Mutagenetix > Incidental Mutations

Incidental Mutation 'R4720:Fmnl2'

354347

Institutional Source

Beutler Lab

Gene Symbol

Fmnl2

Ensembl Gene

ENSMUSG00000036053

Gene Name

formin-like 2

Synonyms

5430425K04Rik, man

MMRRC Submission

041958-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4720 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52857860-53133804 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53107540 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 501 (T501M)

Ref Sequence

ENSEMBL: ENSMUSP00000118658 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049483] [ENSMUST00000050719] [ENSMUST00000090952] [ENSMUST00000127122] [ENSMUST00000155586]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049483
AA Change: T501M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047260
Gene: ENSMUSG00000036053
AA Change: T501M

Domain	Start	End	E-Value	Type
Drf_GBD	23	275	1.19e-96	SMART
Drf_FH3	278	482	8.68e-76	SMART
low complexity region	518	540	N/A	INTRINSIC
SCOP:d1jvr__	549	588	8e-3	SMART
FH2	615	1052	1.66e-124	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000050719
AA Change: T501M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000057084
Gene: ENSMUSG00000036053
AA Change: T501M

Domain	Start	End	E-Value	Type
Drf_GBD	23	275	1.19e-96	SMART
Drf_FH3	278	482	8.68e-76	SMART
low complexity region	518	540	N/A	INTRINSIC
low complexity region	549	568	N/A	INTRINSIC
FH2	581	1018	1.66e-124	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090952
AA Change: T501M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000088472
Gene: ENSMUSG00000036053
AA Change: T501M

Domain	Start	End	E-Value	Type
Drf_GBD	23	275	1.19e-96	SMART
Drf_FH3	278	482	8.68e-76	SMART
low complexity region	518	540	N/A	INTRINSIC
SCOP:d1jvr__	549	588	6e-3	SMART
FH2	615	1052	1.66e-124	SMART
low complexity region	1063	1075	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000127122
AA Change: T501M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118658
Gene: ENSMUSG00000036053
AA Change: T501M

Domain	Start	End	E-Value	Type
Drf_GBD	23	275	1.19e-96	SMART
Drf_FH3	278	482	8.68e-76	SMART
low complexity region	518	540	N/A	INTRINSIC
SCOP:d1jvr__	549	588	7e-3	SMART
FH2	615	1052	1.66e-124	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000155586
AA Change: T501M

