Incidental Mutation 'R1663:Cldn14'
ID 186965
Institutional Source Beutler Lab
Gene Symbol Cldn14
Ensembl Gene ENSMUSG00000047109
Gene Name claudin 14
Synonyms
MMRRC Submission 039699-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R1663 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 93715919-93809696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93716166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 227 (S227P)
Ref Sequence ENSEMBL: ENSMUSP00000136156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050962] [ENSMUST00000137163] [ENSMUST00000142083] [ENSMUST00000169391] [ENSMUST00000177648]
AlphaFold Q9Z0S3
Predicted Effect probably damaging
Transcript: ENSMUST00000050962
AA Change: S227P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062045
Gene: ENSMUSG00000047109
AA Change: S227P

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 181 3.3e-31 PFAM
low complexity region 199 217 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137163
Predicted Effect probably benign
Transcript: ENSMUST00000142083
Predicted Effect probably damaging
Transcript: ENSMUST00000169391
AA Change: S227P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126455
Gene: ENSMUSG00000047109
AA Change: S227P

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 181 3.3e-31 PFAM
Pfam:Claudin_2 15 183 1.1e-12 PFAM
low complexity region 199 217 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000177648
AA Change: S227P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136156
Gene: ENSMUSG00000047109
AA Change: S227P

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 181 3.3e-31 PFAM
Pfam:Claudin_2 15 183 1.1e-12 PFAM
low complexity region 199 217 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the claudin family of tight junction proteins. The encoded protein is an integral membrane protein that may function in maintaining apical membrane polarization in tight junctions located between outer hair cells and supporting cells. Loss of function of this gene is associated with hearing problems. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutant mice have a normal endocochlear potential but are deaf due to cochlear hair cell degeneration within the first 3 weeks of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T A 8: 25,177,949 (GRCm39) T11S probably benign Het
Adgb T C 10: 10,215,419 (GRCm39) M1529V possibly damaging Het
Ankrd36 T A 11: 5,570,126 (GRCm39) D531E possibly damaging Het
Ankzf1 C T 1: 75,172,914 (GRCm39) P337S probably damaging Het
Apc A G 18: 34,401,378 (GRCm39) I55V probably damaging Het
Aplnr A G 2: 84,967,038 (GRCm39) D21G possibly damaging Het
Apol10b A T 15: 77,472,914 (GRCm39) F47I probably damaging Het
Arhgef5 G A 6: 43,253,899 (GRCm39) A1131T probably damaging Het
Arrb2 A T 11: 70,328,429 (GRCm39) Q83L probably damaging Het
Atf7ip A G 6: 136,580,322 (GRCm39) Q1082R possibly damaging Het
Atl2 A G 17: 80,172,140 (GRCm39) S28P probably damaging Het
Brd7 T C 8: 89,084,651 (GRCm39) K89E possibly damaging Het
Cc2d1b A G 4: 108,480,744 (GRCm39) T55A probably damaging Het
Ccdc18 A G 5: 108,363,956 (GRCm39) E1217G probably damaging Het
Cdc42ep4 A T 11: 113,620,277 (GRCm39) M38K probably damaging Het
Clspn T A 4: 126,459,768 (GRCm39) C332S probably benign Het
Col5a1 T C 2: 27,841,488 (GRCm39) S370P unknown Het
Comp T C 8: 70,826,250 (GRCm39) L10P possibly damaging Het
Dcc A T 18: 71,959,123 (GRCm39) N216K probably damaging Het
Dcstamp C T 15: 39,618,340 (GRCm39) Q250* probably null Het
Drd5 T C 5: 38,478,198 (GRCm39) F397S probably benign Het
Dst T C 1: 34,202,466 (GRCm39) S265P probably damaging Het
Dync2i1 T C 12: 116,193,230 (GRCm39) Q574R probably benign Het
Enam A T 5: 88,651,853 (GRCm39) S1046C probably damaging Het
Eno3 T C 11: 70,553,100 (GRCm39) probably null Het
Fam13a G A 6: 58,931,357 (GRCm39) R408* probably null Het
