Incidental Mutation 'R7170:Fscn2'
ID 558209
Institutional Source Beutler Lab
Gene Symbol Fscn2
Ensembl Gene ENSMUSG00000025380
Gene Name fascin actin-bundling protein 2
Synonyms ahl8, C630046B20Rik
MMRRC Submission 045332-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R7170 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 120252360-120258994 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 120253335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 267 (N267K)
Ref Sequence ENSEMBL: ENSMUSP00000026445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026445]
AlphaFold Q32M02
Predicted Effect probably damaging
Transcript: ENSMUST00000026445
AA Change: N267K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026445
Gene: ENSMUSG00000025380
AA Change: N267K

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.6655 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (81/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,836,654 (GRCm39) T1214A probably benign Het
Acte1 T C 7: 143,450,102 (GRCm39) S285P probably damaging Het
Adgrf5 G A 17: 43,757,029 (GRCm39) V708M possibly damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Ankrd7 T A 6: 18,868,389 (GRCm39) Y170* probably null Het
Aplp2 T C 9: 31,081,739 (GRCm39) D236G probably benign Het
Apoa5 T C 9: 46,181,437 (GRCm39) M171T probably benign Het
Bcas3 T C 11: 85,386,744 (GRCm39) V393A probably damaging Het
Ccdc47 T C 11: 106,093,304 (GRCm39) N370S probably benign Het
Cfap77 A T 2: 28,875,854 (GRCm39) Y85* probably null Het
Col4a3 G A 1: 82,693,630 (GRCm39) probably null Het
Crnn T A 3: 93,056,020 (GRCm39) S269T possibly damaging Het
Crocc2 G A 1: 93,121,704 (GRCm39) A618T possibly damaging Het
D030056L22Rik A G 19: 18,690,737 (GRCm39) K17R possibly damaging Het
Emx1 G A 6: 85,164,983 (GRCm39) G20D probably benign Het
Fabp3 A G 4: 130,207,763 (GRCm39) D88G probably benign Het
Fam124a A C 14: 62,824,629 (GRCm39) D41A probably damaging Het
Fanca T C 8: 123,997,945 (GRCm39) E1247G probably damaging Het
Fat3 T C 9: 15,917,870 (GRCm39) R1518G probably damaging Het
Fgf12 T C 16: 28,263,931 (GRCm39) I5V probably benign Het
Ftdc1 G T 16: 58,436,091 (GRCm39) C77* probably null Het
Fubp3 A G 2: 31,488,632 (GRCm39) T163A probably benign Het
Gask1a G T 9: 121,807,301 (GRCm39) A482S probably damaging Het
Gne A G 4: 44,040,361 (GRCm39) L601P possibly damaging Het
Gphn T C 12: 78,730,663 (GRCm39) V766A possibly damaging Het
Hsf1 G T 15: 76,384,221 (GRCm39) G402C probably damaging Het
Ift81 A T 5: 122,693,596 (GRCm39) Y604* probably null Het
Iqgap3 T A 3: 88,009,370 (GRCm39) I768N probably damaging Het
Kazald1 A T 19: 45,066,855 (GRCm39) D218V probably benign Het
Kmt2a T C 9: 44,722,018 (GRCm39) N3776D unknown Het
Ktn1 T C 14: 47,943,867 (GRCm39) L872S probably damaging Het
Lama3 T G 18: 12,537,133 (GRCm39) F259L probably benign Het
Mfsd6 A G 1: 52,701,547 (GRCm39) probably null Het
Mical3 A T 6: 120,950,694 (GRCm39) probably null Het
Mob3b A G 4: 35,083,839 (GRCm39) Y117H probably damaging Het
