Incidental Mutation 'R8138:Cltb'
ID 632370
Institutional Source Beutler Lab
Gene Symbol Cltb
Ensembl Gene ENSMUSG00000047547
Gene Name clathrin light chain B
Synonyms 2310046E19Rik
MMRRC Submission 067566-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R8138 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 54740214-54759157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54746596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 135 (D135N)
Ref Sequence ENSEMBL: ENSMUSP00000053371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049575] [ENSMUST00000091609] [ENSMUST00000140142]
AlphaFold Q6IRU5
Predicted Effect possibly damaging
Transcript: ENSMUST00000049575
AA Change: D135N

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000053371
Gene: ENSMUSG00000047547
AA Change: D135N

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 1 228 2.9e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000091609
AA Change: D135N

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000089198
Gene: ENSMUSG00000047547
AA Change: D135N

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 1 210 8.7e-70 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000140142
AA Change: D57N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122336
Gene: ENSMUSG00000047547
AA Change: D57N

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 1 95 2.1e-26 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.9%
  • 20x: 96.5%
Validation Efficiency 98% (52/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A G 16: 8,418,829 (GRCm39) D141G probably benign Het
Abcc1 A G 16: 14,290,751 (GRCm39) T1454A probably damaging Het
Acan C A 7: 78,748,175 (GRCm39) T982N probably benign Het
Adam5 A G 8: 25,271,778 (GRCm39) L543P probably damaging Het
Akap13 T A 7: 75,351,979 (GRCm39) probably null Het
Akirin1 G A 4: 123,637,238 (GRCm39) P116S probably benign Het
Bzw2 T C 12: 36,159,819 (GRCm39) D236G probably benign Het
C1qtnf2 G A 11: 43,376,838 (GRCm39) G70D probably damaging Het
Cd44 A G 2: 102,662,842 (GRCm39) I566T probably benign Het
Cpeb2 T C 5: 43,392,352 (GRCm39) V516A Het
Cx3cr1 A T 9: 119,880,649 (GRCm39) M251K possibly damaging Het
Ect2l A T 10: 18,045,153 (GRCm39) S301T probably damaging Het
Fgd6 A G 10: 93,970,005 (GRCm39) K1218R probably null Het
Fsip2 T C 2: 82,806,141 (GRCm39) V820A possibly damaging Het
Gnas A G 2: 174,140,179 (GRCm39) E116G probably benign Het
Greb1l T C 18: 10,533,060 (GRCm39) Y985H probably benign Het
Gtpbp3 T C 8: 71,945,242 (GRCm39) L438P probably damaging Het
Habp4 A G 13: 64,323,884 (GRCm39) D269G possibly damaging Het
Igf2r A T 17: 12,920,125 (GRCm39) S1405T probably benign Het
Il17rc A G 6: 113,459,500 (GRCm39) D482G probably damaging Het
Kmt2d A G 15: 98,741,534 (GRCm39) I4542T unknown Het
Lag3 A G 6: 124,882,455 (GRCm39) V347A probably damaging Het
Lmtk2 C T 5: 144,112,415 (GRCm39) S1045L probably damaging Het
Mblac2 A G 13: 81,859,769 (GRCm39) D41G probably damaging Het
Mfsd6 C T 1: 52,748,671 (GRCm39) V65I probably benign Het
Neb A G 2: 52,065,707 (GRCm39) V6175A possibly damaging Het
Nin A G 12: 70,089,672 (GRCm39) S1248P Het
Nlrp4b A T 7: 10,449,458 (GRCm39) M554L probably benign Het
Or51ab3 T A 7: 103,201,266 (GRCm39) H91Q probably benign Het
Or5an11 G A 19: 12,246,436 (GRCm39) V281M possibly damaging Het
Or5p59 A T 7: 107,702,764 (GRCm39) S83C possibly damaging Het
Or8k53 T C 2: 86,177,930 (GRCm39) Y60C possibly damaging Het
Pik3r4 C A 9: 105,546,234 (GRCm39) S861R possibly damaging Het
Ppp1r16a T C 15: 76,575,921 (GRCm39) V95A probably damaging Het
Prss40 T C 1: 34,597,080 (GRCm39) Q156R probably damaging Het
Rhbdd3 CACCATGGCTGCTACCATGGCTGCT CACCATGGCTGCT 11: 5,054,303 (GRCm39) probably benign Het
Rnf170 T C 8: 26,616,009 (GRCm39) probably null Het
Smlr1 A G 10: 25,411,939 (GRCm39) V16A probably benign Het
Sowahb A G 5: 93,191,342 (GRCm39) L459P probably benign Het
Srebf2 C T 15: 82,062,966 (GRCm39) R468C probably damaging Het
Tpo T C 12: 30,124,103 (GRCm39) D899G probably benign Het
Traj7 C T 14: 54,448,982 (GRCm39) P19S Het
Trit1 G A 4: 122,937,582 (GRCm39) W131* probably null Het
Vcpip1 GGGAGGCGGCGGCGGCGGCAGCGGAGGAGGCGGCGGCGGC GGGAGGAGGCGGCGGCGGC 1: 9,818,334 (GRCm39) probably benign Het
Vmn1r4 A G 6: 56,934,391 (GRCm39) *298W probably null Het
Vmn2r124 T A 17: 18,283,610 (GRCm39) W435R probably damaging Het
Zbtb41 C T 1: 139,369,545 (GRCm39) R641C probably damaging Het
Zfp84 T A 7: 29,474,797 (GRCm39) F23Y probably damaging Het
Zfp879 G T 11: 50,724,275 (GRCm39) Y260* probably null Het
Zswim9 A T 7: 12,995,337 (GRCm39) F273Y 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
R6016:Cltb UTSW 13 54,754,480 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- TCCATTCAAAGCCATTTCCCAG -3'
(R):5'- GCCTTGGAACCTTGGCTATC -3'

Sequencing Primer
(F):5'- ACCCATCGCCCCCATGG -3'
(R):5'- TATCCAAGGCAGGTCCACGTG -3'
Posted On 2020-06-30