Mutagenetix > Incidental Mutation

Incidental Mutation 'R9489:Fmn2'

716793

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: 0.816) question?

Stock #

R9489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

174329391-174650295 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 174436194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 722 (Q722*)

Ref Sequence

ENSEMBL: ENSMUSP00000030039 (fasta)

Gene Model

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

AlphaFold

Q9JL04

Predicted Effect

probably null
Transcript: ENSMUST00000030039
AA Change: Q722*

SMART Domains

Protein: ENSMUSP00000030039
Gene: ENSMUSG00000028354
AA Change: Q722*

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: 99.7%
20x: 99.3%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 61,002,683 (GRCm39)	S24C	probably damaging	Het
6430548M08Rik	G	A	8: 120,872,380 (GRCm39)	V103I	possibly damaging	Het
Acaca	C	T	11: 84,183,842 (GRCm39)	T1240I	probably benign	Het
Adam19	T	C	11: 46,028,449 (GRCm39)	V694A	probably benign	Het
Adipor1	A	G	1: 134,352,553 (GRCm39)	D108G	probably damaging	Het
Arhgef4	A	G	1: 34,761,745 (GRCm39)	T334A	unknown	Het
Bcl11a	T	C	11: 24,114,582 (GRCm39)	F642L	probably benign	Het
Camk2d	T	C	3: 126,561,209 (GRCm39)	Y108H	probably damaging	Het
Castor2	G	T	5: 134,164,536 (GRCm39)	V166L	probably benign	Het
Catsper1	A	G	19: 5,387,785 (GRCm39)	T355A	probably benign	Het
Ccdc69	T	A	11: 54,945,856 (GRCm39)	N50I	possibly damaging	Het
Chd8	A	T	14: 52,457,055 (GRCm39)	L971Q	probably damaging	Het
Chrna10	C	A	7: 101,762,801 (GRCm39)	A130S	probably benign	Het
Ciao1	G	A	2: 127,087,684 (GRCm39)	T217I	probably damaging	Het
Cldn1	A	T	16: 26,181,924 (GRCm39)	I95N	probably damaging	Het
Cluh	C	T	11: 74,558,772 (GRCm39)	R1253C	possibly damaging	Het
Cngb3	A	T	4: 19,505,187 (GRCm39)	Q640L	probably benign	Het
Cyp2c40	A	T	19: 39,766,443 (GRCm39)	V384D	probably damaging	Het
Cyp2d26	T	A	15: 82,674,672 (GRCm39)	M437L	probably benign	Het
Cyp2j7	T	C	4: 96,103,591 (GRCm39)	T315A	probably damaging	Het
D430041D05Rik	A	G	2: 104,087,189 (GRCm39)	S596P	probably benign	Het
Dagla	A	T	19: 10,233,053 (GRCm39)	V448D	probably damaging	Het
Ddx59	A	T	1: 136,344,594 (GRCm39)	E88D	probably benign	Het
Dnhd1	A	G	7: 105,300,804 (GRCm39)	I54V	probably benign	Het
Dnttip1	A	C	2: 164,593,162 (GRCm39)	D95A	probably benign	Het
Efna3	T	C	3: 89,222,818 (GRCm39)	T207A	probably benign	Het
Eprs1	A	C	1: 185,139,895 (GRCm39)	S995R	probably benign	Het
Eprs1	G	A	1: 185,139,896 (GRCm39)	S995N	probably benign	Het
Erbb2	T	C	11: 98,311,746 (GRCm39)	V94A	possibly damaging	Het
Etl4	A	T	2: 20,771,345 (GRCm39)	I607F	possibly damaging	Het
Ets2	G	T	16: 95,516,121 (GRCm39)	E234*	probably null	Het
Fgf6	A	C	6: 126,992,814 (GRCm39)	Y89S	probably damaging	Het
Gata3un	CGG	CG	2: 9,888,075 (GRCm39)		probably null	Het
Gdpd5	A	G	7: 99,103,031 (GRCm39)	D330G		Het
Glipr1	A	G	10: 111,832,801 (GRCm39)	S46P	probably damaging	Het
Gnptab	A	G	10: 88,268,992 (GRCm39)	Y565C	probably damaging	Het
H2-M10.2	C	T	17: 36,596,936 (GRCm39)	V47I	probably benign	Het
Heatr5b	T	A	17: 79,060,679 (GRCm39)	K1999*	probably null	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Kif9	G	A	9: 110,346,710 (GRCm39)	R616H	probably benign	Het
Krt87	G	T	15: 101,336,484 (GRCm39)	C56*	probably null	Het
Ldlr	A	G	9: 21,646,626 (GRCm39)	D264G	probably damaging	Het
