Incidental Mutation 'R2913:Cryl1'
ID 254766
Institutional Source Beutler Lab
Gene Symbol Cryl1
Ensembl Gene ENSMUSG00000021947
Gene Name crystallin, lambda 1
Synonyms 1110025H08Rik, A230106J09Rik
MMRRC Submission 040500-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R2913 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 57512491-57635940 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57513375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 282 (E282G)
Ref Sequence ENSEMBL: ENSMUSP00000022517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022517]
AlphaFold Q99KP3
Predicted Effect probably benign
Transcript: ENSMUST00000022517
AA Change: E282G

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022517
Gene: ENSMUSG00000021947
AA Change: E282G

DomainStartEndE-ValueType
Pfam:3HCDH_N 8 190 3.4e-53 PFAM
Pfam:3HCDH 192 282 8.9e-17 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in the uronate cycle. The enzyme requires NAD(H) as a coenzyme, and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(5) : Targeted, other(2) Gene trapped(3)

Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,934,887 (GRCm39) Q357R probably damaging Het
Adap1 C T 5: 139,260,576 (GRCm39) probably null Het
Adgrf3 A G 5: 30,401,992 (GRCm39) S679P probably damaging Het
Aldh3b1 T C 19: 3,971,275 (GRCm39) probably benign Het
Arih2 A G 9: 108,521,275 (GRCm39) S68P probably damaging Het
Cdcp3 T C 7: 130,783,753 (GRCm39) S49P possibly damaging Het
Col1a2 C T 6: 4,519,923 (GRCm39) probably benign Het
Cplane1 T C 15: 8,300,169 (GRCm39) S3159P unknown Het
Crocc C T 4: 140,747,661 (GRCm39) R1496H probably damaging Het
Cyp11b1 T C 15: 74,708,270 (GRCm39) T402A probably damaging Het
Etfa C A 9: 55,389,613 (GRCm39) A254S probably damaging Het
Fcgbpl1 A T 7: 27,863,732 (GRCm39) L2501F probably damaging Het
Fdxacb1 C T 9: 50,679,699 (GRCm39) A39V probably benign Het
Fras1 G A 5: 96,881,774 (GRCm39) R2502K probably benign Het
Gpr157 G A 4: 150,183,222 (GRCm39) V131I probably benign Het
Hbb-bh1 C T 7: 103,492,254 (GRCm39) E22K possibly damaging Het
Hmcn2 A G 2: 31,350,222 (GRCm39) T5040A possibly damaging Het
Hprt1 T C X: 52,109,016 (GRCm39) Y174H probably damaging Het
Igsf10 T A 3: 59,239,157 (GRCm39) L341F possibly damaging Het
Ints1 A G 5: 139,743,668 (GRCm39) S1592P possibly damaging Het
Itgam T C 7: 127,711,578 (GRCm39) I641T probably damaging Het
Macf1 T A 4: 123,369,704 (GRCm39) I121F probably damaging Het
Mapk3 T A 7: 126,359,978 (GRCm39) C19* probably null Het
Mapk4 C T 18: 74,068,236 (GRCm39) A232T probably benign Het
Med26 T G 8: 73,249,956 (GRCm39) K381T possibly damaging Het
Mki67 T C 7: 135,302,415 (GRCm39) E873G possibly damaging Het
Mrgpra9 T C 7: 46,884,828 (GRCm39) I280V probably benign Het
Mroh9 T C 1: 162,871,572 (GRCm39) Y637C probably damaging Het
Nktr T C 9: 121,578,670 (GRCm39) probably benign Het
Or4c11 A T 2: 88,695,458 (GRCm39) N170Y probably benign Het
Or5j3 A G 2: 86,128,733 (GRCm39) D191G probably damaging Het
Pam A C 1: 97,850,854 (GRCm39) L168R probably damaging Het
