Incidental Mutation 'R0360:Crybb3'
ID65659
Institutional Source Beutler Lab
Gene Symbol Crybb3
Ensembl Gene ENSMUSG00000029352
Gene Namecrystallin, beta B3
Synonyms
MMRRC Submission 038566-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0360 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location113075839-113081584 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 113075953 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 197 (I197F)
Ref Sequence ENSEMBL: ENSMUSP00000112718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076069] [ENSMUST00000117143] [ENSMUST00000118226] [ENSMUST00000119627] [ENSMUST00000120506] [ENSMUST00000131708] [ENSMUST00000136352] [ENSMUST00000140352]
Predicted Effect probably damaging
Transcript: ENSMUST00000076069
AA Change: I197F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075440
Gene: ENSMUSG00000029352
AA Change: I197F

DomainStartEndE-ValueType
XTALbg 25 107 7.5e-40 SMART
XTALbg 115 197 2.4e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117143
AA Change: I197F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113347
Gene: ENSMUSG00000029352
AA Change: I197F

DomainStartEndE-ValueType
XTALbg 25 107 7.5e-40 SMART
XTALbg 115 197 2.4e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118226
AA Change: I197F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112618
Gene: ENSMUSG00000029352
AA Change: I197F

DomainStartEndE-ValueType
XTALbg 25 107 7.7e-40 SMART
XTALbg 115 197 2.4e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119627
AA Change: I197F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113572
Gene: ENSMUSG00000029352
AA Change: I197F

DomainStartEndE-ValueType
XTALbg 25 107 7.5e-40 SMART
XTALbg 115 197 2.4e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120506
AA Change: I197F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112718
Gene: ENSMUSG00000029352
AA Change: I197F

DomainStartEndE-ValueType
XTALbg 25 107 7.5e-40 SMART
XTALbg 115 197 2.4e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131708
SMART Domains Protein: ENSMUSP00000115758
Gene: ENSMUSG00000029352

DomainStartEndE-ValueType
XTALbg 25 79 8.84e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134039
Predicted Effect probably benign
Transcript: ENSMUST00000136352
SMART Domains Protein: ENSMUSP00000121559
Gene: ENSMUSG00000029352

DomainStartEndE-ValueType
Pfam:Crystall 25 65 2.9e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140352
SMART Domains Protein: ENSMUSP00000121929
Gene: ENSMUSG00000029352

