Incidental Mutation 'R6866:Cryba1'
ID 535936
Institutional Source Beutler Lab
Gene Symbol Cryba1
Ensembl Gene ENSMUSG00000000724
Gene Name crystallin, beta A1
Synonyms Cryb, BA3/A1
MMRRC Submission 044965-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6866 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 77609441-77616109 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77610355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 120 (N120S)
Ref Sequence ENSEMBL: ENSMUSP00000077693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078623] [ENSMUST00000181023]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000078623
AA Change: N120S

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000077693
Gene: ENSMUSG00000000724
AA Change: N120S

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: 99.3%
  • 20x: 97.7%
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A G 6: 85,598,080 (GRCm39) T1438A possibly damaging Het
Als2 T A 1: 59,250,292 (GRCm39) Q484L probably damaging Het
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Bcl2l13 T A 6: 120,839,850 (GRCm39) N49K probably benign Het
Bptf T C 11: 106,964,406 (GRCm39) D1596G probably damaging Het
Brsk1 T C 7: 4,709,406 (GRCm39) M325T probably damaging Het
Caly T C 7: 139,650,532 (GRCm39) M137V probably benign Het
Cdca2 T C 14: 67,931,115 (GRCm39) E526G possibly damaging Het
Cnga4 A G 7: 105,056,952 (GRCm39) S352G possibly damaging Het
Cntnap5c A C 17: 58,399,289 (GRCm39) T381P probably benign Het
Cr2 T A 1: 194,833,999 (GRCm39) Y633F probably damaging Het
Cyfip2 G A 11: 46,133,286 (GRCm39) R805* probably null Het
Dnah7c C A 1: 46,696,403 (GRCm39) P2095Q probably damaging Het
Eif3k T C 7: 28,676,651 (GRCm39) E110G possibly damaging Het
Extl2 T A 3: 115,821,002 (GRCm39) M283K probably damaging Het
Extl2 A G 3: 115,821,001 (GRCm39) M283V probably damaging Het
Focad T C 4: 88,321,623 (GRCm39) I1658T probably benign Het
Fstl5 A T 3: 76,229,532 (GRCm39) H111L probably damaging Het
Garnl3 A G 2: 32,892,785 (GRCm39) probably null Het
Gm3633 T A 14: 42,462,579 (GRCm39) probably benign Het
Il4i1 T A 7: 44,485,963 (GRCm39) probably null Het
Kcnj6 A T 16: 94,563,536 (GRCm39) C321S probably damaging Het
Kif20a A T 18: 34,761,546 (GRCm39) Y313F probably benign Het
Kmt2d T G 15: 98,755,274 (GRCm39) probably benign Het
Kynu T A 2: 43,453,122 (GRCm39) Y48* probably null Het
Ly9 T C 1: 171,432,847 (GRCm39) I55M probably damaging Het
Mgme1 T C 2: 144,118,439 (GRCm39) V237A probably damaging Het
Mmp16 T A 4: 17,853,800 (GRCm39) L27H probably benign Het
Mtres1 ACTGCACCACCT ACT 10: 43,408,721 (GRCm39) probably benign Het
Myh1 A C 11: 67,115,219 (GRCm39) D1918A probably damaging Het
Myo5a G A 9: 75,047,970 (GRCm39) C266Y probably damaging Het
Nckap5l A G 15: 99,324,349 (GRCm39) I718T probably benign Het
Nptx1 A G 11: 119,437,476 (GRCm39) probably null Het
Or56a42-ps1 T A 7: 104,775,825 (GRCm39) M228L probably benign Het
Or5k16 A G 16: 58,736,351 (GRCm39) Y218H probably damaging Het
Or5p76 A G 7: 108,122,377 (GRCm39) F260S probably damaging Het
Phc3 T A 3: 30,968,680 (GRCm39) K783* probably null Het
Pkdrej A T 15: 85,705,082 (GRCm39) C285S probably damaging Het
Pot1b T A 17: 55,960,474 (GRCm39) T619S possibly damaging Het
Pramel32 T A 4: 88,545,977 (GRCm39) D455V probably damaging Het
Psg21 A T 7: 18,386,209 (GRCm39) V259E probably damaging Het
Pvr A C 7: 19,652,555 (GRCm39) I120S probably benign Het
Rbm17 T G 2: 11,602,901 (GRCm39) I68L probably benign Het
Rnf138 C T 18: 21,135,199 (GRCm39) P28L probably damaging Het
Rnf207 C T 4: 152,396,989 (GRCm39) C385Y possibly damaging Het
Serping1 A C 2: 84,600,577 (GRCm39) V255G probably benign Het
Slc25a3 A T 10: 90,955,567 (GRCm39) V91E probably damaging Het
Slc26a8 T C 17: 28,857,455 (GRCm39) D896G probably benign Het
Slc27a5 T A 7: 12,731,443 (GRCm39) T183S probably benign Het
Slc33a1 A T 3: 63,850,744 (GRCm39) F527I probably benign Het
Sting1 T C 18: 35,872,482 (GRCm39) H50R probably damaging Het
Strn4 A T 7: 16,562,710 (GRCm39) D283V probably damaging Het
Sult1e1 G A 5: 87,734,625 (GRCm39) T107I probably damaging Het
Tango6 G A 8: 107,469,104 (GRCm39) probably null Het
Tecrl G T 5: 83,461,161 (GRCm39) P99T probably damaging Het
Ticrr T C 7: 79,343,705 (GRCm39) L1190P possibly damaging Het
Timm50 C T 7: 28,005,370 (GRCm39) R349H probably damaging Het
Tjp2 A G 19: 24,079,355 (GRCm39) I840T probably damaging Het
Tmem45a2 T A 16: 56,867,386 (GRCm39) N105I probably damaging Het
Tsbp1 T A 17: 34,678,935 (GRCm39) C216S possibly damaging Het
Zfp148 T A 16: 33,288,496 (GRCm39) C162S probably damaging Het
Zfp534 T C 4: 147,758,938 (GRCm39) K577R probably benign 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
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
R7990:Cryba1 UTSW 11 77,614,411 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- AGCTGAAGCAAAGCATTCTAGATC -3'
(R):5'- AACGTCTATCTTTGCTGGGAC -3'

Sequencing Primer
(F):5'- GAAGCAAAGCATTCTAGATCAGTAC -3'
(R):5'- CTTTGCTGGGACTAAACATGTACACC -3'
Posted On 2018-10-18