Incidental Mutation 'R3031:Cltc'
ID 264732
Institutional Source Beutler Lab
Gene Symbol Cltc
Ensembl Gene ENSMUSG00000047126
Gene Name clathrin heavy chain
Synonyms CHC
MMRRC Submission 040547-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R3031 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 86585177-86648391 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86621158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 287 (H287R)
Ref Sequence ENSEMBL: ENSMUSP00000050220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060766] [ENSMUST00000103186]
AlphaFold Q68FD5
Predicted Effect probably damaging
Transcript: ENSMUST00000060766
AA Change: H287R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050220
Gene: ENSMUSG00000047126
AA Change: H287R

DomainStartEndE-ValueType
Pfam:Clathrin_propel 19 56 5.3e-10 PFAM
Pfam:Clathrin_propel 152 191 1.5e-11 PFAM
Pfam:Clathrin_propel 202 238 1.2e-11 PFAM
Pfam:Clathrin_propel 257 292 2.2e-8 PFAM
Pfam:Clathrin_propel 300 334 8.6e-10 PFAM
Pfam:Clathrin-link 335 358 1.7e-17 PFAM
Pfam:Clathrin_H_link 360 425 7.1e-35 PFAM
low complexity region 449 462 N/A INTRINSIC
CLH 541 683 1.65e-41 SMART
CLH 690 832 1.24e-45 SMART
CLH 837 976 6.68e-42 SMART
CLH 983 1128 7.21e-47 SMART
CLH 1132 1273 7.91e-44 SMART
CLH 1278 1424 1.59e-48 SMART
CLH 1427 1586 8.36e-43 SMART
low complexity region 1666 1677 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000103186
AA Change: H283R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099475
Gene: ENSMUSG00000047126
AA Change: H283R

DomainStartEndE-ValueType
Pfam:Clathrin_propel 19 56 2e-7 PFAM
Pfam:Clathrin_propel 148 187 3.8e-9 PFAM
Pfam:Clathrin_propel 198 234 3.8e-9 PFAM
Pfam:Clathrin-link 331 354 3.5e-17 PFAM
Pfam:Clathrin_H_link 356 421 1.9e-35 PFAM
low complexity region 445 458 N/A INTRINSIC
CLH 537 679 1.65e-41 SMART
CLH 686 828 1.24e-45 SMART
CLH 833 972 6.68e-42 SMART
CLH 979 1124 7.21e-47 SMART
CLH 1128 1269 7.91e-44 SMART
CLH 1274 1420 1.59e-48 SMART
CLH 1423 1582 8.36e-43 SMART
low complexity region 1662 1673 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141152
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 C A 16: 20,193,863 (GRCm39) V753L probably damaging Het
Ap3b1 T C 13: 94,702,151 (GRCm39) L1068P unknown Het
Cacna1h C A 17: 25,652,108 (GRCm39) R12L probably damaging Het
Cbln4 A G 2: 171,884,100 (GRCm39) V40A probably damaging Het
Ccdc170 T C 10: 4,468,931 (GRCm39) S160P probably damaging Het
Cdc37 T C 9: 21,054,487 (GRCm39) E46G possibly damaging Het
Dsg1a A T 18: 20,473,549 (GRCm39) D874V probably damaging Het
Gjd4 G T 18: 9,280,811 (GRCm39) S89* probably null Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Hydin A G 8: 111,329,848 (GRCm39) R4861G possibly damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lipe T C 7: 25,084,320 (GRCm39) E588G possibly damaging Het
Mael T C 1: 166,032,375 (GRCm39) D328G probably damaging Het
Mboat7 A G 7: 3,681,687 (GRCm39) V398A probably benign Het
Slc35e1 A G 8: 73,238,735 (GRCm39) W258R probably benign Het
Slc9a8 A G 2: 167,293,201 (GRCm39) D183G probably damaging Het
Sorcs1 G A 19: 50,213,613 (GRCm39) R705C probably damaging Het
