Mutagenetix > Incidental Mutation

Incidental Mutation 'R0325:Fmn2'

25684

Institutional Source

Beutler Lab

Gene Symbol

Fmn2

Ensembl Gene

ENSMUSG00000028354

Gene Name

formin 2

Synonyms

MMRRC Submission

038535-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.824) question?

Stock #

R0325 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

174329391-174650295 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 174437520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9JL04

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000191971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195300

Predicted Effect

probably null
Transcript: ENSMUST00000195621

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.0%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	C	4: 144,282,081 (GRCm39)	Y237C	probably damaging	Het
Adcyap1	A	G	17: 93,510,260 (GRCm39)	D96G	probably benign	Het
Adgrv1	C	T	13: 81,688,134 (GRCm39)	V1749M	probably damaging	Het
Adnp2	A	T	18: 80,173,868 (GRCm39)	N180K	probably benign	Het
Ahdc1	G	T	4: 132,790,030 (GRCm39)	A424S	unknown	Het
Alpk3	G	A	7: 80,717,701 (GRCm39)	R86H	possibly damaging	Het
Atf7ip	A	C	6: 136,537,987 (GRCm39)	T49P	possibly damaging	Het
Atp7b	G	A	8: 22,518,467 (GRCm39)	L124F	probably benign	Het
Bub1	A	T	2: 127,643,314 (GRCm39)	L1010*	probably null	Het
Cd300c	C	A	11: 114,850,411 (GRCm39)	E131*	probably null	Het
Cep135	A	G	5: 76,763,590 (GRCm39)	K527E	probably damaging	Het
Cfd	G	T	10: 79,727,592 (GRCm39)	E89*	probably null	Het
Crb1	A	C	1: 139,168,904 (GRCm39)	C871W	probably damaging	Het
D6Ertd527e	A	T	6: 87,088,277 (GRCm39)	S147C	unknown	Het
Ddx60	A	T	8: 62,436,889 (GRCm39)	E946D	probably benign	Het
Dmrt1	G	A	19: 25,523,371 (GRCm39)	E241K	probably benign	Het
Dnah11	C	G	12: 117,976,074 (GRCm39)	V2782L	probably benign	Het
Dzip1	T	C	14: 119,146,969 (GRCm39)	I313M	probably damaging	Het
Egln3	T	C	12: 54,250,298 (GRCm39)	E17G	probably benign	Het
Eif3d	A	G	15: 77,852,420 (GRCm39)	V42A	probably damaging	Het
Elapor1	A	G	3: 108,368,567 (GRCm39)	L808P	probably damaging	Het
Eogt	C	A	6: 97,090,916 (GRCm39)	G408W	probably damaging	Het
Fip1l1	T	A	5: 74,756,503 (GRCm39)	N498K	probably damaging	Het
Fndc3b	T	C	3: 27,521,579 (GRCm39)	E532G	probably damaging	Het
Gabrb3	T	C	7: 57,415,278 (GRCm39)	L116P	probably damaging	Het
Galnt6	A	T	15: 100,591,352 (GRCm39)		probably null	Het
Glmp	G	A	3: 88,232,391 (GRCm39)	M1I	probably null	Het
Gm5478	T	C	15: 101,552,761 (GRCm39)	D79G	probably damaging	Het
Gnb1	T	G	4: 155,636,140 (GRCm39)	D153E	probably benign	Het
Grik2	T	C	10: 49,116,821 (GRCm39)	I86V	probably damaging	Het
Hdac3	C	T	18: 38,074,005 (GRCm39)		probably null	Het
Hdgfl2	G	A	17: 56,406,181 (GRCm39)	R523H	possibly damaging	Het
Ifngr1	T	A	10: 19,473,180 (GRCm39)	N43K	probably damaging	Het
Iqgap1	A	G	7: 80,401,678 (GRCm39)	W476R	probably benign	Het
Jag1	A	G	2: 136,937,365 (GRCm39)		probably null	Het
Kars1	T	C	8: 112,734,848 (GRCm39)	D46G	probably benign	Het
Kcnd2	A	G	6: 21,216,682 (GRCm39)	I129V	probably damaging	Het
Lama3	A	C	18: 12,615,183 (GRCm39)	D1369A	probably damaging	Het
Lars1	A	T	18: 42,383,967 (GRCm39)	V76E	possibly damaging	Het
Lgals9	T	C	11: 78,854,274 (GRCm39)	I337V	probably damaging	Het
Lrp1b	T	C	2: 40,741,723 (GRCm39)	D3068G	probably damaging	Het
Med12l	A	G	3: 58,984,480 (GRCm39)	T462A	possibly damaging	Het
Megf9	T	A	4: 70,374,178 (GRCm39)	D286V	probably damaging	Het
Meox1	T	A	11: 101,770,227 (GRCm39)	S167C	probably damaging	Het
Mier2	C	T	10: 79,378,430 (GRCm39)		probably null	Het
