Mutagenetix > Incidental Mutation

Incidental Mutation 'R7146:Fmnl2'

553755

Institutional Source

Beutler Lab

Gene Symbol

Fmnl2

Ensembl Gene

ENSMUSG00000036053

Gene Name

formin-like 2

Synonyms

man, 5430425K04Rik

MMRRC Submission

045251-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7146 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52747872-53023816 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 52958552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 212 (S212L)

Ref Sequence

ENSEMBL: ENSMUSP00000117822 (fasta)

Gene Model

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

AlphaFold

A2APV2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049483
AA Change: S212L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047260
Gene: ENSMUSG00000036053
AA Change: S212L

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: S212L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000057084
Gene: ENSMUSG00000036053
AA Change: S212L

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: S212L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088472
Gene: ENSMUSG00000036053
AA Change: S212L

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: S212L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118658
Gene: ENSMUSG00000036053
AA Change: S212L

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

SMART Domains

Protein: ENSMUSP00000117822
Gene: ENSMUSG00000036053
AA Change: S212L

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

Meta Mutation Damage Score

0.1424

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

95% (99/104)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,854,520 (GRCm39)	I895F	probably benign	Het
Abca16	A	G	7: 120,126,974 (GRCm39)	N1222D	possibly damaging	Het
Abcc4	A	T	14: 118,852,593 (GRCm39)	Y499N	probably damaging	Het
Adgrg7	A	C	16: 56,550,605 (GRCm39)	C702W	probably damaging	Het
Adk	C	A	14: 21,376,682 (GRCm39)	P27H		Het
Ankrd13a	T	C	5: 114,913,293 (GRCm39)	S2P	probably damaging	Het
Ano1	T	C	7: 144,209,393 (GRCm39)	H269R	probably benign	Het
Aox3	T	A	1: 58,197,688 (GRCm39)		probably null	Het
Asl	G	A	5: 130,053,290 (GRCm39)		probably benign	Het
Asxl2	A	T	12: 3,507,066 (GRCm39)	D86V	probably damaging	Het
Ate1	A	T	7: 130,083,508 (GRCm39)		probably null	Het
Bach2	A	G	4: 32,562,670 (GRCm39)	D379G	probably damaging	Het
Bdkrb1	T	A	12: 105,571,142 (GRCm39)	L236Q	probably damaging	Het
Cacna2d3	T	C	14: 29,443,654 (GRCm39)	Y24C	unknown	Het
Cage1	G	T	13: 38,207,025 (GRCm39)	N273K	probably benign	Het
Ccdc51	T	A	9: 108,920,848 (GRCm39)	I245N	probably damaging	Het
Cep152	T	C	2: 125,456,325 (GRCm39)	I229V	probably benign	Het
Chst4	T	A	8: 110,757,363 (GRCm39)	S167C	probably damaging	Het
Cntnap4	A	T	8: 113,537,268 (GRCm39)	Y713F	probably damaging	Het
Cntnap5b	G	A	1: 99,978,519 (GRCm39)		probably null	Het
Cog8	G	T	8: 107,779,005 (GRCm39)	T424K	possibly damaging	Het
Cop1	T	G	1: 159,071,922 (GRCm39)		probably null	Het
Cyp2j6	A	G	4: 96,434,019 (GRCm39)	I97T	probably damaging	Het
D430041D05Rik	T	C	2: 104,088,698 (GRCm39)	T131A	probably benign	Het
Dnah17	T	C	11: 117,972,936 (GRCm39)	D1999G	probably damaging	Het
Dnah8	A	G	17: 30,863,591 (GRCm39)	D250G	probably benign	Het
Dnah8	T	C	17: 30,988,618 (GRCm39)	V3196A	possibly damaging	Het
Dscam	A	T	16: 96,631,117 (GRCm39)	Y299*	probably null	Het
Efcab3	A	G	11: 104,858,578 (GRCm39)	N3879S	unknown	Het
Efcab3	A	C	11: 104,913,764 (GRCm39)	D4594A	probably benign	Het
Ephb1	A	G	9: 101,841,157 (GRCm39)	S774P	probably damaging	Het
Fat1	G	A	8: 45,403,962 (GRCm39)	V238I	probably benign	Het
Fermt1	C	T	2: 132,776,785 (GRCm39)	M234I	probably benign	Het
Frem1	T	C	4: 82,840,532 (GRCm39)	N1798S	possibly damaging	Het
Gabrd	T	A	4: 155,469,863 (GRCm39)	M449L	probably benign	Het
