Mutagenetix > Incidental Mutation

Incidental Mutation 'R8022:Epcam'

617496

Institutional Source

Beutler Lab

Gene Symbol

Epcam

Ensembl Gene

ENSMUSG00000045394

Gene Name

epithelial cell adhesion molecule

Synonyms

GA733-2, Egp314, EpCAM, gp40, Ly74, EGP-2, CD326, panepithelial glycoprotein 314, TROP1, Ep-CAM, EpCAM1, Tacstd1

MMRRC Submission

067461-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87635979-87651106 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87646308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 277 (S277P)

Ref Sequence

ENSEMBL: ENSMUSP00000061935 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053577]

AlphaFold

Q99JW5

Predicted Effect

probably benign
Transcript: ENSMUST00000053577
AA Change: S277P

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000061935
Gene: ENSMUSG00000045394
AA Change: S277P

Domain	Start	End	E-Value	Type
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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,223,854 (GRCm38)	T1386S	probably benign	Het
AI661453	T	G	17: 47,466,236 (GRCm38)	S296A	unknown	Het
Ambp	G	T	4: 63,144,197 (GRCm38)	N268K	probably damaging	Het
Ankrd11	T	C	8: 122,887,593 (GRCm38)	K2503E	probably damaging	Het
Ap1g1	C	A	8: 109,832,735 (GRCm38)	R221S	possibly damaging	Het
Ap5z1	T	C	5: 142,470,149 (GRCm38)		probably null	Het
Aspa	A	C	11: 73,322,206 (GRCm38)	N103K	probably benign	Het
BC049730	T	A	7: 24,714,174 (GRCm38)	I205N	possibly damaging	Het
Bend7	G	A	2: 4,752,779 (GRCm38)	V211I	probably benign	Het
Bsn	A	G	9: 108,114,404 (GRCm38)	M1383T	probably benign	Het
Cad	G	T	5: 31,068,806 (GRCm38)	V1117F	probably damaging	Het
Cdh2	A	G	18: 16,590,301 (GRCm38)	L856S	probably damaging	Het
Cdh7	T	A	1: 110,061,108 (GRCm38)	S247T	probably benign	Het
Ces1b	A	G	8: 93,069,315 (GRCm38)		probably null	Het
Chd7	T	A	4: 8,751,605 (GRCm38)	V34E	unknown	Het
Clca3a2	A	T	3: 144,805,766 (GRCm38)	F623I	probably damaging	Het
Cope	T	G	8: 70,312,803 (GRCm38)	M217R	probably benign	Het
Crim1	T	A	17: 78,315,555 (GRCm38)	I394N	possibly damaging	Het
Crnkl1	A	T	2: 145,918,566 (GRCm38)	I644N	probably damaging	Het
Cry1	G	A	10: 85,146,402 (GRCm38)	A360V	probably damaging	Het
Ctcfl	A	T	2: 173,118,766 (GRCm38)	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,616,114 (GRCm38)	Q475*	probably null	Het
Cyp39a1	T	C	17: 43,746,577 (GRCm38)	Y436H	probably damaging	Het
Cyp3a25	T	A	5: 145,977,668 (GRCm38)	Q484L	probably benign	Het
Dnah1	A	G	14: 31,265,014 (GRCm38)	F3607S	probably damaging	Het
Dnali1	T	A	4: 125,065,530 (GRCm38)	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,153,330 (GRCm38)	I313V	probably benign	Het
Ehhadh	C	A	16: 21,777,820 (GRCm38)	A53S	probably benign	Het
Fbxo10	T	C	4: 45,062,062 (GRCm38)	I155V	possibly damaging	Het
Fgd6	A	T	10: 94,044,344 (GRCm38)	K353N	possibly damaging	Het
Glce	A	T	9: 62,060,591 (GRCm38)	M426K	probably benign	Het
Glmp	A	T	3: 88,326,520 (GRCm38)	N228I	probably damaging	Het
Gm4787	C	A	12: 81,377,720 (GRCm38)	V555F	possibly damaging	Het
Gm5114	T	A	7: 39,409,376 (GRCm38)	H273L	probably benign	Het
Gzmg	T	A	14: 56,157,446 (GRCm38)	T122S	probably benign	Het
Hace1	T	C	10: 45,700,970 (GRCm38)	V820A	probably damaging	Het
Igf2r	T	A	17: 12,718,795 (GRCm38)	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,458,873 (GRCm38)	M20V	probably benign	Het
Kcnn3	T	G	3: 89,609,703 (GRCm38)	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,473,239 (GRCm38)	F94Y	unknown	Het
Kmt2c	C	T	5: 25,281,680 (GRCm38)	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,782,557 (GRCm38)	E740G	probably benign	Het
Lmod3	T	C	6: 97,248,299 (GRCm38)	D187G	probably benign	Het
Lsm3	C	T	6: 91,519,561 (GRCm38)	H49Y	probably benign	Het
Magi1	T	C	6: 93,697,365 (GRCm38)	S962G	probably damaging	Het
Man2b1	G	A	8: 85,095,613 (GRCm38)	R782Q	probably damaging	Het
Mical2	A	T	7: 112,303,767 (GRCm38)	K148N	probably damaging	Het
Nbeal1	C	T	1: 60,260,272 (GRCm38)	Q1256*	probably null	Het
Ncam1	G	T	9: 49,564,892 (GRCm38)	A299D	possibly damaging	Het
Ncapg	A	G	5: 45,681,794 (GRCm38)	D512G	probably damaging	Het
Nkiras2	A	G	11: 100,624,287 (GRCm38)	N28D	probably benign	Het
Nprl2	A	C	9: 107,543,061 (GRCm38)	K53T	probably damaging	Het
Nr4a3	T	A	4: 48,051,510 (GRCm38)	I88N	probably damaging	Het
Oas3	A	G	5: 120,756,966 (GRCm38)	I986T	possibly damaging	Het
Olfr809	A	T	10: 129,776,785 (GRCm38)	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,099,293 (GRCm38)	Y187F	possibly damaging	Het
Pgc	A	G	17: 47,728,776 (GRCm38)	T32A	probably benign	Het
Ranbp2	A	C	10: 58,485,861 (GRCm38)	D2660A	possibly damaging	Het
Retreg1	A	G	15: 25,843,479 (GRCm38)	R46G		Het
Rrbp1	C	A	2: 143,956,792 (GRCm38)	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,967,232 (GRCm38)	T676S	probably benign	Het
Setdb1	A	T	3: 95,338,599 (GRCm38)	F672I	probably damaging	Het
Setdb1	T	A	3: 95,347,085 (GRCm38)	D195V	probably damaging	Het
Slc12a8	A	G	16: 33,625,086 (GRCm38)	E450G	probably benign	Het
Slc1a7	G	A	4: 108,012,276 (GRCm38)	V513M	probably benign	Het
Slc25a12	A	T	2: 71,275,189 (GRCm38)	V667E	unknown	Het
Slc39a3	T	C	10: 81,031,277 (GRCm38)	T212A	probably benign	Het
Slc45a1	C	T	4: 150,638,309 (GRCm38)	G373S	possibly damaging	Het
Snx11	G	A	11: 96,772,854 (GRCm38)	T53M	probably damaging	Het
Snx33	A	G	9: 56,925,340 (GRCm38)	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,178,765 (GRCm38)	R468C	probably damaging	Het
Stk32a	C	T	18: 43,315,101 (GRCm38)	Q382*	probably null	Het
Sun3	C	A	11: 9,023,376 (GRCm38)	S167I	probably damaging	Het
Sycp2	A	G	2: 178,355,062 (GRCm38)	L1116P	probably damaging	Het
Thbs4	T	G	13: 92,752,447 (GRCm38)	T913P	probably damaging	Het
Trav8d-1	C	T	14: 52,778,827 (GRCm38)	Q57*	probably null	Het
Trio	C	G	15: 27,749,866 (GRCm38)	V2250L	probably benign	Het
Unc119b	A	T	5: 115,127,043 (GRCm38)	I204N	probably damaging	Het
Usp4	A	G	9: 108,378,471 (GRCm38)	E576G	probably damaging	Het
Uvssa	T	A	5: 33,409,504 (GRCm38)	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,732,338 (GRCm38)	Y43C	probably damaging	Het
Xpo6	G	A	7: 126,169,254 (GRCm38)	L94F	probably benign	Het
Zbtb11	A	G	16: 56,006,020 (GRCm38)	K804R	probably damaging	Het
Zfp616	A	G	11: 74,084,068 (GRCm38)	R479G	probably benign	Het
Zfp661	T	C	2: 127,577,924 (GRCm38)	T99A	probably benign	Het
Zfp839	A	T	12: 110,855,098 (GRCm38)	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,189,568 (GRCm38)		probably null	Het