Sult3a1 G A 10: 33,753,345 (GRCm39) D214N possibly damaging Het
Traf3ip1 T C 1: 91,447,822 (GRCm39) V433A probably damaging Het
Ubxn7 T A 16: 32,194,125 (GRCm39) D232E probably benign Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Vps13c T C 9: 67,831,052 (GRCm39) S1561P probably benign Het
Wdr48 T C 9: 119,753,176 (GRCm39) V593A probably benign Het
Zfp58 A G 13: 67,640,231 (GRCm39) F87L probably benign Het
Zfp663 A T 2: 165,195,616 (GRCm39) L201* probably null Het
Other mutations in Cltc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01457:Cltc APN 11 86,593,074 (GRCm39) missense probably benign 0.43
IGL01503:Cltc APN 11 86,586,526 (GRCm39) splice site probably benign
IGL01649:Cltc APN 11 86,617,226 (GRCm39) missense probably benign 0.16
IGL01896:Cltc APN 11 86,615,959 (GRCm39) missense probably damaging 1.00
IGL02005:Cltc APN 11 86,621,045 (GRCm39) missense possibly damaging 0.86
IGL02125:Cltc APN 11 86,595,636 (GRCm39) unclassified probably benign
IGL02166:Cltc APN 11 86,594,914 (GRCm39) missense probably benign 0.00
IGL02186:Cltc APN 11 86,595,812 (GRCm39) missense possibly damaging 0.55
IGL02186:Cltc APN 11 86,595,811 (GRCm39) missense possibly damaging 0.55
IGL02214:Cltc APN 11 86,623,412 (GRCm39) missense probably benign 0.08
IGL02227:Cltc APN 11 86,588,166 (GRCm39) missense possibly damaging 0.85
IGL02471:Cltc APN 11 86,608,860 (GRCm39) missense probably damaging 1.00
IGL02607:Cltc APN 11 86,597,540 (GRCm39) missense probably benign 0.00
IGL02888:Cltc APN 11 86,648,123 (GRCm39) utr 5 prime probably benign
IGL03226:Cltc APN 11 86,611,113 (GRCm39) missense probably damaging 1.00
IGL03337:Cltc APN 11 86,594,509 (GRCm39) missense possibly damaging 0.95
Buckey UTSW 11 86,611,188 (GRCm39) missense probably benign 0.01
fuller UTSW 11 86,594,986 (GRCm39) missense possibly damaging 0.79
Geodesic UTSW 11 86,624,456 (GRCm39) missense probably damaging 0.97
R0468:Cltc UTSW 11 86,595,452 (GRCm39) unclassified probably benign
R0487:Cltc UTSW 11 86,624,490 (GRCm39) missense probably damaging 1.00
R0515:Cltc UTSW 11 86,599,865 (GRCm39) missense probably benign 0.25
R0631:Cltc UTSW 11 86,603,439 (GRCm39) missense probably benign 0.03
R0759:Cltc UTSW 11 86,627,908 (GRCm39) missense probably null 0.91
R1635:Cltc UTSW 11 86,648,105 (GRCm39) missense probably benign 0.00
R1671:Cltc UTSW 11 86,623,421 (GRCm39) missense possibly damaging 0.88
R1695:Cltc UTSW 11 86,591,886 (GRCm39) critical splice donor site probably null
R1737:Cltc UTSW 11 86,624,553 (GRCm39) missense probably damaging 1.00
R1747:Cltc UTSW 11 86,597,907 (GRCm39) missense probably damaging 1.00
R1880:Cltc UTSW 11 86,603,457 (GRCm39) missense probably damaging 1.00
R2291:Cltc UTSW 11 86,624,448 (GRCm39) missense probably benign 0.35
R4012:Cltc UTSW 11 86,648,087 (GRCm39) missense probably benign 0.12
R4022:Cltc UTSW 11 86,611,174 (GRCm39) missense probably damaging 0.96
R4394:Cltc UTSW 11 86,624,456 (GRCm39) missense probably damaging 0.97
R4654:Cltc UTSW 11 86,617,196 (GRCm39) missense probably benign 0.10
R4807:Cltc UTSW 11 86,591,902 (GRCm39) intron probably benign
