Incidental Mutation 'R1199:Crygn'
ID 101188
Institutional Source Beutler Lab
Gene Symbol Crygn
Ensembl Gene ENSMUSG00000038135
Gene Name crystallin, gamma N
Synonyms
MMRRC Submission 039269-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R1199 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 24956000-24962846 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24956146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 153 (Y153C)
Ref Sequence ENSEMBL: ENSMUSP00000035860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047119]
AlphaFold Q8VHL5
Predicted Effect probably damaging
Transcript: ENSMUST00000047119
AA Change: Y153C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035860
Gene: ENSMUSG00000038135
AA Change: Y153C

DomainStartEndE-ValueType
XTALbg 7 88 1.14e-36 SMART
XTALbg 96 179 5.94e-35 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123386
Meta Mutation Damage Score 0.1762 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.5%
Validation Efficiency 96% (55/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the crystallin family of proteins that are localized to the refractive structure of vertebrate eye lenses. The protein encoded by this gene is unique in that it has both beta and gamma crystallin protein motifs. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a conditional allele activated in rhombomeres 3 and 5 derived neurons exhibit reduced MNTB volumne between P4 and P25 with increase in the amplitude of wave IV ABR. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A T 9: 108,270,676 (GRCm39) H80L possibly damaging Het
A1bg A T 15: 60,791,484 (GRCm39) probably null Het
Aco2 C T 15: 81,779,394 (GRCm39) S33L probably damaging Het
Agrn T A 4: 156,256,756 (GRCm39) Y1283F probably benign Het
Akap6 T C 12: 52,842,973 (GRCm39) V107A probably damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Btnl9 A T 11: 49,071,574 (GRCm39) V83E probably damaging Het
Camk2a T A 18: 61,085,396 (GRCm39) C131* probably null Het
Ccdc14 C T 16: 34,544,198 (GRCm39) T852M probably damaging Het
Cntn4 T C 6: 106,330,558 (GRCm39) probably benign Het
Cp T G 3: 20,031,316 (GRCm39) S585R probably damaging Het
Cpt1b G A 15: 89,303,213 (GRCm39) A614V probably benign Het
Dennd1a A T 2: 37,851,728 (GRCm39) D53E probably damaging Het
Deptor T C 15: 55,115,406 (GRCm39) C357R probably benign Het
Dnajc28 C A 16: 91,415,530 (GRCm39) probably benign Het
Eml6 G A 11: 29,705,044 (GRCm39) A1500V possibly damaging Het
Fgd5 T A 6: 91,963,959 (GRCm39) L64Q possibly damaging Het
Fgfbp1 A G 5: 44,136,939 (GRCm39) Y118H probably damaging Het
Ftcd G A 10: 76,415,653 (GRCm39) R135H probably damaging Het
Gm5174 A T 10: 86,493,189 (GRCm39) noncoding transcript Het
Gpr37l1 A T 1: 135,094,710 (GRCm39) L178Q probably damaging Het
Gtf2ird1 A G 5: 134,439,918 (GRCm39) V104A possibly damaging Het
Irs1 T A 1: 82,267,347 (GRCm39) S290C probably damaging Het
Kel C T 6: 41,665,525 (GRCm39) V532I possibly damaging Het
Kif1c A G 11: 70,599,427 (GRCm39) E442G possibly damaging Het
Klhdc10 T A 6: 30,449,493 (GRCm39) V185D probably damaging Het
Lpp C T 16: 24,500,610 (GRCm39) R141C probably damaging Het
Or52a5 A T 7: 103,427,192 (GRCm39) M120K probably damaging Het
Or5m13 A G 2: 85,748,379 (GRCm39) I37V probably benign Het
Pcnx2 G T 8: 126,614,053 (GRCm39) P466H possibly damaging Het
Pcsk1 A T 13: 75,244,532 (GRCm39) probably benign Het
Pkd2l2 T C 18: 34,571,269 (GRCm39) probably null Het
Pomt1 A G 2: 32,140,504 (GRCm39) N454S probably benign Het
Samhd1 A T 2: 156,951,381 (GRCm39) I452N probably damaging Het
Sez6 A G 11: 77,844,711 (GRCm39) Q178R probably benign Het
Slc25a44 A G 3: 88,328,293 (GRCm39) V66A probably damaging Het
Slc46a2 T C 4: 59,914,189 (GRCm39) T245A probably benign Het
Slc4a4 G A 5: 89,363,653 (GRCm39) probably null Het
Spata6 T A 4: 111,656,342 (GRCm39) C329S possibly damaging Het
Srrm2 A T 17: 24,036,725 (GRCm39) probably benign Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Svil T A 18: 5,059,217 (GRCm39) probably benign Het
Tenm3 G T 8: 48,688,617 (GRCm39) S2323R probably damaging Het
Tsc1 G A 2: 28,555,638 (GRCm39) R245Q probably damaging Het
Ttn A G 2: 76,739,100 (GRCm39) V3813A probably benign Het
Ttn G A 2: 76,780,388 (GRCm39) T1121M possibly damaging Het
Ush2a G A 1: 188,491,992 (GRCm39) V3094I probably benign Het
Vcan A G 13: 89,827,913 (GRCm39) probably null Het
Vmn1r189 A T 13: 22,286,828 (GRCm39) L3Q probably damaging Het
Vmn1r60 A C 7: 5,547,971 (GRCm39) V43G probably damaging Het
Vmn2r110 A G 17: 20,803,525 (GRCm39) I350T probably benign Het
Vmn2r86 T A 10: 130,284,443 (GRCm39) probably benign Het
Xrn1 A G 9: 95,863,814 (GRCm39) probably benign Het
Zfp251 C T 15: 76,738,436 (GRCm39) R219Q possibly damaging Het
Other mutations in Crygn
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0195:Crygn UTSW 5 24,961,036 (GRCm39) missense possibly damaging 0.82
R4665:Crygn UTSW 5 24,956,019 (GRCm39) utr 3 prime probably benign
R5199:Crygn UTSW 5 24,961,156 (GRCm39) missense probably damaging 0.96
R6268:Crygn UTSW 5 24,961,189 (GRCm39) missense probably damaging 1.00
R7337:Crygn UTSW 5 24,961,147 (GRCm39) missense possibly damaging 0.83
R7832:Crygn UTSW 5 24,961,072 (GRCm39) missense probably benign 0.09
R8136:Crygn UTSW 5 24,956,090 (GRCm39) missense probably benign 0.01
R9591:Crygn UTSW 5 24,961,073 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTCCCAGCAAGCAAGCTTCCTC -3'
(R):5'- GTCAATTACTGGGCAGTCCCCATC -3'

Sequencing Primer
(F):5'- ttcctcttctcccccacc -3'
(R):5'- ATCTTGTCGAACCCCAGC -3'
Posted On 2014-01-15