Mutagenetix > Incidental Mutation

Incidental Mutation 'R7340:Fmn2'

569742

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: 0.824) question?

Stock #

R7340 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

174501825-174822729 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC to CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC at 174609203 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9JL04

Predicted Effect

probably benign
Transcript: ENSMUST00000030039

SMART Domains

Protein: ENSMUSP00000030039
Gene: ENSMUSG00000028354

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: 99.7%
20x: 99.1%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	G	7: 131,277,615	T1788A	unknown	Het
Abcb11	C	T	2: 69,299,867	D282N	probably damaging	Het
Adam30	A	T	3: 98,162,321	N490I	probably benign	Het
Ankrd55	A	T	13: 112,355,963	I223F	probably damaging	Het
Ano8	T	A	8: 71,483,011	E321V	probably damaging	Het
Apc2	A	G	10: 80,313,482	K1457E	probably benign	Het
Asb15	T	A	6: 24,558,514	V38E	probably benign	Het
Atp4a	T	C	7: 30,716,730	S417P	possibly damaging	Het
AY358078	A	G	14: 51,826,259	N454S	probably damaging	Het
Cables2	A	G	2: 180,261,657	Y245H		Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,321,318		probably benign	Het
Camsap3	G	A	8: 3,587,960		probably null	Het
Ccdc178	A	T	18: 22,017,461	V705E	probably benign	Het
Ccdc47	T	C	11: 106,200,973	Q472R	possibly damaging	Het
Ccdc62	A	G	5: 123,951,220	D307G	probably damaging	Het
Cd3eap	T	C	7: 19,359,148	T36A	probably benign	Het
Cdh23	A	G	10: 60,530,996	I235T	probably benign	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Cfap65	T	C	1: 74,921,583	N743D	probably benign	Het
Clec16a	A	G	16: 10,580,963	N329S	probably null	Het
Col25a1	A	G	3: 130,546,357		probably null	Het
Daam1	T	G	12: 71,988,939	D969E	probably benign	Het
Dntt	A	C	19: 41,058,565		probably null	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
Dst	T	A	1: 34,190,729	Y2468N	probably benign	Het
Exosc9	A	G	3: 36,561,148	T262A	possibly damaging	Het
Exph5	G	A	9: 53,377,009	A1797T	probably damaging	Het
Fbp2	A	T	13: 62,837,247	Y287N	probably damaging	Het
Fus	T	A	7: 127,981,951		probably null	Het
Galnt9	T	A	5: 110,614,188	N397K	probably damaging	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gga1	A	G	15: 78,891,451	T369A	probably benign	Het
Gp1ba	T	C	11: 70,640,293	I295T	unknown	Het
Hk2	T	C	6: 82,728,892	E810G	probably benign	Het
Igsf10	A	G	3: 59,325,768	V1848A	probably damaging	Het
Insrr	G	A	3: 87,814,316		probably null	Het
Ip6k3	T	A	17: 27,148,530	M231L	probably benign	Het
Itgb8	T	C	12: 119,192,204	N171S	probably benign	Het
Ldlrad3	T	C	2: 102,066,839		probably null	Het
Ltbp1	T	A	17: 75,327,228	C886*	probably null	Het
Mettl13	T	C	1: 162,538,978	D444G	probably benign	Het
Mgea5	G	A	19: 45,767,456	Q583*	probably null	Het
Mns1	A	G	9: 72,448,743	Y224C	probably damaging	Het
Mri1	C	T	8: 84,256,896	R122Q	probably benign	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myo5c	A	C	9: 75,289,141	K1290Q	probably benign	Het
Nlrp12	T	G	7: 3,233,125	Q842H	possibly damaging	Het
Odf3b	T	A	15: 89,378,407	T116S	probably benign	Het
Olfr1167	T	C	2: 88,149,276	T248A	possibly damaging	Het
Olfr301	T	C	7: 86,412,749	L129P	possibly damaging	Het
Olfr31	A	T	14: 14,328,401	T97S	possibly damaging	Het
Olfr761	T	A	17: 37,952,522	R167S	probably benign	Het
Otoa	A	G	7: 121,130,065	T554A	probably benign	Het
Per1	A	G	11: 69,103,182	D438G	probably damaging	Het
Phactr3	G	A	2: 178,334,061	R533H	probably damaging	Het
Phykpl	T	C	11: 51,599,543	F417S	probably damaging	Het
Pole	A	T	5: 110,334,464	T2057S	probably benign	Het
Polq	A	G	16: 37,060,926	T1151A	probably benign	Het
Rbm26	A	T	14: 105,152,540	V216E	possibly damaging	Het
Ryk	T	C	9: 102,898,538	I449T	probably damaging	Het
Sap25	A	G	5: 137,642,673	T225A	probably benign	Het
Sart3	A	G	5: 113,744,667	M864T	probably benign	Het
Sec31b	T	C	19: 44,528,722	S280G	probably benign	Het
Sema4d	A	T	13: 51,723,562	I78N	probably damaging	Het
Sgip1	G	C	4: 102,921,464	R419S	unknown	Het
Slc13a3	T	C	2: 165,430,290	I278V	probably benign	Het
Slc2a5	A	G	4: 150,139,982	D312G	probably benign	Het
Slc39a2	A	T	14: 51,894,203	Q77L	possibly damaging	Het
Srbd1	A	T	17: 86,136,354	V148E	probably benign	Het
Syngr2	A	G	11: 117,812,496	E46G	probably damaging	Het
Taok1	A	G	11: 77,579,817	V54A	possibly damaging	Het
Tas2r106	T	A	6: 131,678,222	H222L	probably damaging	Het
Tcaf3	A	G	6: 42,589,914	I747T	probably benign	Het
Tmem151b	G	T	17: 45,545,269	P415Q	probably benign	Het
Tmf1	T	C	6: 97,168,100	D659G	possibly damaging	Het
Tnn	G	T	1: 160,146,022	D258E	probably damaging	Het
Traj33	A	G	14: 54,185,405	I16V	unknown	Het
Ttll13	G	T	7: 80,257,024	C480F	probably damaging	Het
Ttn	T	C	2: 76,884,071	N8137S	unknown	Het
Vmn1r85	T	C	7: 13,085,146	N24D	probably damaging	Het
Wdr81	T	C	11: 75,444,699	Q649R	probably null	Het
Zan	T	C	5: 137,383,830	T5152A	unknown	Het
Zc3h6	A	G	2: 128,993,190	D82G	possibly 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
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
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'- GAGTCCTCCAGTTTCATGCCTG -3'
(R):5'- GGTATTCCCACTCCAGGAAGAG -3'

Sequencing Primer
(F):5'- CAGTTTCATGCCTGGCCTGG -3'
(R):5'- GGTATTCCCACTCCAGGAAGAG -3'

Posted On

2019-09-13