Mutagenetix > Incidental Mutation

Incidental Mutation 'R5062:Fscn2'

386703

Institutional Source

Beutler Lab

Gene Symbol

Fscn2

Ensembl Gene

ENSMUSG00000025380

Gene Name

fascin actin-bundling protein 2

Synonyms

ahl8, C630046B20Rik

MMRRC Submission

042652-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R5062 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120252360-120258994 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120257575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 312 (Y312S)

Ref Sequence

ENSEMBL: ENSMUSP00000026445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026445] [ENSMUST00000026448]

AlphaFold

Q32M02

Predicted Effect

probably damaging
Transcript: ENSMUST00000026445
AA Change: Y312S

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

SMART Domains

Protein: ENSMUSP00000026445
Gene: ENSMUSG00000025380
AA Change: Y312S

Domain	Start	End	E-Value	Type
Pfam:Fascin	20	133	4.9e-34	PFAM
Pfam:Fascin	141	254	1.2e-26	PFAM
Pfam:Fascin	266	376	8.9e-35	PFAM
Pfam:Fascin	389	492	4.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026448

SMART Domains

Protein: ENSMUSP00000026448
Gene: ENSMUSG00000025384

Domain	Start	End	E-Value	Type
Pfam:FANCAA	447	879	1.4e-196	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152556

