Incidental Mutation 'IGL02405:Crybb2'
ID 292035
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crybb2
Ensembl Gene ENSMUSG00000042240
Gene Name crystallin, beta B2
Synonyms Aey2, betaB2-crystallin, Cryb-2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.345) question?
Stock # IGL02405
Quality Score
Status
Chromosome 5
Chromosomal Location 113206124-113217983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113206374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 154 (Y154H)
Ref Sequence ENSEMBL: ENSMUSP00000107955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031295] [ENSMUST00000112336]
AlphaFold P62696
Predicted Effect probably damaging
Transcript: ENSMUST00000031295
AA Change: Y154H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031295
Gene: ENSMUSG00000042240
AA Change: Y154H

DomainStartEndE-ValueType
XTALbg 18 100 2.56e-39 SMART
XTALbg 108 190 7.08e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112336
AA Change: Y154H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107955
Gene: ENSMUSG00000042240
AA Change: Y154H

DomainStartEndE-ValueType
XTALbg 18 100 2.56e-39 SMART
XTALbg 108 190 7.08e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199639
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,498,036 (GRCm39) S1434P possibly damaging Het
Abcc12 G T 8: 87,284,782 (GRCm39) Q278K probably damaging Het
Adk A G 14: 21,153,899 (GRCm39) K48R probably benign Het
Atp8b3 C T 10: 80,366,462 (GRCm39) G267D probably damaging Het
Bpifa6 T A 2: 153,832,782 (GRCm39) L299* probably null Het
Cblb G A 16: 51,986,616 (GRCm39) A620T probably benign Het
Cep128 C T 12: 91,233,760 (GRCm39) R436H probably benign Het
Chd4 A G 6: 125,074,190 (GRCm39) D21G probably benign Het
Cnksr1 T C 4: 133,963,592 (GRCm39) D30G possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dhx57 A T 17: 80,562,979 (GRCm39) probably null Het
Eri2 T C 7: 119,384,705 (GRCm39) R599G probably damaging Het
Fcrl1 A C 3: 87,293,074 (GRCm39) K244Q probably damaging Het
Gm11992 A G 11: 9,009,939 (GRCm39) N179S probably benign Het
Hgfac A G 5: 35,201,824 (GRCm39) D319G probably benign Het
Irf5 G A 6: 29,535,760 (GRCm39) R258H probably damaging Het
Mecr G A 4: 131,590,303 (GRCm39) probably null Het
Obscn T G 11: 59,023,428 (GRCm39) K650Q probably damaging Het
Or5b98 A G 19: 12,931,823 (GRCm39) Y290C probably damaging Het
Pde4d T C 13: 108,996,743 (GRCm39) probably null Het
Saxo4 G A 19: 10,451,930 (GRCm39) T406I probably damaging Het
Serpinh1 A G 7: 98,996,541 (GRCm39) M217T possibly damaging Het
Setbp1 A T 18: 78,900,514 (GRCm39) M1051K probably damaging Het
Slc43a3 A G 2: 84,768,585 (GRCm39) E68G probably damaging Het
Supt5 T C 7: 28,015,249 (GRCm39) N969D probably benign Het
Taf2 A T 15: 54,897,551 (GRCm39) probably benign Het
Tlr2 A G 3: 83,743,981 (GRCm39) F701L probably damaging Het
Trim46 T C 3: 89,149,792 (GRCm39) T222A probably benign Het
Tshz3 A T 7: 36,469,075 (GRCm39) N355Y possibly damaging Het
Vmn2r3 A G 3: 64,178,620 (GRCm39) probably benign Het
Xkr9 A T 1: 13,742,997 (GRCm39) probably benign Het
Zfhx3 C T 8: 109,682,374 (GRCm39) A3271V unknown Het
Other mutations in Crybb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02210:Crybb2 APN 5 113,206,253 (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
R5873:Crybb2 UTSW 5 113,213,759 (GRCm39) critical splice donor site probably null
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
Posted On 2015-04-16