het
Bdp1	T	C	13: 100,066,043	Q691R	possibly damaging	Het
Bpifa6	T	A	2: 153,989,330	I272N	probably damaging	Het
Cacybp	T	C	1: 160,208,344		probably benign	Het
Capn3	T	C	2: 120,495,296		probably benign	Het
Ccdc47	C	T	11: 106,210,350	R162Q	probably benign	Het
Cideb	A	C	14: 55,758,291	M1R	probably null	Het
Clec16a	G	A	16: 10,731,679	C872Y	probably damaging	Het
Crebbp	C	T	16: 4,107,458	R760H	probably damaging	Het
Cyp2c23	A	C	19: 44,015,664		probably null	Het
Cyp3a13	T	G	5: 137,898,981	D357A	probably damaging	Het
Dip2b	C	T	15: 100,205,173		probably benign	Het
Ecm2	A	T	13: 49,527,734	R448S	possibly damaging	Het
Edil3	T	C	13: 89,131,772	Y190H	probably damaging	Het
Eps8l1	T	G	7: 4,470,161		probably null	Het
Eps8l3	A	T	3: 107,883,985	K280*	probably null	Het
Fam184a	A	G	10: 53,633,657	F1137L	probably damaging	Het
Glt8d2	T	C	10: 82,652,682	K318R	probably benign	Het
Herc2	A	T	7: 56,203,830	K3690I	probably damaging	Het
Ifi206	T	A	1: 173,481,033	I466F	possibly damaging	Het
Jade2	T	C	11: 51,818,607	K525R	probably benign	Het
Kmt2a	A	T	9: 44,848,336	F772I	probably damaging	Het
Lipi	A	G	16: 75,555,869	V360A	possibly damaging	Het
Mbl1	C	T	14: 41,157,196	S108L	possibly damaging	Het
Mmp1b	T	C	9: 7,384,897	I251V	possibly damaging	Het
Mrpl23	A	G	7: 142,536,137	T25A	probably damaging	Het
Mto1	T	A	9: 78,452,827	M199K	probably benign	Het
Nes	A	T	3: 87,977,002	N812I	probably damaging	Het
Nfkbie	T	A	17: 45,560,206	D261E	probably benign	Het
Olfr866	T	C	9: 20,027,059	Y293C	probably damaging	Het
Papola	A	G	12: 105,806,495	I114V	possibly damaging	Het
Pappa	T	G	4: 65,335,780		probably null	Het
Pcdh7	T	A	5: 57,720,187	D361E	probably damaging	Het
Pick1	A	G	15: 79,248,840	T367A	probably benign	Het
Plbd2	A	G	5: 120,494,482	Y152H	probably damaging	Het
Ppfia2	A	T	10: 106,835,701	E424D	possibly damaging	Het
Rab7b	C	T	1: 131,698,426	T64I	probably damaging	Het
Rarb	T	A	14: 16,434,249	I310F	possibly damaging	Het
Rdh16f2	C	T	10: 127,877,074	P314S	possibly damaging	Het
Rpain	A	T	11: 70,977,690		probably null	Het
Rufy3	T	C	5: 88,640,659	*488Q	probably null	Het
Sash1	G	A	10: 8,746,186	T398I	probably damaging	Het
Scara5	CG	C	14: 65,759,662		probably null	Het
Scrn1	T	A	6: 54,512,063	I358F	probably benign	Het
Stam2	G	A	2: 52,736,293		probably benign	Het
Thbs1	G	T	2: 118,113,155	D85Y	possibly damaging	Het
Trp53	T	C	11: 69,588,320		probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vmn1r223	A	G	13: 23,249,505	R90G	probably benign	Het
Zfp521	A	T	18: 13,844,087	Y1090N	probably damaging	Het
Zfp677	T	C	17: 21,397,913	C411R	probably 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
R5353:Fmn2	UTSW	1	174503006	missense	unknown
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'- AACATTCTGTCATCCAGCCC -3'
(R):5'- TCACATGCATGCATTATACTGC -3'

Sequencing Primer
(F):5'- TGTCATCCAGCCCTTTAGATACAAGG -3'
(R):5'- GCATGCATTATACTGCTATACACAC -3'

Posted On

2016-09-01