Incidental Mutation 'R5570:Crym'
ID 435612
Institutional Source Beutler Lab
Gene Symbol Crym
Ensembl Gene ENSMUSG00000030905
Gene Name crystallin, mu
Synonyms
MMRRC Submission 043127-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5570 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 119785603-119801212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119801116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 11 (E11G)
Ref Sequence ENSEMBL: ENSMUSP00000033198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033198] [ENSMUST00000084640]
AlphaFold O54983
PDB Structure Crystal structure of the apo form of mouse Mu-crystallin. [X-RAY DIFFRACTION]
Crystal structure of the NADPH form of mouse Mu-crystallin. [X-RAY DIFFRACTION]
Cristal structure of the NADPH-T3 form of mouse Mu-crystallin. [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000033198
AA Change: E11G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000033198
Gene: ENSMUSG00000030905
AA Change: E11G

DomainStartEndE-ValueType
Pfam:OCD_Mu_crystall 3 313 7.1e-113 PFAM
Pfam:Shikimate_DH 124 227 7.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084640
SMART Domains Protein: ENSMUSP00000081690
Gene: ENSMUSG00000062017

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 24 463 5.7e-23 PFAM
AAA 548 729 1.59e-10 SMART
Pfam:ABC2_membrane_3 902 1296 1.2e-36 PFAM
AAA 1384 1568 1.33e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143257
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. [provided by RefSeq, Sep 2014]
PHENOTYPE: At the euthyroid state, homozygotes display a normal growth curve, heart rate and hearing ability but have significantly reduced serum concentrations of triiodothyronine (T3) and thyroxine (T4). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrv1 C A 9: 36,605,577 (GRCm39) S41R probably damaging Het
Aqr G A 2: 113,979,451 (GRCm39) T328M probably damaging Het
Arhgap26 C A 18: 39,232,671 (GRCm39) D99E probably damaging Het
Boc G A 16: 44,313,187 (GRCm39) T559I probably damaging Het
Cadps A T 14: 12,473,497 (GRCm38) I876N possibly damaging Het
Cep72 T C 13: 74,188,260 (GRCm39) Q211R probably benign Het
Clmp T C 9: 40,683,826 (GRCm39) probably null Het
Coq6 T A 12: 84,415,413 (GRCm39) D145E probably benign Het
Defb36 T A 2: 152,454,503 (GRCm39) V54E probably damaging Het
Dlg5 C A 14: 24,242,981 (GRCm39) E55* probably null Het
Dock2 G T 11: 34,618,233 (GRCm39) R128S probably damaging Het
E330034G19Rik A G 14: 24,346,892 (GRCm39) K60E possibly damaging Het
Eps8l2 G A 7: 140,934,920 (GRCm39) R76Q possibly damaging Het
Espn T C 4: 152,208,237 (GRCm39) E460G probably damaging Het
Fbxl18 A G 5: 142,881,022 (GRCm39) probably benign Het
Fgd5 T C 6: 91,965,668 (GRCm39) S476P probably damaging Het
Gsto1 T C 19: 47,846,338 (GRCm39) W62R probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Gxylt1 A G 15: 93,152,180 (GRCm39) probably null Het
Hs6st1 C T 1: 36,142,719 (GRCm39) P218L probably benign Het
Kif5c A G 2: 49,620,211 (GRCm39) D226G possibly damaging Het
Krt1 A G 15: 101,755,340 (GRCm39) F473S probably benign Het
Lpxn T A 19: 12,810,023 (GRCm39) M265K possibly damaging Het
Map3k9 A G 12: 81,778,798 (GRCm39) L505P possibly damaging Het
Mcm3ap C T 10: 76,316,930 (GRCm39) R645W possibly damaging Het
Msr1 T C 8: 40,064,760 (GRCm39) I305V probably benign Het
Muc4 A G 16: 32,598,066 (GRCm39) E3237G possibly damaging Het
Necap1 T C 6: 122,858,471 (GRCm39) F105L probably damaging Het
Nploc4 C T 11: 120,275,440 (GRCm39) V499M probably benign Het
Nup93 T C 8: 95,041,298 (GRCm39) V812A probably damaging Het
