Incidental Mutation 'R6016:Cltb'
ID 478608
Institutional Source Beutler Lab
Gene Symbol Cltb
Ensembl Gene ENSMUSG00000047547
Gene Name clathrin light chain B
Synonyms 2310046E19Rik
MMRRC Submission 043255-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R6016 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 54740214-54759157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54754480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 71 (T71A)
Ref Sequence ENSEMBL: ENSMUSP00000089198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049575] [ENSMUST00000091609]
AlphaFold Q6IRU5
Predicted Effect possibly damaging
Transcript: ENSMUST00000049575
AA Change: T71A

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000053371
Gene: ENSMUSG00000047547
AA Change: T71A

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 1 228 2.9e-54 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000091609
AA Change: T71A

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000089198
Gene: ENSMUSG00000047547
AA Change: T71A

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 1 210 8.7e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146301
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol9b T C 15: 77,620,058 (GRCm39) S285P probably damaging Het
Casz1 C A 4: 149,019,041 (GRCm39) N447K probably damaging Het
Dcaf12 A G 4: 41,313,267 (GRCm39) F93L probably damaging Het
Dnah5 T C 15: 28,328,030 (GRCm39) Y2135H probably damaging Het
Entpd2 C T 2: 25,288,568 (GRCm39) R191W probably damaging Het
Gm17067 G T 7: 42,357,654 (GRCm39) P283T probably benign Het
Gm3250 A G 10: 77,618,367 (GRCm39) probably benign Het
Gne T C 4: 44,039,063 (GRCm39) E532G probably damaging Het
Gsdmc3 T G 15: 63,740,261 (GRCm39) D86A probably benign Het
Hs3st2 A G 7: 121,099,922 (GRCm39) H256R probably damaging Het
Il19 T A 1: 130,863,718 (GRCm39) D16V probably damaging Het
Lats2 A T 14: 57,971,632 (GRCm39) N14K probably damaging Het
Mill2 G T 7: 18,590,373 (GRCm39) S151I probably benign Het
Ncapg2 G A 12: 116,390,227 (GRCm39) R392H probably damaging Het
Nop56 T C 2: 130,118,545 (GRCm39) probably null Het
Or14j8 A T 17: 38,262,967 (GRCm39) V316D probably benign Het
Or2bd2 A T 7: 6,443,613 (GRCm39) H238L probably benign Het
Or5p5 A T 7: 107,414,219 (GRCm39) I143F probably benign Het
Pde1a T C 2: 79,695,406 (GRCm39) R446G probably benign Het
Pes1 T A 11: 3,928,004 (GRCm39) M552K possibly damaging Het
Plxnb2 T A 15: 89,045,225 (GRCm39) T1074S possibly damaging Het
Psg23 G T 7: 18,346,112 (GRCm39) H194Q probably benign Het
Rprd2 A G 3: 95,694,685 (GRCm39) V116A probably damaging Het
Shkbp1 A G 7: 27,053,826 (GRCm39) V124A possibly damaging Het
Slc38a8 A T 8: 120,221,044 (GRCm39) probably null Het
Slitrk6 A G 14: 110,987,958 (GRCm39) V583A probably benign Het
Sptbn5 G T 2: 119,880,573 (GRCm39) noncoding transcript Het
Stab1 A T 14: 30,880,950 (GRCm39) I614N probably damaging Het
Tgm6 A G 2: 129,983,148 (GRCm39) T246A probably damaging Het
Tnks1bp1 T C 2: 84,882,734 (GRCm39) L187P probably damaging Het
Vmn1r157 A G 7: 22,461,272 (GRCm39) R51G possibly damaging Het
Vmn2r68 A T 7: 84,871,453 (GRCm39) I610K probably damaging Het
Other mutations in Cltb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03191:Cltb APN 13 54,746,883 (GRCm39) missense probably damaging 1.00
R2240:Cltb UTSW 13 54,746,967 (GRCm39) missense possibly damaging 0.82
R2307:Cltb UTSW 13 54,746,564 (GRCm39) missense probably damaging 0.99
R4573:Cltb UTSW 13 54,746,574 (GRCm39) missense probably damaging 1.00
R4574:Cltb UTSW 13 54,746,574 (GRCm39) missense probably damaging 1.00
R4855:Cltb UTSW 13 54,746,908 (GRCm39) missense probably damaging 1.00
R5187:Cltb UTSW 13 54,741,693 (GRCm39) missense probably benign 0.05
R8138:Cltb UTSW 13 54,746,596 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TGAAGACAACCTGAGCGAC -3'
(R):5'- TTAGGGATGACAGTGAATGCAC -3'

Sequencing Primer
(F):5'- ACCTGAGCGACTCCTCAGTC -3'
(R):5'- AACAATCAGGGCCTGAGC -3'
Posted On 2017-06-26