Lrrk2	A	T	15: 91,621,420 (GRCm39)	D998V	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mmp9	A	G	2: 164,793,146 (GRCm39)	N432D	probably benign	Het
Mrc1	A	G	2: 14,324,110 (GRCm39)	N1149S	probably benign	Het
Mta1	A	T	12: 113,095,085 (GRCm39)	M448L	probably benign	Het
Myo1c	T	A	11: 75,559,899 (GRCm39)	V661E	probably benign	Het
Ndc1	T	C	4: 107,247,863 (GRCm39)		probably null	Het
Npy	A	C	6: 49,804,545 (GRCm39)	T89P	possibly damaging	Het
Or12e13	T	G	2: 87,663,478 (GRCm39)	F32V	probably benign	Het
Or52e19	A	G	7: 102,959,452 (GRCm39)	I175V	probably benign	Het
Or52e8	A	T	7: 104,624,856 (GRCm39)	M116K	probably damaging	Het
Or8b12i	A	G	9: 20,082,093 (GRCm39)	V258A	probably damaging	Het
Osgin2	G	T	4: 15,998,427 (GRCm39)	H398Q	probably damaging	Het
Pepd	A	C	7: 34,743,218 (GRCm39)	D419A	probably benign	Het
Pikfyve	A	T	1: 65,303,561 (GRCm39)	S1694C	probably benign	Het
Polq	A	G	16: 36,843,173 (GRCm39)	I236V	probably benign	Het
Prkag3	T	G	1: 74,786,378 (GRCm39)	Q189P	probably damaging	Het
Rab6b	A	T	9: 103,017,601 (GRCm39)	T31S	probably benign	Het
Ralgapb	C	T	2: 158,268,283 (GRCm39)	P129S	possibly damaging	Het
Ryr3	A	T	2: 112,491,966 (GRCm39)	L3795Q	probably damaging	Het
Sash1	C	T	10: 8,605,169 (GRCm39)	V1074M	probably benign	Het
Scfd2	T	C	5: 74,680,235 (GRCm39)	D306G	probably damaging	Het
Scg2	A	G	1: 79,412,936 (GRCm39)	Y556H	probably damaging	Het
Serpina3j	A	G	12: 104,286,093 (GRCm39)	N416S	probably damaging	Het
Serpinb6c	T	A	13: 34,081,421 (GRCm39)	Q76L	probably null	Het
Setd7	G	A	3: 51,450,139 (GRCm39)	Q96*	probably null	Het
Sf3b4	C	T	3: 96,080,946 (GRCm39)	R85W	probably damaging	Het
Sik3	T	A	9: 46,120,117 (GRCm39)	H735Q	probably benign	Het
Slain1	A	C	14: 103,902,112 (GRCm39)	T60P		Het
Slc36a3	T	C	11: 55,040,726 (GRCm39)	E69G	unknown	Het
Sorcs3	A	T	19: 48,711,364 (GRCm39)	Y643F	probably damaging	Het
Spta1	A	G	1: 174,035,880 (GRCm39)	Y1062C	probably damaging	Het
Ssc5d	C	T	7: 4,940,599 (GRCm39)	P904L	probably benign	Het
Stat5b	T	A	11: 100,699,276 (GRCm39)	H25L	possibly damaging	Het
Synj2	A	G	17: 6,063,794 (GRCm39)	I513V	probably benign	Het
Tenm2	T	C	11: 36,834,791 (GRCm39)	E68G	probably damaging	Het
Thsd7a	C	T	6: 12,352,022 (GRCm39)	G1058R		Het
Traf3ip2	T	A	10: 39,521,772 (GRCm39)	D443E	probably benign	Het
Traf6	G	T	2: 101,524,625 (GRCm39)	C235F	probably damaging	Het
Treh	A	G	9: 44,592,416 (GRCm39)	D47G	probably damaging	Het
Txndc16	A	T	14: 45,442,799 (GRCm39)	F132Y	probably damaging	Het
Uggt1	A	T	1: 36,273,886 (GRCm39)		probably null	Het
Usp25	A	T	16: 76,874,046 (GRCm39)	I541F	probably damaging	Het
Zfp51	A	G	17: 21,684,291 (GRCm39)	E302G	probably damaging	Het
Zfp648	A	T	1: 154,080,110 (GRCm39)	T90S	probably benign	Het
Zfp84	A	G	7: 29,476,264 (GRCm39)	T319A	possibly damaging	Het
Zkscan17	T	A	11: 59,378,037 (GRCm39)	H538L	probably damaging	Het
Zyg11a	G	T	4: 108,062,376 (GRCm39)	P142T	probably damaging	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
R0325:Fmn2	UTSW	1	174,437,520 (GRCm39)	critical splice donor site	probably null
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
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'- AACAGACCATCGAGGATCTACG -3'
(R):5'- TATCTGTTGGGCATCCAGCTG -3'

Sequencing Primer
(F):5'- GGATCTACGCACAAAAATAGCTG -3'
(R):5'- GTACTGATATTCTCCTTGGAGACAC -3'

Posted On

2022-07-18