Mrps2	C	A	2: 28,359,791 (GRCm39)	T216K	probably damaging	Het
Mto1	A	T	9: 78,360,286 (GRCm39)	D258V	probably damaging	Het
Mug1	A	T	6: 121,826,801 (GRCm39)	H208L	probably benign	Het
Myo15b	T	A	11: 115,775,091 (GRCm39)	I751N	probably damaging	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Ndrg4	T	A	8: 96,437,563 (GRCm39)	M17K	probably damaging	Het
Nfrkb	T	G	9: 31,325,476 (GRCm39)	M973R	probably benign	Het
Nxph4	C	T	10: 127,362,780 (GRCm39)	R37H	probably damaging	Het
Oas1e	A	G	5: 120,933,460 (GRCm39)	I35T	probably damaging	Het
Oc90	C	T	15: 65,769,514 (GRCm39)		probably null	Het
Or4b12	A	T	2: 90,095,880 (GRCm39)	M298K	probably null	Het
Or52d3	A	T	7: 104,229,567 (GRCm39)	D238V	probably damaging	Het
Or8j3	G	A	2: 86,029,055 (GRCm39)	L14F	possibly damaging	Het
Or8k30	A	T	2: 86,339,549 (GRCm39)	T249S	probably benign	Het
Or9a7	A	T	6: 40,521,057 (GRCm39)	N285K	possibly damaging	Het
Papola	T	A	12: 105,773,452 (GRCm39)	I157N	probably damaging	Het
Pcyox1l	G	C	18: 61,830,964 (GRCm39)	P303A	possibly damaging	Het
Pkdrej	T	C	15: 85,703,752 (GRCm39)	N728S	probably benign	Het
Pkp4	A	G	2: 59,148,873 (GRCm39)	D542G	probably damaging	Het
Pla2g5	C	T	4: 138,527,967 (GRCm39)	D100N	probably benign	Het
Poln	C	T	5: 34,307,108 (GRCm39)	R31H	probably benign	Het
Ppp3ca	G	A	3: 136,640,900 (GRCm39)	A484T	probably benign	Het
Prag1	A	G	8: 36,570,958 (GRCm39)	T514A	probably benign	Het
Pramel28	A	T	4: 143,693,310 (GRCm39)	V56E	probably damaging	Het
Prex2	G	A	1: 11,270,281 (GRCm39)		probably null	Het
Prrc2b	G	T	2: 32,089,103 (GRCm39)	W403L	probably damaging	Het
Pter	A	T	2: 13,005,748 (GRCm39)	K307M	probably damaging	Het
Ptpn5	G	A	7: 46,740,506 (GRCm39)	S99L	probably benign	Het
Ptpn5	A	C	7: 46,740,507 (GRCm39)	S99A	probably benign	Het
Rpap1	A	C	2: 119,602,321 (GRCm39)	H674Q	probably benign	Het
Rph3a	A	T	5: 121,081,127 (GRCm39)	D623E	probably benign	Het
Sdr9c7	G	T	10: 127,734,588 (GRCm39)	E25D	probably benign	Het
Septin9	T	G	11: 117,247,458 (GRCm39)	V479G	probably damaging	Het
Sgo2a	A	G	1: 58,055,856 (GRCm39)	D680G	probably benign	Het
Sgo2b	A	T	8: 64,381,410 (GRCm39)	I474N	probably benign	Het
Sgsm1	A	T	5: 113,436,701 (GRCm39)	I43N	probably damaging	Het
Shprh	G	A	10: 11,045,853 (GRCm39)	M891I	probably benign	Het
Skic2	A	T	17: 35,063,791 (GRCm39)	Y551N	possibly damaging	Het
Slc12a9	A	G	5: 137,321,108 (GRCm39)	M469T	probably damaging	Het
Slc4a2	A	T	5: 24,640,941 (GRCm39)	I747F	probably damaging	Het
Slc7a6	T	A	8: 106,921,149 (GRCm39)	N373K	probably damaging	Het
Slc7a6os	T	C	8: 106,927,688 (GRCm39)	D296G	probably benign	Het
Sncaip	A	G	18: 53,038,881 (GRCm39)	T120A	probably damaging	Het
Sorcs1	G	C	19: 50,301,480 (GRCm39)		probably null	Het
Spata16	A	G	3: 26,721,605 (GRCm39)	E42G	probably damaging	Het
Spata31e2	G	T	1: 26,724,347 (GRCm39)	Q278K	possibly damaging	Het
Syne2	A	T	12: 76,009,415 (GRCm39)	M2440L	probably benign	Het
Taf7l2	T	C	10: 115,949,474 (GRCm39)	I17M	probably damaging	Het
Tead2	A	G	7: 44,875,179 (GRCm39)	E232G	probably damaging	Het
Tmf1	T	G	6: 97,153,465 (GRCm39)	T203P	possibly damaging	Het
Trrap	C	A	5: 144,753,205 (GRCm39)	H1843Q	probably benign	Het
Unc79	C	A	12: 103,137,903 (GRCm39)	Q2314K	probably damaging	Het
Unc80	G	T	1: 66,550,040 (GRCm39)	G766V	probably damaging	Het
Vmn1r217	A	G	13: 23,298,764 (GRCm39)	L46P	probably damaging	Het
Vmn2r80	A	T	10: 78,984,773 (GRCm39)	I42F	possibly damaging	Het
Vwa5a	T	C	9: 38,639,961 (GRCm39)	V403A	probably damaging	Het
Zfp42	T	C	8: 43,748,988 (GRCm39)	E171G	probably damaging	Het
Zfp64	A	T	2: 168,767,960 (GRCm39)	S551T	probably benign	Het

