Mutagenetix > Incidental Mutations

Incidental Mutation 'R1965:Fmnl2'

218244

Institutional Source

Beutler Lab

Gene Symbol

Fmnl2

Ensembl Gene

ENSMUSG00000036053

Gene Name

formin-like 2

Synonyms

5430425K04Rik, man

MMRRC Submission

039978-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1965 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52857860-53133804 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53114868 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 658 (D658G)

Ref Sequence

ENSEMBL: ENSMUSP00000047260 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000049483
AA Change: D658G

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

SMART Domains

Protein: ENSMUSP00000047260
Gene: ENSMUSG00000036053
AA Change: D658G

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 damaging
Transcript: ENSMUST00000050719
AA Change: D624G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000057084
Gene: ENSMUSG00000036053
AA Change: D624G

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

probably damaging
Transcript: ENSMUST00000090952
AA Change: D658G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088472
Gene: ENSMUSG00000036053
AA Change: D658G

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

probably damaging
Transcript: ENSMUST00000127122
AA Change: D658G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118658
Gene: ENSMUSG00000036053
AA Change: D658G

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

probably benign
Transcript: ENSMUST00000155586
AA Change: D658G

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000117822
Gene: ENSMUSG00000036053
AA Change: D658G

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	T	A	5: 98,346,234	D32E	probably damaging	Het
1700042G07Rik	G	A	4: 116,174,179	C82Y	probably damaging	Het
Aco1	T	G	4: 40,175,730	L157R	probably damaging	Het
Acot11	A	T	4: 106,749,353	L513Q	probably damaging	Het
Amd1	A	G	10: 40,294,759	I52T	probably benign	Het
Ap2b1	T	C	11: 83,346,895	I557T	probably benign	Het
Arel1	T	A	12: 84,940,399		probably null	Het
Arg1	T	A	10: 24,916,864		probably null	Het
Atf1	A	T	15: 100,254,171	M135L	probably benign	Het
Atf2	T	C	2: 73,850,898	E77G	possibly damaging	Het
Axin1	G	T	17: 26,184,225	A394S	probably damaging	Het
Axin1	A	T	17: 26,190,228	Q734L	probably damaging	Het
Brd8	G	C	18: 34,602,766	A886G	probably damaging	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Celf3	T	C	3: 94,485,327	V35A	probably damaging	Het
Ckap2	T	C	8: 22,175,787	T415A	possibly damaging	Het
Crybg3	T	C	16: 59,503,237	Y1066C	probably damaging	Het
Csmd3	T	C	15: 47,849,748	H1506R	probably benign	Het
Dnah10	A	G	5: 124,775,203	D1808G	probably damaging	Het
Dsc3	C	T	18: 19,980,672	G398R	probably damaging	Het
Emc2	A	G	15: 43,527,467	Q293R	probably damaging	Het
Evc2	A	G	5: 37,363,532	N251D	possibly damaging	Het
Fam151a	A	T	4: 106,733,915		probably benign	Het
Fam208a	T	G	14: 27,442,554	C272W	probably damaging	Het
Fbxw16	T	A	9: 109,441,221	I151F	probably damaging	Het
Fnip2	G	A	3: 79,493,472	T314I	probably benign	Het
Foxc2	T	A	8: 121,116,674	S20R	probably damaging	Het
Fpr-rs6	C	T	17: 20,182,656	G148R	probably damaging	Het
Fsip2	T	C	2: 82,992,780	S6286P	possibly damaging	Het
Fyb2	A	T	4: 104,913,649	I54F	probably benign	Het
Gbf1	T	C	19: 46,271,564	F999L	probably damaging	Het
