Mutagenetix > Incidental Mutations

Incidental Mutation 'R7700:Fmnl2'

593909

Institutional Source

Beutler Lab

Gene Symbol

Fmnl2

Ensembl Gene

ENSMUSG00000036053

Gene Name

formin-like 2

Synonyms

5430425K04Rik, man

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7700 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52857860-53133804 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53036508 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 69 (R69Q)

Ref Sequence

ENSEMBL: ENSMUSP00000117822 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049483
AA Change: R69Q

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

SMART Domains

Protein: ENSMUSP00000047260
Gene: ENSMUSG00000036053
AA Change: R69Q

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

possibly damaging
Transcript: ENSMUST00000050719
AA Change: R69Q

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000057084
Gene: ENSMUSG00000036053
AA Change: R69Q

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: R69Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088472
Gene: ENSMUSG00000036053
AA Change: R69Q

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: R69Q

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

SMART Domains

Protein: ENSMUSP00000118658
Gene: ENSMUSG00000036053
AA Change: R69Q

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: R69Q

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

Meta Mutation Damage Score

0.1881

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (85/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	A	G	18: 57,563,316		probably null	Het
1810009A15Rik	T	C	19: 8,890,053	L72P	probably benign	Het
4930407I10Rik	C	A	15: 82,064,105	H734Q	probably benign	Het
4932438A13Rik	T	A	3: 36,974,172	N2329K	possibly damaging	Het
4932438A13Rik	C	T	3: 37,026,154	S267L	probably benign	Het
Acadl	A	G	1: 66,838,363	V343A	possibly damaging	Het
Acot4	A	T	12: 84,043,237	D236V	probably damaging	Het
App	T	A	16: 85,040,309		probably null	Het
Arfgef1	G	A	1: 10,194,411	T470I	possibly damaging	Het
Arhgef5	T	C	6: 43,274,757	I814T	probably benign	Het
Atr	A	T	9: 95,875,690	R968*	probably null	Het
C130060K24Rik	T	A	6: 65,452,956	I212N	probably benign	Het
Capn7	C	T	14: 31,352,444	T268I	probably benign	Het
Cbwd1	A	G	19: 24,942,681		probably null	Het
Csmd2	G	T	4: 128,545,756		probably null	Het
Cubn	A	T	2: 13,348,178	F1916L	probably benign	Het
Cubn	A	G	2: 13,489,917	V107A	possibly damaging	Het
Cyp11b1	T	A	15: 74,835,842	T473S	probably damaging	Het
Cyr61	C	T	3: 145,648,692	G155R	probably damaging	Het
Dip2c	T	G	13: 9,659,311	S1396A	probably benign	Het
Dopey2	T	G	16: 93,798,761		probably null	Het
Dyrk1b	T	C	7: 28,184,312	Y198H	probably damaging	Het
Echdc2	G	T	4: 108,174,077	R206L	probably benign	Het
Ep400	C	T	5: 110,696,032	R1594Q	unknown	Het
Esyt1	T	A	10: 128,515,854		probably benign	Het
Fry	T	A	5: 150,405,327	H1308Q	probably damaging	Het
Fyb2	T	A	4: 105,010,454	D667E	probably benign	Het
Gimap7	T	A	6: 48,723,857	Y126N	possibly damaging	Het
Gm1979	A	T	5: 26,000,180	W266R	probably damaging	Het
Gm28042	T	A	2: 120,039,716	M712K	possibly damaging	Het
Gm3238	A	G	10: 77,770,635	*231R	probably null	Het
