Mutagenetix > Incidental Mutation

Incidental Mutation 'R4779:Fmn2'

368118

Institutional Source

Beutler Lab

Gene Symbol

Fmn2

Ensembl Gene

ENSMUSG00000028354

Gene Name

formin 2

Synonyms

MMRRC Submission

045240-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.816) question?

Stock #

R4779 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

174329391-174650295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 174437461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1144 (E1144G)

Ref Sequence

ENSEMBL: ENSMUSP00000030039 (fasta)

Gene Model

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

AlphaFold

Q9JL04

Predicted Effect

probably damaging
Transcript: ENSMUST00000030039
AA Change: E1144G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030039
Gene: ENSMUSG00000028354
AA Change: E1144G

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

unknown
Transcript: ENSMUST00000195621
AA Change: E29G

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

98% (95/97)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,667,613 (GRCm39)	S335T	unknown	Het
4933421I07Rik	T	A	7: 42,097,455 (GRCm39)	H13L	possibly damaging	Het
6030468B19Rik	A	G	11: 117,696,834 (GRCm39)	T185A	probably benign	Het
Abcc1	T	A	16: 14,228,635 (GRCm39)	V294E	probably benign	Het
Abhd16b	A	G	2: 181,135,253 (GRCm39)	T52A	possibly damaging	Het
Actl7a	A	T	4: 56,743,632 (GRCm39)	N53I	probably benign	Het
Ankmy1	T	C	1: 92,814,445 (GRCm39)	E354G	probably benign	Het
Arap1	T	C	7: 101,053,574 (GRCm39)	F1301S	probably damaging	Het
Arfgef1	A	T	1: 10,223,958 (GRCm39)	W1447R	probably damaging	Het
Atoh7	ATGGCGCT	AT	10: 62,936,187 (GRCm39)		probably benign	Het
Ccl24	T	A	5: 135,601,811 (GRCm39)	T6S	possibly damaging	Het
Cep152	G	T	2: 125,410,812 (GRCm39)	P1292Q	possibly damaging	Het
Cfap46	T	C	7: 139,239,731 (GRCm39)		probably benign	Het
Chd6	A	T	2: 160,791,477 (GRCm39)	S2627T	probably damaging	Het
Chd8	A	T	14: 52,468,963 (GRCm39)	S552T	probably damaging	Het
Ciita	C	A	16: 10,329,230 (GRCm39)	L502M	probably damaging	Het
Clic1	T	C	17: 35,271,463 (GRCm39)	F31S	probably damaging	Het
Cntnap1	T	A	11: 101,068,898 (GRCm39)	I147N	possibly damaging	Het
Cplane1	T	C	15: 8,248,322 (GRCm39)	S1624P	probably benign	Het
Crispld1	T	A	1: 17,819,831 (GRCm39)	D276E	probably benign	Het
Cspg4	A	T	9: 56,793,092 (GRCm39)	N276Y	probably damaging	Het
Cspg4b	A	T	13: 113,504,870 (GRCm39)	N2000Y	possibly damaging	Het
Cwf19l2	A	G	9: 3,410,035 (GRCm39)	M55V	possibly damaging	Het
Cyp2c69	T	C	19: 39,866,038 (GRCm39)	N185S	probably benign	Het
Dop1b	T	C	16: 93,553,969 (GRCm39)	I301T	probably damaging	Het
Epg5	T	C	18: 78,034,580 (GRCm39)	V1443A	probably benign	Het
Ephb4	T	C	5: 137,363,964 (GRCm39)	V612A	probably benign	Het
Fcgbp	T	A	7: 27,794,362 (GRCm39)	C1189S	probably damaging	Het
Fgfr2	T	G	7: 129,786,923 (GRCm39)		probably benign	Het
Fmo3	T	C	1: 162,796,407 (GRCm39)	Y55C	probably damaging	Het
Frmpd1	A	G	4: 45,229,865 (GRCm39)	T11A	probably damaging	Het
Ghdc	G	T	11: 100,660,929 (GRCm39)	Q79K	possibly damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm5591	T	C	7: 38,221,680 (GRCm39)	T130A	probably damaging	Het
Heg1	T	G	16: 33,540,142 (GRCm39)	D367E	probably benign	Het
Igkv13-84	C	T	6: 68,916,894 (GRCm39)	P64S	probably damaging	Het
Il10rb	T	A	16: 91,211,545 (GRCm39)	S128T	possibly damaging	Het
