Incidental Mutation 'R1998:Epcam'
ID 224652
Institutional Source Beutler Lab
Gene Symbol Epcam
Ensembl Gene ENSMUSG00000045394
Gene Name epithelial cell adhesion molecule
Synonyms EpCAM, panepithelial glycoprotein 314, EpCAM1, gp40, TROP1, GA733-2, Egp314, Ly74, EGP-2, CD326, Ep-CAM, Tacstd1
MMRRC Submission 040008-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1998 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 87943407-87958555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87947902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 124 (V124A)
Ref Sequence ENSEMBL: ENSMUSP00000061935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053577]
AlphaFold Q99JW5
Predicted Effect probably damaging
Transcript: ENSMUST00000053577
AA Change: V124A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061935
Gene: ENSMUSG00000045394
AA Change: V124A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
TY 96 139 3.96e-8 SMART
transmembrane domain 267 289 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis with decreased embryo size, impaired labyrinth layer development and decreased number of trophoblast giant cells. Mice homozygous for another knock-out allele exhibit impaired intestinal tight junctions with lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T G 5: 88,118,553 (GRCm39) N12K probably damaging Het
2700049A03Rik T A 12: 71,235,393 (GRCm39) S1114R possibly damaging Het
Acot1 T A 12: 84,056,527 (GRCm39) W82R probably damaging Het
Adam22 T C 5: 8,379,995 (GRCm39) D101G probably damaging Het
Adcy9 T C 16: 4,115,276 (GRCm39) D705G probably benign Het
Adgrg3 T G 8: 95,763,296 (GRCm39) L244V probably damaging Het
Amh AGCGCCTTGG AG 10: 80,641,419 (GRCm39) probably null Het
Brinp1 C T 4: 68,680,790 (GRCm39) G580E probably damaging Het
Brwd1 G A 16: 95,822,488 (GRCm39) T1239M probably damaging Het
Camk1d A T 2: 5,366,836 (GRCm39) Y126* probably null Het
Camta1 T C 4: 151,162,337 (GRCm39) Y1560C probably damaging Het
Cbfa2t2 T A 2: 154,346,709 (GRCm39) L139M probably damaging Het
Cd226 T C 18: 89,225,343 (GRCm39) V80A probably damaging Het
Dgka C T 10: 128,565,808 (GRCm39) V367I probably benign Het
Dnajb13 A T 7: 100,153,817 (GRCm39) I206N probably benign Het
Dst A T 1: 34,295,428 (GRCm39) Q5693L probably damaging Het
Ear6 T A 14: 52,091,672 (GRCm39) I73N probably benign Het
Egr1 A G 18: 34,994,587 (GRCm39) I16V probably benign Het
Eif2s1 T A 12: 78,913,508 (GRCm39) C70S possibly damaging Het
Erbb2 T A 11: 98,319,779 (GRCm39) C624S probably damaging Het
Fam135b T A 15: 71,324,253 (GRCm39) H1238L probably damaging Het
Fam90a1a A G 8: 22,453,713 (GRCm39) D356G probably benign Het
Fbrsl1 G A 5: 110,524,305 (GRCm39) S127L probably benign Het
Fndc3c1 C T X: 105,464,311 (GRCm39) E1276K probably benign Het
Gbe1 A T 16: 70,365,929 (GRCm39) N702I probably damaging Het
Gm10643 A T 8: 84,791,053 (GRCm39) C20* probably null Het
Gpr156 A G 16: 37,818,270 (GRCm39) N322S possibly damaging Het
Gsdma T A 11: 98,564,520 (GRCm39) I333N probably damaging Het
Gstm1 A G 3: 107,922,127 (GRCm39) F170S probably damaging Het
Hgsnat C T 8: 26,435,280 (GRCm39) W618* probably null Het
Htr5a G A 5: 28,055,887 (GRCm39) V293M possibly damaging Het
Hyal4 A G 6: 24,756,310 (GRCm39) E176G probably benign Het
Iqca1l G A 5: 24,750,004 (GRCm39) R680C probably benign Het
Jag1 T C 2: 136,932,858 (GRCm39) D546G probably damaging Het
Kbtbd3 A G 9: 4,330,760 (GRCm39) E378G probably benign Het
Lipo4 A G 19: 33,491,701 (GRCm39) V94A probably damaging Het
Magea10 A T X: 71,426,379 (GRCm39) I205K probably benign Het
Manea A G 4: 26,327,871 (GRCm39) L390P probably damaging Het
Mars1 T A 10: 127,136,347 (GRCm39) K493* probably null Het
Mars1 T C 10: 127,138,740 (GRCm39) I439V probably benign Het
Mboat2 A G 12: 24,996,672 (GRCm39) D225G possibly damaging Het
Mcmbp T A 7: 128,310,887 (GRCm39) E350V probably damaging Het
Mki67 A G 7: 135,307,499 (GRCm39) M459T probably benign Het
Mlf1 G A 3: 67,302,624 (GRCm39) G150R probably damaging Het