Other mutations in Epcam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02739:Epcam	APN	17	87,640,494 (GRCm38)	missense	probably benign	0.30
R0664:Epcam	UTSW	17	87,639,970 (GRCm38)	missense	possibly damaging	0.86
R1612:Epcam	UTSW	17	87,639,938 (GRCm38)	missense	possibly damaging	0.87
R1693:Epcam	UTSW	17	87,639,896 (GRCm38)	missense	probably benign
R1719:Epcam	UTSW	17	87,642,128 (GRCm38)	missense	probably damaging	1.00
R1998:Epcam	UTSW	17	87,640,474 (GRCm38)	missense	probably damaging	1.00
R3872:Epcam	UTSW	17	87,639,926 (GRCm38)	missense	possibly damaging	0.79
R4297:Epcam	UTSW	17	87,640,534 (GRCm38)	splice site	probably null
R4298:Epcam	UTSW	17	87,640,534 (GRCm38)	splice site	probably null
R4866:Epcam	UTSW	17	87,643,621 (GRCm38)	missense	possibly damaging	0.79
R4900:Epcam	UTSW	17	87,643,621 (GRCm38)	missense	possibly damaging	0.79
R5091:Epcam	UTSW	17	87,642,152 (GRCm38)	missense	probably damaging	1.00
R5301:Epcam	UTSW	17	87,636,877 (GRCm38)	missense	possibly damaging	0.92
R6207:Epcam	UTSW	17	87,640,436 (GRCm38)	missense	probably damaging	1.00
R7576:Epcam	UTSW	17	87,640,293 (GRCm38)	missense	probably damaging	1.00
R7751:Epcam	UTSW	17	87,640,476 (GRCm38)	nonsense	probably null
R7795:Epcam	UTSW	17	87,643,555 (GRCm38)	missense	probably benign	0.08
R9263:Epcam	UTSW	17	87,640,532 (GRCm38)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCTTGCAGACTGTCTAGAAC -3'
(R):5'- GCGGTCAATCTTTTCCAGCTTTAG -3'

Sequencing Primer
(F):5'- TCTCCTCTGTAGGTGAAGGG -3'
(R):5'- TCCAGCTTTAGGAAATGACTATTTTG -3'

Posted On

2020-01-23