Mutagenetix > Incidental Mutation

Incidental Mutation 'R9698:Fmn2'

729407

Institutional Source

Beutler Lab

Gene Symbol

Fmn2

Ensembl Gene

ENSMUSG00000028354

Gene Name

formin 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.774) question?

Stock #

R9698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

174501825-174822729 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 174537173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 559 (C559S)

Ref Sequence

ENSEMBL: ENSMUSP00000030039 (fasta)

Gene Model

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

AlphaFold

Q9JL04

Predicted Effect

unknown
Transcript: ENSMUST00000030039
AA Change: C559S

SMART Domains

Protein: ENSMUSP00000030039
Gene: ENSMUSG00000028354
AA Change: C559S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,626,031	M1124V	probably benign	Het
Adamts9	A	G	6: 92,807,140	C1578R	probably damaging	Het
Adprhl2	T	C	4: 126,316,721	D322G	probably damaging	Het
Anks3	T	C	16: 4,948,249	E327G	probably benign	Het
Aspm	T	G	1: 139,461,908	N689K	probably benign	Het
Bsn	T	A	9: 108,115,971	I861F	probably damaging	Het
Camk2d	C	T	3: 126,840,184	H452Y	possibly damaging	Het
Cerk	T	C	15: 86,142,794	K477E	probably benign	Het
Cntn6	T	A	6: 104,833,083	Y575*	probably null	Het
Copg2	T	C	6: 30,861,438	E141G	probably damaging	Het
D430041D05Rik	A	G	2: 104,155,051	S1224P	probably damaging	Het
Dhrs3	T	C	4: 144,919,938	I186T	possibly damaging	Het
Erich2	A	G	2: 70,540,711	D431G	unknown	Het
Gm4858	T	A	3: 93,074,420	D174E	possibly damaging	Het
Gpr180	G	A	14: 118,153,890	G235R	probably damaging	Het
Hoxa13	T	C	6: 52,259,044	T174A	probably benign	Het
Hrh3	A	G	2: 180,101,413	S141P	possibly damaging	Het
Hrnr	T	C	3: 93,325,787	S1111P	unknown	Het
Il12rb1	G	T	8: 70,811,204	Q136H	possibly damaging	Het
Kcna3	T	C	3: 107,037,089	S223P	probably benign	Het
Map10	T	A	8: 125,671,984	N705K	probably benign	Het
Marf1	C	A	16: 14,149,213	V345L	probably benign	Het
Mcub	C	T	3: 129,917,019	D255N	probably damaging	Het
Mfsd14b	C	A	13: 65,073,600	V293L	probably benign	Het
Mroh3	T	C	1: 136,186,714	T625A	probably damaging	Het
Myo18a	A	G	11: 77,829,855	Y1152C	probably damaging	Het
Ncdn	T	C	4: 126,749,895	Y378C	probably damaging	Het
Olfr165	A	T	16: 19,407,592	C141*	probably null	Het
Olfr390	T	C	11: 73,787,616	L226P	probably damaging	Het
Olfr544	G	A	7: 102,484,170	Q317*	probably null	Het
Pcm1	T	C	8: 41,270,504	L342P	possibly damaging	Het
Pdlim1	T	A	19: 40,230,515	D224V	probably benign	Het
Plxnb1	A	G	9: 109,096,183		probably benign	Het
Pot1a	T	C	6: 25,744,616	I630V	probably damaging	Het
Ppil4	A	G	10: 7,807,269		probably null	Het
Ptpru	A	T	4: 131,820,220	I174K	probably benign	Het
Rab11fip4	T	A	11: 79,692,766	L612Q	probably damaging	Het
Rassf4	A	G	6: 116,641,701	L207P	probably damaging	Het
Reg3g	A	C	6: 78,467,822	S58A	probably benign	Het
Ric8b	T	C	10: 84,947,497	L73P	probably damaging	Het
Rmdn2	A	G	17: 79,650,300		probably null	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Slc46a2	A	G	4: 59,912,582	S397P	probably damaging	Het
Smpd3	A	T	8: 106,265,664	S86T	possibly damaging	Het
Sumf1	T	C	6: 108,154,962	H198R	probably benign	Het
Tagap1	C	G	17: 6,961,078	D18H	probably damaging	Het
Tcf23	C	T	5: 30,968,881	R35C	probably damaging	Het
Tenm3	G	A	8: 48,236,211	L2114F	probably damaging	Het
Ttn	A	T	2: 76,943,374	I2301K	unknown	Het
Ubr4	A	G	4: 139,440,664	E1496G		Het
Usp48	T	C	4: 137,633,891	V756A	possibly damaging	Het
Zfp626	A	G	7: 27,819,015	I474V	possibly damaging	Het
Zfpm1	T	A	8: 122,337,129	S976T	unknown	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
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
RF010:Fmn2	UTSW	1	174582015	missense	unknown
Z1176:Fmn2	UTSW	1	174608394	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCACTGGTGATGTTTACTGTCC -3'
(R):5'- GAAAAGACAATCTGCTCCGTCG -3'

Sequencing Primer
(F):5'- TGAGCCAGGTGATCTGCCAAC -3'
(R):5'- ACAATCTGCTCCGTCGAGTGG -3'

Posted On

2022-10-06