Incidental Mutation 'IGL03323:Cldn12'
ID416559
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cldn12
Ensembl Gene ENSMUSG00000046798
Gene Nameclaudin 12
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03323
Quality Score
Status
Chromosome5
Chromosomal Location5489537-5514958 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 5508421 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Valine at position 2 (G2V)
Ref Sequence ENSEMBL: ENSMUSP00000136988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060947] [ENSMUST00000115445] [ENSMUST00000115446] [ENSMUST00000125110] [ENSMUST00000179804]
Predicted Effect probably damaging
Transcript: ENSMUST00000060947
AA Change: G2V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000061928
Gene: ENSMUSG00000046798
AA Change: G2V

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 85 107 N/A INTRINSIC
transmembrane domain 134 156 N/A INTRINSIC
transmembrane domain 176 198 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115445
AA Change: G2V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000111105
Gene: ENSMUSG00000046798
AA Change: G2V

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 85 107 N/A INTRINSIC
transmembrane domain 134 156 N/A INTRINSIC
transmembrane domain 176 198 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115446
AA Change: G2V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000111106
Gene: ENSMUSG00000046798
AA Change: G2V

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 85 107 N/A INTRINSIC
transmembrane domain 134 156 N/A INTRINSIC
transmembrane domain 176 198 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000125110
AA Change: G2V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134931
Predicted Effect probably damaging
Transcript: ENSMUST00000179804
AA Change: G2V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136988
Gene: ENSMUSG00000046798
AA Change: G2V

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 85 107 N/A INTRINSIC
transmembrane domain 134 156 N/A INTRINSIC
transmembrane domain 176 198 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198303
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene, along with several other family members, is expressed in the inner ear. The protein encoded by this gene and another family member, claudin 2, are critical for vitamin D-dependent Ca2+ absorption between enterocytes. Multiple alternatively spliced transcript variants encoding the same protein have been found. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 A T 14: 103,055,294 D418V probably damaging Het
Ahdc1 G A 4: 133,065,428 G1327S probably benign Het
Bcl2l15 A T 3: 103,833,403 I62L probably benign Het
Ccdc7a A T 8: 129,058,763 D105E probably benign Het
Eapp G T 12: 54,673,615 H272N probably damaging Het
Fcrla A G 1: 170,927,545 probably benign Het
Fmnl3 C T 15: 99,321,281 G787S probably damaging Het
Fmo5 G T 3: 97,639,007 probably null Het
Golgb1 G T 16: 36,913,453 E1021* probably null Het
Hspa4 A T 11: 53,265,133 N648K probably benign Het
Iigp1 T C 18: 60,389,824 F5L probably benign Het
Lad1 T A 1: 135,830,974 probably null Het
Man2b2 T C 5: 36,818,514 D399G probably benign Het
Mc5r C T 18: 68,339,215 T215I probably benign Het
Mx2 A G 16: 97,546,375 S156G probably damaging Het
Necap2 A T 4: 141,068,222 I242N possibly damaging Het
Nme8 C T 13: 19,688,950 E175K probably benign Het
Notch4 T A 17: 34,582,471 C1098S probably damaging Het
Olfr345 T A 2: 36,640,141 M34K possibly damaging Het
Olfr8 T C 10: 78,955,600 Y132H probably benign Het
Osbpl9 A G 4: 109,062,459 probably benign Het
Prag1 T C 8: 36,140,008 S968P probably damaging Het
Qsox2 A G 2: 26,220,979 S125P probably benign Het
Rptn A G 3: 93,397,153 T598A probably benign Het
Slc2a2 G A 3: 28,726,290 M375I probably damaging Het
Tmed9 C T 13: 55,596,878 T173I probably damaging Het
Trank1 A G 9: 111,352,116 D402G probably damaging Het
Ttc21a G T 9: 119,940,536 probably benign Het
Vmn2r58 T C 7: 41,861,871 M503V probably benign Het
Other mutations in Cldn12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1499:Cldn12 UTSW 5 5507900 missense probably benign 0.28
R1971:Cldn12 UTSW 5 5508137 missense probably benign 0.16
R2350:Cldn12 UTSW 5 5507845 missense possibly damaging 0.55
R4450:Cldn12 UTSW 5 5508398 missense probably damaging 0.99
R4665:Cldn12 UTSW 5 5508385 missense probably damaging 1.00
R4724:Cldn12 UTSW 5 5508385 missense probably damaging 1.00
R4725:Cldn12 UTSW 5 5508385 missense probably damaging 1.00
R4728:Cldn12 UTSW 5 5508385 missense probably damaging 1.00
R6961:Cldn12 UTSW 5 5507707 missense probably damaging 1.00
R7485:Cldn12 UTSW 5 5508008 missense probably benign 0.06
R7857:Cldn12 UTSW 5 5508209 missense probably benign
R7940:Cldn12 UTSW 5 5508209 missense probably benign
Posted On2016-08-02