Mrpl2 G A 17: 46,959,181 (GRCm39) G95D probably damaging Het
Mstn A T 1: 53,105,554 (GRCm39) I299F probably damaging Het
Mta3 C T 17: 84,022,091 (GRCm39) R49W probably damaging Het
Mylk3 A G 8: 86,077,114 (GRCm39) F574L probably damaging Het
Naca T A 10: 127,875,990 (GRCm39) S341T unknown Het
Ncoa1 T C 12: 4,299,722 (GRCm39) D1401G probably benign Het
Nedd4 T A 9: 72,577,381 (GRCm39) Y69N probably benign Het
Nin T C 12: 70,091,013 (GRCm39) T801A Het
Nsd1 T A 13: 55,409,439 (GRCm39) L1336* probably null Het
Nudt16l2 C A 9: 105,020,600 (GRCm39) probably null Het
Oprk1 G A 1: 5,672,619 (GRCm39) R252H probably damaging Het
Or4c10b A T 2: 89,711,397 (GRCm39) T76S possibly damaging Het
Or4c10b A G 2: 89,711,185 (GRCm39) N5S probably benign Het
Or5w15 C T 2: 87,568,056 (GRCm39) G204D probably damaging Het
Pcdhga11 T C 18: 37,889,717 (GRCm39) F242L probably damaging Het
Pof1b A G X: 111,554,042 (GRCm39) I544T probably benign Het
Pold1 T C 7: 44,191,572 (GRCm39) H138R possibly damaging Het
Ptprd A T 4: 75,990,199 (GRCm39) D504E probably benign Het
Rabgap1l A G 1: 160,472,935 (GRCm39) V501A probably damaging Het
Rimklb T C 6: 122,429,697 (GRCm39) N233S probably benign Het
Rnf213 A G 11: 119,343,401 (GRCm39) I3589V Het
Rora T A 9: 69,280,472 (GRCm39) C348* probably null Het
Sdhaf3 T C 6: 6,956,043 (GRCm39) V6A probably benign Het
Serpina3m T A 12: 104,355,777 (GRCm39) L148Q probably damaging Het
Sik1 T C 17: 32,067,746 (GRCm39) D443G possibly damaging Het
Sim2 A G 16: 93,923,559 (GRCm39) T366A probably benign Het
Slc32a1 T C 2: 158,453,243 (GRCm39) F28L probably damaging Het
Sorbs1 A T 19: 40,314,573 (GRCm39) Y746* probably null Het
Speer4b T A 5: 27,703,821 (GRCm39) N106I possibly damaging Het
Sphkap A G 1: 83,243,706 (GRCm39) S1269P probably damaging Het
Tcf4 T C 18: 69,766,649 (GRCm39) V205A probably damaging Het
Thsd7a C T 6: 12,352,090 (GRCm39) R1035H Het
Tmprss11c A T 5: 86,385,478 (GRCm39) probably null Het
Trim50 A G 5: 135,396,365 (GRCm39) T438A probably benign Het
Ttc21a C T 9: 119,774,607 (GRCm39) P287L probably damaging Het
Ttc41 C T 10: 86,549,367 (GRCm39) S187L probably benign Het
Ttll3 C T 6: 113,390,839 (GRCm39) P807L probably benign Het
Ttn A C 2: 76,597,696 (GRCm39) V19739G probably benign Het
Usp15 C A 10: 123,007,100 (GRCm39) C127F probably damaging Het
Vmn2r100 G T 17: 19,752,233 (GRCm39) A822S probably benign Het
Zan A T 5: 137,461,756 (GRCm39) V1141D unknown Het
Zfp457 A T 13: 67,442,241 (GRCm39) C111* probably null Het
Zfp758 C T 17: 22,594,116 (GRCm39) Q201* probably null Het
Zkscan2 T C 7: 123,099,030 (GRCm39) E54G possibly damaging Het
Other mutations in Fscn2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R5062:Fscn2 UTSW 11 120,257,575 (GRCm39) missense probably damaging 1.00
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
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'- CTACACGCTGGAGTTCAAGG -3'
(R):5'- AATCTTCGAGGCAGCTGCAG -3'

Sequencing Primer
(F):5'- TTCAAGGCAGGCAAGCTG -3'
(R):5'- GTCTAGCAGGCACCACATTTG -3'
Posted On 2019-06-26