Incidental Mutation 'R5427:Cryab'
ID 475519
Institutional Source Beutler Lab
Gene Symbol Cryab
Ensembl Gene ENSMUSG00000032060
Gene Name crystallin, alpha B
Synonyms Crya2, HspB5, Crya-2, alpha B-crystallin
MMRRC Submission 042993-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.442) question?
Stock # R5427 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 50662625-50667936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50667593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 109 (D109G)
Ref Sequence ENSEMBL: ENSMUSP00000149454 (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: D109G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034562
Gene: ENSMUSG00000032060
AA Change: D109G

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: D109G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214962
AA Change: D109G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216393
Predicted Effect probably damaging
Transcript: ENSMUST00000216755
AA Change: D109G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000217159
Predicted Effect probably damaging
Transcript: ENSMUST00000217475
AA Change: D109G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.9295 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (58/60)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,248,385 (GRCm39) V277A possibly damaging Het
Adcy7 G A 8: 89,052,829 (GRCm39) probably null Het
Adgrg5 A T 8: 95,661,730 (GRCm39) D157V probably benign Het
Akap13 A G 7: 75,378,617 (GRCm39) N2090S possibly damaging Het
Alpi T C 1: 87,029,076 (GRCm39) N33D probably benign Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ankrd34a G A 3: 96,504,837 (GRCm39) G14R probably damaging Het
Anp32a A G 9: 62,284,598 (GRCm39) probably benign Het
Atg4b G C 1: 93,702,928 (GRCm39) K86N probably damaging Het
Bbx T C 16: 50,100,860 (GRCm39) T12A probably benign Het
Catsperg2 T C 7: 29,414,275 (GRCm39) T377A possibly damaging Het
Ccdc158 T C 5: 92,796,821 (GRCm39) Q505R probably damaging Het
Cep135 T A 5: 76,786,049 (GRCm39) S1051T probably benign Het
Crym A C 7: 119,798,445 (GRCm39) probably benign Het
Csf2rb2 T A 15: 78,173,111 (GRCm39) S250C probably damaging Het
Diaph1 A T 18: 38,023,648 (GRCm39) V730E unknown Het
Eci3 G T 13: 35,143,931 (GRCm39) L65M possibly damaging Het
Erg28 T C 12: 85,866,341 (GRCm39) N46D probably damaging Het
Fam89b A G 19: 5,778,819 (GRCm39) S127P probably benign Het
Fign A G 2: 63,809,342 (GRCm39) Y643H probably damaging Het
Galk2 T C 2: 125,788,741 (GRCm39) V265A probably benign Het
Gclm T C 3: 122,059,976 (GRCm39) V252A probably damaging Het
Git2 A G 5: 114,868,389 (GRCm39) S584P possibly damaging Het
Iqcf3 T C 9: 106,421,059 (GRCm39) probably null Het
Kcnk3 A G 5: 30,779,639 (GRCm39) T230A possibly damaging Het
Mettl25b T C 3: 87,831,639 (GRCm39) probably benign Het
Myh10 T C 11: 68,693,757 (GRCm39) L1486P probably damaging Het
Myom2 C A 8: 15,163,764 (GRCm39) A1006E probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nampt A T 12: 32,884,914 (GRCm39) H111L probably benign Het
Nid1 A G 13: 13,658,268 (GRCm39) Y671C probably damaging Het
Npy5r G A 8: 67,133,672 (GRCm39) R374C probably damaging Het
Or10ag54 A T 2: 87,099,858 (GRCm39) K244N probably benign Het
Or5b123 A T 19: 13,596,714 (GRCm39) S20C probably benign Het
Palld C T 8: 62,003,106 (GRCm39) C720Y probably benign Het
Pcsk6 C T 7: 65,683,647 (GRCm39) T606M probably benign Het
Pfas T C 11: 68,891,979 (GRCm39) I176M possibly damaging Het
Pi4kb A G 3: 94,901,518 (GRCm39) D395G probably benign Het
Plod3 A T 5: 137,020,642 (GRCm39) Y547F probably damaging Het
Plscr1l1 G A 9: 92,234,649 (GRCm39) C128Y probably benign Het
Pnpo T C 11: 96,834,633 (GRCm39) Y21C probably benign Het
Rgs1 A T 1: 144,122,018 (GRCm39) C118* probably null Het
Slc22a27 A G 19: 7,856,753 (GRCm39) probably null Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Sppl2c G A 11: 104,078,693 (GRCm39) V498I probably benign Het
Stim2 A T 5: 54,268,281 (GRCm39) I448F possibly damaging Het
Sulf1 A T 1: 12,867,136 (GRCm39) T107S possibly damaging Het
Tenm3 A G 8: 48,689,599 (GRCm39) V1996A probably damaging Het
Timm23 G A 14: 31,911,103 (GRCm39) T171I possibly damaging Het
Tssk2 A G 16: 17,716,729 (GRCm39) D44G probably damaging Het
Vmn2r28 A T 7: 5,489,376 (GRCm39) Y488N probably damaging Het
Zbed6 A G 1: 133,585,333 (GRCm39) V668A possibly damaging Het
Zbtb48 A G 4: 152,105,108 (GRCm39) F518S probably damaging Het
Zfp709 A G 8: 72,642,976 (GRCm39) E135G probably benign Het
Zfp788 G A 7: 41,299,076 (GRCm39) V571I possibly damaging Het
Zfp963 A G 8: 70,196,106 (GRCm39) S116P probably benign Het
Other mutations in Cryab
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01073:Cryab APN 9 50,665,855 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CTTAAACCTGGACAAACAGCTCTAG -3'
(R):5'- GCTTCTCTTCACGGGTGATG -3'

Sequencing Primer
(F):5'- TGGACAAACAGCTCTAGACTTAG -3'
(R):5'- ATGGGAATGGTGCGCTCAG -3'
Posted On 2017-05-11