Mtmr14 A G 6: 113,254,885 (GRCm39) D294G probably null Het
Nlrp4e A C 7: 23,020,671 (GRCm39) Y386S probably benign Het
Nomo1 A G 7: 45,683,368 (GRCm39) D38G possibly damaging Het
Nudcd2 T C 11: 40,624,844 (GRCm39) W18R probably damaging Het
Or11g26 T A 14: 50,752,813 (GRCm39) C51S probably benign Het
Or3a1b A G 11: 74,012,406 (GRCm39) Y97C probably benign Het
Or52e4 G T 7: 104,706,112 (GRCm39) V220L probably benign Het
Or5d16 G A 2: 87,773,490 (GRCm39) L161F probably benign Het
Or5w16 T C 2: 87,577,316 (GRCm39) Y259H probably damaging Het
Pcnx2 A T 8: 126,613,882 (GRCm39) V523D probably damaging Het
Pkd1 T C 17: 24,791,988 (GRCm39) V1225A probably damaging Het
Plekhh2 T A 17: 84,914,305 (GRCm39) L1236Q possibly damaging Het
Ppp2r1b A G 9: 50,794,885 (GRCm39) D570G probably damaging Het
Prrc2c T A 1: 162,532,487 (GRCm39) probably benign Het
Rai14 C T 15: 10,595,067 (GRCm39) probably null Het
Rap1gap2 A G 11: 74,286,659 (GRCm39) L547P probably benign Het
Rims3 A T 4: 120,748,555 (GRCm39) M259L probably benign Het
Rsbn1l G A 5: 21,107,368 (GRCm39) H549Y probably damaging Het
Sart3 A C 5: 113,885,982 (GRCm39) probably null Het
Scn7a C A 2: 66,513,613 (GRCm39) G1156C probably damaging Het
Sh3rf2 T A 18: 42,274,148 (GRCm39) V406D probably damaging Het
Slitrk6 T C 14: 110,989,255 (GRCm39) I151V probably damaging Het
Smarca2 A T 19: 26,608,493 (GRCm39) Q260L probably benign Het
Smco1 A G 16: 32,092,658 (GRCm39) R110G probably damaging Het
Spef2 T A 15: 9,668,989 (GRCm39) probably null Het
Stab1 T A 14: 30,884,110 (GRCm39) K219* probably null Het
Sulf1 G T 1: 12,929,058 (GRCm39) E869* probably null Het
Susd1 T C 4: 59,349,925 (GRCm39) I504V probably benign Het
Szt2 A G 4: 118,232,924 (GRCm39) probably null Het
Tas1r3 A T 4: 155,947,377 (GRCm39) C103S probably damaging Het
Thg1l C A 11: 45,841,030 (GRCm39) W243L possibly damaging Het
Tlr4 A T 4: 66,758,707 (GRCm39) D500V probably damaging Het
Tmem72 A G 6: 116,693,525 (GRCm39) V5A probably benign Het
Tns4 T G 11: 98,976,529 (GRCm39) M131L probably benign Het
Trim66 C T 7: 109,083,784 (GRCm39) probably null Het
Ttll6 T A 11: 96,030,601 (GRCm39) probably null Het
Ttn A T 2: 76,800,047 (GRCm39) I387N probably damaging Het
Ubqln5 T A 7: 103,777,948 (GRCm39) Q292L probably damaging Het
Vmn1r74 G T 7: 11,581,302 (GRCm39) V201F probably damaging Het
Vmn2r28 G T 7: 5,491,313 (GRCm39) D311E possibly damaging Het
Vtn T A 11: 78,390,542 (GRCm39) V67E probably damaging Het
Xirp2 T A 2: 67,339,393 (GRCm39) F545I probably damaging Het
Other mutations in Epcam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02739:Epcam APN 17 87,947,922 (GRCm39) missense probably benign 0.30
R0664:Epcam UTSW 17 87,947,398 (GRCm39) missense possibly damaging 0.86
R1612:Epcam UTSW 17 87,947,366 (GRCm39) missense possibly damaging 0.87
R1693:Epcam UTSW 17 87,947,324 (GRCm39) missense probably benign
R1719:Epcam UTSW 17 87,949,556 (GRCm39) missense probably damaging 1.00
R3872:Epcam UTSW 17 87,947,354 (GRCm39) missense possibly damaging 0.79
R4297:Epcam UTSW 17 87,947,962 (GRCm39) splice site probably null
R4298:Epcam UTSW 17 87,947,962 (GRCm39) splice site probably null
R4866:Epcam UTSW 17 87,951,049 (GRCm39) missense possibly damaging 0.79
R4900:Epcam UTSW 17 87,951,049 (GRCm39) missense possibly damaging 0.79
R5091:Epcam UTSW 17 87,949,580 (GRCm39) missense probably damaging 1.00
R5301:Epcam UTSW 17 87,944,305 (GRCm39) missense possibly damaging 0.92
R6207:Epcam UTSW 17 87,947,864 (GRCm39) missense probably damaging 1.00
R7576:Epcam UTSW 17 87,947,721 (GRCm39) missense probably damaging 1.00
R7751:Epcam UTSW 17 87,947,904 (GRCm39) nonsense probably null
R7795:Epcam UTSW 17 87,950,983 (GRCm39) missense probably benign 0.08
R8022:Epcam UTSW 17 87,953,736 (GRCm39) missense probably benign 0.02
R9263:Epcam UTSW 17 87,947,960 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- TGCTTGGCGATGAAAGCAG -3'
(R):5'- TGGACACTTGTCACTCCAAAAG -3'

Sequencing Primer
(F):5'- TTGGCGATGAAAGCAGAAATGACTC -3'
(R):5'- AGGCTGGTCTCAAACTCACTGTG -3'
Posted On 2014-08-25