Incidental Mutation 'R5873:Crybb2'
ID 455300
Institutional Source Beutler Lab
Gene Symbol Crybb2
Ensembl Gene ENSMUSG00000042240
Gene Name crystallin, beta B2
Synonyms Aey2, betaB2-crystallin, Cryb-2
MMRRC Submission 044080-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.345) question?
Stock # R5873 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 113206124-113217983 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 113213759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031295] [ENSMUST00000112336]
AlphaFold P62696
Predicted Effect probably null
Transcript: ENSMUST00000031295
SMART Domains Protein: ENSMUSP00000031295
Gene: ENSMUSG00000042240

DomainStartEndE-ValueType
XTALbg 18 100 2.56e-39 SMART
XTALbg 108 190 7.08e-42 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112336
SMART Domains Protein: ENSMUSP00000107955
Gene: ENSMUSG00000042240

DomainStartEndE-ValueType
XTALbg 18 100 2.56e-39 SMART
XTALbg 108 190 7.08e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137485
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199639
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the beta-crystallin family. Beta crystallins, along with alpha and gamma crystallins, are the major proteins found in the eye lens. These proteins maintain the refractive index of the lens whilst also maintaining its transparency. Since lens central fiber cells lose their nuclei during development, crystallins are made and then retained throughout life, making them extremely stable proteins. Beta and gamma crystallins are considered be a superfamily and have a similar domain architecture, including four Greek Key motifs. Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. The protein encoded by this gene may have Ca2+-binding activity and could be associated with potential functions in the hippocampus and in sperm. Targeted knockout of this gene in mouse induces age-related cataract. A chain-terminating mutation in a similar gene in human was found to cause type 2 cerulean cataracts. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mutations in this gene cause progressive lens cataracts discernable at 12-15 days of age as mild anterior or cortical opacity and progressing to total opacity by 6-12 weeks of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,630,167 (GRCm39) probably null Het
4930505A04Rik T A 11: 30,376,220 (GRCm39) K216* probably null Het
5330417H12Rik T C 7: 107,223,975 (GRCm39) probably benign Het
Abcc4 G T 14: 118,763,702 (GRCm39) D1044E probably benign Het
Adgre4 A G 17: 56,159,282 (GRCm39) T656A probably benign Het
Ankk1 T C 9: 49,327,196 (GRCm39) N661S probably benign Het
Asah2 A G 19: 31,981,082 (GRCm39) probably null Het
Asxl3 A G 18: 22,649,142 (GRCm39) D377G probably benign Het
C3ar1 A G 6: 122,827,381 (GRCm39) S279P probably benign Het
C7 A G 15: 5,034,717 (GRCm39) V610A probably damaging Het
Cacna2d3 C A 14: 29,442,891 (GRCm39) A48S probably benign Het
Card11 T A 5: 140,894,393 (GRCm39) I79F probably damaging Het
Casc3 A G 11: 98,712,270 (GRCm39) Y103C unknown Het
Cass4 G T 2: 172,268,688 (GRCm39) V259L probably benign Het
Col14a1 A G 15: 55,309,182 (GRCm39) probably benign Het
Cox10 A G 11: 63,962,512 (GRCm39) S110P probably benign Het
Cpt1b T C 15: 89,304,931 (GRCm39) Y439C probably damaging Het
Cyp2b23 C T 7: 26,374,431 (GRCm39) R271H probably benign Het
Dnah17 T C 11: 117,947,723 (GRCm39) I3039V probably benign Het
