Incidental Mutation 'R2291:Cltc'
ID 244370
Institutional Source Beutler Lab
Gene Symbol Cltc
Ensembl Gene ENSMUSG00000047126
Gene Name clathrin heavy chain
Synonyms CHC
MMRRC Submission 040290-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R2291 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 86585177-86648391 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86624448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 158 (T158I)
Ref Sequence ENSEMBL: ENSMUSP00000099475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060766] [ENSMUST00000103186]
AlphaFold Q68FD5
Predicted Effect probably benign
Transcript: ENSMUST00000060766
AA Change: T162I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000050220
Gene: ENSMUSG00000047126
AA Change: T162I

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 benign
Transcript: ENSMUST00000103186
AA Change: T158I

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099475
Gene: ENSMUSG00000047126
AA Change: T158I

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,207,450 (GRCm39) I247N probably damaging Het
Afdn A G 17: 14,109,153 (GRCm39) K1559E probably damaging Het
Ankhd1 C T 18: 36,777,386 (GRCm39) T1523I probably benign Het
Apc T A 18: 34,445,544 (GRCm39) N795K probably benign Het
Arhgap26 G T 18: 39,490,751 (GRCm39) probably benign Het
Atm C T 9: 53,402,209 (GRCm39) probably null Het
Atp1a4 T C 1: 172,072,473 (GRCm39) N394D probably damaging Het
Brinp3 T A 1: 146,776,812 (GRCm39) S420T possibly damaging Het
Cacna1d G T 14: 29,764,299 (GRCm39) R2078S probably damaging Het
Cacna1e T C 1: 154,279,429 (GRCm39) D1720G probably damaging Het
Camk2a T A 18: 61,097,031 (GRCm39) V38E probably damaging Het
Camk4 G A 18: 33,240,996 (GRCm39) probably null Het
Ccr7 G A 11: 99,036,161 (GRCm39) R254C probably damaging Het
Celf5 C T 10: 81,302,881 (GRCm39) G267D probably damaging Het
Cfap65 G A 1: 74,965,634 (GRCm39) P459S probably damaging Het
Chd1l T C 3: 97,498,599 (GRCm39) K267E probably damaging Het
Chl1 T A 6: 103,692,354 (GRCm39) Y331N probably damaging Het
Col16a1 T A 4: 129,960,833 (GRCm39) D430E unknown Het
Cspg4 T C 9: 56,800,027 (GRCm39) V1597A probably damaging Het
Cstf2t T A 19: 31,062,264 (GRCm39) L600H probably benign Het
Cyp27b1 T C 10: 126,884,163 (GRCm39) V5A possibly damaging Het
Depdc5 C A 5: 33,136,746 (GRCm39) Q1339K probably damaging Het
Diaph3 G T 14: 87,203,882 (GRCm39) P592Q probably damaging Het
Dync2i1 A T 12: 116,193,191 (GRCm39) probably null Het
Epha8 T C 4: 136,660,658 (GRCm39) M687V probably damaging Het
Fhod1 T A 8: 106,063,596 (GRCm39) probably benign Het
Gls2 C A 10: 128,043,479 (GRCm39) S73* probably null Het
Gm3604 T A 13: 62,519,657 (GRCm39) M33L probably damaging Het
Gpr39 A G 1: 125,605,278 (GRCm39) T69A probably benign Het
Hal T C 10: 93,339,398 (GRCm39) F496L probably damaging Het
Hipk1 T C 3: 103,668,926 (GRCm39) E490G probably damaging Het
Ints7 T G 1: 191,338,315 (GRCm39) probably null Het
Itpr3 A G 17: 27,332,553 (GRCm39) E1799G possibly damaging Het
