Incidental Mutation 'R6278:Cldn14'
ID 507799
Institutional Source Beutler Lab
Gene Symbol Cldn14
Ensembl Gene ENSMUSG00000047109
Gene Name claudin 14
Synonyms
MMRRC Submission 044448-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6278 (G1)
Quality Score 149.008
Status Validated
Chromosome 16
Chromosomal Location 93715919-93809696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 93716486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 120 (L120R)
Ref Sequence ENSEMBL: ENSMUSP00000136156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050962] [ENSMUST00000137163] [ENSMUST00000142083] [ENSMUST00000169391] [ENSMUST00000177648]
AlphaFold Q9Z0S3
Predicted Effect possibly damaging
Transcript: ENSMUST00000050962
AA Change: L120R

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000062045
Gene: ENSMUSG00000047109
AA Change: L120R

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 possibly damaging
Transcript: ENSMUST00000169391
AA Change: L120R

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126455
Gene: ENSMUSG00000047109
AA Change: L120R

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 possibly damaging
Transcript: ENSMUST00000177648
AA Change: L120R

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000136156
Gene: ENSMUSG00000047109
AA Change: L120R

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
Meta Mutation Damage Score 0.3535 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.6%
Validation Efficiency 100% (49/49)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 T C 7: 119,373,072 (GRCm39) S192P probably damaging Het
Amy1 T A 3: 113,355,339 (GRCm39) Y348F probably damaging Het
Brpf3 C A 17: 29,040,258 (GRCm39) P893H probably benign Het
Cage1 T C 13: 38,200,395 (GRCm39) T702A possibly damaging Het
Cdk11b A G 4: 155,734,060 (GRCm39) probably benign Het
Cdk5rap3 T C 11: 96,802,729 (GRCm39) Y207C probably damaging Het
Cenpc1 T C 5: 86,183,394 (GRCm39) K465R probably damaging Het
Cyp2c69 A T 19: 39,831,507 (GRCm39) C435* probably null Het
Dmxl2 T A 9: 54,323,046 (GRCm39) E1446V probably damaging Het
Dnah17 T A 11: 118,017,116 (GRCm39) D208V probably damaging Het
Eif4g3 G T 4: 137,915,394 (GRCm39) G1430V possibly damaging Het
Eif5 T A 12: 111,509,227 (GRCm39) D284E probably benign Het
Fam47e T C 5: 92,710,376 (GRCm39) L125P probably damaging Het
Far1 A G 7: 113,167,344 (GRCm39) I476M probably benign Het
Fsip2 A T 2: 82,819,242 (GRCm39) I4992L probably benign Het
Gli3 T A 13: 15,899,698 (GRCm39) N1028K possibly damaging Het
Gucy1a1 T C 3: 82,004,941 (GRCm39) K615E probably damaging Het
Gykl1 G T 18: 52,828,280 (GRCm39) S496I probably benign Het
Hmcn1 C T 1: 150,573,170 (GRCm39) probably null Het
Itga2 T A 13: 114,982,424 (GRCm39) H1027L probably benign Het
Kif24 A T 4: 41,423,498 (GRCm39) V251E probably damaging Het
Nupr1 T C 7: 126,224,518 (GRCm39) Y30C probably damaging Het
Or5b119 T A 19: 13,457,119 (GRCm39) M148L probably benign Het
Or5g29 A G 2: 85,421,342 (GRCm39) I153V probably benign Het
Or5w14 A T 2: 87,541,815 (GRCm39) L145* probably null Het
Or8g26 T A 9: 39,095,594 (GRCm39) I40N probably damaging Het
P2ry1 T A 3: 60,911,215 (GRCm39) I118N possibly damaging Het
Pcdh1 C T 18: 38,332,263 (GRCm39) V247M probably benign Het
Pdia5 A G 16: 35,250,293 (GRCm39) V222A possibly damaging Het
Plce1 G A 19: 38,713,495 (GRCm39) probably null Het
Ppm1m T C 9: 106,074,427 (GRCm39) R239G probably damaging Het
Pramel30 C T 4: 144,056,837 (GRCm39) P7S probably damaging Het
Prkcz A T 4: 155,352,652 (GRCm39) F492I probably damaging Het
Rpl6 T C 5: 121,346,912 (GRCm39) I269T possibly damaging Het
Scoc T C 8: 84,184,965 (GRCm39) S2G unknown Het
Spesp1 A T 9: 62,179,921 (GRCm39) M329K probably benign Het
Ston2 T C 12: 91,615,104 (GRCm39) K435E probably damaging Het
Synj2 A T 17: 6,026,149 (GRCm39) L69F probably damaging Het
Tigd5 T C 15: 75,781,842 (GRCm39) I68T probably damaging Het
Tmcc2 A T 1: 132,286,720 (GRCm39) M577K probably damaging Het
Tmem131l A T 3: 83,849,798 (GRCm39) I263N possibly damaging Het
Trip13 T C 13: 74,061,439 (GRCm39) E408G probably benign Het
Txnl4b T C 8: 110,295,735 (GRCm39) probably null Het
Ube2o T C 11: 116,430,369 (GRCm39) E1123G probably damaging Het
Vmn1r123 A G 7: 20,896,774 (GRCm39) H222R possibly damaging Het
Vmn2r73 G T 7: 85,522,140 (GRCm39) H66Q probably benign Het
Zc3h13 T A 14: 75,567,863 (GRCm39) V1052D probably benign 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
R1663:Cldn14 UTSW 16 93,716,166 (GRCm39) missense 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
R7743:Cldn14 UTSW 16 93,716,615 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTGGCAGGATAAGCAGAG -3'
(R):5'- ATCCTACCTGAAGGGACTGTGG -3'

Sequencing Primer
(F):5'- TAAGCAGAGCAGGGTGCCC -3'
(R):5'- GGCATCTACCAGTGTCAGATC -3'
Posted On 2018-03-15