Other mutations in Fmn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Fmn2	APN	1	174,330,885 (GRCm39)	missense	unknown
IGL01085:Fmn2	APN	1	174,523,220 (GRCm39)	missense	probably damaging	1.00
IGL01784:Fmn2	APN	1	174,329,994 (GRCm39)	missense	unknown
IGL02095:Fmn2	APN	1	174,330,167 (GRCm39)	missense	unknown
IGL02330:Fmn2	APN	1	174,437,511 (GRCm39)	missense	probably benign	0.38
IGL02552:Fmn2	APN	1	174,523,286 (GRCm39)	missense	probably damaging	1.00
IGL02835:Fmn2	UTSW	1	174,409,625 (GRCm39)	missense	unknown
PIT4498001:Fmn2	UTSW	1	174,440,170 (GRCm39)	missense	probably damaging	1.00
PIT4677001:Fmn2	UTSW	1	174,474,699 (GRCm39)	missense	probably damaging	1.00
R0025:Fmn2	UTSW	1	174,618,880 (GRCm39)	missense	probably damaging	1.00
R0062:Fmn2	UTSW	1	174,436,015 (GRCm39)	unclassified	probably benign
R0062:Fmn2	UTSW	1	174,436,015 (GRCm39)	unclassified	probably benign
R0306:Fmn2	UTSW	1	174,437,050 (GRCm39)	unclassified	probably benign
R0403:Fmn2	UTSW	1	174,521,844 (GRCm39)	missense	probably damaging	1.00
R0491:Fmn2	UTSW	1	174,409,525 (GRCm39)	missense	unknown
R0898:Fmn2	UTSW	1	174,331,026 (GRCm39)	missense	unknown
R1202:Fmn2	UTSW	1	174,440,101 (GRCm39)	nonsense	probably null
R1719:Fmn2	UTSW	1	174,436,024 (GRCm39)	unclassified	probably benign
R1763:Fmn2	UTSW	1	174,329,832 (GRCm39)	missense	unknown
R1771:Fmn2	UTSW	1	174,436,342 (GRCm39)	unclassified	probably benign
R1777:Fmn2	UTSW	1	174,409,488 (GRCm39)	missense	unknown
R1831:Fmn2	UTSW	1	174,437,511 (GRCm39)	missense	probably benign	0.38
R2259:Fmn2	UTSW	1	174,330,498 (GRCm39)	missense	unknown
R2960:Fmn2	UTSW	1	174,437,385 (GRCm39)	missense	probably damaging	1.00
R3545:Fmn2	UTSW	1	174,330,192 (GRCm39)	missense	unknown
R3840:Fmn2	UTSW	1	174,409,599 (GRCm39)	frame shift	probably null
R4207:Fmn2	UTSW	1	174,409,521 (GRCm39)	missense	unknown
R4679:Fmn2	UTSW	1	174,330,728 (GRCm39)	missense	unknown
R4779:Fmn2	UTSW	1	174,437,461 (GRCm39)	missense	probably damaging	1.00
R4887:Fmn2	UTSW	1	174,409,527 (GRCm39)	missense	unknown
R4926:Fmn2	UTSW	1	174,329,981 (GRCm39)	missense	unknown
R5007:Fmn2	UTSW	1	174,571,866 (GRCm39)	missense	probably damaging	1.00
R5247:Fmn2	UTSW	1	174,648,794 (GRCm39)	missense	probably benign	0.04
R5324:Fmn2	UTSW	1	174,436,446 (GRCm39)	unclassified	probably benign
R5353:Fmn2	UTSW	1	174,330,572 (GRCm39)	missense	unknown
