Incidental Mutation 'IGL02210:Crybb2'
ID 284682
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 # IGL02210
Quality Score
Status
Chromosome 5
Chromosomal Location 113206124-113217983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113206253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 194 (Q194L)
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: Q194L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031295
Gene: ENSMUSG00000042240
AA Change: Q194L

DomainStartEndE-ValueType
XTALbg 18 100 2.56e-39 SMART
XTALbg 108 190 7.08e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112336
AA Change: Q194L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107955
Gene: ENSMUSG00000042240
AA Change: Q194L

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,633,097 (GRCm39) F215S probably damaging Het
Acvr2a A T 2: 48,788,538 (GRCm39) H422L probably damaging Het
Adcy6 T C 15: 98,492,852 (GRCm39) Y908C possibly damaging Het
Alyref A C 11: 120,488,499 (GRCm39) S110A possibly damaging Het
Ankrd1 T C 19: 36,095,714 (GRCm39) D86G probably damaging Het
Anpep T A 7: 79,476,652 (GRCm39) Y29F probably benign Het
Appl1 T C 14: 26,647,909 (GRCm39) probably benign Het
Arrdc5 T C 17: 56,607,026 (GRCm39) D73G probably damaging Het
Atp12a T A 14: 56,609,201 (GRCm39) Y142* probably null Het
Clec4a3 T A 6: 122,931,067 (GRCm39) I52N probably damaging Het
Cmya5 G A 13: 93,229,242 (GRCm39) P1949S probably benign Het
Dmxl2 A C 9: 54,311,333 (GRCm39) L1796R probably damaging Het
Ecm1 A G 3: 95,643,289 (GRCm39) F337S probably damaging Het
F5 T C 1: 164,017,710 (GRCm39) S596P probably benign Het
Fat4 A G 3: 38,946,002 (GRCm39) T1632A probably benign Het
Gm5070 T G 3: 95,317,936 (GRCm39) noncoding transcript Het
Hps5 T C 7: 46,435,994 (GRCm39) Y184C probably benign Het
Letmd1 T C 15: 100,367,128 (GRCm39) probably null Het
Lipo5 A T 19: 33,445,277 (GRCm39) N97K unknown Het
Mis18bp1 A T 12: 65,183,605 (GRCm39) Y922* probably null Het
Mob3c C A 4: 115,690,952 (GRCm39) H181N probably damaging Het
Muc4 A T 16: 32,574,054 (GRCm39) T711S probably benign Het
Nav3 T C 10: 109,602,851 (GRCm39) T1233A probably benign Het
Nherf4 T G 9: 44,159,614 (GRCm39) T461P probably benign Het
Or12e8 T A 2: 87,188,347 (GRCm39) D186E probably damaging Het
Or12k8 G T 2: 36,975,631 (GRCm39) T43N possibly damaging Het
Pcnt T C 10: 76,225,053 (GRCm39) E1817G possibly damaging Het
Pgap4 A G 4: 49,586,686 (GRCm39) Y161H probably benign Het
Phc3 A G 3: 30,990,858 (GRCm39) V420A probably damaging Het
Plekhn1 A T 4: 156,308,106 (GRCm39) C316S probably damaging Het
Ppp1cb T A 5: 32,640,818 (GRCm39) probably benign Het
Slc29a4 T C 5: 142,704,534 (GRCm39) Y359H probably damaging Het
Sspo T C 6: 48,477,426 (GRCm39) I4982T probably damaging Het
Sstr4 T A 2: 148,238,229 (GRCm39) L280Q probably damaging Het
Stap1 G A 5: 86,225,920 (GRCm39) probably null Het
Szt2 A G 4: 118,247,020 (GRCm39) V865A possibly damaging Het
Tnr T A 1: 159,679,671 (GRCm39) V215D probably benign Het
Trpm1 T C 7: 63,860,613 (GRCm39) L288P probably damaging Het
Ttll5 T A 12: 85,959,319 (GRCm39) probably benign Het
Usp8 T C 2: 126,559,976 (GRCm39) probably benign Het
Uxs1 T C 1: 43,789,446 (GRCm39) Y403C possibly damaging Het
Wnk2 T C 13: 49,244,345 (GRCm39) E497G probably damaging Het
Xdh T C 17: 74,250,890 (GRCm39) K21E probably benign Het
Other mutations in Crybb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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