Kif11 T A 19: 37,395,451 (GRCm39) M570K probably benign Het
Kif18b G T 11: 102,799,096 (GRCm39) Q702K probably damaging Het
Kif19a A G 11: 114,681,019 (GRCm39) T247A probably damaging Het
Lama3 A G 18: 12,658,136 (GRCm39) E360G probably damaging Het
Loxl3 G T 6: 83,014,469 (GRCm39) A126S probably benign Het
Mc5r C T 18: 68,472,435 (GRCm39) R265W probably damaging Het
Mpl A G 4: 118,306,197 (GRCm39) V340A probably benign Het
Mrpl13 G T 15: 55,411,615 (GRCm39) H56Q probably damaging Het
Msr1 T C 8: 40,077,263 (GRCm39) T116A probably benign Het
N4bp3 T C 11: 51,536,930 (GRCm39) K48E probably damaging Het
Naaladl1 A G 19: 6,156,225 (GRCm39) T104A probably benign Het
Neu1 C T 17: 35,151,742 (GRCm39) R179W probably damaging Het
Or10d5 T C 9: 39,861,630 (GRCm39) T146A probably benign Het
Or8k21 A T 2: 86,145,524 (GRCm39) Y35* probably null Het
Osbp G T 19: 11,951,198 (GRCm39) E248* probably null Het
Otx1 T A 11: 21,946,634 (GRCm39) probably benign Het
Parp4 A T 14: 56,851,274 (GRCm39) Q759L probably damaging Het
Pax6 A C 2: 105,516,228 (GRCm39) S169R probably benign Het
Pigg T G 5: 108,480,783 (GRCm39) I389M probably damaging Het
Pla2g4a C A 1: 149,776,940 (GRCm39) V59F probably damaging Het
Plcb4 A T 2: 135,781,903 (GRCm39) Q241H probably benign Het
Plpp6 A G 19: 28,941,720 (GRCm39) D107G probably damaging Het
Ppp6r2 T A 15: 89,159,690 (GRCm39) L459Q probably damaging Het
Prss55 A T 14: 64,313,171 (GRCm39) W238R probably damaging Het
Rgl1 C T 1: 152,412,032 (GRCm39) E446K probably damaging Het
Ric3 C T 7: 108,638,090 (GRCm39) G221D probably damaging Het
Rnf167 T C 11: 70,540,129 (GRCm39) F83S probably damaging Het
Ryr1 C T 7: 28,798,202 (GRCm39) V947M probably damaging Het
Scn1a A G 2: 66,119,312 (GRCm39) L1397P probably benign Het
Sh3bp1 T A 15: 78,802,519 (GRCm39) V251E possibly damaging Het
Slc25a10 A T 11: 120,387,900 (GRCm39) I198L probably benign Het
Smoc2 A T 17: 14,589,233 (GRCm39) N234I possibly damaging Het
Spdl1 T A 11: 34,710,136 (GRCm39) K382* probably null Het
Ssrp1 G A 2: 84,872,660 (GRCm39) probably null Het
Tril G T 6: 53,795,012 (GRCm39) R737S probably damaging Het
Triqk T A 4: 12,974,817 (GRCm39) probably null Het
Ttc19 T C 11: 62,174,519 (GRCm39) Y128H probably damaging Het
Vmn1r15 T C 6: 57,235,677 (GRCm39) S182P possibly damaging Het
Vmn1r226 A G 17: 20,908,475 (GRCm39) I236V probably damaging Het
Vmn2r120 A C 17: 57,816,479 (GRCm39) N625K probably damaging Het
Vmn2r78 T C 7: 86,569,362 (GRCm39) I85T probably damaging Het
Whamm C T 7: 81,241,519 (GRCm39) R277* probably null Het
Wnt7a C T 6: 91,371,468 (GRCm39) V165I probably benign Het
Zbtb40 A T 4: 136,712,328 (GRCm39) Y1127N possibly damaging Het
Zfyve1 A T 12: 83,594,705 (GRCm39) H762Q probably damaging 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
R3031:Cltc UTSW 11 86,621,158 (GRCm39) missense probably damaging 1.00
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'- CTGGTAAGAGTACTCAAGTTTCACGTC -3'
(R):5'- GAAGGCCCATACCATGACTGATG -3'

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