Gm5592	C	A	7: 41,286,407	A111E	probably damaging	Het
Gm7694	A	G	1: 170,301,148	*271Q	probably null	Het
Gm9195	A	C	14: 72,455,902		probably null	Het
Ift81	T	C	5: 122,594,560	M304V	possibly damaging	Het
Igfals	T	C	17: 24,880,574	L213P	probably damaging	Het
Ints3	G	A	3: 90,421,804	P83S	probably benign	Het
Kcna10	T	G	3: 107,195,540	S496A	probably damaging	Het
Kmt2d	G	A	15: 98,843,719	A4520V	unknown	Het
Lemd3	A	T	10: 120,978,090	Y413N	probably damaging	Het
Lgr6	T	C	1: 134,996,032	N453S	probably damaging	Het
Lmtk3	A	C	7: 45,792,574	D352A	probably damaging	Het
Lrrc4c	T	C	2: 97,630,679	M550T	possibly damaging	Het
Maml2	A	T	9: 13,621,089	Q533L		Het
Mdn1	T	A	4: 32,741,344	D3815E	probably damaging	Het
Megf8	C	T	7: 25,329,928	A299V	possibly damaging	Het
Meis3	G	T	7: 16,177,556	E59D	probably benign	Het
Mppe1	A	G	18: 67,225,704	*398R	probably null	Het
Mtmr7	G	A	8: 40,606,884	A62V	possibly damaging	Het
Mtus1	T	A	8: 41,083,969	T237S	possibly damaging	Het
Ndfip2	T	A	14: 105,287,759	V158E	possibly damaging	Het
Nrbp2	T	G	15: 76,090,897	T53P	probably damaging	Het
Nrde2	G	A	12: 100,130,835	P902L	probably benign	Het
Olfr1383	A	G	11: 49,524,554	Y277C	probably damaging	Het
Olfr509	T	A	7: 108,645,672	K301N	probably damaging	Het
Olfr739	T	A	14: 50,425,335	M272K	probably benign	Het
Olfr771	T	C	10: 129,160,055	M310V	probably benign	Het
Pcdha1	A	G	18: 36,931,062	T260A	probably damaging	Het
Pdlim1	T	G	19: 40,249,658	K98N	probably damaging	Het
Pdxk	A	T	10: 78,443,930		probably null	Het
Phrf1	G	A	7: 141,254,929	G207R	unknown	Het
Pik3r6	A	G	11: 68,528,563	K124R	probably damaging	Het
Polr2b	T	A	5: 77,340,421	F823I	probably benign	Het
Prss58	T	C	6: 40,895,388	I234V	probably damaging	Het
Ptpn14	A	T	1: 189,865,411	N766I	probably benign	Het
Repin1	T	A	6: 48,597,822	S562T	probably damaging	Het
Rgr	C	T	14: 37,044,595	D165N	probably damaging	Het
Rho	T	C	6: 115,935,239	F221L	probably damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rnase2a	A	G	14: 51,255,791	I39T	probably damaging	Het
Rpl13a	T	G	7: 45,127,236	I43L	probably benign	Het
Rpp30	T	C	19: 36,089,158	V97A	probably benign	Het
Scube3	T	C	17: 28,167,049	Y755H	probably damaging	Het
Sec24a	A	T	11: 51,712,257	V788E	probably damaging	Het
Spns2	A	T	11: 72,489,617	L60*	probably null	Het
Strc	T	C	2: 121,371,748	N1213S	possibly damaging	Het
Tec	A	T	5: 72,786,024	I116N	possibly damaging	Het
Tll1	A	T	8: 64,093,954	D319E	probably benign	Het
Tmem121b	T	C	6: 120,493,427	T110A	unknown	Het
Tmem232	T	A	17: 65,265,218	I593F	probably damaging	Het
Tpp2	A	G	1: 43,970,466	I487V	probably benign	Het
Ubr4	C	A	4: 139,408,867	C934*	probably null	Het
Vmn1r68	A	G	7: 10,527,632	Y180H	probably benign	Het
Vmn2r25	T	C	6: 123,839,923	D233G	possibly damaging	Het
Wdr6	A	G	9: 108,576,361	W108R	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
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
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
R8774:Fmnl2	UTSW	2	53042309	missense
R8774-TAIL:Fmnl2	UTSW	2	53042309	missense
Z1188:Fmnl2	UTSW	2	53114871	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTGAATTCCTCCTATGCAGGG -3'
(R):5'- AAGATGGCCTCCAACGCATG -3'

Sequencing Primer
(F):5'- TCCTATGCAGGGAGAGCTG -3'
(R):5'- CAACGCATGTCTGCTTGGAGATC -3'

Posted On

2019-11-12