Incidental Mutation 'R1612:Epcam'
ID 176898
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 039649-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1612 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 87943407-87958555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87947366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 40 (L40P)
Ref Sequence ENSEMBL: ENSMUSP00000061935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053577]
AlphaFold Q99JW5
Predicted Effect possibly damaging
Transcript: ENSMUST00000053577
AA Change: L40P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000061935
Gene: ENSMUSG00000045394
AA Change: L40P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
TY 96 139 3.96e-8 SMART
transmembrane domain 267 289 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 97% (69/71)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579G24Rik A G 3: 79,538,451 (GRCm39) T66A probably benign Het
Actb A G 5: 142,891,350 (GRCm39) F31S probably damaging Het
Adamts7 T C 9: 90,070,750 (GRCm39) S624P possibly damaging Het
Adh7 T C 3: 137,934,642 (GRCm39) I355T possibly damaging Het
Arhgef40 A G 14: 52,241,538 (GRCm39) E106G probably damaging Het
Brd10 A G 19: 29,695,245 (GRCm39) V1483A possibly damaging Het
Cabp7 T C 11: 4,689,198 (GRCm39) D149G probably damaging Het
Cass4 A T 2: 172,268,998 (GRCm39) Q362L possibly damaging Het
Cd14 G A 18: 36,858,718 (GRCm39) Q246* probably null Het
Cdr2l A C 11: 115,284,232 (GRCm39) E189D probably benign Het
Col6a6 A G 9: 105,654,748 (GRCm39) V991A probably damaging Het
Coq7 A G 7: 118,109,134 (GRCm39) W305R unknown Het
Cracr2a G T 6: 127,580,892 (GRCm39) G23* probably null Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Eps8 G A 6: 137,477,616 (GRCm39) P531S probably benign Het
Faap100 C A 11: 120,267,914 (GRCm39) L286F probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbn2 A T 18: 58,194,824 (GRCm39) C1446S probably damaging Het
Fmo3 A G 1: 162,795,454 (GRCm39) V127A probably damaging Het
Frem3 A G 8: 81,341,490 (GRCm39) D1261G probably damaging Het
Gabbr1 A G 17: 37,381,561 (GRCm39) Y775C probably damaging Het
Gbp11 G T 5: 105,474,462 (GRCm39) Q405K possibly damaging Het
Gdi2 T A 13: 3,610,051 (GRCm39) V260E probably benign Het
Glp2r C T 11: 67,633,033 (GRCm39) V98M possibly damaging Het
Gm13741 T C 2: 87,486,431 (GRCm39) Y278C probably damaging Het
Gm7732 G A 17: 21,350,177 (GRCm39) noncoding transcript Het
Gnptab T A 10: 88,264,344 (GRCm39) probably null Het
Hbs1l T G 10: 21,234,734 (GRCm39) F596V probably damaging Het
Krt78 A T 15: 101,860,279 (GRCm39) probably null Het
Krt87 A T 15: 101,386,092 (GRCm39) L223Q probably benign Het
Lcmt2 T C 2: 120,969,601 (GRCm39) Y274C probably damaging Het
Limd1 A G 9: 123,347,219 (GRCm39) Y620C probably damaging Het
Lvrn G T 18: 47,027,770 (GRCm39) A862S probably damaging Het
Map4k2 A G 19: 6,393,371 (GRCm39) E206G probably damaging Het
Med16 A G 10: 79,735,079 (GRCm39) S461P probably damaging Het
Mrfap1 C A 5: 36,953,706 (GRCm39) A78S probably damaging Het
Nav2 T A 7: 49,220,959 (GRCm39) N1715K probably damaging Het
Ndc1 A G 4: 107,252,265 (GRCm39) probably benign Het
Ngly1 G T 14: 16,290,867 (GRCm38) G450* probably null Het
Or13c25 T A 4: 52,911,501 (GRCm39) M98L probably benign Het
Or5k3 T C 16: 58,969,987 (GRCm39) M258T probably benign Het
Pde3b T A 7: 114,118,791 (GRCm39) Y643* probably null Het
Pdilt T G 7: 119,086,198 (GRCm39) N506H possibly damaging Het
Pear1 C T 3: 87,659,160 (GRCm39) probably null Het
Pfkp A T 13: 6,638,625 (GRCm39) M582K probably damaging Het
Pigl T A 11: 62,403,820 (GRCm39) F251I probably benign Het
Plk3 A G 4: 116,989,004 (GRCm39) Y252H probably damaging Het
Prdx3 A G 19: 60,862,872 (GRCm39) S12P possibly damaging Het
Prkag2 T C 5: 25,082,026 (GRCm39) I96V probably benign Het
Pwwp3a T A 10: 80,068,889 (GRCm39) probably benign Het
Rgs3 G A 4: 62,544,172 (GRCm39) V146M probably damaging Het
Serpinh1 T C 7: 98,998,138 (GRCm39) D164G probably damaging Het
Slc35d2 T C 13: 64,259,324 (GRCm39) probably benign Het
Slc6a6 A G 6: 91,718,008 (GRCm39) N316D probably damaging Het
Snx14 A T 9: 88,258,958 (GRCm39) M973K possibly damaging Het
Sptan1 C G 2: 29,893,348 (GRCm39) R1126G probably damaging Het
Stpg3 T C 2: 25,103,866 (GRCm39) T157A probably benign Het
Tmem39b A T 4: 129,580,715 (GRCm39) M259K possibly damaging Het
Tomm40l A T 1: 171,049,471 (GRCm39) probably null Het
Tsen34 G T 7: 3,698,395 (GRCm39) G180W probably damaging Het
Ube2l6 C T 2: 84,636,717 (GRCm39) R54W probably damaging Het
Vdac1 A T 11: 52,274,897 (GRCm39) T182S probably benign Het
Wdr3 T C 3: 100,058,515 (GRCm39) probably benign Het
Wsb1 T A 11: 79,139,411 (GRCm39) Q95L probably benign 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
R1693:Epcam UTSW 17 87,947,324 (GRCm39) missense probably benign
R1719:Epcam UTSW 17 87,949,556 (GRCm39) missense probably damaging 1.00
R1998:Epcam UTSW 17 87,947,902 (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'- CCAGCATTTCTGGCTCAAGACCAC -3'
(R):5'- GCCATCCAGGCCAAGGATTATTCAC -3'

Sequencing Primer
(F):5'- TGGCTCAAGACCACTTCTTAAAGG -3'
(R):5'- ACTGGCTGAAGATACTTTCCAC -3'
Posted On 2014-04-24