Incidental Mutation 'R1736:Fscn2'
ID 199734
Institutional Source Beutler Lab
Gene Symbol Fscn2
Ensembl Gene ENSMUSG00000025380
Gene Name fascin actin-bundling protein 2
Synonyms ahl8, C630046B20Rik
MMRRC Submission 039768-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R1736 (G1)
Quality Score 219
Status Validated
Chromosome 11
Chromosomal Location 120252360-120258994 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120258852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 466 (G466S)
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: G466S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026445
Gene: ENSMUSG00000025380
AA Change: G466S

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
Predicted Effect probably benign
Transcript: ENSMUST00000026448
SMART Domains Protein: ENSMUSP00000026448
Gene: ENSMUSG00000025384

DomainStartEndE-ValueType
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: ENSMUST00000134771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154826
Meta Mutation Damage Score 0.3503 question?
Coding Region Coverage
  • 1x: 97.6%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency 97% (57/59)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adcy3 A G 12: 4,250,998 (GRCm39) N586D possibly damaging Het
Ak6 T A 13: 100,791,689 (GRCm39) probably null Het
Ankrd66 T C 17: 43,854,409 (GRCm39) D41G probably benign Het
Atp8b2 G A 3: 89,860,001 (GRCm39) P339S probably damaging Het
Cacna1d C T 14: 29,811,820 (GRCm39) V1297I probably damaging Het
Cbl A T 9: 44,064,192 (GRCm39) D781E possibly damaging Het
Cep295 C T 9: 15,252,179 (GRCm39) E397K probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Clint1 A G 11: 45,797,004 (GRCm39) probably null Het
Col6a3 A G 1: 90,706,781 (GRCm39) Y2111H unknown Het
Csnk1g1 A G 9: 65,927,197 (GRCm39) probably null Het
Dse A T 10: 34,029,145 (GRCm39) N648K probably damaging Het
Dsp A G 13: 38,376,966 (GRCm39) K1584E probably benign Het
Ezh2 A T 6: 47,553,594 (GRCm39) M41K probably damaging Het
Garin5b A G 7: 4,761,153 (GRCm39) S520P probably damaging Het
Gm15217 A G 14: 46,620,663 (GRCm39) probably benign Het
Gm9696 T C 3: 59,879,696 (GRCm39) noncoding transcript Het
Gosr2 G A 11: 103,570,076 (GRCm39) Q162* probably null Het
Hectd4 T A 5: 121,487,593 (GRCm39) H3529Q possibly damaging Het
Klf7 C A 1: 64,118,372 (GRCm39) R75L possibly damaging Het
Kmt2c A T 5: 25,495,525 (GRCm39) I4074K probably damaging Het
Ly6g2 G A 15: 75,089,569 (GRCm39) G26R probably damaging Het
Map3k11 A G 19: 5,747,429 (GRCm39) D555G probably benign Het
Mindy2 A G 9: 70,538,312 (GRCm39) I341T probably damaging Het
Mrnip G A 11: 50,067,718 (GRCm39) probably null Het
Muc5b G A 7: 141,412,844 (GRCm39) C1930Y unknown Het
Nfatc3 T G 8: 106,805,482 (GRCm39) I109S probably damaging Het
Npas1 G T 7: 16,208,541 (GRCm39) A112D probably benign Het
Npffr2 T A 5: 89,715,925 (GRCm39) I84N probably damaging Het
Nxph4 T A 10: 127,362,465 (GRCm39) H142L probably damaging Het
Otud4 T A 8: 80,378,294 (GRCm39) probably benign Het
Per3 A G 4: 151,093,705 (GRCm39) probably null Het
Pigr G A 1: 130,769,540 (GRCm39) R117Q possibly damaging Het
Plec C T 15: 76,070,418 (GRCm39) V931M probably damaging Het
Prex2 T A 1: 11,160,108 (GRCm39) probably benign Het
Sall4 G A 2: 168,594,555 (GRCm39) P420L probably benign Het
Sap30bp A G 11: 115,855,046 (GRCm39) K252R probably damaging Het
Sec63 T A 10: 42,703,914 (GRCm39) Y692* probably null Het
Sema3e C T 5: 14,260,390 (GRCm39) T181M probably damaging Het
Sf3b3 T C 8: 111,540,464 (GRCm39) I986V probably benign Het
Shisa4 A T 1: 135,299,700 (GRCm39) Y194* probably null Het
Slc17a6 G A 7: 51,311,333 (GRCm39) probably benign Het
Smg1 T G 7: 117,765,190 (GRCm39) probably null Het
Smim7 C T 8: 73,324,849 (GRCm39) G9R probably damaging Het
Spata31d1d C T 13: 59,874,311 (GRCm39) G1075R probably benign Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Stag3 T C 5: 138,302,771 (GRCm39) probably benign Het
Tbce A G 13: 14,184,227 (GRCm39) I217T possibly damaging Het
Tpk1 G A 6: 43,588,284 (GRCm39) P27S probably benign Het
Tsc22d1 A G 14: 76,655,797 (GRCm39) I2V probably benign Het
Tulp4 T G 17: 6,283,490 (GRCm39) V1173G possibly damaging Het
Uchl1 T C 5: 66,834,417 (GRCm39) probably null Het
Ugt2b38 T A 5: 87,571,492 (GRCm39) Q180L probably benign 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
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
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'- TGGACACCAACCGTTCCACTTACG -3'
(R):5'- AGGACCCTTCCTACTACCAAATGGC -3'

Sequencing Primer
(F):5'- CCACTTGAGCTTCAGGGATG -3'
(R):5'- TCCTACTACCAAATGGCAGCTTG -3'
Posted On 2014-05-23