Mutagenetix > Incidental Mutation

Incidental Mutation 'R7748:Fmn2'

596960

Institutional Source

Beutler Lab

Gene Symbol

Fmn2

Ensembl Gene

ENSMUSG00000028354

Gene Name

formin 2

Synonyms

MMRRC Submission

045804-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.746) question?

Stock #

R7748 (G1)

Quality Score

208.009

Status

Not validated

Chromosome

Chromosomal Location

174501825-174822729 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 174666649 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1243 (V1243E)

Ref Sequence

ENSEMBL: ENSMUSP00000030039 (fasta)

Gene Model

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

AlphaFold

Q9JL04

Predicted Effect

probably damaging
Transcript: ENSMUST00000030039
AA Change: V1243E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030039
Gene: ENSMUSG00000028354
AA Change: V1243E

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

probably benign
Transcript: ENSMUST00000195621

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 131,361,792 (GRCm38)	L103F	probably benign	Het
5330417H12Rik	A	G	7: 107,624,558 (GRCm38)	L103P	unknown	Het
Actb	T	C	5: 142,904,695 (GRCm38)	I151V	probably benign	Het
Adcy6	T	A	15: 98,604,556 (GRCm38)	H59L	probably benign	Het
Adss2	G	C	1: 177,772,202 (GRCm38)	S272*	probably null	Het
Aga	A	T	8: 53,511,805 (GRCm38)	M1L	possibly damaging	Het
Ajm1	T	A	2: 25,578,959 (GRCm38)	E313D	possibly damaging	Het
Anxa5	G	A	3: 36,465,331 (GRCm38)	T3M	probably damaging	Het
Arhgap45	A	T	10: 80,016,932 (GRCm38)		probably benign	Het
Atp6v0a2	A	T	5: 124,716,496 (GRCm38)	H639L	probably benign	Het
BC005537	C	T	13: 24,803,399 (GRCm38)	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 54,884,379 (GRCm38)		probably benign	Het
Bltp1	A	G	3: 36,959,335 (GRCm38)		probably null	Het
Bod1l	A	C	5: 41,832,340 (GRCm38)	S347A	probably damaging	Het
Calcoco1	T	C	15: 102,719,561 (GRCm38)	D46G	probably damaging	Het
Camk1	T	C	6: 113,340,328 (GRCm38)	E60G	probably damaging	Het
Capza1	A	T	3: 104,825,405 (GRCm38)		probably null	Het
Ccdc18	T	A	5: 108,149,041 (GRCm38)		probably null	Het
Cdh20	G	A	1: 104,941,299 (GRCm38)	A172T	probably damaging	Het
Cdk4	C	T	10: 127,064,429 (GRCm38)	A65V	possibly damaging	Het
Cftr	T	C	6: 18,277,889 (GRCm38)		probably null	Het
Chd3	T	C	11: 69,355,633 (GRCm38)	M1092V	probably benign	Het
Chd6	A	T	2: 160,966,619 (GRCm38)	H1558Q	probably benign	Het
Chi3l1	A	G	1: 134,189,228 (GRCm38)	H318R	probably benign	Het
Cps1	A	G	1: 67,139,806 (GRCm38)	Y59C	probably damaging	Het
Cyb5r4	T	C	9: 87,032,381 (GRCm38)	V111A	probably damaging	Het
Ddx39b	G	A	17: 35,252,750 (GRCm38)	V291M	probably damaging	Het
Dhx57	A	G	17: 80,265,117 (GRCm38)	F709S	probably damaging	Het
Eef1b2	A	T	1: 63,177,865 (GRCm38)	K64N	probably damaging	Het
Eef1ece2	A	T	16: 20,633,084 (GRCm38)	D407V	probably damaging	Het
Fam135a	A	G	1: 24,028,969 (GRCm38)	S940P	probably benign	Het
Fam234b	T	A	6: 135,209,351 (GRCm38)	V119E	probably damaging	Het
Fbxo46	G	C	7: 19,136,533 (GRCm38)	C359S	probably damaging	Het
Fkbp14	C	A	6: 54,595,520 (GRCm38)		probably benign	Het
Fsbp	C	A	4: 11,579,924 (GRCm38)	T64K	probably damaging	Het
Fscb	A	T	12: 64,474,407 (GRCm38)	M95K	probably benign	Het
Fyb1	T	G	15: 6,638,826 (GRCm38)	V500G	probably damaging	Het
G2e3	A	G	12: 51,371,667 (GRCm38)	N615S	probably benign	Het
Gart	T	C	16: 91,630,652 (GRCm38)	D486G	possibly damaging	Het
Gas2l2	T	A	11: 83,422,398 (GRCm38)	D696V	probably benign	Het
Glmn	C	T	5: 107,562,244 (GRCm38)		probably null	Het
Gm47985	A	T	1: 151,182,974 (GRCm38)	D122V	probably damaging	Het
Gm7168	A	G	17: 13,948,652 (GRCm38)	K94E	probably benign	Het
Gnai2	T	C	9: 107,615,735 (GRCm38)	H323R		Het
Helz2	C	T	2: 181,234,531 (GRCm38)	R1390H	probably damaging	Het
Igf2bp1	T	C	11: 95,967,587 (GRCm38)	M453V	probably benign	Het
Ighv3-1	C	T	12: 113,964,650 (GRCm38)	V30M	probably damaging	Het