Meta Mutation Damage Score

0.7516

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display retinal generation with structural abnormalities of the outer segment and depressed rod and cone ERGs that worsen with age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,067,892 (GRCm39)	I1593N	probably benign	Het
Akr1b10	G	T	6: 34,369,041 (GRCm39)	K173N	probably damaging	Het
Artn	A	T	4: 117,784,873 (GRCm39)	L3Q	probably damaging	Het
Asxl3	T	A	18: 22,655,775 (GRCm39)	S1262T	possibly damaging	Het
Atp6v0a4	A	T	6: 38,051,118 (GRCm39)	M420K	probably benign	Het
Bcam	T	A	7: 19,494,026 (GRCm39)	T422S	possibly damaging	Het
Casp2	C	T	6: 42,246,206 (GRCm39)		probably benign	Het
Ccdc137	A	G	11: 120,353,341 (GRCm39)		probably benign	Het
Cd177	C	A	7: 24,443,741 (GRCm39)	A786S	probably benign	Het
Cdca4	T	C	12: 112,785,483 (GRCm39)	N82D	probably benign	Het
Clu	A	C	14: 66,217,177 (GRCm39)	T337P	probably damaging	Het
Col6a3	A	C	1: 90,707,074 (GRCm39)	I2013S	unknown	Het
Cpne9	T	A	6: 113,281,449 (GRCm39)	M510K	probably damaging	Het
Cyp3a13	A	C	5: 137,897,161 (GRCm39)	N384K	possibly damaging	Het
Fam186a	A	C	15: 99,842,527 (GRCm39)	I1239S	possibly damaging	Het
Fryl	T	C	5: 73,233,236 (GRCm39)	E413G	possibly damaging	Het
Fshr	A	T	17: 89,293,474 (GRCm39)	C401*	probably null	Het
Glyat	A	C	19: 12,627,627 (GRCm39)	Q74P	probably damaging	Het
Gm6158	A	T	14: 24,120,158 (GRCm39)		noncoding transcript	Het
Grm7	A	G	6: 110,623,097 (GRCm39)	N90S	probably damaging	Het
Hectd1	A	T	12: 51,791,662 (GRCm39)	C2536S	probably damaging	Het
Herc3	C	T	6: 58,832,745 (GRCm39)	Q137*	probably null	Het
Kctd3	A	C	1: 188,727,890 (GRCm39)		probably benign	Het
Klhl30	A	G	1: 91,283,300 (GRCm39)	T301A	probably benign	Het
Klra9	T	C	6: 130,156,072 (GRCm39)	K228E	possibly damaging	Het
Lamc3	A	T	2: 31,795,679 (GRCm39)	T355S	possibly damaging	Het
Lcmt1	A	C	7: 123,010,053 (GRCm39)		probably null	Het
Limch1	C	T	5: 67,126,578 (GRCm39)	P60S	probably damaging	Het
Lrfn2	A	G	17: 49,377,528 (GRCm39)	D203G	probably damaging	Het
Mc5r	T	C	18: 68,472,352 (GRCm39)	L237P	probably damaging	Het
Mknk2	G	A	10: 80,507,603 (GRCm39)	R58W	probably damaging	Het
Mrgpra2b	T	C	7: 47,152,676 (GRCm39)		probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Nae1	A	T	8: 105,243,334 (GRCm39)	C395S	possibly damaging	Het
Ncoa1	A	G	12: 4,309,333 (GRCm39)	M1321T	probably damaging	Het
Neb	A	C	2: 52,170,513 (GRCm39)	F1720V	possibly damaging	Het
Nectin2	C	T	7: 19,472,198 (GRCm39)	V64I	probably benign	Het
Nisch	T	A	14: 30,894,397 (GRCm39)	T1145S	probably damaging	Het
Nlrp5	A	T	7: 23,135,335 (GRCm39)	R1009*	probably null	Het
Or12d13	A	T	17: 37,647,822 (GRCm39)	H100Q	probably damaging	Het
Or4k15	T	A	14: 50,364,894 (GRCm39)	Y287N	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pak1ip1	A	G	13: 41,161,621 (GRCm39)		probably benign	Het
Pcm1	T	C	8: 41,712,297 (GRCm39)	V189A	probably damaging	Het
Peak1	G	T	9: 56,167,573 (GRCm39)	N118K	probably damaging	Het
Phgdh	T	A	3: 98,235,655 (GRCm39)	I121F	probably damaging	Het
Pi4ka	G	T	16: 17,127,261 (GRCm39)	A1064E	probably benign	Het
Pkhd1	A	C	1: 20,655,935 (GRCm39)	C199W	probably benign	Het
Plat	A	G	8: 23,262,327 (GRCm39)	D117G	probably benign	Het
Ppp2r2b	C	A	18: 42,821,526 (GRCm39)	V211L	possibly damaging	Het
Ptgs1	A	G	2: 36,127,294 (GRCm39)	D60G	probably damaging	Het
Ryr2	T	C	13: 11,715,240 (GRCm39)	E2776G	probably damaging	Het
Sema4c	C	T	1: 36,592,059 (GRCm39)		probably null	Het
Sharpin	T	C	15: 76,231,811 (GRCm39)		probably benign	Het
Slamf6	A	G	1: 171,764,100 (GRCm39)	I164M	possibly damaging	Het
Slco1a7	A	C	6: 141,713,180 (GRCm39)	M67R	possibly damaging	Het
Spef1	A	G	2: 131,015,201 (GRCm39)	Y46H	probably damaging	Het
Spns1	G	A	7: 125,973,501 (GRCm39)		probably benign	Het
Supt5	C	T	7: 28,028,440 (GRCm39)		probably null	Het
Tbx5	T	A	5: 119,974,987 (GRCm39)	D3E	probably damaging	Het
Thbs1	T	C	2: 117,951,718 (GRCm39)		probably null	Het
Tmem140	G	A	6: 34,849,897 (GRCm39)	V138M	probably damaging	Het
Tmem200a	T	A	10: 25,869,813 (GRCm39)	D152V	probably damaging	Het
Tmem200b	A	G	4: 131,649,848 (GRCm39)	D256G	probably damaging	Het
Tns1	A	T	1: 73,992,023 (GRCm39)	L885Q	probably damaging	Het
Umod	G	A	7: 119,071,644 (GRCm39)	Q366*	probably null	Het
Vsir	A	G	10: 60,200,042 (GRCm39)	I208V	probably damaging	Het
Zfp646	G	A	7: 127,479,671 (GRCm39)	R616H	probably damaging	Het

