Mutagenetix > Incidental Mutation

Incidental Mutation 'R0403:Fmn2'

35657

Institutional Source

Beutler Lab

Gene Symbol

Fmn2

Ensembl Gene

ENSMUSG00000028354

Gene Name

formin 2

Synonyms

MMRRC Submission

038608-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.816) question?

Stock #

R0403 (G1)

Quality Score

131

Status

Validated

Chromosome

Chromosomal Location

174329391-174650295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 174521844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1292 (Q1292L)

Ref Sequence

ENSEMBL: ENSMUSP00000030039 (fasta)

Gene Model

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

AlphaFold

Q9JL04

Predicted Effect

probably damaging
Transcript: ENSMUST00000030039
AA Change: Q1292L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030039
Gene: ENSMUSG00000028354
AA Change: Q1292L

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

unknown
Transcript: ENSMUST00000195621
AA Change: Q127L

Meta Mutation Damage Score

0.3644

Coding Region Coverage

1x: 98.0%
3x: 96.8%
10x: 93.2%
20x: 83.7%

Validation Efficiency

97% (110/113)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,864,706 (GRCm39)		probably null	Het
Adgrg3	C	T	8: 95,763,550 (GRCm39)	L284F	probably benign	Het
Alkbh8	T	A	9: 3,385,469 (GRCm39)	V587E	probably damaging	Het
Ap4b1	T	A	3: 103,728,712 (GRCm39)	M590K	probably benign	Het
Ap4b1	T	A	3: 103,726,155 (GRCm39)	C244S	probably damaging	Het
Arhgap15	C	T	2: 43,953,778 (GRCm39)	T168I	probably damaging	Het
Atp8b1	A	G	18: 64,673,381 (GRCm39)	V997A	probably damaging	Het
Atrn	G	A	2: 130,748,779 (GRCm39)	C100Y	probably damaging	Het
Baiap2l2	C	A	15: 79,155,416 (GRCm39)	A151S	probably benign	Het
Baz2b	A	T	2: 59,799,721 (GRCm39)	D199E	possibly damaging	Het
Bmal2	T	A	6: 146,724,153 (GRCm39)	H348Q	probably damaging	Het
Cblb	A	G	16: 51,972,989 (GRCm39)	D440G	probably benign	Het
Cdon	T	C	9: 35,384,796 (GRCm39)	V694A	probably benign	Het
Cep250	A	T	2: 155,834,269 (GRCm39)	R2065W	probably damaging	Het
Ces2b	G	T	8: 105,560,577 (GRCm39)	A131S	probably damaging	Het
Chrna9	A	T	5: 66,125,235 (GRCm39)	T59S	possibly damaging	Het
Cog3	T	A	14: 75,979,767 (GRCm39)		probably benign	Het
Cpa1	G	A	6: 30,641,856 (GRCm39)	V227I	probably benign	Het
Cyp3a25	A	T	5: 145,935,323 (GRCm39)	C98S	probably damaging	Het
D8Ertd738e	C	T	8: 84,976,230 (GRCm39)		probably null	Het
Ddx60	A	G	8: 62,447,575 (GRCm39)		probably benign	Het
Dhx16	T	C	17: 36,193,942 (GRCm39)		probably null	Het
Dnah9	T	A	11: 65,975,615 (GRCm39)	Q1478L	possibly damaging	Het
Dock10	T	C	1: 80,501,787 (GRCm39)	Y1434C	possibly damaging	Het
Enpp3	T	A	10: 24,680,334 (GRCm39)	D325V	probably damaging	Het
Entpd6	C	A	2: 150,602,090 (GRCm39)	T194K	possibly damaging	Het
Fat2	A	T	11: 55,161,175 (GRCm39)	V3185E	probably benign	Het
Flrt1	A	G	19: 7,073,284 (GRCm39)	L421P	probably benign	Het
Fndc1	T	C	17: 7,972,555 (GRCm39)	D1459G	probably damaging	Het
Fndc1	T	C	17: 7,994,420 (GRCm39)		probably null	Het
Fzr1	A	G	10: 81,205,202 (GRCm39)	S265P	possibly damaging	Het
Gpr142	G	A	11: 114,696,855 (GRCm39)	V134M	probably damaging	Het
Grid2ip	G	T	5: 143,343,375 (GRCm39)	V24L	possibly damaging	Het
Herc2	G	A	7: 55,809,165 (GRCm39)	R2555H	probably damaging	Het
Hpdl	A	T	4: 116,677,676 (GRCm39)	Y262N	possibly damaging	Het
Htr3a	A	G	9: 48,819,959 (GRCm39)	V57A	probably damaging	Het
Igfbp7	T	C	5: 77,503,438 (GRCm39)	I186V	probably benign	Het
Itga2b	C	T	11: 102,358,152 (GRCm39)		probably null	Het
Itgae	A	C	11: 73,014,009 (GRCm39)	D736A	possibly damaging	Het
Itpkc	T	A	7: 26,907,770 (GRCm39)	M645L	probably benign	Het
Jchain	T	C	5: 88,669,237 (GRCm39)	R139G	probably benign	Het
Kif13a	A	G	13: 46,944,877 (GRCm39)	V908A	probably damaging	Het
Kif1b	T	A	4: 149,266,424 (GRCm39)	K389*	probably null	Het
Klhl12	T	C	1: 134,413,594 (GRCm39)	Y360H	possibly damaging	Het
Knop1	G	A	7: 118,452,276 (GRCm39)	R148W	probably damaging	Het