Inpp5a	A	T	7: 139,574,995 (GRCm38)	R343S	probably damaging	Het
Itga8	T	A	2: 12,230,239 (GRCm38)	I403F	possibly damaging	Het
Katnip	A	T	7: 125,829,801 (GRCm38)	M558L	probably benign	Het
Krt33a	C	T	11: 100,011,602 (GRCm38)	R404H	probably benign	Het
Krt34	T	A	11: 100,038,938 (GRCm38)	E244V	probably damaging	Het
Krt42	T	C	11: 100,266,966 (GRCm38)	E224G	probably damaging	Het
Krtap5-2	TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	TCCACAGGAACTACA	7: 142,175,108 (GRCm38)		probably benign	Het
Lama1	T	C	17: 67,750,590 (GRCm38)	L553P		Het
Lcn9	T	A	2: 25,824,914 (GRCm38)	*179K	probably null	Het
Ldaf1	A	T	7: 120,115,479 (GRCm38)	I64F	possibly damaging	Het
Lrrc2	T	G	9: 110,980,931 (GRCm38)	M345R	possibly damaging	Het
Marchf11	T	C	15: 26,387,830 (GRCm38)	V257A	probably damaging	Het
Masp2	T	C	4: 148,605,706 (GRCm38)	I224T	probably benign	Het
Mpz	A	T	1: 171,159,940 (GRCm38)		probably null	Het
Mtr	C	T	13: 12,227,839 (GRCm38)	A442T	probably benign	Het
Muc5b	A	G	7: 141,847,805 (GRCm38)	K596R	unknown	Het
Myo15a	T	G	11: 60,504,901 (GRCm38)	F1397C		Het
Ncor2	T	C	5: 125,109,967 (GRCm38)	I173V	unknown	Het
Ngly1	T	A	14: 16,290,820 (GRCm38)	I434K	possibly damaging	Het
Notch2	A	G	3: 98,138,484 (GRCm38)	H1655R	possibly damaging	Het
Notum	C	T	11: 120,654,801 (GRCm38)	A390T	probably damaging	Het
Or10a3n	T	C	7: 108,894,078 (GRCm38)	T115A	probably benign	Het
Or1e22	T	G	11: 73,486,168 (GRCm38)	I219L	probably benign	Het
Pds5a	T	A	5: 65,619,666 (GRCm38)	I51F	possibly damaging	Het
Pdzd2	C	A	15: 12,385,786 (GRCm38)	R966L	possibly damaging	Het
Plk3	T	C	4: 117,131,728 (GRCm38)	Y278C	probably damaging	Het
Plxna1	T	A	6: 89,337,353 (GRCm38)		probably null	Het
Plxna1	C	G	6: 89,337,352 (GRCm38)		probably null	Het
Ppp4r4	G	A	12: 103,605,061 (GRCm38)		probably null	Het
Pramel6	T	A	2: 87,508,699 (GRCm38)	V81E	probably damaging	Het
Prdm2	T	C	4: 143,135,889 (GRCm38)	E277G	possibly damaging	Het
Prkg1	T	A	19: 30,993,091 (GRCm38)	I222F	possibly damaging	Het
Proser3	A	T	7: 30,540,072 (GRCm38)	S536T	possibly damaging	Het
Prrt4	C	A	6: 29,177,191 (GRCm38)	G193V	probably damaging	Het
Ptpn21	A	T	12: 98,688,772 (GRCm38)	H645Q	probably benign	Het
Ptprd	T	C	4: 76,099,504 (GRCm38)	I744V	probably null	Het
Rad54l2	A	G	9: 106,719,034 (GRCm38)	V235A	possibly damaging	Het
Repin1	G	T	6: 48,597,345 (GRCm38)	E403*	probably null	Het
Rgs22	C	T	15: 36,122,269 (GRCm38)		probably null	Het
Rtcb	A	T	10: 85,941,968 (GRCm38)	D447E	probably benign	Het
Rtn1	C	T	12: 72,216,926 (GRCm38)	V744I	possibly damaging	Het
Scfd1	T	G	12: 51,389,357 (GRCm38)	I96M	probably benign	Het
Serpina3b	T	C	12: 104,130,463 (GRCm38)	M1T	probably null	Het
Slc1a4	T	C	11: 20,332,252 (GRCm38)	Y74C	probably damaging	Het
Slc9b2	A	T	3: 135,326,179 (GRCm38)	I267F	possibly damaging	Het
Sorcs2	A	T	5: 36,229,175 (GRCm38)	M173K	possibly damaging	Het
Sparc	T	C	11: 55,398,600 (GRCm38)	I226V	probably benign	Het
Spata22	T	G	11: 73,336,254 (GRCm38)	I98S	probably null	Het
Spef2	C	T	15: 9,652,945 (GRCm38)	V917M	probably damaging	Het
Sspo	C	A	6: 48,449,465 (GRCm38)	C139*	probably null	Het
Tenm4	A	G	7: 96,894,702 (GRCm38)	D2012G	probably damaging	Het
Tgm5	G	A	2: 121,052,808 (GRCm38)	R351C	probably damaging	Het
Tmem145	G	A	7: 25,307,328 (GRCm38)	W82*	probably null	Het
Topors	T	A	4: 40,262,654 (GRCm38)	D210V	probably damaging	Het
Tssk4	A	T	14: 55,651,112 (GRCm38)	H146L	probably damaging	Het
Unc93b1	T	A	19: 3,935,250 (GRCm38)	D19E	unknown	Het
Usp17lc	A	G	7: 103,418,481 (GRCm38)	T328A	probably damaging	Het
Utrn	A	G	10: 12,614,508 (GRCm38)	Y43H	probably benign	Het
Vmn1r25	T	A	6: 57,978,564 (GRCm38)	I247F	probably damaging	Het
Vmn2r78	A	T	7: 86,921,135 (GRCm38)	Q287L	probably benign	Het
Vps13c	T	A	9: 67,963,089 (GRCm38)	I3170N	probably benign	Het
Zfc3h1	T	A	10: 115,400,815 (GRCm38)	M398K	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240 (GRCm38)		probably benign	Het
Zfp773	T	C	7: 7,132,908 (GRCm38)	R230G	probably benign	Het