SMART Domains

Protein: ENSMUSP00000117822
Gene: ENSMUSG00000036053
AA Change: T501M

Domain	Start	End	E-Value	Type
Pfam:FH2	1	131	2e-33	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,127,422	I1124T	probably damaging	Het
Acacb	A	G	5: 114,229,914	T1658A	possibly damaging	Het
Acvrl1	C	A	15: 101,135,773	P112Q	probably damaging	Het
Als2cr12	T	C	1: 58,678,348	I135V	possibly damaging	Het
Ankar	A	T	1: 72,699,011	I4K	possibly damaging	Het
Ankfn1	G	C	11: 89,441,426	D431E	possibly damaging	Het
Apobec4	T	C	1: 152,756,674	V151A	possibly damaging	Het
Atp10b	A	G	11: 43,203,122	S498G	probably benign	Het
Azin1	A	G	15: 38,493,500	V293A	probably benign	Het
Ccdc88b	T	C	19: 6,857,715	E46G	probably damaging	Het
Ccdc96	T	C	5: 36,484,875		probably benign	Het
Ccnyl1	A	G	1: 64,713,131	D169G	probably benign	Het
Cdca3	T	A	6: 124,832,164	V89E	probably damaging	Het
Cdh19	A	T	1: 110,895,381		probably null	Het
Chka	G	A	19: 3,886,375	V238I	probably damaging	Het
Cntn3	T	C	6: 102,242,022	K546E	possibly damaging	Het
Crybg3	A	G	16: 59,539,817	V787A	probably damaging	Het
Dlgap3	T	C	4: 127,195,715		probably null	Het
Dnah8	C	T	17: 30,683,634	L889F	probably benign	Het
Dnah9	T	C	11: 66,076,358	E1658G	probably damaging	Het
Dnajc11	A	G	4: 151,968,539	D102G	probably damaging	Het
Dync1i2	T	G	2: 71,233,674	S121A	probably damaging	Het
Ece1	G	A	4: 137,957,175	E591K	probably damaging	Het
Enthd1	G	A	15: 80,560,309	S15L	probably damaging	Het
Epb41l2	T	A	10: 25,471,626	H372Q	probably damaging	Het
Errfi1	T	A	4: 150,866,747	Y211N	probably damaging	Het
Fam193b	G	A	13: 55,543,437	T208M	probably benign	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm340	G	C	19: 41,585,895	A1030P	probably benign	Het
Gm4841	G	T	18: 60,270,063	D319E	probably benign	Het
Gm5724	C	A	6: 141,723,222	A495S	probably damaging	Het
Gucd1	A	G	10: 75,509,660	F187S	probably damaging	Het
Hcar2	GCGGATGCGCAC	GC	5: 123,864,689		probably null	Het
Helz2	T	C	2: 181,238,417	D502G	probably damaging	Het
Hspa2	A	G	12: 76,404,865	E111G	possibly damaging	Het
Htr2a	T	A	14: 74,645,059	S162T	probably damaging	Het
Ift80	A	G	3: 68,962,290	Y223H	possibly damaging	Het
Il1rl1	A	G	1: 40,446,678	K330E	probably benign	Het
Il23r	A	T	6: 67,423,661	F562I	probably damaging	Het
Isx	T	C	8: 74,873,859		probably null	Het
Jcad	G	A	18: 4,674,055	V606I	probably benign	Het
Kcnn2	A	T	18: 45,683,120	T333S	possibly damaging	Het
Kcnq5	C	T	1: 21,403,050	A630T	probably damaging	Het
Kif2c	T	C	4: 117,171,749	M188V	probably benign	Het
Kntc1	T	C	5: 123,765,023	V321A	possibly damaging	Het
Krtap4-8	A	T	11: 99,780,445		probably benign	Het
Lgals3bp	A	C	11: 118,398,469	L52R	probably damaging	Het
Lipk	C	A	19: 34,021,699	H126Q	probably damaging	Het
Lpgat1	T	C	1: 191,763,667	Y323H	probably damaging	Het
Lrp2	T	G	2: 69,481,173	N2654H	probably damaging	Het
Lsm14b	C	T	2: 180,027,981	Q6*	probably null	Het
Lysmd3	C	T	13: 81,669,465	A187V	possibly damaging	Het
Map2k5	A	G	9: 63,293,719	S211P	probably damaging	Het
Mlph	A	T	1: 90,941,697	I474F	probably damaging	Het
Mpped2	T	C	2: 106,783,746	S142P	probably damaging	Het
Nemf	A	C	12: 69,324,288	M678R	probably benign	Het
Nfe2l1	A	T	11: 96,827,689	Y7N	probably damaging	Het
Nfkbie	T	G	17: 45,556,306	D122E	probably benign	Het
Noc3l	C	A	19: 38,789,622	A783S	probably benign	Het
Nol8	T	C	13: 49,662,753	V761A	probably damaging	Het
Nvl	A	G	1: 181,101,587	L743P	probably damaging	Het
Olfr3	T	A	2: 36,812,472	I207F	probably benign	Het
Plcb1	A	G	2: 135,251,747	K160R	possibly damaging	Het
Plekhg3	G	T	12: 76,578,322	G1313C	possibly damaging	Het
Plekhh1	GTCAAA	G	12: 79,075,420		probably null	Het
Popdc3	G	A	10: 45,314,906	V38I	probably benign	Het
Prdx3	A	T	19: 60,870,113	V114D	possibly damaging	Het
Prkdc	T	A	16: 15,667,715	S469T	probably benign	Het
Rbm22	G	A	18: 60,564,391	R56H	probably damaging	Het
Reln	A	T	5: 22,286,896	F113I	possibly damaging	Het
Rims1	A	G	1: 22,427,481	Y808H	probably damaging	Het
Rsbn1	C	A	3: 103,929,020	T458N	possibly damaging	Het
Serpina3b	A	G	12: 104,130,630	S57G	possibly damaging	Het
Skor2	G	T	18: 76,861,183		probably null	Het
Slc22a4	A	T	11: 53,988,893	Y447N	probably damaging	Het
Stx19	G	T	16: 62,822,319	R166L	probably damaging	Het
Svep1	T	C	4: 58,205,869	T170A	possibly damaging	Het
Sycp2	T	G	2: 178,374,432	S746R	probably benign	Het
Tchh	G	T	3: 93,447,882	R1543L	unknown	Het
Tjp2	T	C	19: 24,100,805	D908G	probably damaging	Het
Ttc8	C	A	12: 98,979,809	A452E	possibly damaging	Het
Unc5a	T	A	13: 55,003,883	W709R	probably null	Het
Unc80	T	A	1: 66,510,792	S736R	possibly damaging	Het
Vmn2r100	C	A	17: 19,522,526	H387Q	probably benign	Het
Vmn2r39	C	T	7: 9,023,470		probably null	Het
Vmn2r88	T	A	14: 51,413,245	D138E	probably benign	Het
Vwce	T	C	19: 10,648,467	F448L	possibly damaging	Het
Wdr75	C	T	1: 45,822,485	S695F	probably benign	Het
Zfand4	T	C	6: 116,288,161		probably null	Het
Zfp511	T	A	7: 140,037,511		probably null	Het
Zfyve9	T	C	4: 108,644,368	K584E	possibly damaging	Het

