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 betaB2-crystallin, Aey2, Cryb-2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.317) question?
Stock # IGL02210
Quality Score
Status
Chromosome 5
Chromosomal Location 113058258-113070117 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113058387 bp (GRCm38)
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: 142,687,371 F215S probably damaging Het
Acvr2a A T 2: 48,898,526 H422L probably damaging Het
Adcy6 T C 15: 98,594,971 Y908C possibly damaging Het
Alyref A C 11: 120,597,673 S110A possibly damaging Het
Ankrd1 T C 19: 36,118,314 D86G probably damaging Het
Anpep T A 7: 79,826,904 Y29F probably benign Het
Appl1 T C 14: 26,925,952 probably benign Het
Arrdc5 T C 17: 56,300,026 D73G probably damaging Het
Atp12a T A 14: 56,371,744 Y142* probably null Het
Clec4a3 T A 6: 122,954,108 I52N probably damaging Het
Cmya5 G A 13: 93,092,734 P1949S probably benign Het
Dmxl2 A C 9: 54,404,049 L1796R probably damaging Het
Ecm1 A G 3: 95,735,977 F337S probably damaging Het
F5 T C 1: 164,190,141 S596P probably benign Het
Fat4 A G 3: 38,891,853 T1632A probably benign Het
Gm5070 T G 3: 95,410,625 noncoding transcript Het
Hps5 T C 7: 46,786,570 Y184C probably benign Het
Letmd1 T C 15: 100,469,247 probably null Het
Lipo5 A T 19: 33,467,877 N97K unknown Het
Mis18bp1 A T 12: 65,136,831 Y922* probably null Het
Mob3c C A 4: 115,833,755 H181N probably damaging Het
Muc4 A T 16: 32,752,254 T711S probably benign Het
Nav3 T C 10: 109,766,990 T1233A probably benign Het
Olfr1120 T A 2: 87,358,003 D186E probably damaging Het
Olfr361 G T 2: 37,085,619 T43N possibly damaging Het
Pcnt T C 10: 76,389,219 E1817G possibly damaging Het
Pdzd3 T G 9: 44,248,317 T461P probably benign Het
Phc3 A G 3: 30,936,709 V420A probably damaging Het
Plekhn1 A T 4: 156,223,649 C316S probably damaging Het
Ppp1cb T A 5: 32,483,474 probably benign Het
Slc29a4 T C 5: 142,718,779 Y359H probably damaging Het
Sspo T C 6: 48,500,492 I4982T probably damaging Het
Sstr4 T A 2: 148,396,309 L280Q probably damaging Het
Stap1 G A 5: 86,078,061 probably null Het
Szt2 A G 4: 118,389,823 V865A possibly damaging Het
Tmem246 A G 4: 49,586,686 Y161H probably benign Het
Tnr T A 1: 159,852,101 V215D probably benign Het
Trpm1 T C 7: 64,210,865 L288P probably damaging Het
Ttll5 T A 12: 85,912,545 probably benign Het
Usp8 T C 2: 126,718,056 probably benign Het
Uxs1 T C 1: 43,750,286 Y403C possibly damaging Het
Wnk2 T C 13: 49,090,869 E497G probably damaging Het
Xdh T C 17: 73,943,895 K21E probably benign Het
Other mutations in Crybb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02405:Crybb2 APN 5 113058508 missense probably damaging 1.00
R0799:Crybb2 UTSW 5 113062171 missense probably benign 0.02
R4853:Crybb2 UTSW 5 113063188 missense probably damaging 0.99
R5873:Crybb2 UTSW 5 113065893 critical splice donor site probably null
R7567:Crybb2 UTSW 5 113065893 critical splice donor site probably null
R7983:Crybb2 UTSW 5 113062080 missense probably benign 0.33
R8891:Crybb2 UTSW 5 113062047 missense possibly damaging 0.64
R9248:Crybb2 UTSW 5 113063228 missense probably benign
Z1177:Crybb2 UTSW 5 113058435 missense probably damaging 0.99
Z1177:Crybb2 UTSW 5 113058436 missense probably damaging 1.00
Posted On 2015-04-16