Incidental Mutation 'R1687:Crybb3'
ID 189413
Institutional Source Beutler Lab
Gene Symbol Crybb3
Ensembl Gene ENSMUSG00000029352
Gene Name crystallin, beta B3
Synonyms
MMRRC Submission 039720-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1687 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 113223705-113229450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113227633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 63 (S63P)
Ref Sequence ENSEMBL: ENSMUSP00000112718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076069] [ENSMUST00000117143] [ENSMUST00000118226] [ENSMUST00000119627] [ENSMUST00000120506] [ENSMUST00000131708] [ENSMUST00000140352] [ENSMUST00000136352]
AlphaFold Q9JJU9
Predicted Effect probably damaging
Transcript: ENSMUST00000076069
AA Change: S63P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075440
Gene: ENSMUSG00000029352
AA Change: S63P

DomainStartEndE-ValueType
XTALbg 25 107 7.5e-40 SMART
XTALbg 115 197 2.4e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117143
AA Change: S63P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113347
Gene: ENSMUSG00000029352
AA Change: S63P

DomainStartEndE-ValueType
XTALbg 25 107 7.5e-40 SMART
XTALbg 115 197 2.4e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118226
AA Change: S63P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112618
Gene: ENSMUSG00000029352
AA Change: S63P

DomainStartEndE-ValueType
XTALbg 25 107 7.7e-40 SMART
XTALbg 115 197 2.4e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119627
AA Change: S63P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113572
Gene: ENSMUSG00000029352
AA Change: S63P

DomainStartEndE-ValueType
XTALbg 25 107 7.5e-40 SMART
XTALbg 115 197 2.4e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120506
AA Change: S63P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112718
Gene: ENSMUSG00000029352
AA Change: S63P

DomainStartEndE-ValueType
XTALbg 25 107 7.5e-40 SMART
XTALbg 115 197 2.4e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000131708
AA Change: S63P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115758
Gene: ENSMUSG00000029352
AA Change: S63P

DomainStartEndE-ValueType
XTALbg 25 79 8.84e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000140352
AA Change: S63P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000121929
Gene: ENSMUSG00000029352
AA Change: S63P

DomainStartEndE-ValueType
XTALbg 25 119 7.78e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000136352
AA Change: S63P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121559
Gene: ENSMUSG00000029352
AA Change: S63P

