Mutagenetix > Incidental Mutation

Incidental Mutation 'R9167:Fmn2'

696111

Institutional Source

Beutler Lab

Gene Symbol

Fmn2

Ensembl Gene

ENSMUSG00000028354

Gene Name

formin 2

Synonyms

MMRRC Submission

068946-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.774) question?

Stock #

R9167 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

174501825-174822729 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 174503490 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 482 (R482L)

Ref Sequence

ENSEMBL: ENSMUSP00000030039 (fasta)

Gene Model

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

AlphaFold

Q9JL04

Predicted Effect

unknown
Transcript: ENSMUST00000030039
AA Change: R482L

SMART Domains

Protein: ENSMUSP00000030039
Gene: ENSMUSG00000028354
AA Change: R482L

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: 99.7%
20x: 98.8%

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
Aatk	C	A	11: 120,011,126	V815F	possibly damaging	Het
Abcb4	T	A	5: 8,936,849	L756*	probably null	Het
Acrbp	T	C	6: 125,062,979	L515P	probably damaging	Het
Amot	A	T	X: 145,461,749	L435H		Het
Atic	T	A	1: 71,564,881	I201N	probably benign	Het
Avpr1b	T	C	1: 131,609,413	S312P	probably damaging	Het
Cables1	T	C	18: 11,905,972	V314A	possibly damaging	Het
Cd22	G	A	7: 30,876,005	T204I	probably benign	Het
Cep250	A	G	2: 155,987,000	N95D		Het
Ctla4	C	T	1: 60,912,536	R75W	probably damaging	Het
Cul7	A	G	17: 46,655,697	M649V	probably benign	Het
Ddx46	T	A	13: 55,655,102	V479E	probably null	Het
Dnah7a	T	C	1: 53,618,211	N802S	probably benign	Het
Fam208b	A	G	13: 3,574,724	V1742A	probably benign	Het
Fyn	T	G	10: 39,526,815	D194E	probably benign	Het
Hdac4	G	A	1: 91,947,534	T905M	probably benign	Het
Herc1	A	G	9: 66,504,618	I4707V	possibly damaging	Het
Hmgcs2	T	C	3: 98,297,114	I277T	possibly damaging	Het
Kcnj15	A	G	16: 95,295,882	D121G	probably damaging	Het
Kcnt2	A	G	1: 140,578,462	E899G	probably benign	Het
Kif16b	A	T	2: 142,700,920	L152*	probably null	Het
Krt73	A	G	15: 101,793,970	V486A	probably benign	Het
Lrrc37a	T	A	11: 103,456,832	K3012N	unknown	Het
Musk	A	T	4: 58,296,687	I96F	probably benign	Het
Myrfl	A	G	10: 116,831,545	V330A	probably damaging	Het
Nanp	A	T	2: 151,030,808	C67S	probably benign	Het
Nlrp4e	A	G	7: 23,340,526	N758S	probably benign	Het
Nrxn3	T	A	12: 89,187,298	V345D	probably damaging	Het
Nsun7	G	A	5: 66,278,651	V289I	possibly damaging	Het
Olfr646	A	G	7: 104,107,219	*313W	probably null	Het
Pde4a	T	C	9: 21,191,502	S161P	probably benign	Het
Pom121l2	C	T	13: 21,982,990	A477V	probably damaging	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,281,804		probably benign	Het
Ryr3	A	T	2: 112,834,053	I1651N	probably damaging	Het
Serpinb6e	A	G	13: 33,839,026	F125L	possibly damaging	Het
Slc2a9	T	A	5: 38,391,749	T341S	probably damaging	Het
Taf3	A	G	2: 9,940,993	V600A	probably benign	Het
Tlx2	T	A	6: 83,069,061	K211*	probably null	Het
Tmem266	A	G	9: 55,414,947	D174G	probably damaging	Het
Tpm3	T	A	3: 90,087,517	I147N	probably benign	Het
Unc93a	T	C	17: 13,116,221	K313E	possibly damaging	Het
Vmn1r9	A	C	6: 57,071,153	E71A	probably benign	Het
Vwa2	T	A	19: 56,910,631	D754E	probably benign	Het
Zfp677	T	C	17: 21,393,198	V18A	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
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
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
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'- GCAGCTCAGCTCTCCTAATCAC -3'
(R):5'- GGTAAATAACAGGCCTGGGC -3'

Sequencing Primer
(F):5'- GTCCTAGGATCAAAAAGCGGCC -3'
(R):5'- CTGGGCCTTTCAGAACGTG -3'

Posted On

2022-02-07