R5420:Fmn2	UTSW	1	174,526,344 (GRCm39)	nonsense	probably null
R5607:Fmn2	UTSW	1	174,437,377 (GRCm39)	missense	probably damaging	0.97
R5668:Fmn2	UTSW	1	174,409,603 (GRCm39)	missense	unknown
R5982:Fmn2	UTSW	1	174,330,019 (GRCm39)	missense	unknown
R6148:Fmn2	UTSW	1	174,494,229 (GRCm39)	missense	probably damaging	1.00
R6324:Fmn2	UTSW	1	174,440,119 (GRCm39)	missense	possibly damaging	0.87
R6466:Fmn2	UTSW	1	174,437,149 (GRCm39)	unclassified	probably benign
R6647:Fmn2	UTSW	1	174,420,670 (GRCm39)	missense	unknown
R6835:Fmn2	UTSW	1	174,527,235 (GRCm39)	missense	probably damaging	1.00
R7231:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R7340:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R7378:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R7457:Fmn2	UTSW	1	174,331,303 (GRCm39)	splice site	probably null
R7474:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R7564:Fmn2	UTSW	1	174,437,140 (GRCm39)	missense	unknown
R7582:Fmn2	UTSW	1	174,526,356 (GRCm39)	missense	probably damaging	1.00
R7748:Fmn2	UTSW	1	174,494,215 (GRCm39)	missense	probably damaging	1.00
R7832:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R8035:Fmn2	UTSW	1	174,547,437 (GRCm39)	missense	probably damaging	1.00
R8203:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R8343:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R8371:Fmn2	UTSW	1	174,437,173 (GRCm39)	missense	unknown
R8377:Fmn2	UTSW	1	174,436,011 (GRCm39)	nonsense	probably null
R8543:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R8724:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R8726:Fmn2	UTSW	1	174,437,404 (GRCm39)	missense	possibly damaging	0.86
R8891:Fmn2	UTSW	1	174,436,769 (GRCm39)	unclassified	probably benign
R9074:Fmn2	UTSW	1	174,436,198 (GRCm39)	missense	unknown
R9167:Fmn2	UTSW	1	174,331,056 (GRCm39)	missense	unknown
R9489:Fmn2	UTSW	1	174,436,194 (GRCm39)	nonsense	probably null
R9598:Fmn2	UTSW	1	174,436,308 (GRCm39)	missense	unknown
R9605:Fmn2	UTSW	1	174,436,194 (GRCm39)	nonsense	probably null
R9698:Fmn2	UTSW	1	174,364,739 (GRCm39)	missense	unknown
RF010:Fmn2	UTSW	1	174,409,581 (GRCm39)	missense	unknown
Z1176:Fmn2	UTSW	1	174,435,960 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGAGTAGCACTTTACCAGCAGCAC -3'
(R):5'- GGCAGTCAAGACCTGCAACTACAG -3'

Sequencing Primer
(F):5'- CACCTCAAGGGTGTGGATTTC -3'
(R):5'- TCTCAGACAGAGATGTAAAAATGCC -3'

Posted On

2013-04-16