Mutagenetix > Incidental Mutation

Incidental Mutation 'R6835:Fmn2'

534379

Institutional Source

Beutler Lab

Gene Symbol

Fmn2

Ensembl Gene

ENSMUSG00000028354

Gene Name

formin 2

Synonyms

MMRRC Submission

044944-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.816) question?

Stock #

R6835 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

174329391-174650295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 174527235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1442 (D1442E)

Ref Sequence

ENSEMBL: ENSMUSP00000030039 (fasta)

Gene Model

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

AlphaFold

Q9JL04

Predicted Effect

probably damaging
Transcript: ENSMUST00000030039
AA Change: D1442E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030039
Gene: ENSMUSG00000028354
AA Change: D1442E

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: 99.5%
20x: 98.2%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,807,761 (GRCm39)	R695G	probably benign	Het
Arhgef4	A	G	1: 34,845,574 (GRCm39)	H1533R	probably damaging	Het
Birc6	T	C	17: 74,949,499 (GRCm39)	L3120P	probably damaging	Het
Cfap46	T	A	7: 139,232,414 (GRCm39)	I850F	probably damaging	Het
Crym	A	C	7: 119,785,868 (GRCm39)	S311A	probably benign	Het
Cttn	T	C	7: 144,010,234 (GRCm39)		probably null	Het
Dtnb	C	T	12: 3,682,841 (GRCm39)		probably benign	Het
Edem1	T	C	6: 108,831,360 (GRCm39)	V607A	probably benign	Het
Etfa	A	G	9: 55,403,103 (GRCm39)	V64A	probably benign	Het
Fam133b	A	G	5: 3,604,732 (GRCm39)	T40A	possibly damaging	Het
Gpi1	T	C	7: 33,926,563 (GRCm39)	K128E	possibly damaging	Het
Gpr179	A	T	11: 97,238,293 (GRCm39)	F310L	probably damaging	Het
Hdac7	T	A	15: 97,700,628 (GRCm39)	H531L	probably damaging	Het
Hfm1	G	A	5: 107,026,681 (GRCm39)	R145*	probably null	Het
Hsp90b1	A	T	10: 86,529,949 (GRCm39)	D573E	probably damaging	Het
Hunk	T	G	16: 90,269,412 (GRCm39)	W243G	probably damaging	Het
Icam1	G	T	9: 20,938,421 (GRCm39)	G327W	possibly damaging	Het
Ino80d	C	A	1: 63,113,485 (GRCm39)	A322S	probably benign	Het
Irag1	T	G	7: 110,520,541 (GRCm39)	E278A	probably damaging	Het
Itpkc	A	C	7: 26,927,240 (GRCm39)	S225A	probably benign	Het
Krt75	C	T	15: 101,479,472 (GRCm39)	R286Q	probably benign	Het
Lmnb2	A	G	10: 80,745,794 (GRCm39)	L95P	probably damaging	Het
Mns1	T	C	9: 72,360,026 (GRCm39)	M392T	probably damaging	Het
Morc3	A	T	16: 93,644,309 (GRCm39)	N200I	probably damaging	Het
Myadm	T	C	7: 3,346,192 (GRCm39)	V318A	possibly damaging	Het
Nt5dc1	A	C	10: 34,186,375 (GRCm39)	S398A	probably benign	Het
Or13c7	T	C	4: 43,854,912 (GRCm39)	V201A	probably benign	Het
Or1e31	A	G	11: 73,690,061 (GRCm39)	I174T	possibly damaging	Het
Pcdhga2	T	C	18: 37,803,842 (GRCm39)	I562T	probably damaging	Het
Pcdhgb1	T	A	18: 37,813,553 (GRCm39)	C15S	probably benign	Het
Pikfyve	T	G	1: 65,298,002 (GRCm39)	L1532R	probably damaging	Het
Rdh7	T	A	10: 127,720,608 (GRCm39)	T255S	probably benign	Het
Rtel1	A	G	2: 180,997,746 (GRCm39)	T1165A	probably benign	Het
Sdk2	C	T	11: 113,720,874 (GRCm39)	A1352T	probably damaging	Het
Strip2	T	C	6: 29,941,916 (GRCm39)	S629P	probably damaging	Het
Taf5	A	G	19: 47,065,776 (GRCm39)	T494A	possibly damaging	Het
Tek	T	G	4: 94,741,671 (GRCm39)	N809K	possibly damaging	Het
Tmbim7	A	T	5: 3,711,943 (GRCm39)	T63S	probably benign	Het
Utrn	A	T	10: 12,603,508 (GRCm39)	L624Q	probably damaging	Het
Xbp1	A	G	11: 5,471,809 (GRCm39)		probably benign	Het
Zbp1	T	A	2: 173,055,704 (GRCm39)		probably null	Het
Zfp112	T	C	7: 23,825,231 (GRCm39)	C400R	probably damaging	Het
Zfp202	C	T	9: 40,121,531 (GRCm39)		probably null	Het
Zfp747	T	C	7: 126,973,219 (GRCm39)	E317G	possibly damaging	Het