Il15ra	T	A	2: 11,723,117 (GRCm39)	I47N	probably damaging	Het
Il33	C	A	19: 29,936,311 (GRCm39)	S207*	probably null	Het
Itgb7	A	G	15: 102,132,848 (GRCm39)	Y155H	possibly damaging	Het
Kdm5a	A	G	6: 120,346,060 (GRCm39)		probably benign	Het
Kif11	G	A	19: 37,406,397 (GRCm39)	V987I	probably benign	Het
Krtap19-2	G	A	16: 88,670,762 (GRCm39)		probably benign	Het
Krtap24-1	T	A	16: 88,408,417 (GRCm39)	R236S	probably damaging	Het
L3mbtl2	A	G	15: 81,566,813 (GRCm39)	I406V	probably benign	Het
Lrp2	A	T	2: 69,290,059 (GRCm39)	H3593Q	possibly damaging	Het
Mavs	G	T	2: 131,082,285 (GRCm39)	W56C	probably damaging	Het
Mn1	C	T	5: 111,567,526 (GRCm39)	P499S	probably damaging	Het
Ntn5	T	A	7: 45,340,895 (GRCm39)	C178S	probably damaging	Het
Nufip2	A	G	11: 77,577,154 (GRCm39)	H34R	unknown	Het
Or5p51	T	A	7: 107,444,755 (GRCm39)	M62L	possibly damaging	Het
Or6f2	T	A	7: 139,756,363 (GRCm39)	L110Q	probably damaging	Het
Osbpl10	C	T	9: 114,938,598 (GRCm39)	S86L	probably damaging	Het
Pitpna	T	A	11: 75,511,153 (GRCm39)	M242K	possibly damaging	Het
Pnpla6	T	C	8: 3,572,838 (GRCm39)	V345A	probably benign	Het
Polk	A	G	13: 96,632,999 (GRCm39)		probably null	Het
Polr3k	A	G	2: 181,506,340 (GRCm39)	Y30C	probably damaging	Het
Pramel6	A	G	2: 87,339,941 (GRCm39)	H235R	probably benign	Het
Ptpra	G	A	2: 130,379,537 (GRCm39)	V364I	probably damaging	Het
Recql	A	G	6: 142,309,426 (GRCm39)		probably benign	Het
Ring1	T	C	17: 34,241,263 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Samsn1	C	A	16: 75,744,177 (GRCm39)		noncoding transcript	Het
Scara5	A	G	14: 65,968,198 (GRCm39)	H157R	probably benign	Het
Sdc3	C	T	4: 130,546,376 (GRCm39)	P245L	probably damaging	Het
Slc18b1	T	A	10: 23,696,767 (GRCm39)	M318K	possibly damaging	Het
Slc26a10	C	T	10: 127,009,224 (GRCm39)	A638T	possibly damaging	Het
Slc35f2	T	A	9: 53,717,013 (GRCm39)	W259R	possibly damaging	Het
Spata13	G	A	14: 60,991,356 (GRCm39)	W366*	probably null	Het
Sptlc3	A	G	2: 139,431,509 (GRCm39)	T344A	probably benign	Het
Tap1	T	C	17: 34,412,865 (GRCm39)	V560A	probably damaging	Het
Tbc1d1	T	C	5: 64,435,389 (GRCm39)		probably null	Het
Tlr11	A	G	14: 50,598,707 (GRCm39)	Y231C	possibly damaging	Het
Tmem245	A	T	4: 56,936,468 (GRCm39)	S230T	possibly damaging	Het
Tnnt3	C	T	7: 142,068,020 (GRCm39)		probably benign	Het
Traf7	C	G	17: 24,729,412 (GRCm39)		probably benign	Het
Tshz2	A	G	2: 169,804,601 (GRCm39)		probably benign	Het
Tshz3	T	C	7: 36,468,397 (GRCm39)	S129P	probably damaging	Het
Ttc6	A	T	12: 57,776,237 (GRCm39)	N1727I	probably damaging	Het
Ttc7b	A	G	12: 100,369,621 (GRCm39)	S383P	probably damaging	Het
Tulp3	T	A	6: 128,300,083 (GRCm39)	I448F	probably damaging	Het
Ube3b	T	C	5: 114,542,778 (GRCm39)		probably null	Het
Vav1	G	A	17: 57,603,552 (GRCm39)	V84I	probably damaging	Het
Vav3	A	T	3: 109,416,110 (GRCm39)	K243I	possibly damaging	Het
Vmn1r25	T	A	6: 57,956,011 (GRCm39)	I93F	probably damaging	Het
Vmn2r73	C	T	7: 85,520,923 (GRCm39)	W348*	probably null	Het
Zdbf2	A	G	1: 63,342,397 (GRCm39)	R259G	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
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
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'- ACCACCTCCTCTACCAGGTATG -3'
(R):5'- TTGCTCCAGGAAACACTGATG -3'

Sequencing Primer
(F):5'- GGGTTCCACCTCCCGCC -3'
(R):5'- TCCCCTGGTGGAAAGAAA -3'

Posted On

2015-12-29