DomainStartEndE-ValueType
XTALbg 25 119 7.78e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155042
Meta Mutation Damage Score 0.6055 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
Validation Efficiency 98% (93/95)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. [provided by RefSeq, Feb 2013]
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G A 7: 28,611,128 probably benign Het
Adcyap1r1 G T 6: 55,475,523 probably benign Het
Ankrd6 T C 4: 32,836,424 T44A probably damaging Het
Ano7 A G 1: 93,388,658 D221G probably benign Het
Bhlhe40 C A 6: 108,664,750 N218K probably damaging Het
Bms1 A G 6: 118,405,290 V429A probably benign Het
C7 T A 15: 4,988,962 T800S probably benign Het
Camta2 G A 11: 70,683,310 T127I probably damaging Het
Ccdc13 T A 9: 121,798,216 N665I probably damaging Het
Ccdc157 T C 11: 4,146,663 E362G probably damaging Het
Ccdc73 T A 2: 104,981,007 N310K probably damaging Het
Cmklr1 A T 5: 113,614,517 L141H probably damaging Het
Cnst C A 1: 179,579,535 A49E probably benign Het
Col5a3 C T 9: 20,772,466 R1498Q unknown Het
Cryzl1 G A 16: 91,707,267 P97S probably benign Het
Cubn T C 2: 13,310,507 probably benign Het
Cyp2d37-ps T C 15: 82,690,052 noncoding transcript Het
Cyp4a12b C A 4: 115,432,920 N223K probably benign Het
D16Ertd472e A T 16: 78,547,885 C112S probably benign Het
Dennd2a T C 6: 39,508,299 T349A probably benign Het
Dock5 G A 14: 67,822,680 probably benign Het
Dpp6 T C 5: 27,652,269 L404P probably damaging Het
Dsc3 T A 18: 19,971,582 T563S possibly damaging Het
Dync2h1 T A 9: 7,113,182 E214D possibly damaging Het
Elac2 A G 11: 64,979,310 Y67C probably damaging Het
Elmo1 A T 13: 20,564,493 K503* probably null Het
Eng T C 2: 32,679,137 S559P probably benign Het
Epc2 T A 2: 49,537,133 V563E possibly damaging Het
Fancm A G 12: 65,075,950 Y82C probably damaging Het
Flt4 A T 11: 49,636,991 M924L probably benign Het
Gabpa T A 16: 84,857,387 N317K possibly damaging Het
Gchfr T G 2: 119,167,846 Y3* probably null Het
Gli3 G T 13: 15,724,764 G912V probably benign Het
Gm10295 C A 7: 71,350,613 C73F unknown Het
Gm10382 G T 5: 125,389,664 probably benign Het
Gm6614 A C 6: 141,982,327 probably benign Het
Gp1ba T C 11: 70,640,458 probably benign Het
Gpr146 G A 5: 139,379,178 probably benign Het
Hexdc T A 11: 121,212,143 H62Q probably benign Het
Hgd T A 16: 37,611,184 probably benign Het
Hs6st1 G A 1: 36,069,185 probably null Het
Icam4 A G 9: 21,029,821 Y123C probably damaging Het
Il24 A G 1: 130,883,937 V134A probably damaging Het
Iqcb1 G T 16: 36,872,308 A562S probably damaging Het
Iqgap2 A C 13: 95,731,275 probably benign Het
Islr2 T C 9: 58,199,744 T78A possibly damaging Het
Kif1b A G 4: 149,262,729 I330T probably damaging Het
Kirrel T C 3: 87,089,799 Y287C probably damaging Het
Klf10 C T 15: 38,296,846 V317M probably benign Het
Klhl9 T G 4: 88,720,290 K571N probably benign Het
Lin37 T C 7: 30,557,013 I97V possibly damaging Het
Lrrc37a C T 11: 103,500,640 V1320I possibly damaging Het
Lrrc74a A G 12: 86,737,795 H99R probably damaging Het
Maats1 T A 16: 38,298,297 probably null Het
Me3 T A 7: 89,786,414 probably null Het
Med13 T C 11: 86,329,161 probably benign Het
Myh6 A T 14: 54,948,347 Y1490* probably null Het
Myo10 T C 15: 25,804,368 L1583P probably damaging Het
Nkx6-3 A G 8: 23,157,706 E227G possibly damaging Het
Nlrp1a T A 11: 71,114,004 probably benign Het
Nlrp5-ps A C 7: 14,583,091 noncoding transcript Het
Nup188 T G 2: 30,326,479 I765S probably null Het
Obscn G A 11: 59,128,281 A969V probably benign Het
Olfr1080 A T 2: 86,553,779 L115Q probably damaging Het
Olfr348 T A 2: 36,787,440 M305K probably benign Het
Olfr76 G T 19: 12,119,853 D286E possibly damaging Het
Olfr96 T C 17: 37,226,043 L306P possibly damaging Het
Otogl T A 10: 107,770,650 probably benign Het
Pcnx3 G A 19: 5,665,583 R1472W probably damaging Het
Plekha5 G A 6: 140,591,747 R646K possibly damaging Het
Plscr4 T A 9: 92,488,761 probably benign Het
Pon2 G A 6: 5,266,156 Q288* probably null Het
Ptpn13 C A 5: 103,533,348 R805S probably damaging Het
Pyroxd2 A T 19: 42,747,553 V62D probably damaging Het
Rab37 G T 11: 115,156,964 C44F probably damaging Het
Rbm44 T C 1: 91,152,347 S52P probably benign Het
Rgl3 A G 9: 21,976,857 W454R probably damaging Het
Rita1 A G 5: 120,609,772 S154P probably benign Het
Scn5a T C 9: 119,522,599 D772G probably damaging Het
Sec23ip G A 7: 128,761,405 probably benign Het
Slc23a1 T A 18: 35,622,979 probably benign Het
Sparcl1 T A 5: 104,089,637 D444V probably damaging Het
Taar6 C A 10: 23,985,148 V167L probably benign Het
Tmcc3 T A 10: 94,578,545 N36K probably benign Het
Tmem200c T A 17: 68,840,548 V42E probably damaging Het
Trhde T C 10: 114,502,982 probably benign Het
Tshz3 A G 7: 36,770,533 E649G probably benign Het
Utp4 T C 8: 106,898,537 probably benign Het
Vmn1r30 A G 6: 58,435,277 V190A probably benign Het
Vmn1r35 A G 6: 66,678,843 I281T probably damaging Het
Vmn1r58 G T 7: 5,410,330 H300Q probably benign Het
Vmn1r84 A G 7: 12,361,872 L286P probably damaging Het
Vmn2r54 A T 7: 12,615,649 C669S probably damaging Het
Wdr61 A T 9: 54,727,578 probably benign Het
Zfp623 T C 15: 75,948,661 S489P probably benign Het
Other mutations in Crybb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01397:Crybb3 APN 5 113079835 missense probably damaging 0.99
R0125:Crybb3 UTSW 5 113079809 missense possibly damaging 0.70
R0279:Crybb3 UTSW 5 113079753 splice site probably null
R0364:Crybb3 UTSW 5 113075953 missense probably damaging 0.99
R1083:Crybb3 UTSW 5 113080578 utr 5 prime probably benign
R1687:Crybb3 UTSW 5 113079767 missense probably damaging 1.00
R4031:Crybb3 UTSW 5 113079869 missense probably damaging 1.00
R7719:Crybb3 UTSW 5 113075968 missense probably damaging 1.00
R8155:Crybb3 UTSW 5 113077600 missense probably damaging 1.00
R8334:Crybb3 UTSW 5 113075979 missense possibly damaging 0.48
Predicted Primers
Posted On2013-08-08