Incidental Mutation 'R2307:Cltb'
ID 244649
Institutional Source Beutler Lab
Gene Symbol Cltb
Ensembl Gene ENSMUSG00000047547
Gene Name clathrin light chain B
Synonyms 2310046E19Rik
MMRRC Submission 040306-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R2307 (G1)
Quality Score 215
Status Not validated
Chromosome 13
Chromosomal Location 54740214-54759157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 54746564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 67 (E67D)
Ref Sequence ENSEMBL: ENSMUSP00000122336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049575] [ENSMUST00000091609] [ENSMUST00000140142]
AlphaFold Q6IRU5
Predicted Effect probably damaging
Transcript: ENSMUST00000049575
AA Change: E145D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000053371
Gene: ENSMUSG00000047547
AA Change: E145D

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 1 228 2.9e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000091609
AA Change: E145D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000089198
Gene: ENSMUSG00000047547
AA Change: E145D

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 1 210 8.7e-70 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000140142
AA Change: E67D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122336
Gene: ENSMUSG00000047547
AA Change: E67D

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 1 95 2.1e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146301
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.9%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 T C 12: 84,122,375 (GRCm39) F320L possibly damaging Het
Alox12e T C 11: 70,212,087 (GRCm39) K170R probably damaging Het
Ano2 T C 6: 125,969,849 (GRCm39) S722P probably benign Het
Cep192 A G 18: 67,946,970 (GRCm39) Y215C probably benign Het
Ces2g A G 8: 105,695,044 (GRCm39) N555S probably benign Het
Cfap58 C T 19: 47,950,925 (GRCm39) Q429* probably null Het
Clcnkb A G 4: 141,139,640 (GRCm39) S121P probably damaging Het
Ddhd1 A T 14: 45,846,447 (GRCm39) L581Q probably damaging Het
Dnajc3 T C 14: 119,190,633 (GRCm39) probably null Het
Fgf14 T A 14: 124,221,234 (GRCm39) N190I probably damaging Het
Galnt17 T G 5: 130,929,460 (GRCm39) Y449S probably damaging Het
Grin3a C T 4: 49,793,033 (GRCm39) probably null Het
Gxylt2 A G 6: 100,764,173 (GRCm39) N286S probably damaging Het
H2-K2 A G 17: 34,216,113 (GRCm39) V120A probably benign Het
Inpp5f T C 7: 128,296,034 (GRCm39) V168A probably damaging Het
Kif1a G T 1: 93,006,491 (GRCm39) H59N probably damaging Het
Krt24 T C 11: 99,175,456 (GRCm39) Q193R possibly damaging Het
Krtap5-4 C A 7: 141,857,351 (GRCm39) S7* probably null Het
Ltn1 A G 16: 87,229,312 (GRCm39) probably null Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Mep1b A T 18: 21,221,632 (GRCm39) D194V probably damaging Het
Mettl25b A T 3: 87,834,162 (GRCm39) M171K possibly damaging Het
Orc3 C T 4: 34,586,503 (GRCm39) V382M probably damaging Het
Pclo T A 5: 14,728,665 (GRCm39) probably benign Het
Pcolce T C 5: 137,607,356 (GRCm39) H45R probably damaging Het
Prf1 T C 10: 61,138,942 (GRCm39) V300A possibly damaging Het
Prorp T C 12: 55,351,101 (GRCm39) F137L probably damaging Het
Prss53 T C 7: 127,490,037 (GRCm39) I18V probably benign Het
Rnase2b A G 14: 51,400,188 (GRCm39) T90A probably benign Het
Rpap1 G A 2: 119,614,247 (GRCm39) P50L probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sec16b G A 1: 157,363,062 (GRCm39) V298I probably damaging Het
Smarcd3 C T 5: 24,800,746 (GRCm39) R156Q probably damaging Het
St6galnac2 C T 11: 116,572,731 (GRCm39) A242T probably damaging Het
Syce1l T C 8: 114,369,937 (GRCm39) probably null Het
Tcam1 T C 11: 106,174,940 (GRCm39) C132R probably damaging Het
Trpa1 T C 1: 14,982,605 (GRCm39) I84V probably benign Het
Ttn G A 2: 76,717,342 (GRCm39) R455* probably null Het
Ubl5 T A 9: 20,557,876 (GRCm39) probably benign Het
Ubr2 T A 17: 47,277,141 (GRCm39) K779* probably null Het
Ugt1a10 A G 1: 87,983,669 (GRCm39) I156V probably benign Het
Unc13b A G 4: 43,239,854 (GRCm39) T3513A probably damaging Het
Vmn1r20 C T 6: 57,409,121 (GRCm39) T149I probably benign Het
Zfp804a T A 2: 82,087,201 (GRCm39) D343E probably benign 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
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
R6016:Cltb UTSW 13 54,754,480 (GRCm39) missense possibly damaging 0.55
R8138:Cltb UTSW 13 54,746,596 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TCCATTCAAAGCCATTTCCCAG -3'
(R):5'- CCTTGGAACCTTGGCTATCC -3'

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