Incidental Mutation 'R8949:Bfsp2'
ID 681523
Institutional Source Beutler Lab
Gene Symbol Bfsp2
Ensembl Gene ENSMUSG00000032556
Gene Name beaded filament structural protein 2, phakinin
Synonyms CP49
MMRRC Submission 068787-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R8949 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 103302123-103357608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103327152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 195 (N195S)
Ref Sequence ENSEMBL: ENSMUSP00000116249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124310]
AlphaFold Q6NVD9
Predicted Effect probably benign
Transcript: ENSMUST00000124310
AA Change: N195S

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000116249
Gene: ENSMUSG00000032556
AA Change: N195S

DomainStartEndE-ValueType
Filament 102 416 6.85e-79 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]
PHENOTYPE: Mutations at this locus result in eye abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm T A 5: 90,679,374 (GRCm39) C289* probably null Het
Agpat3 A G 10: 78,118,989 (GRCm39) Y202H probably benign Het
Atg4b T A 1: 93,715,479 (GRCm39) *394R probably null Het
Atxn2l A T 7: 126,091,377 (GRCm39) H1037Q probably damaging Het
Baz1a T C 12: 54,941,238 (GRCm39) Y1504C probably damaging Het
Bmpr1b T G 3: 141,586,203 (GRCm39) S20R possibly damaging Het
Bmpr2 C T 1: 59,906,860 (GRCm39) P651L possibly damaging Het
Cfh G T 1: 140,026,705 (GRCm39) D549E probably damaging Het
Cndp2 A G 18: 84,693,130 (GRCm39) L210P probably damaging Het
Col12a1 C A 9: 79,581,970 (GRCm39) R1427L probably benign Het
Col6a5 C T 9: 105,822,833 (GRCm39) E175K unknown Het
Dhx32 A T 7: 133,344,470 (GRCm39) Y46* probably null Het
Dnah9 A G 11: 66,059,226 (GRCm39) L23P possibly damaging Het
Eef2 T A 10: 81,014,518 (GRCm39) V135E probably damaging Het
Eef2k A T 7: 120,491,211 (GRCm39) I2F probably damaging Het
Gzmg C T 14: 56,396,926 (GRCm39) probably null Het
Hr T C 14: 70,795,328 (GRCm39) I320T probably benign Het
Hs3st2 A G 7: 121,100,017 (GRCm39) I288V probably benign Het
Ighv1-31 T C 12: 114,793,036 (GRCm39) I67V probably benign Het
Krtap6-2 T C 16: 89,216,703 (GRCm39) Y88C unknown Het
Ksr2 T C 5: 117,823,560 (GRCm39) C446R possibly damaging Het
Lct A T 1: 128,221,929 (GRCm39) W1537R probably damaging Het
Lrp1 T A 10: 127,425,405 (GRCm39) probably benign Het
Map3k13 A G 16: 21,723,882 (GRCm39) H288R probably benign Het
Mettl25 A G 10: 105,668,714 (GRCm39) V136A probably benign Het
Muc16 A G 9: 18,432,221 (GRCm39) probably null Het
Ndufv3 A G 17: 31,746,742 (GRCm39) K211E possibly damaging Het
Nkiras2 A T 11: 100,510,158 (GRCm39) probably benign Het
Nudcd1 T C 15: 44,251,971 (GRCm39) E396G probably benign Het
Or4g16 T A 2: 111,137,379 (GRCm39) F276L probably damaging Het
Or52a33 A T 7: 103,288,702 (GRCm39) I215K probably damaging Het
Or5b104 A T 19: 13,072,490 (GRCm39) M1K probably null Het
Phaf1 T A 8: 105,976,075 (GRCm39) I344K probably benign Het
Sgk3 A G 1: 9,938,699 (GRCm39) probably benign Het
Sgsm3 A G 15: 80,894,612 (GRCm39) Y544C probably damaging Het
