Incidental Mutation 'R0279:Crybb3'
ID24539
Institutional Source Beutler Lab
Gene Symbol Crybb3
Ensembl Gene ENSMUSG00000029352
Gene Namecrystallin, beta B3
Synonyms
MMRRC Submission 038501-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0279 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location113075839-113081584 bp(-) (GRCm38)
Type of Mutationunclassified (4 bp from exon)
DNA Base Change (assembly) T to C at 113079753 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076069] [ENSMUST00000117143] [ENSMUST00000118226] [ENSMUST00000119627] [ENSMUST00000120506] [ENSMUST00000131708] [ENSMUST00000136352] [ENSMUST00000136352] [ENSMUST00000140352]
Predicted Effect probably benign
Transcript: ENSMUST00000076069
SMART Domains Protein: ENSMUSP00000075440
Gene: ENSMUSG00000029352

DomainStartEndE-ValueType
XTALbg 25 107 7.5e-40 SMART
XTALbg 115 197 2.4e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117143
SMART Domains Protein: ENSMUSP00000113347
Gene: ENSMUSG00000029352

DomainStartEndE-ValueType
XTALbg 25 107 7.5e-40 SMART
XTALbg 115 197 2.4e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118226
SMART Domains Protein: ENSMUSP00000112618
Gene: ENSMUSG00000029352

DomainStartEndE-ValueType
XTALbg 25 107 7.7e-40 SMART
XTALbg 115 197 2.4e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119627
SMART Domains Protein: ENSMUSP00000113572
Gene: ENSMUSG00000029352

DomainStartEndE-ValueType
XTALbg 25 107 7.5e-40 SMART
XTALbg 115 197 2.4e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120506
SMART Domains Protein: ENSMUSP00000112718
Gene: ENSMUSG00000029352

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 null
Transcript: ENSMUST00000136352
SMART Domains Protein: ENSMUSP00000121559
Gene: ENSMUSG00000029352