Gad1	T	C	2: 70,417,706 (GRCm39)	F302L	probably benign	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Gm21886	GGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGTAAATAGTAGGTGCTCACTGAGGCCTGTAGACAGTAGGTGCTCA	GGGCCTGTAGACAGTAGGTGCTCA	18: 80,132,697 (GRCm39)		probably benign	Het
Gnb3	C	T	6: 124,813,887 (GRCm39)		probably null	Het
Gtf3c1	A	T	7: 125,271,993 (GRCm39)	M642K	possibly damaging	Het
Hps3	A	T	3: 20,063,050 (GRCm39)	W838R	probably damaging	Het
Ide	A	T	19: 37,273,343 (GRCm39)	W527R		Het
Ighe	A	T	12: 113,235,975 (GRCm39)	I117N		Het
Ighv1-50	T	C	12: 115,083,396 (GRCm39)	E108G	probably benign	Het
Ivl	G	A	3: 92,479,538 (GRCm39)	P176S	probably damaging	Het
Lamb2	T	A	9: 108,361,283 (GRCm39)	L605Q	possibly damaging	Het
Lgi3	G	A	14: 70,770,832 (GRCm39)	R157H	probably damaging	Het
Lrp1b	G	T	2: 41,266,006 (GRCm39)	C1053*	probably null	Het
Mcpt9	A	T	14: 56,264,445 (GRCm39)	S217T	probably damaging	Het
Mgat4c	T	G	10: 102,224,357 (GRCm39)	N190K	probably damaging	Het
Mknk1	T	A	4: 115,721,789 (GRCm39)	V111D	probably damaging	Het
Mmp11	T	C	10: 75,764,280 (GRCm39)	T62A	probably benign	Het
Mmp1b	C	A	9: 7,385,014 (GRCm39)	V212F	probably damaging	Het
Mmp7	A	G	9: 7,697,587 (GRCm39)		probably null	Het
Muc5b	C	T	7: 141,417,704 (GRCm39)	T3550M	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nphp3	A	T	9: 103,882,036 (GRCm39)	K169*	probably null	Het
Npy6r	G	T	18: 44,408,788 (GRCm39)	V70F	probably benign	Het
Nsun2	T	A	13: 69,774,672 (GRCm39)		probably null	Het
Oplah	T	A	15: 76,186,860 (GRCm39)	I652F	probably benign	Het
Pcdh18	T	C	3: 49,710,271 (GRCm39)	N348S	probably damaging	Het
Pcdhb5	T	A	18: 37,454,409 (GRCm39)	V263D	probably damaging	Het
Pcdhga1	C	A	18: 37,795,164 (GRCm39)	T56N	probably benign	Het
Pdk4	A	G	6: 5,491,068 (GRCm39)		probably null	Het
Pfkp	C	A	13: 6,652,817 (GRCm39)	V434F	probably benign	Het
Phospho1	G	A	11: 95,721,732 (GRCm39)	R134H	probably damaging	Het
Polg2	G	T	11: 106,663,572 (GRCm39)	Q374K	probably benign	Het
Ptpra	T	C	2: 130,379,571 (GRCm39)		probably null	Het
Rassf3	C	T	10: 121,252,052 (GRCm39)	E120K	probably benign	Het
Reln	A	T	5: 22,311,095 (GRCm39)	S273T	probably damaging	Het
Scarb1	C	T	5: 125,361,089 (GRCm39)	A133T	probably benign	Het
Scn3a	T	A	2: 65,313,486 (GRCm39)	K1142N	probably damaging	Het
Sema3c	G	A	5: 17,899,701 (GRCm39)	V398I	probably benign	Het
Serpine1	C	A	5: 137,099,918 (GRCm39)	Q80H	probably damaging	Het
Sh3gl1	G	A	17: 56,324,646 (GRCm39)	T334M	probably damaging	Het
Smg7	T	C	1: 152,737,576 (GRCm39)	N122D	probably benign	Het
Speer4b	T	C	5: 27,703,708 (GRCm39)	I144V	probably benign	Het
Spire2	T	A	8: 124,095,989 (GRCm39)	D671E	probably benign	Het
Sspo	A	T	6: 48,478,029 (GRCm39)	H5144L	probably benign	Het
Sstr2	A	T	11: 113,516,179 (GRCm39)	Q366L	probably damaging	Het
Ssu72	T	C	4: 155,815,850 (GRCm39)	F98S	probably damaging	Het
Syde2	C	T	3: 145,712,870 (GRCm39)	Q1003*	probably null	Het
Tapbp	G	A	17: 34,144,461 (GRCm39)	A186T	possibly damaging	Het
Tcf12	T	A	9: 71,790,385 (GRCm39)		probably null	Het
Tnfrsf22	A	T	7: 143,194,556 (GRCm39)	C124S	probably damaging	Het
Txlnb	A	T	10: 17,703,546 (GRCm39)	T235S	possibly damaging	Het
Uaca	T	C	9: 60,777,695 (GRCm39)	L694P	probably damaging	Het
Unc13a	T	A	8: 72,083,197 (GRCm39)	N1620Y	probably damaging	Het
Vmn2r10	C	T	5: 109,151,200 (GRCm39)	C138Y	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r28	T	A	7: 5,484,495 (GRCm39)	E568D	probably benign	Het
Vmn2r57	A	T	7: 41,097,895 (GRCm39)	H57Q	possibly damaging	Het
Vwa5b1	A	G	4: 138,308,923 (GRCm39)	S756P	probably benign	Het
Washc5	C	A	15: 59,224,350 (GRCm39)	E470*	probably null	Het
Xpot	A	T	10: 121,442,678 (GRCm39)	V508D	probably damaging	Het
Zfp616	A	T	11: 73,976,087 (GRCm39)	K785N	possibly damaging	Het
Zfp653	T	C	9: 21,977,195 (GRCm39)	N119D	probably damaging	Het
Zfp729b	A	G	13: 67,741,495 (GRCm39)	S257P	probably damaging	Het
Zfp82	T	A	7: 29,755,592 (GRCm39)	T497S	probably benign	Het
Znrf4	T	G	17: 56,819,305 (GRCm39)	M1L	probably benign	Het