Or10ak7 T A 4: 118,791,263 (GRCm39) I259F possibly damaging Het
Or6e1 A G 14: 54,519,825 (GRCm39) F176L probably damaging Het
Or9g3 G A 2: 85,589,994 (GRCm39) S242F probably damaging Het
Parn G A 16: 13,483,794 (GRCm39) P50L probably damaging Het
Pcdhb7 T C 18: 37,477,224 (GRCm39) C787R probably benign Het
Pdk2 A T 11: 94,920,826 (GRCm39) I175N probably damaging Het
Pelo T C 13: 115,226,152 (GRCm39) I102V probably benign Het
Phf12 A G 11: 77,908,937 (GRCm39) D339G possibly damaging Het
Phlpp1 A T 1: 106,101,162 (GRCm39) I477F probably benign Het
Pigt T A 2: 164,343,482 (GRCm39) Y319* probably null Het
Pmpca A G 2: 26,280,553 (GRCm39) E133G probably damaging Het
Ptgs2 A G 1: 149,979,859 (GRCm39) I321M Het
Pus7l G A 15: 94,425,746 (GRCm39) P552S probably benign Het
Qsox2 A G 2: 26,115,230 (GRCm39) M1T probably null Het
Rara C G 11: 98,863,478 (GRCm39) R382G probably damaging Het
Rbbp6 A G 7: 122,601,057 (GRCm39) probably benign Het
Rev3l T C 10: 39,728,071 (GRCm39) probably null Het
Robo3 T A 9: 37,336,571 (GRCm39) Y399F possibly damaging Het
Rpl31 C T 1: 39,409,108 (GRCm39) R41C probably benign Het
Skint3 A G 4: 112,092,995 (GRCm39) M20V probably benign Het
Slc17a6 A G 7: 51,308,504 (GRCm39) D276G probably benign Het
Sult3a2 A T 10: 33,654,268 (GRCm39) V128D probably damaging Het
Syt3 T A 7: 44,040,043 (GRCm39) V92E possibly damaging Het
Them7 A G 2: 105,209,153 (GRCm39) T158A probably benign Het
Utp14b G A 1: 78,643,118 (GRCm39) D339N probably damaging Het
Vars1 T C 17: 35,235,214 (GRCm39) F1259L probably benign Het
Vmn1r115 A C 7: 20,578,555 (GRCm39) V119G possibly damaging Het
Zc3h12a C T 4: 125,014,166 (GRCm39) R293H probably damaging Het
Zfp638 A T 6: 83,956,170 (GRCm39) E1592D probably damaging Het
Other mutations in Crym
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01562:Crym APN 7 119,794,622 (GRCm39) missense probably damaging 0.98
IGL03355:Crym APN 7 119,798,536 (GRCm39) splice site probably null
R0393:Crym UTSW 7 119,788,972 (GRCm39) missense probably benign 0.00
R1538:Crym UTSW 7 119,796,938 (GRCm39) missense probably benign 0.05
R2508:Crym UTSW 7 119,801,050 (GRCm39) missense probably benign 0.08
R3836:Crym UTSW 7 119,800,439 (GRCm39) missense probably benign 0.03
R4328:Crym UTSW 7 119,794,562 (GRCm39) missense probably damaging 1.00
R4723:Crym UTSW 7 119,800,298 (GRCm39) critical splice donor site probably null
R5046:Crym UTSW 7 119,794,667 (GRCm39) missense possibly damaging 0.71
R5122:Crym UTSW 7 119,794,718 (GRCm39) missense probably benign 0.00
R5266:Crym UTSW 7 119,798,517 (GRCm39) missense probably benign 0.00
R5427:Crym UTSW 7 119,798,445 (GRCm39) unclassified probably benign
R5567:Crym UTSW 7 119,801,116 (GRCm39) missense probably benign 0.00
R5704:Crym UTSW 7 119,801,163 (GRCm39) splice site probably null
R6835:Crym UTSW 7 119,785,868 (GRCm39) missense probably benign
R7274:Crym UTSW 7 119,789,742 (GRCm39) missense probably benign 0.03
R7536:Crym UTSW 7 119,800,331 (GRCm39) missense probably damaging 1.00
R8062:Crym UTSW 7 119,800,391 (GRCm39) missense probably damaging 1.00
R8281:Crym UTSW 7 119,801,250 (GRCm39) unclassified probably benign
R8940:Crym UTSW 7 119,794,703 (GRCm39) missense probably benign 0.16
R9015:Crym UTSW 7 119,801,090 (GRCm39) missense probably benign
R9324:Crym UTSW 7 119,789,005 (GRCm39) missense probably damaging 0.99
R9740:Crym UTSW 7 119,794,661 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- AGTGCCCCTTAAGTAGCAGC -3'
(R):5'- CCCTGGAATCCAAGGAGTTG -3'

Sequencing Primer
(F):5'- GCCCCTTAAGTAGCAGCTGTTATTAG -3'
(R):5'- CAAGGAGTTGGGGTGGGC -3'
Posted On 2016-10-24