DomainStartEndE-ValueType
Pfam:Crystall 25 65 2.9e-12 PFAM
Predicted Effect probably null
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 0.9755 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 95.1%
  • 20x: 89.6%
Validation Efficiency 99% (82/83)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik T A 17: 56,885,169 Y577* probably null Het
2610528J11Rik A T 4: 118,529,293 M1L probably benign Het
5730596B20Rik T A 6: 52,179,202 probably benign Het
Acrbp T C 6: 125,053,954 probably null Het
Acss3 A G 10: 107,084,871 I126T possibly damaging Het
Aff3 T C 1: 38,535,569 E110G probably damaging Het
Aldh1a3 T C 7: 66,409,252 I113V probably benign Het
Aplp2 T C 9: 31,157,790 E525G probably damaging Het
Atp2b4 A G 1: 133,729,702 probably benign Het
Atp8a1 C T 5: 67,813,092 probably null Het
Bhmt A G 13: 93,625,464 C104R probably damaging Het
Ccdc151 A G 9: 21,990,247 probably benign Het
Cct5 T G 15: 31,591,031 E508A probably damaging Het
Celsr1 T A 15: 85,902,864 E2761D probably benign Het
Clstn1 T C 4: 149,643,674 S600P probably damaging Het
Cnppd1 A G 1: 75,136,929 S232P probably damaging Het
Csmd1 A G 8: 16,223,235 I861T probably damaging Het
Cyp2d10 A C 15: 82,405,339 S191A possibly damaging Het
Ddx10 T C 9: 53,235,304 D206G probably damaging Het
Dnah1 G T 14: 31,302,375 H916N possibly damaging Het
Dnah9 A G 11: 65,911,789 probably null Het
Epb42 G A 2: 121,029,044 probably benign Het
Etnppl A G 3: 130,629,413 R248G probably damaging Het
Eya3 T C 4: 132,719,247 F369L probably damaging Het
Fam129a T C 1: 151,709,206 probably null Het
Fam170b T C 14: 32,834,068 probably benign Het
Fli1 A T 9: 32,461,427 V105D probably damaging Het
Fmo1 T C 1: 162,830,272 I433M possibly damaging Het
Fndc3b C A 3: 27,457,006 C785F probably benign Het
Foxe3 T C 4: 114,925,568 D149G probably damaging Het
Gk5 T C 9: 96,174,804 probably benign Het
Gm14226 A G 2: 155,025,452 D443G possibly damaging Het
Gm9796 C T 11: 95,697,995 noncoding transcript Het
Golga4 A T 9: 118,568,993 R52S probably benign Het
Hey2 C A 10: 30,834,010 C249F probably damaging Het
Ipo9 A T 1: 135,420,363 probably benign Het
Ireb2 C A 9: 54,886,593 T269K probably benign Het
Kansl3 A G 1: 36,351,969 V274A probably damaging Het
Kcnk2 C T 1: 189,209,972 A352T possibly damaging Het
Lamc2 T C 1: 153,130,696 E903G probably benign Het
Lepr A G 4: 101,750,344 K253R probably benign Het
Lmntd2 T C 7: 141,213,623 probably benign Het
Lrrc39 A T 3: 116,578,303 T240S probably benign Het
Lrrc43 A G 5: 123,497,022 probably null Het
Maf T C 8: 115,705,756 M370V possibly damaging Het
Mib2 G A 4: 155,661,216 S46L possibly damaging Het
Mms22l C T 4: 24,497,867 T63I probably damaging Het
Morc2a T A 11: 3,683,989 S700R probably benign Het
Mpz A G 1: 171,159,929 probably benign Het
Ncam2 T C 16: 81,623,337 probably benign Het
Nudt14 C T 12: 112,938,417 A123T probably damaging Het
Olfr1016 A T 2: 85,799,535 I245N possibly damaging Het
Olfr13 G A 6: 43,174,758 M257I probably benign Het
Olfr239 C T 17: 33,199,324 T92I probably benign Het
Otoa T C 7: 121,111,079 probably benign Het
Pik3cg G A 12: 32,204,791 T399I probably damaging Het
Pkn3 C T 2: 30,083,297 A377V probably benign Het
Ppan A G 9: 20,891,529 N327S probably benign Het
Prkca T C 11: 108,054,111 probably benign Het
Prrc2c A T 1: 162,715,464 V320E probably damaging Het
Ptprq A G 10: 107,608,417 V1442A probably damaging Het
Rapgef1 C T 2: 29,726,227 R834C probably damaging Het
Rbms1 G T 2: 60,842,410 N44K probably damaging Het
Rfwd3 A C 8: 111,282,733 F404V probably benign Het
Rimbp3 G T 16: 17,209,453 R247L probably benign Het
Serpinb1b T C 13: 33,093,713 S310P possibly damaging Het
Smtn C A 11: 3,530,235 V329L probably damaging Het
Snapc2 T C 8: 4,254,979 probably benign Het
Spam1 A T 6: 24,800,419 M386L probably benign Het
Syne2 A G 12: 76,095,613 E6208G probably damaging Het
Teddm1a T C 1: 153,892,623 Y278H probably damaging Het
Tnfaip6 A T 2: 52,055,916 N258I possibly damaging Het
Trpm4 C T 7: 45,322,048 R188Q probably damaging Het
Ttbk2 A T 2: 120,748,960 H491Q probably benign Het
Urgcp C T 11: 5,716,989 E450K probably benign Het
Vmn1r228 T C 17: 20,776,375 N294D probably benign Het
Wdfy3 A T 5: 101,868,092 C2606S probably damaging Het
Wdr33 T A 18: 31,888,324 H642Q unknown Het
Zbtb46 A G 2: 181,411,774 S382P possibly damaging Het
Zfp217 A G 2: 170,119,780 I209T probably benign Het
Zranb3 T A 1: 127,963,773 N822I 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
R0360:Crybb3 UTSW 5 113075953 missense probably damaging 0.99
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
Predicted Primers PCR Primer
(F):5'- TGGTGCTAACTCTGAGCTGGACAC -3'
(R):5'- TGAGGCTGCCCTGCTGATTTTC -3'

Sequencing Primer
(F):5'- cgccaCAGGAACTTATGGAT -3'
(R):5'- AGTTGCTCACTGAGGTCAC -3'
Posted On2013-04-16