Incidental Mutation 'IGL01073:Cryab'
ID51875
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cryab
Ensembl Gene ENSMUSG00000032060
Gene Namecrystallin, alpha B
SynonymsCrya2, alpha B-crystallin, HspB5, Crya-2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.328) question?
Stock #IGL01073
Quality Score
Status
Chromosome9
Chromosomal Location50751325-50756636 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 50754555 bp
ZygosityHeterozygous
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]
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: 81,639,322 D110G possibly damaging Het
Ccnd3 A G 17: 47,594,845 T104A probably benign Het
Cntnap5b A T 1: 100,076,030 D245V probably benign Het
Dnmt3b G A 2: 153,670,842 probably benign Het
Eif2b5 A T 16: 20,500,296 K99* probably null Het
Fam222b A G 11: 78,154,488 I292V probably damaging Het
Itpr1 A C 6: 108,413,820 N1560T probably benign Het
Lca5 T A 9: 83,395,475 K605N probably damaging Het
Letm1 T C 5: 33,748,800 D424G possibly damaging Het
Mtif3 C A 5: 146,958,980 R99L probably damaging Het
Nrxn3 A G 12: 89,254,740 M430V probably benign Het
Olfr1226 A T 2: 89,193,137 L299Q possibly damaging Het
Pgap2 T A 7: 102,226,454 probably benign Het
Phf11c A T 14: 59,389,348 S129T probably benign Het
Ptpro A G 6: 137,377,088 N154S probably damaging Het
Rfng C T 11: 120,783,921 R81H probably benign Het
Rnf38 A G 4: 44,137,645 M280T probably benign Het
Rrp7a G A 15: 83,118,081 A185V probably benign Het
Slc22a2 C A 17: 12,584,349 F23L probably benign Het
Slc35f1 A G 10: 53,021,960 T156A probably benign Het
Slfn1 A T 11: 83,121,337 Y93F probably benign Het
Snrnp200 A T 2: 127,214,912 probably benign Het
Sos1 A G 17: 80,422,747 F701S probably damaging Het
Tmem203 A C 2: 25,255,724 I19L probably benign Het
Usp8 A T 2: 126,718,114 K18N probably damaging Het
Vmn2r115 G A 17: 23,345,997 R286K probably benign Het
Vmn2r23 A C 6: 123,712,800 T212P possibly damaging Het
Other mutations in Cryab
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3029:Cryab UTSW 9 50756338 missense probably damaging 0.98
R4999:Cryab UTSW 9 50754609 missense possibly damaging 0.92
R5355:Cryab UTSW 9 50753451 missense probably damaging 1.00
R5427:Cryab UTSW 9 50756293 missense probably damaging 1.00
R6192:Cryab UTSW 9 50754513 missense probably damaging 0.97
R6272:Cryab UTSW 9 50754525 missense possibly damaging 0.80
R6993:Cryab UTSW 9 50753448 missense probably benign 0.02
Posted On2013-06-21