Other mutations in Fmnl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Fmnl2	APN	2	53,004,929 (GRCm39)	missense	probably damaging	1.00
IGL00960:Fmnl2	APN	2	53,013,494 (GRCm39)	missense	probably damaging	0.98
IGL01343:Fmnl2	APN	2	53,013,557 (GRCm39)	missense	probably damaging	1.00
IGL01790:Fmnl2	APN	2	53,008,380 (GRCm39)	missense	probably damaging	1.00
IGL02555:Fmnl2	APN	2	53,016,863 (GRCm39)	critical splice acceptor site	probably null
IGL02613:Fmnl2	APN	2	52,963,747 (GRCm39)	critical splice donor site	probably null
IGL02712:Fmnl2	APN	2	52,926,510 (GRCm39)	splice site	probably benign
IGL02715:Fmnl2	APN	2	52,962,222 (GRCm39)	missense	possibly damaging	0.93
IGL02750:Fmnl2	APN	2	52,993,709 (GRCm39)	missense	possibly damaging	0.95
IGL02832:Fmnl2	APN	2	52,748,261 (GRCm39)	missense	possibly damaging	0.90
IGL02975:Fmnl2	APN	2	52,991,494 (GRCm39)	missense	probably benign	0.45
Beefeater	UTSW	2	52,963,666 (GRCm39)	missense	unknown
waterloo	UTSW	2	52,904,860 (GRCm39)	missense	probably damaging	1.00
PIT4280001:Fmnl2	UTSW	2	53,008,208 (GRCm39)	missense	unknown
R0529:Fmnl2	UTSW	2	52,932,377 (GRCm39)	missense	probably damaging	1.00
R0571:Fmnl2	UTSW	2	52,944,503 (GRCm39)	missense	probably benign	0.01
R0707:Fmnl2	UTSW	2	52,944,498 (GRCm39)	missense	possibly damaging	0.85
R1172:Fmnl2	UTSW	2	52,962,286 (GRCm39)	missense	probably damaging	1.00
R1473:Fmnl2	UTSW	2	52,748,219 (GRCm39)	missense	possibly damaging	0.53
R1533:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1536:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1537:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1547:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1548:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1549:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1604:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1608:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1615:Fmnl2	UTSW	2	53,008,436 (GRCm39)	missense	probably damaging	1.00
R1792:Fmnl2	UTSW	2	52,932,329 (GRCm39)	missense	possibly damaging	0.79
R1965:Fmnl2	UTSW	2	53,004,880 (GRCm39)	missense	probably damaging	1.00
R1970:Fmnl2	UTSW	2	52,995,588 (GRCm39)	missense	possibly damaging	0.93
R2012:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R2065:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R2111:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R2112:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R2427:Fmnl2	UTSW	2	53,006,991 (GRCm39)	missense	probably damaging	0.96
R4084:Fmnl2	UTSW	2	52,997,507 (GRCm39)	missense	possibly damaging	0.96
R4095:Fmnl2	UTSW	2	52,991,535 (GRCm39)	missense	probably damaging	0.99
R4607:Fmnl2	UTSW	2	52,993,728 (GRCm39)	missense	possibly damaging	0.94
