Incidental Mutation 'IGL01073:Cryab'
ID 51875
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cryab
Ensembl Gene ENSMUSG00000032060
Gene Name crystallin, alpha B
Synonyms Crya2, HspB5, Crya-2, alpha B-crystallin
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.442) question?
Stock # IGL01073
Quality Score
Status
Chromosome 9
Chromosomal Location 50662625-50667936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50665855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 82 (K82R)
Ref Sequence ENSEMBL: ENSMUSP00000149803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034562] [ENSMUST00000042790] [ENSMUST00000214609] [ENSMUST00000214962] [ENSMUST00000216755] [ENSMUST00000217159] [ENSMUST00000217475]
AlphaFold P23927
Predicted Effect probably damaging
Transcript: ENSMUST00000034562
AA Change: K82R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034562
Gene: ENSMUSG00000032060
AA Change: K82R

DomainStartEndE-ValueType
Pfam:Crystallin 1 56 7.3e-32 PFAM
Pfam:HSP20 67 162 2.1e-27 PFAM
low complexity region 166 175 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000042790
SMART Domains Protein: ENSMUSP00000042374
Gene: ENSMUSG00000038086

DomainStartEndE-ValueType
Pfam:Crystallin 14 55 1.6e-8 PFAM
Pfam:HSP20 66 163 5.7e-19 PFAM
low complexity region 166 182 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000214609
AA Change: K82R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000214962
AA Change: K82R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216393
Predicted Effect probably damaging
Transcript: ENSMUST00000216755
AA Change: K82R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000217159
Predicted Effect probably damaging
Transcript: ENSMUST00000217475
AA Change: K82R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the small heat-shock protein (HSP20) family. The encoded protein is a molecular chaperone that protects proteins against thermal denaturation and other stresses. This protein is a component of the eye lens, regulates lens differentiation and functions as a refractive element in the lens. This protein is a negative regulator of inflammation, has anti-apoptotic properties and also plays a role in the formation of muscular tissue. Mice lacking this gene exhibit worse experimental autoimmune encephalomyelitis and inflammation of the central nervous system compared to the wild type. In mouse models, this gene has a critical role in alleviating the pathology of the neurodegenerative Alexander disease. Mutations in the human gene are associated with myofibrillar myopathy 2, fatal infantile hypertonic myofibrillar myopathy, multiple types of cataract and dilated cardiomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous or heterozygous for a knock-in allele exhibit decreased grip strength and develop cataracts and myopathy; some mice display unilateral corneal abnormalities and small eyes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd24 A G 10: 81,475,156 (GRCm39) D110G possibly damaging Het
Ccnd3 A G 17: 47,905,770 (GRCm39) T104A probably benign Het
Cntnap5b A T 1: 100,003,755 (GRCm39) D245V probably benign Het
Dnmt3b G A 2: 153,512,762 (GRCm39) probably benign Het
Eif2b5 A T 16: 20,319,046 (GRCm39) K99* probably null Het
Fam222b A G 11: 78,045,314 (GRCm39) I292V probably damaging Het
Itpr1 A C 6: 108,390,781 (GRCm39) N1560T probably benign Het
Lca5 T A 9: 83,277,528 (GRCm39) K605N probably damaging Het
Letm1 T C 5: 33,906,144 (GRCm39) D424G possibly damaging Het
Mtif3 C A 5: 146,895,790 (GRCm39) R99L probably damaging Het
Nrxn3 A G 12: 89,221,510 (GRCm39) M430V probably benign Het
Or4c121 A T 2: 89,023,481 (GRCm39) L299Q possibly damaging Het
Pgap2 T A 7: 101,875,661 (GRCm39) probably benign Het
Phf11c A T 14: 59,626,797 (GRCm39) S129T probably benign Het
Ptpro A G 6: 137,354,086 (GRCm39) N154S probably damaging Het
Rfng C T 11: 120,674,747 (GRCm39) R81H probably benign Het
Rnf38 A G 4: 44,137,645 (GRCm39) M280T probably benign Het
Rrp7a G A 15: 83,002,282 (GRCm39) A185V probably benign Het
Slc22a2 C A 17: 12,803,236 (GRCm39) F23L probably benign Het
Slc35f1 A G 10: 52,898,056 (GRCm39) T156A probably benign Het
Slfn1 A T 11: 83,012,163 (GRCm39) Y93F probably benign Het
Snrnp200 A T 2: 127,056,832 (GRCm39) probably benign Het
Sos1 A G 17: 80,730,176 (GRCm39) F701S probably damaging Het
Tmem203 A C 2: 25,145,736 (GRCm39) I19L probably benign Het
Usp8 A T 2: 126,560,034 (GRCm39) K18N probably damaging Het
Vmn2r115 G A 17: 23,564,971 (GRCm39) R286K probably benign Het
Vmn2r23 A C 6: 123,689,759 (GRCm39) T212P possibly damaging Het
Other mutations in Cryab
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3029:Cryab UTSW 9 50,667,638 (GRCm39) missense probably damaging 0.98
R4999:Cryab UTSW 9 50,665,909 (GRCm39) missense possibly damaging 0.92
R5355:Cryab UTSW 9 50,664,751 (GRCm39) missense probably damaging 1.00
R5427:Cryab UTSW 9 50,667,593 (GRCm39) missense probably damaging 1.00
R6192:Cryab UTSW 9 50,665,813 (GRCm39) missense probably damaging 0.97
R6272:Cryab UTSW 9 50,665,825 (GRCm39) missense possibly damaging 0.80
R6993:Cryab UTSW 9 50,664,748 (GRCm39) missense probably benign 0.02
Posted On 2013-06-21