Pikfyve G A 1: 65,292,676 (GRCm39) V1376M probably damaging Het
Pomt2 A T 12: 87,175,743 (GRCm39) N400K probably damaging Het
Pramel13 T C 4: 144,119,304 (GRCm39) E421G probably damaging Het
Rbm45 C T 2: 76,205,798 (GRCm39) P217S probably benign Het
Rc3h2 A G 2: 37,268,971 (GRCm39) S832P possibly damaging Het
Ric3 A G 7: 108,653,660 (GRCm39) F144L possibly damaging Het
Rrh G T 3: 129,609,258 (GRCm39) A83E probably damaging Het
Rspo2 T A 15: 42,941,510 (GRCm39) T138S probably benign Het
Skint5 A G 4: 113,381,289 (GRCm39) probably benign Het
Snx29 C T 16: 11,265,317 (GRCm39) R516W probably damaging Het
Spata31d1d T C 13: 59,874,769 (GRCm39) E922G possibly damaging Het
Spc25 T C 2: 69,030,331 (GRCm39) H104R probably benign Het
Sptssa A T 12: 54,703,267 (GRCm39) M1K probably null Het
Srrm2 G T 17: 24,034,658 (GRCm39) probably benign Het
Tcof1 T C 18: 60,949,156 (GRCm39) D1253G possibly damaging Het
Tmem181c-ps A G 17: 6,888,608 (GRCm39) noncoding transcript Het
Tmprss15 T C 16: 78,759,078 (GRCm39) N880S probably benign Het
Trio T A 15: 27,854,998 (GRCm39) Q728L probably damaging Het
Txk T C 5: 72,881,794 (GRCm39) N154S probably damaging Het
Vwf T A 6: 125,662,809 (GRCm39) V2731E probably benign Het
Yes1 T C 5: 32,797,926 (GRCm39) S82P probably benign Het
Zgrf1 T C 3: 127,392,356 (GRCm39) V1292A possibly damaging Het
Other mutations in Cryl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Cryl1 APN 14 57,523,821 (GRCm39) critical splice donor site probably null
IGL02117:Cryl1 APN 14 57,523,904 (GRCm39) missense probably damaging 1.00
IGL02556:Cryl1 APN 14 57,513,478 (GRCm39) missense probably benign 0.00
IGL02749:Cryl1 APN 14 57,541,181 (GRCm39) missense probably benign 0.03
IGL03108:Cryl1 APN 14 57,550,534 (GRCm39) missense probably damaging 1.00
G5030:Cryl1 UTSW 14 57,579,595 (GRCm39) intron probably benign
R0391:Cryl1 UTSW 14 57,541,232 (GRCm39) missense possibly damaging 0.94
R2087:Cryl1 UTSW 14 57,513,402 (GRCm39) missense possibly damaging 0.84
R2155:Cryl1 UTSW 14 57,635,880 (GRCm39) missense unknown
R2263:Cryl1 UTSW 14 57,523,865 (GRCm39) nonsense probably null
R2914:Cryl1 UTSW 14 57,513,375 (GRCm39) missense probably benign 0.19
R4747:Cryl1 UTSW 14 57,550,559 (GRCm39) missense probably damaging 1.00
R5482:Cryl1 UTSW 14 57,550,469 (GRCm39) missense probably damaging 0.99
R5977:Cryl1 UTSW 14 57,620,236 (GRCm39) missense probably benign 0.02
R6792:Cryl1 UTSW 14 57,620,224 (GRCm39) missense probably damaging 0.97
R7134:Cryl1 UTSW 14 57,512,956 (GRCm39) missense probably benign
R7409:Cryl1 UTSW 14 57,523,842 (GRCm39) missense probably damaging 1.00
R7522:Cryl1 UTSW 14 57,513,428 (GRCm39) missense probably benign
R7653:Cryl1 UTSW 14 57,541,148 (GRCm39) missense probably benign 0.01
R7711:Cryl1 UTSW 14 57,513,013 (GRCm39) missense probably benign 0.01
R7785:Cryl1 UTSW 14 57,512,938 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- AAGTCAAAACGAGCTGCTGG -3'
(R):5'- CCCAGGATAGACTCTTCTGCAG -3'

Sequencing Primer
(F):5'- GCTGGTCGCCATCACCTTG -3'
(R):5'- CTTCTGCAGAGGTCTCAGCTG -3'
Posted On 2014-12-29