Sirt1 T C 10: 63,161,964 (GRCm39) E307G probably damaging Het
Skint6 T A 4: 112,931,296 (GRCm39) Q498H probably benign Het
Smpdl3b T C 4: 132,473,814 (GRCm39) K84E probably benign Het
Spata31h1 A G 10: 82,123,753 (GRCm39) F3086L probably benign Het
Spcs2 A G 7: 99,493,923 (GRCm39) S186P probably benign Het
Speer4e2 C T 5: 15,026,212 (GRCm39) probably null Het
Steap1 A T 5: 5,789,940 (GRCm39) D24E probably damaging Het
Svep1 T C 4: 58,054,604 (GRCm39) E3328G possibly damaging Het
Syt17 A G 7: 118,033,054 (GRCm39) probably null Het
Tdpoz3 T C 3: 93,734,399 (GRCm39) V358A probably benign Het
Tecrl C T 5: 83,461,154 (GRCm39) R101Q probably benign Het
Tmem184a C A 5: 139,791,311 (GRCm39) A426S probably benign Het
Tnc T C 4: 63,927,087 (GRCm39) D813G probably damaging Het
Top1 A G 2: 160,547,182 (GRCm39) T419A possibly damaging Het
Ttll4 T C 1: 74,720,975 (GRCm39) I547T probably damaging Het
Vmn1r193 T C 13: 22,403,920 (GRCm39) D24G possibly damaging Het
Wfs1 C T 5: 37,124,287 (GRCm39) R792H probably damaging Het
Zfp607a A G 7: 27,577,944 (GRCm39) D338G possibly damaging Het
Zfp949 C T 9: 88,450,771 (GRCm39) R114C possibly damaging Het
Other mutations in Bfsp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Bfsp2 APN 9 103,330,297 (GRCm39) missense possibly damaging 0.90
IGL01160:Bfsp2 APN 9 103,357,367 (GRCm39) missense probably benign 0.02
R0408:Bfsp2 UTSW 9 103,357,299 (GRCm39) missense probably benign 0.06
R0463:Bfsp2 UTSW 9 103,303,854 (GRCm39) missense possibly damaging 0.94
R1454:Bfsp2 UTSW 9 103,357,424 (GRCm39) start codon destroyed probably null 0.59
R1854:Bfsp2 UTSW 9 103,327,030 (GRCm39) missense probably benign 0.01
R2139:Bfsp2 UTSW 9 103,327,074 (GRCm39) missense probably benign 0.19
R2187:Bfsp2 UTSW 9 103,303,976 (GRCm39) nonsense probably null
R3975:Bfsp2 UTSW 9 103,357,271 (GRCm39) missense probably benign 0.00
R4823:Bfsp2 UTSW 9 103,357,082 (GRCm39) missense probably damaging 1.00
R5035:Bfsp2 UTSW 9 103,357,065 (GRCm39) missense probably benign 0.35
R5973:Bfsp2 UTSW 9 103,309,856 (GRCm39) critical splice donor site probably null
R6005:Bfsp2 UTSW 9 103,325,749 (GRCm39) missense probably damaging 0.99
R6106:Bfsp2 UTSW 9 103,357,023 (GRCm39) missense probably benign 0.09
R6348:Bfsp2 UTSW 9 103,357,271 (GRCm39) missense probably benign 0.17
R6364:Bfsp2 UTSW 9 103,325,827 (GRCm39) missense probably damaging 0.98
R6701:Bfsp2 UTSW 9 103,357,077 (GRCm39) missense possibly damaging 0.68
R6736:Bfsp2 UTSW 9 103,357,403 (GRCm39) missense possibly damaging 0.60
R7129:Bfsp2 UTSW 9 103,357,118 (GRCm39) missense probably damaging 0.99
R7204:Bfsp2 UTSW 9 103,309,865 (GRCm39) missense probably damaging 0.99
R7329:Bfsp2 UTSW 9 103,327,121 (GRCm39) missense probably benign 0.01
R7453:Bfsp2 UTSW 9 103,330,306 (GRCm39) missense probably damaging 1.00
R8933:Bfsp2 UTSW 9 103,325,848 (GRCm39) missense probably benign 0.00
R9515:Bfsp2 UTSW 9 103,357,251 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GACCTGTGTTACAAGGTTACAGC -3'
(R):5'- TGCAGCAATAGCAGTAACGG -3'

Sequencing Primer
(F):5'- GTTACAAGGTTACAGCCTCCCG -3'
(R):5'- CAATAGCAGTAACGGGGTCCC -3'
Posted On 2021-08-31