Other mutations in Fmnl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Fmnl2	APN	2	53114917	missense	probably damaging	1.00
IGL00960:Fmnl2	APN	2	53123482	missense	probably damaging	0.98
IGL01343:Fmnl2	APN	2	53123545	missense	probably damaging	1.00
IGL01790:Fmnl2	APN	2	53118368	missense	probably damaging	1.00
IGL02555:Fmnl2	APN	2	53126851	critical splice acceptor site	probably null
IGL02613:Fmnl2	APN	2	53073735	critical splice donor site	probably null
IGL02712:Fmnl2	APN	2	53036498	splice site	probably benign
IGL02715:Fmnl2	APN	2	53072210	missense	possibly damaging	0.93
IGL02750:Fmnl2	APN	2	53103697	missense	possibly damaging	0.95
IGL02832:Fmnl2	APN	2	52858249	missense	possibly damaging	0.90
IGL02975:Fmnl2	APN	2	53101482	missense	probably benign	0.45
Beefeater	UTSW	2	53073654	missense	unknown
waterloo	UTSW	2	53014848	missense	probably damaging	1.00
PIT4280001:Fmnl2	UTSW	2	53118196	missense	unknown
R0529:Fmnl2	UTSW	2	53042365	missense	probably damaging	1.00
R0571:Fmnl2	UTSW	2	53054491	missense	probably benign	0.01
R0707:Fmnl2	UTSW	2	53054486	missense	possibly damaging	0.85
R1172:Fmnl2	UTSW	2	53072274	missense	probably damaging	1.00
R1473:Fmnl2	UTSW	2	52858207	missense	possibly damaging	0.53
R1533:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R1536:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R1537:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R1547:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R1548:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R1549:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R1604:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R1608:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R1615:Fmnl2	UTSW	2	53118424	missense	probably damaging	1.00
R1792:Fmnl2	UTSW	2	53042317	missense	possibly damaging	0.79
R1965:Fmnl2	UTSW	2	53114868	missense	probably damaging	1.00
R1970:Fmnl2	UTSW	2	53105576	missense	possibly damaging	0.93
R2012:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R2065:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R2111:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R2112:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R2427:Fmnl2	UTSW	2	53116979	missense	probably damaging	0.96
R4084:Fmnl2	UTSW	2	53107495	missense	possibly damaging	0.96
R4095:Fmnl2	UTSW	2	53101523	missense	probably damaging	0.99
R4607:Fmnl2	UTSW	2	53103716	missense	possibly damaging	0.94
R4608:Fmnl2	UTSW	2	53103716	missense	possibly damaging	0.94
R4731:Fmnl2	UTSW	2	53117069	missense	possibly damaging	0.95
R4947:Fmnl2	UTSW	2	53073710	missense	probably benign	0.32
R5015:Fmnl2	UTSW	2	53103761	missense	possibly damaging	0.85
R5402:Fmnl2	UTSW	2	53128782	missense	probably damaging	0.97
R5731:Fmnl2	UTSW	2	53118137	splice site	probably null
R5766:Fmnl2	UTSW	2	53101454	missense	probably damaging	1.00
R5945:Fmnl2	UTSW	2	53114199	missense	probably damaging	0.99
R6093:Fmnl2	UTSW	2	53114868	missense	probably damaging	1.00
R6210:Fmnl2	UTSW	2	53130445	missense	possibly damaging	0.94
R6287:Fmnl2	UTSW	2	53014848	missense	probably damaging	1.00
R6661:Fmnl2	UTSW	2	53108285	missense	probably damaging	0.98
R6967:Fmnl2	UTSW	2	53097332	missense	possibly damaging	0.88
R7006:Fmnl2	UTSW	2	53108254	missense	probably benign	0.27
R7146:Fmnl2	UTSW	2	53068540	missense
R7173:Fmnl2	UTSW	2	53114190	missense	unknown
R7176:Fmnl2	UTSW	2	53114150	missense	unknown
R7182:Fmnl2	UTSW	2	53107441	missense	unknown
R7201:Fmnl2	UTSW	2	53073654	missense	unknown
R7470:Fmnl2	UTSW	2	53042365	missense	probably damaging	1.00
R7481:Fmnl2	UTSW	2	53108431	missense	unknown
R7691:Fmnl2	UTSW	2	53101498	missense	unknown
R7699:Fmnl2	UTSW	2	53036508	missense
R7700:Fmnl2	UTSW	2	53036508	missense
R7722:Fmnl2	UTSW	2	53054467	missense
R7775:Fmnl2	UTSW	2	53073680	missense	unknown
R7824:Fmnl2	UTSW	2	53073680	missense	unknown
R8282:Fmnl2	UTSW	2	53107666	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTATGAAGCCAGTGTCCTGAAC -3'
(R):5'- CTTGCTCAAGATAAGGGAAATCACTAC -3'

Sequencing Primer
(F):5'- TATGAAGCCAGTGTCCTGAACATGAC -3'
(R):5'- ATCACTACTGTTCCACCAGGG -3'

Posted On

2015-10-21