Other mutations in Fmn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Fmn2	APN	1	174,503,319 (GRCm38)	missense	unknown
IGL01085:Fmn2	APN	1	174,695,654 (GRCm38)	missense	probably damaging	1.00
IGL01784:Fmn2	APN	1	174,502,428 (GRCm38)	missense	unknown
IGL02095:Fmn2	APN	1	174,502,601 (GRCm38)	missense	unknown
IGL02330:Fmn2	APN	1	174,609,945 (GRCm38)	missense	probably benign	0.38
IGL02552:Fmn2	APN	1	174,695,720 (GRCm38)	missense	probably damaging	1.00
IGL02835:Fmn2	UTSW	1	174,582,059 (GRCm38)	missense	unknown
PIT4498001:Fmn2	UTSW	1	174,612,604 (GRCm38)	missense	probably damaging	1.00
PIT4677001:Fmn2	UTSW	1	174,647,133 (GRCm38)	missense	probably damaging	1.00
R0025:Fmn2	UTSW	1	174,791,314 (GRCm38)	missense	probably damaging	1.00
R0062:Fmn2	UTSW	1	174,608,449 (GRCm38)	unclassified	probably benign
R0062:Fmn2	UTSW	1	174,608,449 (GRCm38)	unclassified	probably benign
R0306:Fmn2	UTSW	1	174,609,484 (GRCm38)	unclassified	probably benign
R0325:Fmn2	UTSW	1	174,609,954 (GRCm38)	critical splice donor site	probably null
R0403:Fmn2	UTSW	1	174,694,278 (GRCm38)	missense	probably damaging	1.00
R0491:Fmn2	UTSW	1	174,581,959 (GRCm38)	missense	unknown
R0898:Fmn2	UTSW	1	174,503,460 (GRCm38)	missense	unknown
R1202:Fmn2	UTSW	1	174,612,535 (GRCm38)	nonsense	probably null
R1719:Fmn2	UTSW	1	174,608,458 (GRCm38)	unclassified	probably benign
R1763:Fmn2	UTSW	1	174,502,266 (GRCm38)	missense	unknown
R1771:Fmn2	UTSW	1	174,608,776 (GRCm38)	unclassified	probably benign
R1777:Fmn2	UTSW	1	174,581,922 (GRCm38)	missense	unknown
R1831:Fmn2	UTSW	1	174,609,945 (GRCm38)	missense	probably benign	0.38
R2259:Fmn2	UTSW	1	174,502,932 (GRCm38)	missense	unknown
R2960:Fmn2	UTSW	1	174,609,819 (GRCm38)	missense	probably damaging	1.00
R3545:Fmn2	UTSW	1	174,502,626 (GRCm38)	missense	unknown
R3840:Fmn2	UTSW	1	174,582,033 (GRCm38)	frame shift	probably null
R4207:Fmn2	UTSW	1	174,581,955 (GRCm38)	missense	unknown
R4679:Fmn2	UTSW	1	174,503,162 (GRCm38)	missense	unknown
R4779:Fmn2	UTSW	1	174,609,895 (GRCm38)	missense	probably damaging	1.00
R4887:Fmn2	UTSW	1	174,581,961 (GRCm38)	missense	unknown
R4926:Fmn2	UTSW	1	174,502,415 (GRCm38)	missense	unknown
R5007:Fmn2	UTSW	1	174,744,300 (GRCm38)	missense	probably damaging	1.00
R5247:Fmn2	UTSW	1	174,821,228 (GRCm38)	missense	probably benign	0.04
R5324:Fmn2	UTSW	1	174,608,880 (GRCm38)	unclassified	probably benign
R5353:Fmn2	UTSW	1	174,503,006 (GRCm38)	missense	unknown
