Incidental Mutation 'IGL03187:Clrn1'
ID 412499
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clrn1
Ensembl Gene ENSMUSG00000043850
Gene Name clarin 1
Synonyms clarin-1, USH3, Ush3a, A130002D11Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03187
Quality Score
Status
Chromosome 3
Chromosomal Location 58751449-58792633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58753854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 169 (V169A)
Ref Sequence ENSEMBL: ENSMUSP00000052254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051408] [ENSMUST00000055636] [ENSMUST00000072551]
AlphaFold Q8K445
Predicted Effect probably damaging
Transcript: ENSMUST00000051408
AA Change: V151A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000051738
Gene: ENSMUSG00000043850
AA Change: V151A

DomainStartEndE-ValueType
Pfam:Claudin_2 18 208 1.8e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000055636
AA Change: V169A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052254
Gene: ENSMUSG00000043850
AA Change: V169A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
transmembrane domain 116 138 N/A INTRINSIC
transmembrane domain 153 175 N/A INTRINSIC
transmembrane domain 207 229 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000072551
AA Change: V91A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000072363
Gene: ENSMUSG00000043850
AA Change: V91A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
SCOP:d1hw7a_ 65 87 5e-3 SMART
transmembrane domain 129 151 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161419
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 protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit progressive hearing loss and loss of balance associated with defects in outer hair cells and supporting cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbx G A 16: 50,094,926 (GRCm39) T130I probably damaging Het
Cdkl2 A G 5: 92,165,239 (GRCm39) probably null Het
Erbb3 A G 10: 128,408,463 (GRCm39) probably benign Het
Gucy2g A C 19: 55,219,484 (GRCm39) I379M possibly damaging Het
Hps5 A T 7: 46,422,631 (GRCm39) L533Q probably damaging Het
Kansl1l T A 1: 66,765,062 (GRCm39) K749N probably damaging Het
Krt6b G T 15: 101,588,392 (GRCm39) F89L probably benign Het
Myh1 T C 11: 67,097,351 (GRCm39) F439L possibly damaging Het
Neb G A 2: 52,059,100 (GRCm39) H213Y probably damaging Het
Nhej1 A G 1: 75,007,420 (GRCm39) S111P possibly damaging Het
Or4k1 G T 14: 50,377,257 (GRCm39) P280T probably damaging Het
Pcdh15 G A 10: 74,191,706 (GRCm39) V601M probably damaging Het
Ripor3 A G 2: 167,827,588 (GRCm39) V621A possibly damaging Het
Smarca2 A G 19: 26,650,224 (GRCm39) N732S probably damaging Het
Stx18 G A 5: 38,284,327 (GRCm39) E170K possibly damaging Het
Syde1 A T 10: 78,424,943 (GRCm39) I356N possibly damaging Het
Tex2 C T 11: 106,458,903 (GRCm39) probably benign Het
Vmn2r50 T G 7: 9,771,368 (GRCm39) T778P probably damaging Het
Zfp709 T G 8: 72,643,126 (GRCm39) I184S probably benign Het
Other mutations in Clrn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Clrn1 APN 3 58,792,446 (GRCm39) missense probably damaging 0.99
IGL03184:Clrn1 APN 3 58,753,645 (GRCm39) missense probably benign 0.00
R0015:Clrn1 UTSW 3 58,753,848 (GRCm39) missense probably damaging 0.99
R0015:Clrn1 UTSW 3 58,753,848 (GRCm39) missense probably damaging 0.99
R1055:Clrn1 UTSW 3 58,772,531 (GRCm39) missense probably benign 0.38
R2301:Clrn1 UTSW 3 58,753,773 (GRCm39) missense probably damaging 1.00
R4753:Clrn1 UTSW 3 58,792,318 (GRCm39) missense probably damaging 1.00
R5493:Clrn1 UTSW 3 58,753,837 (GRCm39) missense probably damaging 1.00
R5916:Clrn1 UTSW 3 58,753,783 (GRCm39) missense probably benign 0.13
R6393:Clrn1 UTSW 3 58,753,741 (GRCm39) missense probably damaging 1.00
R6719:Clrn1 UTSW 3 58,753,861 (GRCm39) missense probably damaging 0.99
R7722:Clrn1 UTSW 3 58,753,755 (GRCm39) missense possibly damaging 0.52
R8824:Clrn1 UTSW 3 58,792,314 (GRCm39) missense probably benign 0.12
R9342:Clrn1 UTSW 3 58,792,251 (GRCm39) missense probably benign 0.01
R9681:Clrn1 UTSW 3 58,792,251 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02