Gipc2 T A 3: 151,799,801 (GRCm39) M310L probably benign Het
Gm14496 T C 2: 181,639,230 (GRCm39) V440A probably benign Het
Gzmg A T 14: 56,394,265 (GRCm39) C210S probably damaging Het
Helb G T 10: 119,941,338 (GRCm39) A450E probably damaging Het
Hepacam2 A T 6: 3,483,439 (GRCm39) I190N possibly damaging Het
Hk3 A T 13: 55,154,388 (GRCm39) S773T probably benign Het
Hnrnpc A G 14: 52,312,852 (GRCm39) S221P probably damaging Het
Ifna9 T C 4: 88,510,220 (GRCm39) T135A probably benign Het
Igfn1 C T 1: 135,896,046 (GRCm39) G1507R probably benign Het
Kank3 A G 17: 34,037,349 (GRCm39) T218A probably benign Het
Kcp G T 6: 29,498,964 (GRCm39) R337S possibly damaging Het
Krt74 A T 15: 101,665,109 (GRCm39) noncoding transcript Het
Lrp1 A T 10: 127,392,790 (GRCm39) D2758E probably damaging Het
Ly75 T C 2: 60,144,578 (GRCm39) E1295G probably damaging Het
Mccc1 C A 3: 36,033,082 (GRCm39) W354L probably damaging Het
Mmp1a C T 9: 7,465,657 (GRCm39) T198M probably benign Het
Mtmr2 C T 9: 13,714,797 (GRCm39) T519I probably damaging Het
Nbea A G 3: 55,553,407 (GRCm39) S2632P possibly damaging Het
Nbn T A 4: 15,970,903 (GRCm39) D295E probably benign Het
Ndufb8 T C 19: 44,538,820 (GRCm39) Y167C probably damaging Het
Nisch A G 14: 30,913,478 (GRCm39) probably benign Het
Notch3 C T 17: 32,375,093 (GRCm39) G407D probably damaging Het
Nucb1 A G 7: 45,148,288 (GRCm39) F175S probably damaging Het
Or1l8 T G 2: 36,817,346 (GRCm39) Y260S probably damaging Het
Or6c6c G A 10: 129,541,160 (GRCm39) V138M probably benign Het
Or7g12 T A 9: 18,900,006 (GRCm39) C241S probably damaging Het
Or8b44 T G 9: 38,410,868 (GRCm39) I301R unknown Het
Pip5k1c T C 10: 81,148,349 (GRCm39) V425A probably damaging Het
Pnisr T A 4: 21,873,857 (GRCm39) probably benign Het
Prkag1 A G 15: 98,713,776 (GRCm39) V18A probably damaging Het
Rad50 T C 11: 53,559,050 (GRCm39) N1063S probably benign Het
Rnf170 C T 8: 26,619,171 (GRCm39) H132Y probably damaging Het
Rnf213 A G 11: 119,328,498 (GRCm39) D1977G probably benign Het
Sema3a G A 5: 13,607,092 (GRCm39) probably null Het
Setx T A 2: 29,016,917 (GRCm39) C7S probably damaging Het
Slc23a2 A G 2: 131,907,384 (GRCm39) I417T probably damaging Het
Spink6 T G 18: 44,204,588 (GRCm39) F18C unknown Het
Sptbn1 T C 11: 30,070,783 (GRCm39) Q1538R possibly damaging Het
Strn3 A G 12: 51,699,609 (GRCm39) Y188H probably damaging Het
Tecpr1 C A 5: 144,134,762 (GRCm39) K1040N probably benign Het
Tll1 T A 8: 64,470,720 (GRCm39) Y901F probably benign Het
Tmem81 C T 1: 132,435,635 (GRCm39) A147V probably benign Het
Tnpo3 T C 6: 29,565,758 (GRCm39) D532G probably benign Het
Vmn2r19 T A 6: 123,313,411 (GRCm39) I827N probably benign Het
Wdr35 A G 12: 9,070,000 (GRCm39) K857R probably benign Het
Zfp110 A G 7: 12,582,569 (GRCm39) T406A probably benign Het
Zfp52 T C 17: 21,782,084 (GRCm39) L644P possibly damaging Het
Zfp605 G A 5: 110,275,451 (GRCm39) V190I probably benign Het
Zfp964 A G 8: 70,116,733 (GRCm39) probably null Het
Zmynd8 A G 2: 165,649,805 (GRCm39) S779P probably benign Het
Zswim5 T A 4: 116,844,092 (GRCm39) N1043K probably damaging Het
Other mutations in Cldn14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Cldn14 APN 16 93,716,189 (GRCm39) missense probably benign 0.32
IGL02510:Cldn14 APN 16 93,716,844 (GRCm39) start codon destroyed probably damaging 1.00
R2939:Cldn14 UTSW 16 93,716,192 (GRCm39) missense probably damaging 1.00
R3081:Cldn14 UTSW 16 93,716,192 (GRCm39) missense probably damaging 1.00
R4887:Cldn14 UTSW 16 93,716,747 (GRCm39) missense possibly damaging 0.93
R6278:Cldn14 UTSW 16 93,716,486 (GRCm39) missense possibly damaging 0.68
R7743:Cldn14 UTSW 16 93,716,615 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGACAAACCAACCCGATGGATG -3'
(R):5'- GCCCAGTGGCATGAAGTTTGAAATC -3'

Sequencing Primer
(F):5'- GCTTCCAAGACACTCTTTATTGAG -3'
(R):5'- CATGAAGTTTGAAATCGGCCAG -3'
Posted On 2014-05-09