R5420:Fmn2	UTSW	1	174,698,778 (GRCm38)	nonsense	probably null
R5607:Fmn2	UTSW	1	174,609,811 (GRCm38)	missense	probably damaging	0.97
R5668:Fmn2	UTSW	1	174,582,037 (GRCm38)	missense	unknown
R5982:Fmn2	UTSW	1	174,502,453 (GRCm38)	missense	unknown
R6148:Fmn2	UTSW	1	174,666,663 (GRCm38)	missense	probably damaging	1.00
R6324:Fmn2	UTSW	1	174,612,553 (GRCm38)	missense	possibly damaging	0.87
R6466:Fmn2	UTSW	1	174,609,583 (GRCm38)	unclassified	probably benign
R6647:Fmn2	UTSW	1	174,593,104 (GRCm38)	missense	unknown
R6835:Fmn2	UTSW	1	174,699,669 (GRCm38)	missense	probably damaging	1.00
R7231:Fmn2	UTSW	1	174,609,203 (GRCm38)	unclassified	probably benign
R7340:Fmn2	UTSW	1	174,609,203 (GRCm38)	unclassified	probably benign
R7378:Fmn2	UTSW	1	174,609,203 (GRCm38)	unclassified	probably benign
R7457:Fmn2	UTSW	1	174,503,737 (GRCm38)	splice site	probably null
R7474:Fmn2	UTSW	1	174,609,203 (GRCm38)	unclassified	probably benign
R7564:Fmn2	UTSW	1	174,609,574 (GRCm38)	missense	unknown
R7582:Fmn2	UTSW	1	174,698,790 (GRCm38)	missense	probably damaging	1.00
R7832:Fmn2	UTSW	1	174,609,203 (GRCm38)	unclassified	probably benign
R8035:Fmn2	UTSW	1	174,719,871 (GRCm38)	missense	probably damaging	1.00
R8203:Fmn2	UTSW	1	174,609,203 (GRCm38)	unclassified	probably benign
R8343:Fmn2	UTSW	1	174,609,203 (GRCm38)	unclassified	probably benign
R8371:Fmn2	UTSW	1	174,609,607 (GRCm38)	missense	unknown
R8377:Fmn2	UTSW	1	174,608,445 (GRCm38)	nonsense	probably null
R8543:Fmn2	UTSW	1	174,609,203 (GRCm38)	unclassified	probably benign
R8724:Fmn2	UTSW	1	174,609,203 (GRCm38)	unclassified	probably benign
R8726:Fmn2	UTSW	1	174,609,838 (GRCm38)	missense	possibly damaging	0.86
R8891:Fmn2	UTSW	1	174,609,203 (GRCm38)	unclassified	probably benign
R9074:Fmn2	UTSW	1	174,608,632 (GRCm38)	missense	unknown
R9167:Fmn2	UTSW	1	174,503,490 (GRCm38)	missense	unknown
R9489:Fmn2	UTSW	1	174,608,628 (GRCm38)	nonsense	probably null
R9598:Fmn2	UTSW	1	174,608,742 (GRCm38)	missense	unknown
R9605:Fmn2	UTSW	1	174,608,628 (GRCm38)	nonsense	probably null
R9698:Fmn2	UTSW	1	174,537,173 (GRCm38)	missense	unknown
RF010:Fmn2	UTSW	1	174,582,015 (GRCm38)	missense	unknown
Z1176:Fmn2	UTSW	1	174,608,394 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTCTGAGACACGGTCTTTGG -3'
(R):5'- GCCTTGAGAACACACATTTGCC -3'

Sequencing Primer
(F):5'- TCTTTGGACTGGGAAGAACAC -3'
(R):5'- TGAAACCCTACCTACTAAGTTCACTG -3'

Posted On

2019-11-26