Gldc	G	A	19: 30,137,113	R466*	probably null	Het
Gm12695	T	A	4: 96,762,845	S124C	probably benign	Het
Gm4846	A	T	1: 166,486,964	I370N	possibly damaging	Het
Gsdmc3	T	C	15: 63,858,447	T423A	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Kcnmb3	T	C	3: 32,472,343	Y233C	probably damaging	Het
Kidins220	A	G	12: 24,994,906	D191G	probably damaging	Het
Kmt2a	A	G	9: 44,821,460		probably benign	Het
Krt1	T	C	15: 101,848,992	D261G	probably benign	Het
Lrba	A	G	3: 86,605,868		probably null	Het
Myo1f	C	T	17: 33,598,172	R730*	probably null	Het
Ncoa7	C	A	10: 30,654,430	E30*	probably null	Het
Neurod4	T	A	10: 130,271,049	K119*	probably null	Het
Npy5r	T	C	8: 66,681,277	D288G	probably benign	Het
Nr3c2	A	T	8: 76,909,463	I398L	probably damaging	Het
Olfr1002	T	C	2: 85,647,746	T192A	possibly damaging	Het
Olfr1151	A	G	2: 87,857,415	K80R	probably benign	Het
Olfr1160	A	G	2: 88,006,304	F149S	probably damaging	Het
Olfr1270	T	C	2: 90,149,404	S201G	probably damaging	Het
Olfr1277	T	C	2: 111,269,593	Y258C	probably damaging	Het
Olfr533	C	A	7: 140,466,661	F153L	probably benign	Het
Olfr624	A	T	7: 103,670,896	I45N	probably damaging	Het
Olfr713	T	C	7: 107,036,358	S68P	probably damaging	Het
Pcf11	A	T	7: 92,661,601	M393K	probably benign	Het
Pck2	T	C	14: 55,542,507	V71A	probably benign	Het
Pdzd8	G	T	19: 59,300,122	L949I	probably benign	Het
Pdzrn4	G	A	15: 92,746,309		probably null	Het
Phospho1	A	G	11: 95,830,879	N125S	probably damaging	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Ppid	A	T	3: 79,602,299	K308*	probably null	Het
Ppp1r1b	A	G	11: 98,355,363	E57G	probably damaging	Het
Prtg	T	G	9: 72,848,322	S269A	probably benign	Het
Rbbp5	T	A	1: 132,494,297	S312T	probably damaging	Het
Rbm11	T	A	16: 75,598,768		probably null	Het
Retreg1	A	G	15: 25,970,164	T139A	probably damaging	Het
Riok3	T	A	18: 12,136,962	H120Q	probably damaging	Het
Rln1	A	T	19: 29,334,595	M1K	probably null	Het
Rpp30	C	T	19: 36,089,149	S94L	probably damaging	Het
Sccpdh	C	T	1: 179,684,314	P117L	probably damaging	Het
Serac1	T	C	17: 6,048,999	K506E	possibly damaging	Het
Serping1	G	T	2: 84,765,728	T454K	probably damaging	Het
Slc1a2	T	A	2: 102,739,900	N174K	probably damaging	Het
Slc2a2	A	G	3: 28,719,485	Q313R	probably damaging	Het
Slc46a2	T	A	4: 59,914,249	S225C	probably damaging	Het
Smarcc2	G	A	10: 128,474,758	E419K	probably damaging	Het
Stkld1	T	A	2: 26,946,732		probably null	Het
Szt2	A	G	4: 118,383,965	M1704T	probably benign	Het
Tfcp2l1	C	T	1: 118,652,923	Q116*	probably null	Het
Timm44	A	G	8: 4,260,603	M383T	possibly damaging	Het
Tnpo2	G	A	8: 85,045,317		probably null	Het
Tnrc6b	A	G	15: 80,880,439	K714R	probably damaging	Het
Wdfy3	A	G	5: 101,951,312	L290P	probably damaging	Het
Wdr59	A	G	8: 111,451,077	F898L	probably damaging	Het
Zfp120	A	T	2: 150,117,398	C335S	probably damaging	Het
Zfp518a	T	C	19: 40,913,510	S628P	probably benign	Het
Zfp879	A	T	11: 50,833,528	C234S	probably 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
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
R4720:Fmnl2	UTSW	2	53107540	missense	possibly damaging	0.96
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'- TGGACATTCACTTCTGACTGGG -3'
(R):5'- AGGATGCTGGAAACTTACACATG -3'

Sequencing Primer
(F):5'- GACATTCACTTCTGACTGGGAGATAG -3'
(R):5'- GCTGGAAACTTACACATGAATAGC -3'

Posted On

2014-08-01