Lpar1	T	A	4: 58,487,191 (GRCm39)	N27Y	probably damaging	Het
Lpar2	T	A	8: 70,276,802 (GRCm39)	V197D	probably damaging	Het
Lrrc74a	A	G	12: 86,787,753 (GRCm39)	N128S	probably damaging	Het
Lum	G	T	10: 97,407,905 (GRCm39)	V337F	probably benign	Het
Mag	T	C	7: 30,606,405 (GRCm39)	D344G	probably damaging	Het
Maip1	G	A	1: 57,446,355 (GRCm39)	A142T	probably benign	Het
Mlh3	A	G	12: 85,315,742 (GRCm39)	V148A	possibly damaging	Het
Nav3	A	G	10: 109,602,964 (GRCm39)	V1195A	probably damaging	Het
Ncor2	A	G	5: 125,110,401 (GRCm39)	S868P	possibly damaging	Het
Nek1	A	G	8: 61,559,889 (GRCm39)	E907G	probably damaging	Het
Nfam1	G	A	15: 82,900,580 (GRCm39)	T134I	probably benign	Het
Nr0b2	T	C	4: 133,281,070 (GRCm39)	V112A	probably damaging	Het
Nrp1	A	G	8: 129,184,450 (GRCm39)	N365S	probably damaging	Het
Nrsn2	T	C	2: 152,211,710 (GRCm39)	Y107C	probably damaging	Het
Ntng1	G	A	3: 109,841,927 (GRCm39)	A282V	probably damaging	Het
Nxf1	T	C	19: 8,742,392 (GRCm39)	I337T	probably damaging	Het
Obscn	C	T	11: 58,967,366 (GRCm39)	G479D	probably damaging	Het
Oprd1	T	A	4: 131,841,079 (GRCm39)	D293V	probably benign	Het
Or13a17	T	C	7: 140,271,222 (GRCm39)	S135P	possibly damaging	Het
P3h2	T	G	16: 25,788,700 (GRCm39)	N586H	possibly damaging	Het
Pcid2	T	C	8: 13,135,367 (GRCm39)	Y214C	probably damaging	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 110,350,295 (GRCm39)	S380N	probably benign	Het
Ppic	C	A	18: 53,544,143 (GRCm39)	G81W	probably damaging	Het
Ppp2r1a	C	A	17: 21,177,303 (GRCm39)	P246T	probably damaging	Het
Ppp4r4	T	G	12: 103,550,361 (GRCm39)	S46A	probably benign	Het
Pramel31	A	G	4: 144,089,216 (GRCm39)	N178S	probably benign	Het
Prkce	A	G	17: 86,476,081 (GRCm39)	T21A	probably damaging	Het
Prkg2	T	C	5: 99,142,504 (GRCm39)	E210G	possibly damaging	Het
Prss35	A	G	9: 86,638,090 (GRCm39)	M287V	probably damaging	Het
Psd	G	A	19: 46,309,411 (GRCm39)		probably benign	Het
Ptch2	A	T	4: 116,968,036 (GRCm39)	K843*	probably null	Het
Rab44	C	A	17: 29,364,235 (GRCm39)	T603K	probably damaging	Het
Rasal3	T	A	17: 32,611,764 (GRCm39)		probably null	Het
Rbbp6	A	G	7: 122,591,519 (GRCm39)	T526A	probably damaging	Het
Ros1	A	T	10: 52,019,534 (GRCm39)		probably benign	Het
Sec24b	T	A	3: 129,783,325 (GRCm39)	L1104F	possibly damaging	Het
Sec24b	A	G	3: 129,793,183 (GRCm39)	S685P	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Setmar	A	T	6: 108,052,923 (GRCm39)	H139L	probably benign	Het
Slc28a2b	T	C	2: 122,352,335 (GRCm39)	L364S	probably damaging	Het
Slc4a7	T	C	14: 14,766,808 (GRCm38)	V710A	probably benign	Het
Smarcc1	T	A	9: 110,066,876 (GRCm39)		probably null	Het
Smchd1	G	A	17: 71,701,897 (GRCm39)	L1032F	probably damaging	Het
Speg	T	C	1: 75,407,428 (GRCm39)		probably benign	Het
Tasor2	A	T	13: 3,632,052 (GRCm39)	Y816*	probably null	Het
Tcea1	C	G	1: 4,959,726 (GRCm39)	R134G	probably benign	Het
Tchhl1	C	T	3: 93,378,336 (GRCm39)	Q347*	probably null	Het
Tecrl	A	T	5: 83,502,605 (GRCm39)		probably benign	Het
Tepsin	T	C	11: 119,984,508 (GRCm39)		probably benign	Het
Tmem40	G	A	6: 115,710,946 (GRCm39)		probably benign	Het
Tpr	G	A	1: 150,283,165 (GRCm39)		probably benign	Het
Ttll12	A	T	15: 83,464,859 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,739,952 (GRCm39)	D3529V	probably benign	Het
Usp34	T	A	11: 23,283,838 (GRCm39)	H177Q	possibly damaging	Het
Vsig10	T	A	5: 117,476,526 (GRCm39)	S327T	probably benign	Het
Zbtb4	T	A	11: 69,668,465 (GRCm39)	M396K	probably damaging	Het
Zfp352	C	T	4: 90,113,246 (GRCm39)	T462I	possibly damaging	Het
Zfp385b	T	C	2: 77,307,189 (GRCm39)	M145V	probably damaging	Het
Zfp780b	C	A	7: 27,671,114 (GRCm39)	V65F	possibly 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
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'- AGTCAAGTGTTACCACAGCAGATGC -3'
(R):5'- GCGACAGCTCATACAGGAACCTAAG -3'

Sequencing Primer
(F):5'- GATGGCCTCGAAGAGTTTTG -3'
(R):5'- GCTCATACAGGAACCTAAGGAGAC -3'

Posted On

2013-05-09