Other mutations in Fscn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01684:Fscn2	APN	11	120,258,131 (GRCm39)	missense	probably damaging	0.99
IGL01767:Fscn2	APN	11	120,258,576 (GRCm39)	missense	possibly damaging	0.82
IGL02212:Fscn2	APN	11	120,252,881 (GRCm39)	missense	probably damaging	1.00
IGL02299:Fscn2	APN	11	120,253,025 (GRCm39)	missense	probably benign	0.09
IGL02494:Fscn2	APN	11	120,253,228 (GRCm39)	missense	probably benign	0.02
IGL02716:Fscn2	APN	11	120,257,550 (GRCm39)	missense	probably benign	0.00
IGL02882:Fscn2	APN	11	120,253,325 (GRCm39)	missense	probably benign
IGL02986:Fscn2	APN	11	120,258,176 (GRCm39)	missense	possibly damaging	0.74
bundle	UTSW	11	120,258,852 (GRCm39)	missense	probably damaging	1.00
R0513_Fscn2_038	UTSW	11	120,252,706 (GRCm39)	missense	probably damaging	1.00
R7170_Fscn2_209	UTSW	11	120,253,335 (GRCm39)	missense	probably damaging	0.98
ANU74:Fscn2	UTSW	11	120,253,162 (GRCm39)	missense	probably damaging	1.00
R0277:Fscn2	UTSW	11	120,258,837 (GRCm39)	missense	probably damaging	1.00
R0323:Fscn2	UTSW	11	120,258,837 (GRCm39)	missense	probably damaging	1.00
R0513:Fscn2	UTSW	11	120,252,706 (GRCm39)	missense	probably damaging	1.00
R1451:Fscn2	UTSW	11	120,252,848 (GRCm39)	missense	probably damaging	0.98
R1620:Fscn2	UTSW	11	120,257,511 (GRCm39)	missense	probably damaging	1.00
R1736:Fscn2	UTSW	11	120,258,852 (GRCm39)	missense	probably damaging	1.00
R2212:Fscn2	UTSW	11	120,252,417 (GRCm39)	start gained	probably benign
R2327:Fscn2	UTSW	11	120,257,527 (GRCm39)	missense	probably damaging	1.00
R2384:Fscn2	UTSW	11	120,257,559 (GRCm39)	missense	possibly damaging	0.48
R2397:Fscn2	UTSW	11	120,252,995 (GRCm39)	missense	probably damaging	1.00
R4624:Fscn2	UTSW	11	120,258,169 (GRCm39)	missense	probably benign	0.21
R4634:Fscn2	UTSW	11	120,258,546 (GRCm39)	missense	possibly damaging	0.65
R4784:Fscn2	UTSW	11	120,258,813 (GRCm39)	missense	possibly damaging	0.82
R5084:Fscn2	UTSW	11	120,252,686 (GRCm39)	missense	probably damaging	0.96
R5514:Fscn2	UTSW	11	120,258,858 (GRCm39)	missense	probably damaging	1.00
R5780:Fscn2	UTSW	11	120,257,494 (GRCm39)	missense	probably benign	0.14
R6073:Fscn2	UTSW	11	120,252,613 (GRCm39)	nonsense	probably null
R6345:Fscn2	UTSW	11	120,252,853 (GRCm39)	missense	probably damaging	0.99
R7110:Fscn2	UTSW	11	120,257,580 (GRCm39)	missense	probably benign	0.19
R7170:Fscn2	UTSW	11	120,253,335 (GRCm39)	missense	probably damaging	0.98
R7171:Fscn2	UTSW	11	120,253,335 (GRCm39)	missense	probably damaging	0.98
R7538:Fscn2	UTSW	11	120,258,152 (GRCm39)	missense	possibly damaging	0.55
R7917:Fscn2	UTSW	11	120,258,082 (GRCm39)	missense	possibly damaging	0.79
R9468:Fscn2	UTSW	11	120,253,283 (GRCm39)	missense	probably damaging	1.00
R9541:Fscn2	UTSW	11	120,258,771 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGACTTCATGCTACCCCAAAG -3'
(R):5'- ATGACCGAAGTGACAGTGGTC -3'

Sequencing Primer
(F):5'- AAAGCACACTTCCCCATCCTTCTC -3'
(R):5'- CAGATCTCTGGGTTGGAAACTAC -3'

Posted On

2016-06-06