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: 0.816) question?

Stock #

R9167 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

174329391-174650295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 174331056 bp (GRCm39)

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: 119,901,952 (GRCm39)	V815F	possibly damaging	Het
Abcb4	T	A	5: 8,986,849 (GRCm39)	L756*	probably null	Het
Acrbp	T	C	6: 125,039,942 (GRCm39)	L515P	probably damaging	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Atic	T	A	1: 71,604,040 (GRCm39)	I201N	probably benign	Het
Avpr1b	T	C	1: 131,537,151 (GRCm39)	S312P	probably damaging	Het
Cables1	T	C	18: 12,039,029 (GRCm39)	V314A	possibly damaging	Het
Cd22	G	A	7: 30,575,430 (GRCm39)	T204I	probably benign	Het
Cep250	A	G	2: 155,828,920 (GRCm39)	N95D		Het
Ctla4	C	T	1: 60,951,695 (GRCm39)	R75W	probably damaging	Het
Cul7	A	G	17: 46,966,623 (GRCm39)	M649V	probably benign	Het
Ddx46	T	A	13: 55,802,915 (GRCm39)	V479E	probably null	Het
Dnah7a	T	C	1: 53,657,370 (GRCm39)	N802S	probably benign	Het
Fyn	T	G	10: 39,402,811 (GRCm39)	D194E	probably benign	Het
Hdac4	G	A	1: 91,875,256 (GRCm39)	T905M	probably benign	Het
Herc1	A	G	9: 66,411,900 (GRCm39)	I4707V	possibly damaging	Het
Hmgcs2	T	C	3: 98,204,430 (GRCm39)	I277T	possibly damaging	Het
Kcnj15	A	G	16: 95,096,741 (GRCm39)	D121G	probably damaging	Het
Kcnt2	A	G	1: 140,506,200 (GRCm39)	E899G	probably benign	Het
Kif16b	A	T	2: 142,542,840 (GRCm39)	L152*	probably null	Het
Krt73	A	G	15: 101,702,405 (GRCm39)	V486A	probably benign	Het
Lrrc37a	T	A	11: 103,347,658 (GRCm39)	K3012N	unknown	Het
Musk	A	T	4: 58,296,687 (GRCm39)	I96F	probably benign	Het
Myrfl	A	G	10: 116,667,450 (GRCm39)	V330A	probably damaging	Het
Nanp	A	T	2: 150,872,728 (GRCm39)	C67S	probably benign	Het
Nlrp4e	A	G	7: 23,039,951 (GRCm39)	N758S	probably benign	Het
Nrxn3	T	A	12: 89,154,068 (GRCm39)	V345D	probably damaging	Het
Nsun7	G	A	5: 66,435,994 (GRCm39)	V289I	possibly damaging	Het
Or52d1	A	G	7: 103,756,426 (GRCm39)	*313W	probably null	Het
Pde4a	T	C	9: 21,102,798 (GRCm39)	S161P	probably benign	Het
Pom121l2	C	T	13: 22,167,160 (GRCm39)	A477V	probably damaging	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Ryr3	A	T	2: 112,664,398 (GRCm39)	I1651N	probably damaging	Het
Serpinb6e	A	G	13: 34,023,009 (GRCm39)	F125L	possibly damaging	Het
Slc2a9	T	A	5: 38,549,092 (GRCm39)	T341S	probably damaging	Het
Taf3	A	G	2: 9,945,804 (GRCm39)	V600A	probably benign	Het
Tasor2	A	G	13: 3,624,724 (GRCm39)	V1742A	probably benign	Het
Tlx2	T	A	6: 83,046,042 (GRCm39)	K211*	probably null	Het
Tmem266	A	G	9: 55,322,231 (GRCm39)	D174G	probably damaging	Het
Tpm3	T	A	3: 89,994,824 (GRCm39)	I147N	probably benign	Het
Unc93a	T	C	17: 13,335,108 (GRCm39)	K313E	possibly damaging	Het
Vmn1r9	A	C	6: 57,048,138 (GRCm39)	E71A	probably benign	Het
Vwa2	T	A	19: 56,899,063 (GRCm39)	D754E	probably benign	Het
Zfp677	T	C	17: 21,613,460 (GRCm39)	V18A	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
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'- GCAGCTCAGCTCTCCTAATCAC -3'
(R):5'- GGTAAATAACAGGCCTGGGC -3'

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

Posted On

2022-02-07