R4837:Cltc UTSW 11 86,586,474 (GRCm39) missense probably benign 0.00
R4965:Cltc UTSW 11 86,598,327 (GRCm39) missense probably damaging 0.99
R5072:Cltc UTSW 11 86,608,794 (GRCm39) missense possibly damaging 0.86
R5113:Cltc UTSW 11 86,613,147 (GRCm39) missense probably damaging 0.98
R5126:Cltc UTSW 11 86,603,495 (GRCm39) missense probably damaging 1.00
R5177:Cltc UTSW 11 86,595,989 (GRCm39) missense probably damaging 1.00
R5609:Cltc UTSW 11 86,621,093 (GRCm39) missense probably damaging 0.99
R5610:Cltc UTSW 11 86,612,472 (GRCm39) missense probably benign 0.00
R5677:Cltc UTSW 11 86,596,068 (GRCm39) missense probably damaging 1.00
R5999:Cltc UTSW 11 86,594,955 (GRCm39) missense possibly damaging 0.93
R6197:Cltc UTSW 11 86,611,188 (GRCm39) missense probably benign 0.01
R6198:Cltc UTSW 11 86,611,188 (GRCm39) missense probably benign 0.01
R6264:Cltc UTSW 11 86,596,084 (GRCm39) missense probably damaging 1.00
R6395:Cltc UTSW 11 86,616,006 (GRCm39) missense probably damaging 0.97
R6818:Cltc UTSW 11 86,595,054 (GRCm39) missense possibly damaging 0.86
R6894:Cltc UTSW 11 86,603,428 (GRCm39) nonsense probably null
R7196:Cltc UTSW 11 86,597,657 (GRCm39) missense probably damaging 1.00
R7438:Cltc UTSW 11 86,616,054 (GRCm39) missense probably benign 0.01
R7621:Cltc UTSW 11 86,598,312 (GRCm39) missense probably benign 0.03
R7637:Cltc UTSW 11 86,621,158 (GRCm39) missense probably damaging 1.00
R7729:Cltc UTSW 11 86,612,474 (GRCm39) missense probably benign
R7769:Cltc UTSW 11 86,610,319 (GRCm39) missense probably damaging 1.00
R7817:Cltc UTSW 11 86,615,949 (GRCm39) missense probably damaging 1.00
R7944:Cltc UTSW 11 86,627,967 (GRCm39) missense probably benign 0.01
R7945:Cltc UTSW 11 86,627,967 (GRCm39) missense probably benign 0.01
R8040:Cltc UTSW 11 86,616,031 (GRCm39) missense probably damaging 1.00
R8105:Cltc UTSW 11 86,598,438 (GRCm39) missense probably damaging 0.98
R8203:Cltc UTSW 11 86,594,986 (GRCm39) missense possibly damaging 0.79
R8297:Cltc UTSW 11 86,603,457 (GRCm39) missense probably damaging 1.00
R8304:Cltc UTSW 11 86,616,087 (GRCm39) missense probably benign 0.01
R8419:Cltc UTSW 11 86,598,392 (GRCm39) missense probably benign 0.01
R8673:Cltc UTSW 11 86,648,201 (GRCm39) start gained probably benign
R8940:Cltc UTSW 11 86,621,072 (GRCm39) missense probably benign 0.30
R8958:Cltc UTSW 11 86,586,403 (GRCm39) missense possibly damaging 0.86
R9182:Cltc UTSW 11 86,595,982 (GRCm39) missense probably damaging 1.00
R9188:Cltc UTSW 11 86,627,992 (GRCm39) missense probably damaging 0.98
R9293:Cltc UTSW 11 86,603,446 (GRCm39) missense possibly damaging 0.47
R9456:Cltc UTSW 11 86,593,237 (GRCm39) missense probably benign 0.38
R9559:Cltc UTSW 11 86,613,086 (GRCm39) missense probably damaging 1.00
R9576:Cltc UTSW 11 86,593,237 (GRCm39) missense probably benign 0.38
R9578:Cltc UTSW 11 86,593,237 (GRCm39) missense probably benign 0.38
Z1176:Cltc UTSW 11 86,593,458 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- CTTTGCCATCTACCATTAAGAACTC -3'
(R):5'- TTGCTTGAGCTATCCTGCATTTAG -3'

Sequencing Primer
(F):5'- GCCATCTACCATTAAGAACTCTTTTC -3'
(R):5'- GAGCTATCCTGCATTTAGACAAGC -3'
Posted On 2015-02-05