Dnpep T C 1: 75,291,787 (GRCm39) D242G probably damaging Het
Dock10 T A 1: 80,551,855 (GRCm39) N660I probably damaging Het
Esco2 T C 14: 66,061,640 (GRCm39) D471G probably benign Het
Evpl A T 11: 116,125,258 (GRCm39) L97H probably damaging Het
Exoc3l4 A T 12: 111,389,850 (GRCm39) I142F probably damaging Het
Fry C A 5: 150,302,350 (GRCm39) P519Q probably damaging Het
Gal3st2 T A 1: 93,801,472 (GRCm39) F92I probably benign Het
Galm A G 17: 80,445,532 (GRCm39) E94G probably benign Het
Gfy T G 7: 44,827,004 (GRCm39) H364P probably damaging Het
Helz2 A G 2: 180,875,821 (GRCm39) S1558P possibly damaging Het
Hmmr T A 11: 40,598,527 (GRCm39) Q600L probably damaging Het
Hnrnph3 A G 10: 62,855,170 (GRCm39) probably null Het
Igkv4-90 T A 6: 68,784,453 (GRCm39) N21I probably benign Het
Kpna1 A G 16: 35,834,598 (GRCm39) probably benign Het
Krt28 A C 11: 99,257,716 (GRCm39) L375R probably damaging Het
Lrrn1 T C 6: 107,545,936 (GRCm39) V578A probably damaging Het
Lta4h T C 10: 93,305,052 (GRCm39) probably null Het
Matk T A 10: 81,095,963 (GRCm39) V166E probably benign Het
Muc4 C A 16: 32,570,113 (GRCm39) T391K possibly damaging Het
Mybl1 T A 1: 9,755,890 (GRCm39) T220S possibly damaging Het
Nrp1 T C 8: 129,194,858 (GRCm39) V438A probably damaging Het
Or2y6 A T 11: 52,104,180 (GRCm39) L212Q probably damaging Het
Or6p1 T A 1: 174,258,348 (GRCm39) M118K possibly damaging Het
Pdia4 A T 6: 47,785,110 (GRCm39) W86R probably damaging Het
Pdzd7 T A 19: 45,016,388 (GRCm39) D911V probably damaging Het
Pkd1 A G 17: 24,788,804 (GRCm39) Q854R probably benign Het
Ppl A G 16: 4,923,913 (GRCm39) probably null Het
Ppp1r26 A G 2: 28,341,617 (GRCm39) T416A probably benign Het
Prdm15 T C 16: 97,609,889 (GRCm39) D585G probably damaging Het
Rbak A G 5: 143,159,466 (GRCm39) V529A probably benign Het
Rc3h1 C T 1: 160,787,071 (GRCm39) T822I probably damaging Het
Slc25a18 A T 6: 120,763,242 (GRCm39) probably null Het
Taf2 T C 15: 54,901,818 (GRCm39) N792S probably benign Het
Tat T C 8: 110,718,581 (GRCm39) probably null Het
Tbx21 A T 11: 97,005,474 (GRCm39) probably null Het
Txndc11 A G 16: 10,893,069 (GRCm39) L887P probably damaging Het
Usp10 A G 8: 120,673,831 (GRCm39) T399A possibly damaging Het
Vmn2r26 A T 6: 124,038,633 (GRCm39) H736L probably benign Het
Vstm2a T A 11: 16,208,044 (GRCm39) F13I probably damaging Het
Zkscan5 A G 5: 145,157,204 (GRCm39) R496G possibly damaging Het
Zranb2 C T 3: 157,242,020 (GRCm39) R36* probably null Het
Other mutations in Crybb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02210:Crybb2 APN 5 113,206,253 (GRCm39) missense probably damaging 1.00
IGL02405:Crybb2 APN 5 113,206,374 (GRCm39) missense probably damaging 1.00
R0799:Crybb2 UTSW 5 113,210,037 (GRCm39) missense probably benign 0.02
R4853:Crybb2 UTSW 5 113,211,054 (GRCm39) missense probably damaging 0.99
R7567:Crybb2 UTSW 5 113,213,759 (GRCm39) critical splice donor site probably null
R7983:Crybb2 UTSW 5 113,209,946 (GRCm39) missense probably benign 0.33
R8891:Crybb2 UTSW 5 113,209,913 (GRCm39) missense possibly damaging 0.64
R9248:Crybb2 UTSW 5 113,211,094 (GRCm39) missense probably benign
Z1177:Crybb2 UTSW 5 113,206,302 (GRCm39) missense probably damaging 1.00
Z1177:Crybb2 UTSW 5 113,206,301 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTTGCCTAACTGGGATTTGAACC -3'
(R):5'- ATGCCTGTTCTGACTCACAG -3'

Sequencing Primer
(F):5'- TAACTGGGATTTGAACCCAGCTC -3'
(R):5'- AGAGGCTTGCAGTCCTGAG -3'
Posted On 2017-02-10