DomainStartEndE-ValueType
Pfam:Crystall 25 65 2.9e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134039
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,184,714 (GRCm39) F931I probably benign Het
Alox15 T A 11: 70,240,744 (GRCm39) H212L probably benign Het
Arhgap42 A T 9: 9,035,538 (GRCm39) V268D probably benign Het
Armc9 A G 1: 86,084,677 (GRCm39) M1V probably null Het
Brca1 C T 11: 101,380,666 (GRCm39) C1789Y probably benign Het
Cacng4 A G 11: 107,627,585 (GRCm39) V138A probably benign Het
Camsap1 A G 2: 25,829,627 (GRCm39) F699S probably damaging Het
Ccm2 A G 11: 6,535,118 (GRCm39) R67G probably damaging Het
Cdk16 G A X: 20,562,898 (GRCm39) probably null Het
Cep85 T C 4: 133,875,324 (GRCm39) H546R probably benign Het
Cfap54 T C 10: 92,768,502 (GRCm39) D207G probably damaging Het
Cldn9 G T 17: 23,902,050 (GRCm39) R192S probably benign Het
Cux1 A G 5: 136,341,523 (GRCm39) L615P probably damaging Het
Dctn3 A G 4: 41,715,407 (GRCm39) Y154H probably damaging Het
Depdc5 CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT 5: 33,067,751 (GRCm39) probably benign Het
Dnah3 A T 7: 119,645,009 (GRCm39) probably null Het
Eif1ad2 A G 12: 87,786,488 (GRCm39) D133G unknown Het
Eml6 G A 11: 29,783,187 (GRCm39) H565Y probably damaging Het
Ephb6 T C 6: 41,594,300 (GRCm39) V610A probably benign Het
Fam234a T C 17: 26,434,282 (GRCm39) Y333C probably damaging Het
Fbln1 G A 15: 85,111,307 (GRCm39) V154I probably benign Het
Frem2 A T 3: 53,561,373 (GRCm39) W1045R probably benign Het
Fubp1 A G 3: 151,933,838 (GRCm39) probably benign Het
Gja3 T A 14: 57,274,333 (GRCm39) N13I probably damaging Het
Gpr20 C A 15: 73,567,751 (GRCm39) V213L probably benign Het
Grk5 T C 19: 61,065,221 (GRCm39) I295T probably damaging Het
Gucy1b1 A G 3: 81,945,349 (GRCm39) F430L probably damaging Het
Gzmk T A 13: 113,310,462 (GRCm39) I119L probably benign Het
Hadh T C 3: 131,038,898 (GRCm39) I153V probably benign Het
Hsfy2 T C 1: 56,676,012 (GRCm39) Y175C probably damaging Het
Hspa5 T C 2: 34,665,836 (GRCm39) I560T probably benign Het
Igdcc4 T C 9: 65,038,945 (GRCm39) V863A probably damaging Het
Il22ra2 A G 10: 19,508,620 (GRCm39) D216G probably benign Het
Klc2 G A 19: 5,161,682 (GRCm39) P303S probably damaging Het
Lama5 C T 2: 179,835,859 (GRCm39) V1192I probably benign Het
Mon2 A G 10: 122,862,029 (GRCm39) S772P probably damaging Het
Mphosph8 T A 14: 56,909,935 (GRCm39) L96Q probably damaging Het
Mzf1 C A 7: 12,786,698 (GRCm39) R124L possibly damaging Het
Nckap1 A G 2: 80,350,929 (GRCm39) I726T probably damaging Het
Ndnf A T 6: 65,680,407 (GRCm39) T229S probably benign Het
Npas3 A T 12: 54,095,658 (GRCm39) probably null Het
Nrap C T 19: 56,343,961 (GRCm39) E729K probably damaging Het
Nsun2 T A 13: 69,775,716 (GRCm39) F387I probably damaging Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Pabpc1l C T 2: 163,886,226 (GRCm39) T452M probably benign Het
Pcdh10 T C 3: 45,334,450 (GRCm39) Y255H probably damaging Het
Pdcd6ip A T 9: 113,529,087 (GRCm39) Y72N probably damaging Het
Pglyrp1 A T 7: 18,618,629 (GRCm39) probably benign Het
Pkp2 T C 16: 16,086,573 (GRCm39) probably null Het
Ppard A G 17: 28,516,154 (GRCm39) Y126C probably damaging Het
Prkcq T C 2: 11,295,344 (GRCm39) Y598H probably damaging Het
Rhobtb1 A G 10: 69,106,109 (GRCm39) T287A probably damaging Het
Sema4b T C 7: 79,869,010 (GRCm39) Y361H probably damaging Het
Slfn9 A T 11: 82,872,983 (GRCm39) I640N probably damaging Het
Smurf2 C A 11: 106,726,896 (GRCm39) probably null Het
Spag5 T C 11: 78,195,755 (GRCm39) V354A probably benign Het
Sptb T C 12: 76,650,473 (GRCm39) D1748G possibly damaging Het
St6galnac5 C A 3: 152,686,887 (GRCm39) L22F probably benign Het
Sugp2 T C 8: 70,695,284 (GRCm39) S86P probably damaging Het
Tnk1 T C 11: 69,747,299 (GRCm39) I111V possibly damaging Het
Tnni3k T A 3: 154,645,263 (GRCm39) I541F possibly damaging Het
Trim36 G T 18: 46,321,724 (GRCm39) H108N possibly damaging Het
Ttn T C 2: 76,701,251 (GRCm39) probably benign Het
Usp28 T A 9: 48,935,317 (GRCm39) S89R probably benign Het
Vmn2r121 T C X: 123,042,488 (GRCm39) D223G probably benign Het
Vmn2r65 T A 7: 84,590,026 (GRCm39) Y630F probably benign Het
Washc2 T A 6: 116,233,673 (GRCm39) S900T probably benign Het
Wdr72 A G 9: 74,117,481 (GRCm39) N731S probably benign Het
Xrra1 T A 7: 99,525,451 (GRCm39) F123L probably damaging Het
Zfp648 A G 1: 154,079,988 (GRCm39) D49G probably benign Het
Other mutations in Crybb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01397:Crybb3 APN 5 113,227,701 (GRCm39) missense probably damaging 0.99
R0125:Crybb3 UTSW 5 113,227,675 (GRCm39) missense possibly damaging 0.70
R0279:Crybb3 UTSW 5 113,227,619 (GRCm39) splice site probably null
R0360:Crybb3 UTSW 5 113,223,819 (GRCm39) missense probably damaging 0.99
R0364:Crybb3 UTSW 5 113,223,819 (GRCm39) missense probably damaging 0.99
R1083:Crybb3 UTSW 5 113,228,444 (GRCm39) utr 5 prime probably benign
R4031:Crybb3 UTSW 5 113,227,735 (GRCm39) missense probably damaging 1.00
R7719:Crybb3 UTSW 5 113,223,834 (GRCm39) missense probably damaging 1.00
R8155:Crybb3 UTSW 5 113,225,466 (GRCm39) missense probably damaging 1.00
R8334:Crybb3 UTSW 5 113,223,845 (GRCm39) missense possibly damaging 0.48
R8753:Crybb3 UTSW 5 113,226,247 (GRCm39) critical splice donor site probably null
R9114:Crybb3 UTSW 5 113,225,407 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGGTGCTAACTCTGAGCTGGACAC -3'
(R):5'- TGAGGCTGCCCTGCTGATTTTC -3'

Sequencing Primer
(F):5'- cgccaCAGGAACTTATGGAT -3'
(R):5'- AGTTGCTCACTGAGGTCAC -3'
Posted On 2014-05-14