Incidental Mutation 'R0364:Crybb3'
ID65531
Institutional Source Beutler Lab
Gene Symbol Crybb3
Ensembl Gene ENSMUSG00000029352
Gene Namecrystallin, beta B3
Synonyms
MMRRC Submission 038570-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0364 (G1)
Quality Score219
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: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 99% (86/87)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G A 7: 28,611,128 probably benign Het
Ano7 A G 1: 93,388,658 D221G probably benign Het
Arhgef12 A T 9: 43,018,401 N199K probably damaging Het
Arpc2 A G 1: 74,236,887 N26S probably null Het
BC017158 C T 7: 128,290,614 R1H probably damaging Het
Camta2 G A 11: 70,683,310 T127I probably damaging Het
Ccdc13 T A 9: 121,798,216 N665I probably damaging Het
Ccdc178 C T 18: 21,915,062 R757H probably damaging Het
Cfap52 A C 11: 67,953,610 I93S possibly damaging Het
Cmklr1 A T 5: 113,614,517 L141H probably damaging 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
Dennd2a T C 6: 39,508,299 T349A probably benign Het
Dnah12 A G 14: 26,724,473 T730A probably benign Het
Dock5 G A 14: 67,822,680 probably benign Het
Elac2 A G 11: 64,979,310 Y67C probably damaging Het
Elmo1 A T 13: 20,564,493 K503* probably null Het
Endou A T 15: 97,718,973 probably benign Het
Eng T C 2: 32,679,137 S559P probably benign Het
Epc2 T A 2: 49,537,133 V563E possibly damaging Het
Fbxw17 T C 13: 50,432,441 S40P possibly damaging Het
Flt4 A T 11: 49,636,991 M924L probably benign Het
Fyb A G 15: 6,580,791 K282E probably damaging Het
Gabpa T A 16: 84,857,387 N317K possibly damaging 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
Gp1ba T C 11: 70,640,458 probably benign Het
Gpr146 G A 5: 139,379,178 probably benign Het
Grm5 A G 7: 88,074,386 Y628C probably damaging Het
Hexa A G 9: 59,563,935 N491D probably benign Het
Hexdc T A 11: 121,212,143 H62Q probably benign Het
Hpx G T 7: 105,596,264 Q101K probably benign Het
Ino80 G A 2: 119,382,960 R1249C probably damaging Het
Inpp4b A T 8: 81,997,314 T492S probably benign Het
Iqgap2 A C 13: 95,731,275 probably benign Het
Islr2 T C 9: 58,199,744 T78A possibly damaging Het
Itga9 A G 9: 118,841,142 T177A probably benign Het
Itpkc A C 7: 27,227,749 S247A possibly damaging Het
Kirrel T C 3: 87,089,799 Y287C probably damaging Het
Kiz T G 2: 146,942,156 S536R probably benign Het
Klhl9 T G 4: 88,720,290 K571N probably benign Het
Kprp A T 3: 92,824,335 Y469* probably null Het
Ksr1 A T 11: 79,029,025 probably benign Het
Lrrc37a C T 11: 103,500,640 V1320I possibly damaging Het
Ltf A T 9: 111,025,167 N350I probably benign Het
Msl3l2 G A 10: 56,115,851 R224Q possibly damaging Het
Myh6 A T 14: 54,948,347 Y1490* probably null Het
Necap1 A G 6: 122,880,769 probably benign Het
Nf1 A T 11: 79,441,957 K810* probably null Het
Nkx6-3 A G 8: 23,157,706 E227G possibly damaging Het
Nlrp1a T A 11: 71,114,004 probably benign Het
Obscn G A 11: 59,128,281 A969V probably benign Het
Olfr1080 A T 2: 86,553,779 L115Q probably damaging Het
Olfr850 G A 9: 19,477,972 Q90* probably null Het
Olfr889 A G 9: 38,116,029 T78A probably benign Het
Olfr96 T C 17: 37,226,043 L306P possibly damaging Het
Pcdhb17 C A 18: 37,485,835 A226E possibly damaging Het
Phldb1 A T 9: 44,699,335 probably benign Het
Plekha5 G A 6: 140,591,747 R646K possibly damaging Het
Pon2 G A 6: 5,266,156 Q288* probably null Het
Prr14 G A 7: 127,474,579 R205H probably benign 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
Scn5a T C 9: 119,522,599 D772G probably damaging Het
Slc7a5 A G 8: 121,885,015 F425L probably benign Het
Slk T A 19: 47,620,189 L527* probably null Het
Stpg4 T A 17: 87,389,714 probably null Het
Taar6 C A 10: 23,985,148 V167L probably benign Het
Tas2r123 T A 6: 132,847,681 S180R probably benign Het
Tmc2 C T 2: 130,202,103 R86W probably benign Het
Tmem200c T A 17: 68,840,548 V42E probably damaging Het
Trhde T C 10: 114,502,982 probably benign Het
Tshz1 A T 18: 84,016,124 I53N probably benign Het
Tshz3 A G 7: 36,770,533 E649G probably benign Het
Ttll7 C A 3: 146,945,181 R719S possibly damaging Het
Utp4 T C 8: 106,898,537 probably benign Het
Vmn1r35 A G 6: 66,678,843 I281T probably damaging Het
Vps39 T G 2: 120,345,638 K76T probably damaging Het
Wdr60 A G 12: 116,257,477 probably benign Het
Whamm A G 7: 81,594,051 T674A probably benign Het
Zbtb16 A G 9: 48,743,576 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 unclassified probably null
R0360: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
Predicted Primers
Posted On2013-08-08