Mutagenetix > Incidental Mutation

Incidental Mutation 'R8371:Fmn2'

646371

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: 0.785) question?

Stock #

R8371 (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 C at 174609607 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 1048 (L1048S)

Ref Sequence

ENSEMBL: ENSMUSP00000030039 (fasta)

Gene Model

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

AlphaFold

Q9JL04

Predicted Effect

unknown
Transcript: ENSMUST00000030039
AA Change: L1048S

SMART Domains

Protein: ENSMUSP00000030039
Gene: ENSMUSG00000028354
AA Change: L1048S

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: 99.9%
10x: 99.6%
20x: 98.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	T	11: 110,054,647	Q1050K	probably benign	Het
B4galt5	A	G	2: 167,309,225	M121T	probably damaging	Het
Birc3	A	G	9: 7,849,426	L549P	probably damaging	Het
Cacna1b	T	C	2: 24,720,024	N368S	possibly damaging	Het
Cbr1	A	G	16: 93,609,891	E165G	probably damaging	Het
Ccdc178	T	C	18: 21,811,504	D866G	possibly damaging	Het
Cd40	G	A	2: 165,066,538	G178E	probably damaging	Het
Cers1	T	A	8: 70,329,573	L349H	probably benign	Het
Chd8	T	C	14: 52,232,818	K445R	probably benign	Het
Clca3a2	G	T	3: 144,807,353	S477*	probably null	Het
Clec4a1	T	A	6: 122,933,923	*246R	probably null	Het
CN725425	T	C	15: 91,240,770	I171T	probably benign	Het
Crybg3	A	G	16: 59,557,051	M1280T	probably benign	Het
Csf1r	A	T	18: 61,117,591	Q458L	probably benign	Het
Cyp3a11	A	T	5: 145,868,628	V193E	possibly damaging	Het
Cys1	A	G	12: 24,668,695	I53T	probably benign	Het
Dhrs3	A	C	4: 144,919,383		probably null	Het
Dhx57	T	C	17: 80,275,490	R229G	probably benign	Het
Dhx9	T	C	1: 153,456,215	N1336D	unknown	Het
Dmgdh	T	A	13: 93,708,730	H410Q	probably benign	Het
Dmxl1	T	A	18: 49,898,714	M2225K	probably benign	Het
Eif4g3	T	G	4: 138,096,845	Y80D	probably damaging	Het
Ephx4	A	T	5: 107,413,518	I164F	possibly damaging	Het
Eppk1	C	T	15: 76,110,119	R854Q	probably benign	Het
Fhl4	G	A	10: 85,098,773	A48V	probably benign	Het
Gemin5	T	C	11: 58,126,558	M1212V	probably benign	Het
Gm9195	C	T	14: 72,460,459	V1294I	probably benign	Het
Gpr55	A	T	1: 85,941,127	V244E	probably damaging	Het
Hgfac	T	A	5: 35,045,443	F429Y	probably damaging	Het
Jade2	T	A	11: 51,825,132	E415D	probably benign	Het
Kcnj4	T	A	15: 79,485,141	I213F	probably damaging	Het
Kcnq5	G	A	1: 21,479,424	R360C	probably damaging	Het
Klhl33	C	T	14: 50,892,232	R312Q	probably damaging	Het
Krt82	T	C	15: 101,545,111	E280G	probably benign	Het
Lemd1	C	A	1: 132,228,949	Q40K	probably damaging	Het
Lmo7	T	C	14: 101,887,008	L423P	possibly damaging	Het
Lrp8	A	G	4: 107,869,071	Y773C	probably damaging	Het
Miga2	AAGAG	AAG	2: 30,375,743		probably null	Het
Mroh8	A	T	2: 157,252,976	Y363*	probably null	Het
Olfr135	G	A	17: 38,208,298	A18T	probably benign	Het
Olfr485	G	A	7: 108,159,228	T215I	probably benign	Het
Olfr559	C	A	7: 102,723,583	K302N	probably damaging	Het
Pcdha2	T	C	18: 36,940,263	Y316H	possibly damaging	Het
Pcdha6	T	A	18: 36,969,867	C704*	probably null	Het
Pik3c2g	G	A	6: 139,936,056	V923M	unknown	Het
Rhd	A	G	4: 134,876,383	S72G	probably benign	Het
Rhot1	T	C	11: 80,243,466	L295P	probably damaging	Het
Rrp1b	A	G	17: 32,049,484	E139G	possibly damaging	Het
Scnn1a	T	G	6: 125,343,843	Y620D	possibly damaging	Het
Serpinb12	A	T	1: 106,956,405	I294L	probably benign	Het
Serpinb3d	T	C	1: 107,080,739	D132G	probably damaging	Het
Slc26a3	A	T	12: 31,452,542	D254V	probably damaging	Het
Srrm1	A	T	4: 135,325,221	I614N	unknown	Het
Stt3b	A	G	9: 115,266,175	Y263H	probably damaging	Het
Taf7	T	A	18: 37,643,499	K5I	probably damaging	Het
Tbck	C	A	3: 132,752,524	H638Q	possibly damaging	Het
Tnfsf9	A	C	17: 57,105,541	D37A	probably benign	Het
Trim71	C	A	9: 114,515,789	V354F	probably benign	Het
Tspoap1	T	G	11: 87,778,301	C1467G	probably benign	Het
Xirp1	C	T	9: 120,019,433	R128Q	possibly damaging	Het
Zc3h12d	GCCC	GCC	10: 7,839,971		probably null	Het
Zfhx2	T	C	14: 55,064,092	D2145G	probably damaging	Het
Zfy2	T	C	Y: 2,117,168	T220A	probably benign	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
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'- TCTTCCTGGAGTGGGAATACC -3'
(R):5'- CTAATCCAAACAAGCCAGTGGG -3'

Sequencing Primer
(F):5'- TGGAGTGGGAATACCTCCTC -3'
(R):5'- AAGTGCTACTCCCAACTTGTGAGG -3'

Posted On

2020-09-02