Mutagenetix > Incidental Mutation

Incidental Mutation 'R5668:Fmn2'

442409

Institutional Source

Beutler Lab

Gene Symbol

Fmn2

Ensembl Gene

ENSMUSG00000028354

Gene Name

formin 2

Synonyms

MMRRC Submission

043311-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.785) question?

Stock #

R5668 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

174501825-174822729 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 174582037 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 612 (E612V)

Ref Sequence

ENSEMBL: ENSMUSP00000030039 (fasta)

Gene Model

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

AlphaFold

Q9JL04

Predicted Effect

unknown
Transcript: ENSMUST00000030039
AA Change: E612V

SMART Domains

Protein: ENSMUSP00000030039
Gene: ENSMUSG00000028354
AA Change: E612V

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: ENSMUST00000191821

Meta Mutation Damage Score

0.1013

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (84/85)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	G	7: 28,904,550	W429R	probably damaging	Het
Afg1l	C	T	10: 42,360,240	C272Y	probably damaging	Het
Agrn	T	C	4: 156,167,313	T1831A	probably damaging	Het
AI481877	A	G	4: 59,047,399	S1407P	probably benign	Het
Aifm2	T	C	10: 61,725,917	V14A	probably damaging	Het
Angptl3	A	T	4: 99,032,084		probably null	Het
Arfgap1	A	T	2: 180,974,119	D197V	possibly damaging	Het
Atp1a3	T	C	7: 24,978,869		probably benign	Het
BC003965	G	A	17: 25,184,989	S101N	probably damaging	Het
BC067074	A	G	13: 113,317,167	S55G	possibly damaging	Het
Brwd1	T	C	16: 96,016,150	I1387M	probably damaging	Het
Cavin4	A	G	4: 48,672,499	T315A	probably benign	Het
Cep128	T	C	12: 90,999,636	T1066A	probably benign	Het
Cln3	T	C	7: 126,572,386	T376A	probably benign	Het
Cntn4	A	T	6: 106,679,436		silent	Het
Colec12	T	A	18: 9,848,963	D380E	probably damaging	Het
Csmd3	T	C	15: 47,695,755	I2371V	possibly damaging	Het
Cxcl3	T	C	5: 90,787,440	S99P	unknown	Het
Ddx60	A	G	8: 62,000,578	R1244G	probably benign	Het
Dhx38	T	C	8: 109,553,416	D914G	probably damaging	Het
Dlc1	T	G	8: 36,937,501		probably benign	Het
Fam161b	A	G	12: 84,356,350	S169P	probably damaging	Het
Fastkd1	A	G	2: 69,707,381	S286P	possibly damaging	Het
Foxb1	T	A	9: 69,760,246	M1L	probably damaging	Het
Gm14412	A	T	2: 177,315,609	C164*	probably null	Het
Gm43302	T	A	5: 105,275,812	M432L	probably benign	Het
Gm4353	C	A	7: 116,083,678	A223S	probably damaging	Het
Gm884	T	A	11: 103,617,054		probably benign	Het
Gm8994	A	T	6: 136,329,395	I264F	probably benign	Het
Gpatch8	T	C	11: 102,500,867	K143R	unknown	Het
Gpr15	A	G	16: 58,717,650	S359P	probably damaging	Het
Gucy2e	A	G	11: 69,228,381	L649P	probably damaging	Het
H2-M10.5	C	A	17: 36,774,581	H211N	probably damaging	Het
Hs6st1	T	C	1: 36,103,889	Y302H	probably damaging	Het
Khdrbs2	A	T	1: 32,467,770	D165V	probably damaging	Het
Klra13-ps	T	G	6: 130,304,283		noncoding transcript	Het
Lrrc37a	T	A	11: 103,500,175	T1475S	probably benign	Het
Ly75	A	G	2: 60,354,500	S437P	probably damaging	Het
Maz	C	T	7: 127,025,322	C342Y	probably damaging	Het
Mcf2l	C	A	8: 13,013,812	S1008*	probably null	Het
Mcmbp	T	C	7: 128,712,754	D246G	probably benign	Het
Mipol1	G	A	12: 57,325,560	R135H	possibly damaging	Het
Mycbp2	T	A	14: 103,120,519	Y4613F	possibly damaging	Het
Nup188	G	A	2: 30,336,324	A1118T	probably damaging	Het
Olfr1226	A	T	2: 89,193,826	D69E	possibly damaging	Het
Olfr1249	G	A	2: 89,630,344	L185F	probably damaging	Het
Olfr1427	A	G	19: 12,098,926	S238P	probably damaging	Het
Olfr267	T	A	4: 58,785,489	I78F	probably benign	Het
Olfr573-ps1	T	C	7: 102,941,921	K219E	probably benign	Het
Olfr585	A	T	7: 103,097,896	S52C	probably benign	Het
Olfr981	A	T	9: 40,022,668	I92F	probably damaging	Het
P3h1	T	A	4: 119,244,046	I460N	possibly damaging	Het
Pcnt	T	C	10: 76,409,500	D1101G	probably benign	Het
Phlpp2	C	A	8: 109,928,573	Q667K	possibly damaging	Het
Plec	A	G	15: 76,190,466	F434L	possibly damaging	Het
Ppp6r2	T	A	15: 89,280,399	I602N	probably damaging	Het
Rdh8	A	C	9: 20,825,179	I181L	probably benign	Het
Rnf181	A	G	6: 72,361,522	M1T	probably null	Het
Rpl29-ps2	A	G	13: 4,614,222		noncoding transcript	Het
Sart3	A	G	5: 113,745,156		probably null	Het
Sec14l2	A	C	11: 4,109,189	L160R	probably damaging	Het
Senp1	C	T	15: 98,048,355	R503H	probably damaging	Het
Slc22a2	T	C	17: 12,608,409	V316A	probably benign	Het
Slc34a1	A	T	13: 55,409,085	I365F	possibly damaging	Het
Spag5	T	C	11: 78,304,716	V283A	possibly damaging	Het
Srebf2	C	T	15: 82,192,255	T702I	probably benign	Het
Sun3	A	G	11: 9,031,433		probably null	Het
Syt6	A	G	3: 103,620,901	Y312C	probably damaging	Het
Tas2r121	T	A	6: 132,700,793	Y72F	possibly damaging	Het
Tfrc	A	G	16: 32,623,376	Y473C	probably damaging	Het
Trp63	C	T	16: 25,866,185	A274V	possibly damaging	Het
Trpm5	T	C	7: 143,073,229	D1085G	probably benign	Het
Ttn	A	G	2: 76,914,664	V5347A	probably benign	Het
Vma21-ps	T	A	4: 52,496,946	Q100L	possibly damaging	Het
Vmn2r22	T	C	6: 123,637,914	N239S	probably benign	Het
Wfdc8	T	C	2: 164,597,419		probably benign	Het
Xkr4	T	A	1: 3,671,035	Y105F	probably damaging	Het
Xpo7	C	T	14: 70,682,846	V627I	possibly damaging	Het
Zfp606	T	C	7: 12,492,552	V200A	probably benign	Het
Zfp936	A	T	7: 43,190,434	S441C	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
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'- TCGTCCTCCAAGTAGACAGACC -3'
(R):5'- AGGCTTCCCGTTGATTTTAATAGG -3'

Sequencing Primer
(F):5'- CCAAGTAGACAGACCTAGGTTTTAC -3'
(R):5'- ATTTTAATAGGTTGCAGGCAGGAG -3'

Posted On

2016-11-09