Incidental Mutation 'R7990:Cryba1'
ID 651692
Institutional Source Beutler Lab
Gene Symbol Cryba1
Ensembl Gene ENSMUSG00000000724
Gene Name crystallin, beta A1
Synonyms Cryb, BA3/A1
MMRRC Submission 046031-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7990 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 77609441-77616109 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77614411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 21 (T21A)
Ref Sequence ENSEMBL: ENSMUSP00000077693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078623] [ENSMUST00000181023]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000078623
AA Change: T21A

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000077693
Gene: ENSMUSG00000000724
AA Change: T21A

DomainStartEndE-ValueType
XTALbg 32 116 1.27e-43 SMART
XTALbg 125 213 3.49e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000181023
SMART Domains Protein: ENSMUSP00000137922
Gene: ENSMUSG00000037857

DomainStartEndE-ValueType
low complexity region 7 61 N/A INTRINSIC
Pfam:NUFIP2 89 681 7e-293 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a knock-out allele exhibit microphthalmia, congenital nuclear cataracts, persistent hyaloid artery, and lens defects including impaired lysosomal cargo clearance, increased calcium level, and cytoskeletal defects. Homozygotes for an ENU allele show microphthalmia and total cataracts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik G A 3: 89,970,549 (GRCm39) V28I probably damaging Het
Abcd4 G T 12: 84,651,162 (GRCm39) probably null Het
Alg2 T C 4: 47,472,308 (GRCm39) T167A probably damaging Het
Asap1 T C 15: 64,044,586 (GRCm39) probably null Het
Atad5 T A 11: 80,024,079 (GRCm39) C1730* probably null Het
Atp8b1 T C 18: 64,671,748 (GRCm39) T1092A possibly damaging Het
C130050O18Rik A G 5: 139,400,672 (GRCm39) T242A probably benign Het
Ccdc88c A G 12: 100,934,244 (GRCm39) V211A probably damaging Het
Ccnl1 A G 3: 65,854,314 (GRCm39) S436P possibly damaging Het
Cgnl1 T C 9: 71,632,547 (GRCm39) E268G probably damaging Het
Clca4b T G 3: 144,634,103 (GRCm39) D104A probably damaging Het
Col6a3 T G 1: 90,709,577 (GRCm39) K2480T unknown Het
Csn1s1 C T 5: 87,827,912 (GRCm39) A259V possibly damaging Het
Dap3 A C 3: 88,835,814 (GRCm39) Y206* probably null Het
Etnppl T C 3: 130,424,308 (GRCm39) I360T possibly damaging Het
Gal3st3 A T 19: 5,352,617 (GRCm39) M15L probably benign Het
Gdf5 A G 2: 155,783,749 (GRCm39) V401A probably damaging Het
Gm1110 A G 9: 26,792,137 (GRCm39) S628P possibly damaging Het
Gm9493 A T 19: 23,597,397 (GRCm39) I98F possibly damaging Het
Grin2a T C 16: 9,397,040 (GRCm39) K1016E possibly damaging Het
Hdac9 T C 12: 34,265,452 (GRCm39) N850D probably benign Het
Itsn2 C A 12: 4,685,629 (GRCm39) L466I unknown Het
Jkampl T C 6: 73,446,528 (GRCm39) Y7C probably damaging Het
Kcnj16 C A 11: 110,915,886 (GRCm39) R183S probably damaging Het
Kcnk2 A C 1: 188,942,102 (GRCm39) L389R probably damaging Het
Kdm4c A C 4: 74,309,685 (GRCm39) K949N probably damaging Het
Kif3b G A 2: 153,159,383 (GRCm39) E395K probably benign Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Map3k1 A T 13: 111,892,696 (GRCm39) M853K probably benign Het
Metap1 T G 3: 138,186,526 (GRCm39) T68P probably benign Het
Mfsd11 T C 11: 116,750,323 (GRCm39) V114A possibly damaging Het
Mroh1 G A 15: 76,336,475 (GRCm39) R1566H probably damaging Het
Msh4 A T 3: 153,602,529 (GRCm39) M233K probably damaging Het
Ncor1 T G 11: 62,240,321 (GRCm39) probably null Het
Npl A T 1: 153,413,230 (GRCm39) V29D possibly damaging Het
Or1e29 C T 11: 73,667,497 (GRCm39) V219I probably benign Het
Osmr T C 15: 6,881,948 (GRCm39) I65M possibly damaging Het
Rabepk C T 2: 34,670,720 (GRCm39) V247I probably benign Het
Rere C T 4: 150,699,327 (GRCm39) P804S unknown Het
Rpgrip1 A T 14: 52,366,975 (GRCm39) Y265F possibly damaging Het
Slc10a1 T C 12: 81,000,554 (GRCm39) D315G probably benign Het
Smc5 A T 19: 23,213,246 (GRCm39) N555K probably benign Het
Spata17 T A 1: 186,872,592 (GRCm39) H26L unknown Het
Sphkap C T 1: 83,245,066 (GRCm39) D1518N probably damaging Het
Sult2a6 A T 7: 13,959,795 (GRCm39) M246K possibly damaging Het
Tmx2 A G 2: 84,506,480 (GRCm39) F71L probably damaging Het
Ush2a T A 1: 188,274,996 (GRCm39) L1823Q probably benign Het
Virma T A 4: 11,513,983 (GRCm39) D612E probably benign Het
Wdfy4 A T 14: 32,819,752 (GRCm39) L1484Q Het
Zan A G 5: 137,391,352 (GRCm39) S4711P unknown Het
Zdhhc1 A G 8: 106,203,001 (GRCm39) probably null Het
Zfp971 C T 2: 177,675,361 (GRCm39) T320I probably damaging Het
Other mutations in Cryba1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02964:Cryba1 APN 11 77,610,207 (GRCm39) intron probably benign
R0211:Cryba1 UTSW 11 77,609,693 (GRCm39) missense probably damaging 0.99
R0211:Cryba1 UTSW 11 77,609,693 (GRCm39) missense probably damaging 0.99
R0724:Cryba1 UTSW 11 77,610,283 (GRCm39) missense probably damaging 1.00
R2357:Cryba1 UTSW 11 77,613,427 (GRCm39) intron probably benign
R2416:Cryba1 UTSW 11 77,611,726 (GRCm39) missense probably damaging 1.00
R6866:Cryba1 UTSW 11 77,610,355 (GRCm39) missense probably benign 0.05
R7624:Cryba1 UTSW 11 77,613,543 (GRCm39) missense probably damaging 1.00
R7805:Cryba1 UTSW 11 77,613,434 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGACATAGACCTCCAGGAAAGC -3'
(R):5'- CTGAGGTTTTGGTAGTAGCCCC -3'

Sequencing Primer
(F):5'- CAATGTCTAGATGTCAGATTGGCCC -3'
(R):5'- TTTTGGTAGTAGCCCCAGAGCC -3'
Posted On 2020-09-15