Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02326:Cdh20'

288479

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdh20

Ensembl Gene

ENSMUSG00000050840

Gene Name

cadherin 20

Synonyms

Cdh7

Accession Numbers

Genbank: NM_011800

Is this an essential gene?

Probably non essential (E-score: 0.244) question?

Stock #

IGL02326

Quality Score

Status

Chromosome

Chromosomal Location

104768529-104995481 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104975039 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 485 (L485P)

Ref Sequence

ENSEMBL: ENSMUSP00000052078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062528]

Predicted Effect

probably damaging
Transcript: ENSMUST00000062528
AA Change: L485P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052078
Gene: ENSMUSG00000050840
AA Change: L485P

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
CA	82	163	1.01e-15	SMART
CA	187	272	1.35e-30	SMART
CA	296	388	1.98e-14	SMART
CA	411	492	1.61e-23	SMART
CA	515	602	3.9e-13	SMART
transmembrane domain	620	642	N/A	INTRINSIC
Pfam:Cadherin_C	645	793	2.6e-49	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	T	C	3: 121,671,402	V29A	unknown	Het
Abcc8	C	A	7: 46,122,857		probably null	Het
Ankar	A	T	1: 72,666,355	I614N	probably damaging	Het
Ash1l	G	A	3: 88,966,057	R49H	probably benign	Het
Atp8b1	T	C	18: 64,538,583	H1123R	probably damaging	Het
Casp12	T	C	9: 5,358,317	Y375H	possibly damaging	Het
Cbl	A	G	9: 44,151,473	I861T	possibly damaging	Het
Cobl	A	T	11: 12,386,712	N25K	possibly damaging	Het
Col14a1	T	C	15: 55,418,797	V818A	unknown	Het
Csmd3	G	A	15: 47,755,963		probably benign	Het
Dpp6	A	G	5: 27,664,757	Y509C	probably damaging	Het
Fabp2	C	T	3: 122,898,746	R96C	probably damaging	Het
Fam53a	T	C	5: 33,600,594	D395G	probably damaging	Het
Gabrb1	T	A	5: 71,700,847	I72K	probably damaging	Het
Hmcn2	G	A	2: 31,450,952	S4479N	probably damaging	Het
Hrnr	C	T	3: 93,323,745	T430I	unknown	Het
Ighv1-53	T	A	12: 115,158,615	T47S	probably benign	Het
Ilk	C	A	7: 105,741,633	P261Q	probably damaging	Het
Ints10	T	G	8: 68,804,833	D228E	probably damaging	Het
Kcnq5	A	T	1: 21,402,592	S782R	probably benign	Het
Map3k4	A	G	17: 12,249,010	S1046P	probably damaging	Het
Musk	C	T	4: 58,354,113	P374S	probably benign	Het
Olfr1106	G	A	2: 87,049,011	S75L	possibly damaging	Het
Olfr1152	T	A	2: 87,868,675	I228N	probably damaging	Het
Olfr1462	C	A	19: 13,191,415	Y249*	probably null	Het
Olfr670	T	A	7: 104,960,646	I29F	probably benign	Het
Pkd2	T	C	5: 104,477,075	Y246H	probably benign	Het
Plekha5	G	T	6: 140,583,850	G340*	probably null	Het
Plxna4	T	A	6: 32,152,905	M1828L	probably damaging	Het
Prex1	A	G	2: 166,621,185	I252T	probably benign	Het
Pura	A	G	18: 36,287,778	D206G	probably damaging	Het
Rad54b	T	A	4: 11,612,713	F782I	probably damaging	Het
Rbp4	T	C	19: 38,124,115	D90G	probably damaging	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Scn7a	C	A	2: 66,700,048	R651L	probably benign	Het
Sh2d3c	A	T	2: 32,749,151		probably null	Het
Slc43a1	T	G	2: 84,849,771	L87R	probably damaging	Het
Sppl2c	A	G	11: 104,187,273	T300A	probably benign	Het
Srgap2	T	A	1: 131,356,907		probably null	Het
Tkt	G	A	14: 30,572,225	V531M	probably damaging	Het
Twsg1	T	C	17: 65,926,436	D173G	possibly damaging	Het
Ugt2b37	G	T	5: 87,241,002	H451N	probably benign	Het
Ugt2b38	C	T	5: 87,423,733	D147N	probably damaging	Het
Vmn1r15	T	C	6: 57,258,270	I41T	probably benign	Het
Vwa5a	A	T	9: 38,737,956	T667S	probably benign	Het
Xrn2	A	G	2: 147,047,713	E672G	probably benign	Het
Zfp235	T	A	7: 24,135,302	M1K	probably null	Het
Zmym1	T	C	4: 127,047,760	E847G	probably damaging	Het

Other mutations in Cdh20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Cdh20	APN	1	104953887	missense	probably benign	0.05
IGL00743:Cdh20	APN	1	104947428	missense	probably benign	0.06
IGL00848:Cdh20	APN	1	104934256	missense	probably benign
IGL01393:Cdh20	APN	1	104934244	missense	probably benign
IGL01396:Cdh20	APN	1	104947429	missense	possibly damaging	0.59
IGL01485:Cdh20	APN	1	104934107	missense	probably benign	0.05
IGL01612:Cdh20	APN	1	104994170	missense	probably benign	0.02
IGL01947:Cdh20	APN	1	104993924	missense	possibly damaging	0.91
IGL01967:Cdh20	APN	1	104941037	missense	probably damaging	1.00
IGL02226:Cdh20	APN	1	104954091	splice site	probably benign
IGL02318:Cdh20	APN	1	104954039	missense	probably null	0.03
IGL02798:Cdh20	APN	1	104947465	missense	probably damaging	0.97
IGL02963:Cdh20	APN	1	104934098	start codon destroyed	probably null	0.66
IGL03081:Cdh20	APN	1	104941257	missense	probably damaging	1.00
3-1:Cdh20	UTSW	1	104947420	missense	possibly damaging	0.84
IGL02991:Cdh20	UTSW	1	104934247	missense	probably benign
R0178:Cdh20	UTSW	1	104975051	missense	possibly damaging	0.82
R1114:Cdh20	UTSW	1	104979014	missense	probably damaging	0.96
R1401:Cdh20	UTSW	1	104947497	missense	possibly damaging	0.65
R1502:Cdh20	UTSW	1	104954030	missense	probably benign	0.06
R1764:Cdh20	UTSW	1	104934345	splice site	probably benign
R2198:Cdh20	UTSW	1	104947322	critical splice acceptor site	probably null
R2279:Cdh20	UTSW	1	104947414	missense	probably damaging	1.00
R2419:Cdh20	UTSW	1	104975015	missense	possibly damaging	0.92
R2897:Cdh20	UTSW	1	104947474	missense	probably damaging	1.00
R4243:Cdh20	UTSW	1	104942143	missense	probably damaging	1.00
R4244:