Other mutations in Fmn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Fmn2	APN	1	174,330,885 (GRCm39)	missense	unknown
IGL01085:Fmn2	APN	1	174,523,220 (GRCm39)	missense	probably damaging	1.00
IGL01784:Fmn2	APN	1	174,329,994 (GRCm39)	missense	unknown
IGL02095:Fmn2	APN	1	174,330,167 (GRCm39)	missense	unknown
IGL02330:Fmn2	APN	1	174,437,511 (GRCm39)	missense	probably benign	0.38
IGL02552:Fmn2	APN	1	174,523,286 (GRCm39)	missense	probably damaging	1.00
IGL02835:Fmn2	UTSW	1	174,409,625 (GRCm39)	missense	unknown
PIT4498001:Fmn2	UTSW	1	174,440,170 (GRCm39)	missense	probably damaging	1.00
PIT4677001:Fmn2	UTSW	1	174,474,699 (GRCm39)	missense	probably damaging	1.00
R0025:Fmn2	UTSW	1	174,618,880 (GRCm39)	missense	probably damaging	1.00
R0062:Fmn2	UTSW	1	174,436,015 (GRCm39)	unclassified	probably benign
R0062:Fmn2	UTSW	1	174,436,015 (GRCm39)	unclassified	probably benign
R0306:Fmn2	UTSW	1	174,437,050 (GRCm39)	unclassified	probably benign
R0325:Fmn2	UTSW	1	174,437,520 (GRCm39)	critical splice donor site	probably null
R0403:Fmn2	UTSW	1	174,521,844 (GRCm39)	missense	probably damaging	1.00
R0491:Fmn2	UTSW	1	174,409,525 (GRCm39)	missense	unknown
R0898:Fmn2	UTSW	1	174,331,026 (GRCm39)	missense	unknown
R1202:Fmn2	UTSW	1	174,440,101 (GRCm39)	nonsense	probably null
R1719:Fmn2	UTSW	1	174,436,024 (GRCm39)	unclassified	probably benign
R1763:Fmn2	UTSW	1	174,329,832 (GRCm39)	missense	unknown
R1771:Fmn2	UTSW	1	174,436,342 (GRCm39)	unclassified	probably benign
R1777:Fmn2	UTSW	1	174,409,488 (GRCm39)	missense	unknown
R1831:Fmn2	UTSW	1	174,437,511 (GRCm39)	missense	probably benign	0.38
R2259:Fmn2	UTSW	1	174,330,498 (GRCm39)	missense	unknown
R2960:Fmn2	UTSW	1	174,437,385 (GRCm39)	missense	probably damaging	1.00
R3545:Fmn2	UTSW	1	174,330,192 (GRCm39)	missense	unknown
R3840:Fmn2	UTSW	1	174,409,599 (GRCm39)	frame shift	probably null
R4207:Fmn2	UTSW	1	174,409,521 (GRCm39)	missense	unknown
R4679:Fmn2	UTSW	1	174,330,728 (GRCm39)	missense	unknown
R4779:Fmn2	UTSW	1	174,437,461 (GRCm39)	missense	probably damaging	1.00
R4887:Fmn2	UTSW	1	174,409,527 (GRCm39)	missense	unknown
R4926:Fmn2	UTSW	1	174,329,981 (GRCm39)	missense	unknown
R5007:Fmn2	UTSW	1	174,571,866 (GRCm39)	missense	probably damaging	1.00
R5247:Fmn2	UTSW	1	174,648,794 (GRCm39)	missense	probably benign	0.04
R5324:Fmn2	UTSW	1	174,436,446 (GRCm39)	unclassified	probably benign
R5353:Fmn2	UTSW	1	174,330,572 (GRCm39)	missense	unknown
R5420:Fmn2	UTSW	1	174,526,344 (GRCm39)	nonsense	probably null
R5607:Fmn2	UTSW	1	174,437,377 (GRCm39)	missense	probably damaging	0.97
R5668:Fmn2	UTSW	1	174,409,603 (GRCm39)	missense	unknown
R5982:Fmn2	UTSW	1	174,330,019 (GRCm39)	missense	unknown
R6148:Fmn2	UTSW	1	174,494,229 (GRCm39)	missense	probably damaging	1.00
R6324:Fmn2	UTSW	1	174,440,119 (GRCm39)	missense	possibly damaging	0.87
R6466:Fmn2	UTSW	1	174,437,149 (GRCm39)	unclassified	probably benign
R6647:Fmn2	UTSW	1	174,420,670 (GRCm39)	missense	unknown
R7231:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R7340:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R7378:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R7457:Fmn2	UTSW	1	174,331,303 (GRCm39)	splice site	probably null
R7474:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R7564:Fmn2	UTSW	1	174,437,140 (GRCm39)	missense	unknown
R7582:Fmn2	UTSW	1	174,526,356 (GRCm39)	missense	probably damaging	1.00
R7748:Fmn2	UTSW	1	174,494,215 (GRCm39)	missense	probably damaging	1.00
R7832:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R8035:Fmn2	UTSW	1	174,547,437 (GRCm39)	missense	probably damaging	1.00
R8203:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R8343:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R8371:Fmn2	UTSW	1	174,437,173 (GRCm39)	missense	unknown
R8377:Fmn2	UTSW	1	174,436,011 (GRCm39)	nonsense	probably null
R8543:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R8724:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R8726:Fmn2	UTSW	1	174,437,404 (GRCm39)	missense	possibly damaging	0.86
R8891:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R9074:Fmn2	UTSW	1	174,436,198 (GRCm39)	missense	unknown
R9167:Fmn2	UTSW	1	174,331,056 (GRCm39)	missense	unknown
R9489:Fmn2	UTSW	1	174,436,194 (GRCm39)	nonsense	probably null
R9598:Fmn2	UTSW	1	174,436,308 (GRCm39)	missense	unknown
R9605:Fmn2	UTSW	1	174,436,194 (GRCm39)	nonsense	probably null
R9698:Fmn2	UTSW	1	174,364,739 (GRCm39)	missense	unknown
RF010:Fmn2	UTSW	1	174,409,581 (GRCm39)	missense	unknown
Z1176:Fmn2	UTSW	1	174,435,960 (GRCm39)	missense	unknown

Predicted Primers

Posted On

2018-09-12