Incidental Mutation 'IGL03275:Crnn'
ID415390
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crnn
Ensembl Gene ENSMUSG00000078657
Gene Namecornulin
SynonymsLOC381457
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL03275
Quality Score
Status
Chromosome3
Chromosomal Location93144787-93149819 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93149418 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 504 (K504E)
Ref Sequence ENSEMBL: ENSMUSP00000141980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107300] [ENSMUST00000195515]
Predicted Effect possibly damaging
Transcript: ENSMUST00000107300
AA Change: K504E

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102921
Gene: ENSMUSG00000078657
AA Change: K504E

DomainStartEndE-ValueType
Pfam:S_100 4 45 1.9e-12 PFAM
Blast:EFh 53 81 1e-10 BLAST
low complexity region 181 192 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192830
Predicted Effect possibly damaging
Transcript: ENSMUST00000195515
AA Change: K504E

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141980
Gene: ENSMUSG00000078657
AA Change: K504E

DomainStartEndE-ValueType
Pfam:S_100 4 47 1.2e-10 PFAM
Blast:EFh 53 81 1e-10 BLAST
low complexity region 181 192 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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 "fused gene" family of proteins, which contain N-terminus EF-hand domains and multiple tandem peptide repeats. The encoded protein contains two EF-hand Ca2+ binding domains in its N-terminus and two glutamine- and threonine-rich 60 amino acid repeats in its C-terminus. This gene, also known as squamous epithelial heat shock protein 53, may play a role in the mucosal/epithelial immune response and epidermal differentiation. [provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T A 8: 72,445,124 L125H probably damaging Het
2210408I21Rik A T 13: 77,298,555 T816S possibly damaging Het
Aspm T A 1: 139,487,295 I1438N probably damaging Het
BC005561 T A 5: 104,518,277 C222S probably benign Het
Bicdl1 A G 5: 115,731,160 Y134H probably damaging Het
Btnl1 A T 17: 34,385,512 K422N probably damaging Het
Ccdc158 T A 5: 92,629,632 I941F probably benign Het
Csmd1 T A 8: 16,157,092 I1308L probably benign Het
Cwf19l1 T C 19: 44,123,257 M246V probably benign Het
Desi1 T A 15: 82,003,762 I36F probably damaging Het
Foxf2 A G 13: 31,626,531 N151S probably damaging Het
Fryl A G 5: 73,148,033 V35A possibly damaging Het
Gabrg3 T C 7: 56,773,347 Y201C probably damaging Het
Gm11487 T A 4: 73,403,416 R127S possibly damaging Het
Gm813 T C 16: 58,615,756 Y68C probably damaging Het
Grb10 T A 11: 11,933,591 T500S possibly damaging Het
Hsdl2 A G 4: 59,617,747 *371W probably null Het
Irf7 C A 7: 141,265,146 R49L probably damaging Het
Itpr2 T C 6: 146,158,877 probably benign Het
Jam3 T C 9: 27,101,249 T201A probably damaging Het
Mst1 T C 9: 108,084,388 S606P possibly damaging Het
Olfr483 T A 7: 108,103,608 C100S probably damaging Het
Otog A G 7: 46,306,230 E2800G probably damaging Het
Ptpro C T 6: 137,450,006 P292S probably damaging Het
Rab10 A T 12: 3,256,959 Y79N probably damaging Het
Rc3h1 T C 1: 160,959,555 probably null Het
Slc2a3 C T 6: 122,736,742 probably null Het
Sptbn2 T C 19: 4,732,661 Y542H possibly damaging Het
Tas2r110 T C 6: 132,868,098 F31L probably damaging Het
Ttn A G 2: 76,945,107 S1864P probably damaging Het
Ttn A G 2: 76,717,344 S32161P probably damaging Het
Vmn1r228 A G 17: 20,776,842 I138T probably damaging Het
Vmn2r10 T A 5: 109,003,377 T124S probably benign Het
Other mutations in Crnn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Crnn APN 3 93148212 missense probably damaging 1.00
IGL01343:Crnn APN 3 93148326 missense probably benign 0.01
IGL02393:Crnn APN 3 93149368 missense probably damaging 0.99
IGL03220:Crnn APN 3 93149367 missense possibly damaging 0.49
R1698:Crnn UTSW 3 93148458 missense probably damaging 0.97
R1745:Crnn UTSW 3 93146891 missense probably benign 0.33
R1761:Crnn UTSW 3 93148651 missense probably benign
R1974:Crnn UTSW 3 93149287 missense probably benign 0.01
R2109:Crnn UTSW 3 93148440 missense probably benign 0.43
R4179:Crnn UTSW 3 93146813 start codon destroyed probably null 1.00
R4976:Crnn UTSW 3 93148683 missense probably benign 0.12
R5120:Crnn UTSW 3 93148896 missense probably benign 0.03
R5425:Crnn UTSW 3 93149149 missense probably benign
R5695:Crnn UTSW 3 93149023 missense probably damaging 0.98
R6596:Crnn UTSW 3 93146875 missense probably damaging 1.00
R6981:Crnn UTSW 3 93148135 missense probably damaging 1.00
R7145:Crnn UTSW 3 93148382 missense probably damaging 1.00
R7170:Crnn UTSW 3 93148713 missense possibly damaging 0.85
R7365:Crnn UTSW 3 93148534 missense probably damaging 0.97
R7375:Crnn UTSW 3 93149145 missense possibly damaging 0.87
R7511:Crnn UTSW 3 93149416 missense probably damaging 1.00
Z1177:Crnn UTSW 3 93149296 missense probably damaging 1.00
Posted On2016-08-02