Incidental Mutation 'R5567:Crym'
ID 436922
Institutional Source Beutler Lab
Gene Symbol Crym
Ensembl Gene ENSMUSG00000030905
Gene Name crystallin, mu
Synonyms
MMRRC Submission 043124-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5567 (G1)
Quality Score 189
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: 98.6%
  • 20x: 96.0%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 C T 6: 86,932,150 (GRCm39) Q374* probably null Het
Adam19 A G 11: 46,027,077 (GRCm39) D570G probably damaging Het
Aqr G A 2: 113,979,451 (GRCm39) T328M probably damaging Het
Bltp3b T A 10: 89,644,383 (GRCm39) M29K probably benign 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
Cdh9 A G 15: 16,855,930 (GRCm39) T657A probably damaging Het
Cep104 T C 4: 154,086,734 (GRCm39) S794P possibly damaging Het
Cep72 T C 13: 74,188,260 (GRCm39) Q211R probably benign Het
Coq6 T A 12: 84,415,413 (GRCm39) D145E probably benign Het
Csmd3 A T 15: 47,508,864 (GRCm39) M2907K possibly damaging Het
Cspg4 A C 9: 56,793,932 (GRCm39) I556L probably benign Het
Cwf19l2 T A 9: 3,456,831 (GRCm39) D721E probably damaging 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
Dna2 G T 10: 62,802,452 (GRCm39) A857S possibly 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
Fbxl18 A G 5: 142,881,022 (GRCm39) probably benign Het
Flnc T A 6: 29,444,044 (GRCm39) C619* probably null Het
Ftcd A G 10: 76,423,967 (GRCm39) K503E probably benign Het
Gbp2b C T 3: 142,317,126 (GRCm39) A494V possibly damaging Het
Gfral C T 9: 76,115,900 (GRCm39) A25T probably benign Het
Gins2 T A 8: 121,315,684 (GRCm39) D24V possibly damaging Het
Gm10985 T C 3: 53,752,683 (GRCm39) I22T probably damaging Het
Golga4 T A 9: 118,387,251 (GRCm39) S1458T probably damaging Het
Gpatch1 T C 7: 35,006,640 (GRCm39) K176R 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
Itpr3 C T 17: 27,322,880 (GRCm39) T1119M possibly damaging Het
Kif5c A G 2: 49,620,211 (GRCm39) D226G possibly damaging Het
Klk1b1 T A 7: 43,620,593 (GRCm39) S228T probably damaging Het
Krt1 A G 15: 101,755,340 (GRCm39) F473S probably benign Het
Large1 A G 8: 73,564,081 (GRCm39) S562P possibly damaging Het
Lpxn T A 19: 12,810,023 (GRCm39) M265K possibly damaging Het
Lrriq1 G A 10: 103,006,457 (GRCm39) P1223S possibly damaging Het
Map3k9 A G 12: 81,778,798 (GRCm39) L505P possibly damaging Het
Morn2 A G 17: 80,604,709 (GRCm39) D128G probably damaging Het
Msl2 A G 9: 100,978,936 (GRCm39) K437E 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
Mxra8 T C 4: 155,925,465 (GRCm39) M58T probably damaging Het
Myo16 A G 8: 10,372,676 (GRCm39) D125G probably damaging Het
Myom2 A G 8: 15,152,546 (GRCm39) Q631R probably benign Het
Nlrp1b T A 11: 71,072,229 (GRCm39) H538L probably benign Het
Nme3 T A 17: 25,115,823 (GRCm39) probably null Het
Nop2 T C 6: 125,110,726 (GRCm39) S68P probably benign Het
Nploc4 C T 11: 120,275,440 (GRCm39) V499M probably benign Het
Nub1 A G 5: 24,913,814 (GRCm39) E565G possibly damaging Het
Or1e19 C T 11: 73,316,272 (GRCm39) C179Y probably damaging Het
Or6e1 A G 14: 54,519,825 (GRCm39) F176L probably damaging Het
Or7e168 A G 9: 19,719,674 (GRCm39) D20G probably damaging Het
Or9g3 G A 2: 85,589,994 (GRCm39) S242F probably damaging Het
Parl A G 16: 20,101,762 (GRCm39) M90T probably damaging Het
Pelo T C 13: 115,226,152 (GRCm39) I102V probably benign Het
Pigt T A 2: 164,343,482 (GRCm39) Y319* probably null Het
Plb1 A G 5: 32,521,543 (GRCm39) T1465A unknown Het
Plxna4 T C 6: 32,134,915 (GRCm39) N1763D possibly damaging Het
Pmpca A G 2: 26,280,553 (GRCm39) E133G probably damaging 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
Ralb C T 1: 119,411,265 (GRCm39) V25I probably damaging Het
Rbbp6 A G 7: 122,601,057 (GRCm39) probably benign Het
Rnf43 A G 11: 87,618,271 (GRCm39) E187G probably damaging Het
Rpl31 C T 1: 39,409,108 (GRCm39) R41C probably benign Het
Scap A G 9: 110,206,712 (GRCm39) S386G probably damaging Het
Skint10 T C 4: 112,573,067 (GRCm39) Y243C probably damaging Het
Stpg2 A G 3: 139,125,547 (GRCm39) T447A probably benign Het
Tas1r1 G A 4: 152,122,782 (GRCm39) A21V probably damaging Het
Tas2r122 C T 6: 132,688,335 (GRCm39) G186E probably benign Het
Tenm4 C A 7: 96,545,416 (GRCm39) Y2477* probably null Het
Them7 A G 2: 105,209,153 (GRCm39) T158A probably benign Het
Tmcc2 A C 1: 132,285,543 (GRCm39) S608A probably benign Het
Ttc41 T C 10: 86,596,784 (GRCm39) probably null Het
Ttk T A 9: 83,744,588 (GRCm39) N593K possibly damaging Het
Tulp1 A G 17: 28,578,172 (GRCm39) V289A possibly damaging Het
Unc93a2 T C 17: 7,631,202 (GRCm39) T456A probably benign Het
Usp34 A C 11: 23,438,336 (GRCm39) Q278P probably damaging Het
Vmn2r78 T A 7: 86,570,737 (GRCm39) D418E probably benign Het
Vmn2r90 C T 17: 17,932,336 (GRCm39) A81V probably damaging Het
Xpc T A 6: 91,475,117 (GRCm39) N636I probably damaging Het
Zfp563 A T 17: 33,308,431 (GRCm39) probably benign 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
R5570: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'- TGCCCCTTAAGTAGCAGCTG -3'
(R):5'- CCCTGGAATCCAAGGAGTTG -3'

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