Mutagenetix > Incidental Mutation

Incidental Mutation 'R5607:Fmn2'

439318

Institutional Source

Beutler Lab

Gene Symbol

Fmn2

Ensembl Gene

ENSMUSG00000028354

Gene Name

formin 2

Synonyms

MMRRC Submission

043271-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.774) question?

Stock #

R5607 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

174501825-174822729 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 174609811 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 1116 (C1116Y)

Ref Sequence

ENSEMBL: ENSMUSP00000030039 (fasta)

Gene Model

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

AlphaFold

Q9JL04

Predicted Effect

probably damaging
Transcript: ENSMUST00000030039
AA Change: C1116Y

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030039
Gene: ENSMUSG00000028354
AA Change: C1116Y

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

noncoding transcript
Transcript: ENSMUST00000195300

Predicted Effect

unknown
Transcript: ENSMUST00000195621
AA Change: C1Y

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.8%

Validation Efficiency

96% (54/56)

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
Adgrl1	G	T	8: 83,937,257	G1118W	probably damaging	Het
Ajap1	T	A	4: 153,432,204	T227S	possibly damaging	Het
Ankmy1	A	G	1: 92,877,018	F851S	probably damaging	Het
Blvrb	C	T	7: 27,459,469	P98L	probably benign	Het
Bmpr1b	C	A	3: 141,857,522	M220I	possibly damaging	Het
Cacna1e	T	A	1: 154,471,340	N1027I	probably benign	Het
Cacng4	A	T	11: 107,734,784	V327E	probably damaging	Het
Casp1	T	C	9: 5,303,143	V199A	probably damaging	Het
Cdh13	A	T	8: 118,757,474	D158V	probably benign	Het
Cenpe	C	A	3: 135,235,076	S662*	probably null	Het
Ctnna1	A	G	18: 35,249,742	D647G	probably benign	Het
Dennd5a	C	A	7: 109,919,423	E480*	probably null	Het
Exoc6	T	A	19: 37,578,529	V258D	probably benign	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
H2-Aa	T	C	17: 34,283,842	T117A	possibly damaging	Het
Ktn1	TTGTTGTCTTTGTGTT	TTGTT	14: 47,734,097		probably benign	Het
Lig1	C	A	7: 13,306,008	T715N	probably damaging	Het
Lrrc31	C	A	3: 30,689,845		probably null	Het
Mcm6	T	C	1: 128,355,589	T60A	probably damaging	Het
Mex3c	T	A	18: 73,589,943	M369K	possibly damaging	Het
Mmp14	T	C	14: 54,439,412	Y428H	probably damaging	Het
Msh6	A	G	17: 87,986,901	D1028G	probably damaging	Het
Myo9a	T	C	9: 59,863,944	V933A	probably damaging	Het
Nepn	A	T	10: 52,401,137	D323V	probably benign	Het
Nrf1	C	T	6: 30,126,246	A150V	probably damaging	Het
Nxpe5	A	G	5: 138,239,771	T199A	probably benign	Het
Obscn	T	G	11: 59,122,848	K1150Q	probably benign	Het
Olfr1354	A	G	10: 78,917,099	I86M	possibly damaging	Het
Olfr536	A	C	7: 140,504,405	V18G	probably benign	Het
Olfr591	T	C	7: 103,172,849	T263A	probably damaging	Het
Olfr617	G	A	7: 103,584,299	W92*	probably null	Het
Olfr862	T	A	9: 19,883,976	M110L	probably benign	Het
Otop1	G	A	5: 38,294,504	G184S	possibly damaging	Het
Pkp2	G	T	16: 16,260,375	D494Y	probably damaging	Het
Pop5	G	A	5: 115,240,201	R68Q	probably damaging	Het
Ppp1r13b	T	C	12: 111,833,789	D518G	probably benign	Het
Preb	G	T	5: 30,959,963		probably benign	Het
Qrfpr	A	G	3: 36,180,965	V292A	possibly damaging	Het
Rag1	G	A	2: 101,643,792	T335I	probably damaging	Het
Rbbp6	T	A	7: 122,997,086	V617E	probably damaging	Het
Sf3a3	A	T	4: 124,714,953	D20V	probably damaging	Het
Slco1b2	A	G	6: 141,685,586	N649D	probably benign	Het
Smarcal1	A	G	1: 72,586,213	D173G	probably benign	Het
Smg7	A	G	1: 152,843,234	L914P	probably damaging	Het
Tbc1d32	A	T	10: 56,129,150	S796T	possibly damaging	Het
Tex14	A	G	11: 87,522,578	T1052A	probably benign	Het
Tspan1	A	G	4: 116,164,080	V109A	possibly damaging	Het
Ttbk2	A	G	2: 120,806,824	V51A	possibly damaging	Het
Tubgcp6	A	G	15: 89,111,150	V419A	probably benign	Het
Ubr2	G	T	17: 46,934,200	C1633*	probably null	Het
Uggt2	C	T	14: 119,089,199	G200D	possibly damaging	Het
Vmn2r25	T	C	6: 123,828,359	E513G	possibly damaging	Het
Zscan22	G	A	7: 12,906,992	G388S	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
R5420:Fmn2	UTSW	1	174698778	nonsense	probably null
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'- CCACTTCCAGGAGTGGGAATAC -3'
(R):5'- AAGGTCCAAGCTTGCTTTTG -3'

Sequencing Primer
(F):5'- TGGATCAGGCATACCCCCTC -3'
(R):5'- CCAAGCTTGCTTTTGGGTTAC -3'

Posted On

2016-10-26