R4608:Fmnl2	UTSW	2	52,993,728 (GRCm39)	missense	possibly damaging	0.94
R4720:Fmnl2	UTSW	2	52,997,552 (GRCm39)	missense	possibly damaging	0.96
R4731:Fmnl2	UTSW	2	53,007,081 (GRCm39)	missense	possibly damaging	0.95
R4947:Fmnl2	UTSW	2	52,963,722 (GRCm39)	missense	probably benign	0.32
R5015:Fmnl2	UTSW	2	52,993,773 (GRCm39)	missense	possibly damaging	0.85
R5402:Fmnl2	UTSW	2	53,018,794 (GRCm39)	missense	probably damaging	0.97
R5731:Fmnl2	UTSW	2	53,008,149 (GRCm39)	splice site	probably null
R5766:Fmnl2	UTSW	2	52,991,466 (GRCm39)	missense	probably damaging	1.00
R5945:Fmnl2	UTSW	2	53,004,211 (GRCm39)	missense	probably damaging	0.99
R6093:Fmnl2	UTSW	2	53,004,880 (GRCm39)	missense	probably damaging	1.00
R6210:Fmnl2	UTSW	2	53,020,457 (GRCm39)	missense	possibly damaging	0.94
R6287:Fmnl2	UTSW	2	52,904,860 (GRCm39)	missense	probably damaging	1.00
R6661:Fmnl2	UTSW	2	52,998,297 (GRCm39)	missense	probably damaging	0.98
R6967:Fmnl2	UTSW	2	52,987,344 (GRCm39)	missense	possibly damaging	0.88
R7006:Fmnl2	UTSW	2	52,998,266 (GRCm39)	missense	probably benign	0.27
R7173:Fmnl2	UTSW	2	53,004,202 (GRCm39)	missense	unknown
R7176:Fmnl2	UTSW	2	53,004,162 (GRCm39)	missense	unknown
R7182:Fmnl2	UTSW	2	52,997,453 (GRCm39)	missense	unknown
R7201:Fmnl2	UTSW	2	52,963,666 (GRCm39)	missense	unknown
R7470:Fmnl2	UTSW	2	52,932,377 (GRCm39)	missense	probably damaging	1.00
R7481:Fmnl2	UTSW	2	52,998,443 (GRCm39)	missense	unknown
R7691:Fmnl2	UTSW	2	52,991,510 (GRCm39)	missense	unknown
R7699:Fmnl2	UTSW	2	52,926,520 (GRCm39)	missense
R7700:Fmnl2	UTSW	2	52,926,520 (GRCm39)	missense
R7722:Fmnl2	UTSW	2	52,944,479 (GRCm39)	missense
R7775:Fmnl2	UTSW	2	52,963,692 (GRCm39)	missense	unknown
R7824:Fmnl2	UTSW	2	52,963,692 (GRCm39)	missense	unknown
R8282:Fmnl2	UTSW	2	52,997,678 (GRCm39)	critical splice donor site	probably null
R8774:Fmnl2	UTSW	2	52,932,321 (GRCm39)	missense
R8774-TAIL:Fmnl2	UTSW	2	52,932,321 (GRCm39)	missense
R8816:Fmnl2	UTSW	2	53,004,214 (GRCm39)	missense	unknown
R8832:Fmnl2	UTSW	2	52,944,584 (GRCm39)	missense
R8868:Fmnl2	UTSW	2	53,016,077 (GRCm39)	missense	unknown
R8990:Fmnl2	UTSW	2	53,016,971 (GRCm39)	missense	unknown
R9412:Fmnl2	UTSW	2	53,007,016 (GRCm39)	missense	unknown
R9502:Fmnl2	UTSW	2	52,998,312 (GRCm39)	missense	unknown
R9532:Fmnl2	UTSW	2	53,006,941 (GRCm39)	missense	unknown
R9602:Fmnl2	UTSW	2	53,013,587 (GRCm39)	critical splice donor site	probably null
R9760:Fmnl2	UTSW	2	52,944,527 (GRCm39)	missense
Z1188:Fmnl2	UTSW	2	53,004,883 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAAGACTGTGTCCGGCTCAC -3'
(R):5'- TCGGACTCTTCTCAACAGAATCTC -3'

Sequencing Primer
(F):5'- CACAGAACCATGGGGGCTTTG -3'
(R):5'- GAGACAGATCTGAGTCTGAC -3'

Posted On

2019-05-15