Incidental Mutation 'R2350:Cldn12'
ID 246053
Institutional Source Beutler Lab
Gene Symbol Cldn12
Ensembl Gene ENSMUSG00000046798
Gene Name claudin 12
Synonyms
MMRRC Submission 040332-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2350 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 5555015-5564976 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5557845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 194 (V194D)
Ref Sequence ENSEMBL: ENSMUSP00000136988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060947] [ENSMUST00000115445] [ENSMUST00000115446] [ENSMUST00000125110] [ENSMUST00000179804]
AlphaFold Q9ET43
Predicted Effect possibly damaging
Transcript: ENSMUST00000060947
AA Change: V194D

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000061928
Gene: ENSMUSG00000046798
AA Change: V194D

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 possibly damaging
Transcript: ENSMUST00000115445
AA Change: V194D

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000111105
Gene: ENSMUSG00000046798
AA Change: V194D

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 possibly damaging
Transcript: ENSMUST00000115446
AA Change: V194D

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000111106
Gene: ENSMUSG00000046798
AA Change: V194D

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 benign
Transcript: ENSMUST00000125110
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134931
Predicted Effect possibly damaging
Transcript: ENSMUST00000179804
AA Change: V194D

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136988
Gene: ENSMUSG00000046798
AA Change: V194D

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (40/40)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A C 6: 121,655,047 (GRCm39) probably benign Het
Adam12 T C 7: 133,521,253 (GRCm39) T312A probably damaging Het
Adamts20 C T 15: 94,181,797 (GRCm39) C1632Y probably damaging Het
Ago2 T C 15: 72,991,310 (GRCm39) M543V probably benign Het
Alpk3 T C 7: 80,744,718 (GRCm39) L1271P probably damaging Het
Arpin T A 7: 79,581,553 (GRCm39) K56* probably null Het
Ccdc138 G T 10: 58,397,715 (GRCm39) probably benign Het
Ccdc63 A T 5: 122,260,948 (GRCm39) M192K probably benign Het
Cntnap5b T C 1: 100,306,851 (GRCm39) L485P probably damaging Het
Cpne7 A G 8: 123,851,208 (GRCm39) D165G probably damaging Het
Cyp2j6 A T 4: 96,417,645 (GRCm39) M326K probably damaging Het
D630003M21Rik T A 2: 158,042,931 (GRCm39) T870S probably damaging Het
Dennd2c A G 3: 103,039,317 (GRCm39) D155G probably benign Het
Dnah3 A T 7: 119,645,011 (GRCm39) probably null Het
Dqx1 T A 6: 83,036,068 (GRCm39) C133* probably null Het
Fam234b T A 6: 135,208,722 (GRCm39) V545E probably damaging Het
Flcn T C 11: 59,683,485 (GRCm39) H564R probably damaging Het
Gsdmc4 T A 15: 63,765,014 (GRCm39) H348L probably benign Het
Gucy2c G T 6: 136,740,072 (GRCm39) P252T probably damaging Het
Insl6 T A 19: 29,302,645 (GRCm39) E24V possibly damaging Het
Irx1 T A 13: 72,108,167 (GRCm39) T172S probably damaging Het
Mocos C T 18: 24,799,713 (GRCm39) probably benign Het
Myom2 T C 8: 15,158,835 (GRCm39) V837A probably benign Het
Nfatc2ip T C 7: 125,995,170 (GRCm39) N126S probably benign Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Npepl1 T C 2: 173,953,566 (GRCm39) S166P probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or7d11 G T 9: 19,966,384 (GRCm39) A125D probably damaging Het
Otop2 T G 11: 115,217,676 (GRCm39) C171G probably damaging Het
Parpbp C A 10: 87,968,950 (GRCm39) probably benign Het
Pcdhb20 T A 18: 37,637,563 (GRCm39) S30T probably benign Het
Phkg1 A T 5: 129,893,373 (GRCm39) V359E probably damaging Het
Ppp2cb A G 8: 34,101,855 (GRCm39) D131G probably null Het
Scn9a A G 2: 66,335,312 (GRCm39) Y1226H probably damaging Het
Unc5b A G 10: 60,613,979 (GRCm39) F290S probably benign Het
Vmn1r71 A G 7: 10,481,846 (GRCm39) F215L probably benign Het
Vmn2r101 T C 17: 19,810,045 (GRCm39) V277A probably benign Het
Vmn2r6 T C 3: 64,463,773 (GRCm39) S354G probably benign Het
Zfp292 A T 4: 34,811,281 (GRCm39) S588T probably damaging Het
Other mutations in Cldn12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03323:Cldn12 APN 5 5,558,421 (GRCm39) missense probably damaging 1.00
lame UTSW 5 5,558,385 (GRCm39) missense probably damaging 1.00
R1499:Cldn12 UTSW 5 5,557,900 (GRCm39) missense probably benign 0.28
R1971:Cldn12 UTSW 5 5,558,137 (GRCm39) missense probably benign 0.16
R4450:Cldn12 UTSW 5 5,558,398 (GRCm39) missense probably damaging 0.99
R4665:Cldn12 UTSW 5 5,558,385 (GRCm39) missense probably damaging 1.00
R4724:Cldn12 UTSW 5 5,558,385 (GRCm39) missense probably damaging 1.00
R4725:Cldn12 UTSW 5 5,558,385 (GRCm39) missense probably damaging 1.00
R4728:Cldn12 UTSW 5 5,558,385 (GRCm39) missense probably damaging 1.00
R6961:Cldn12 UTSW 5 5,557,707 (GRCm39) missense probably damaging 1.00
R7485:Cldn12 UTSW 5 5,558,008 (GRCm39) missense probably benign 0.06
R7857:Cldn12 UTSW 5 5,558,209 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCTGTGAGGCTACAAGACATCC -3'
(R):5'- TCAATAGTGCAGGCTGCCAC -3'

Sequencing Primer
(F):5'- GTGAGGCTACAAGACATCCTTTGAAC -3'
(R):5'- ACCTGGTGGCCGGACTC -3'
Posted On 2014-10-30