Incidental Mutation 'G5030:Cryzl2'
ID508
Institutional Source Beutler Lab
Gene Symbol Cryzl2
Ensembl Gene ENSMUSG00000033488
Gene Namecrystallin zeta like 2
SynonymsBC026585, quinone reductase-like 2
Accession Numbers

Genbank: NM_001033284

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #G5030 (G3) of strain 560
Quality Score
Status Validated
Chromosome1
Chromosomal Location157458577-157492638 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 157465010 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 48 (Q48*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046743] [ENSMUST00000119891] [ENSMUST00000193791]
Predicted Effect probably null
Transcript: ENSMUST00000046743
AA Change: Q121*
SMART Domains Protein: ENSMUSP00000044945
Gene: ENSMUSG00000033488
AA Change: Q121*

DomainStartEndE-ValueType
Pfam:ADH_N 51 174 4.1e-14 PFAM
Pfam:ADH_zinc_N 175 309 2.5e-23 PFAM
Pfam:ADH_zinc_N_2 208 347 2.8e-16 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000119891
AA Change: Q121*
SMART Domains Protein: ENSMUSP00000113664
Gene: ENSMUSG00000033488
AA Change: Q121*

DomainStartEndE-ValueType
Pfam:ADH_N 51 159 1.1e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000193791
AA Change: Q121*
SMART Domains Protein: ENSMUSP00000141717
Gene: ENSMUSG00000033488
AA Change: Q121*

DomainStartEndE-ValueType
Pfam:ADH_N 51 159 1.9e-15 PFAM
low complexity region 166 180 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000195702
AA Change: Q48*
Meta Mutation Damage Score 0.6608 question?
Coding Region Coverage
  • 1x: 81.1%
  • 3x: 60.2%
Het Detection Efficiency35.6%
Validation Efficiency 87% (206/237)
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T A 11: 110,070,339 I585F probably damaging Het
Adam18 C G 8: 24,651,856 L232F probably benign Homo
Atp13a4 A G 16: 29,455,488 I385T probably damaging Homo
Ccdc17 T A 4: 116,598,502 S277T probably benign Het
Ccng1 A G 11: 40,753,802 probably benign Het
Ces1f T C 8: 93,274,219 D99G probably benign Het
Clec16a G A 16: 10,571,561 R187Q probably damaging Homo
Cryl1 C T 14: 57,342,138 probably benign Het
Dtx4 A G 19: 12,469,579 L583P probably benign Het
Ephx4 A T 5: 107,429,827 D339V probably damaging Het
Eri2 A T 7: 119,786,378 V300E possibly damaging Het
F3 T A 3: 121,724,999 N37K probably damaging Homo
Fpr1 A T 17: 17,876,806 L307H probably damaging Het
Fv1 T A 4: 147,869,161 N61K possibly damaging Het
Gm5548 T C 3: 113,054,196 noncoding transcript Homo
Il1r1 A G 1: 40,313,163 K498E possibly damaging Homo
Myh11 T C 16: 14,250,579 I192M probably damaging Homo
Nckap5 T C 1: 126,025,854 K923R probably damaging Het
Nmbr A T 10: 14,767,003 Y102F possibly damaging Het
Olfr790 A G 10: 129,501,537 T218A probably benign Homo
Pde1a C T 2: 79,887,836 probably benign Het
Pex6 T C 17: 46,715,456 probably benign Het
Rtn2 T C 7: 19,293,174 S305P probably damaging Homo
Saal1 G A 7: 46,692,783 T412I probably damaging Homo
Slc46a2 A T 4: 59,913,867 I352N probably damaging Het
Trim37 A T 11: 87,143,141 H99L probably damaging Het
Tubgcp4 C T 2: 121,184,334 R242C probably damaging Het
Twf2 C A 9: 106,206,942 L27I possibly damaging Het
Usp40 A T 1: 87,994,219 H307Q probably damaging Het
Zfhx3 T G 8: 108,951,459 V3047G possibly damaging Het
Other mutations in Cryzl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00808:Cryzl2 APN 1 157470676 missense probably benign
IGL01481:Cryzl2 APN 1 157470739 unclassified probably null
IGL01878:Cryzl2 APN 1 157472400 missense possibly damaging 0.70
IGL02596:Cryzl2 APN 1 157464969 missense probably damaging 1.00
R0399:Cryzl2 UTSW 1 157462016 missense probably damaging 1.00
R0402:Cryzl2 UTSW 1 157464444 missense probably benign 0.00
R0518:Cryzl2 UTSW 1 157464430 missense probably damaging 1.00
R0761:Cryzl2 UTSW 1 157465724 missense probably benign 0.15
R1104:Cryzl2 UTSW 1 157470604 splice site probably benign
R1471:Cryzl2 UTSW 1 157470721 missense probably benign 0.01
R1773:Cryzl2 UTSW 1 157470722 missense probably benign 0.01
R4752:Cryzl2 UTSW 1 157458649 splice site probably null
R5046:Cryzl2 UTSW 1 157465013 missense probably damaging 1.00
R5389:Cryzl2 UTSW 1 157461976 nonsense probably null
R5778:Cryzl2 UTSW 1 157470787 missense probably benign 0.00
R6928:Cryzl2 UTSW 1 157470787 missense probably benign 0.00
R7037:Cryzl2 UTSW 1 157470748 missense probably damaging 0.99
R7099:Cryzl2 UTSW 1 157488584 critical splice donor site probably benign
Z1088:Cryzl2 UTSW 1 157465789 missense probably benign 0.22
Nature of Mutation
DNA sequencing using the SOLiD technique identified a C to T transition at position 375 of the BC026585 transcript in exon 5 of 10 total exons. Two transcripts of the BC026585 gene are displayed on Ensembl and Vega. The mutated nucleotide introduces a premature stop codon at glutamine 121 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction

The BC026585 gene encodes the 350 amino acid quinone oxidoreductase-like protein 2 that belongs to the zinc-containing alcohol dehydrogenase family. Two isoforms are produced by alternative splicing (Uniprot Q3UNZ8).

The premature stop introduced by the Schellenmuetze mutation in the BC026585 gene truncates 240 amino acids from the C-terminus of the protein. This allele is likely null.
Posted On2010-10-26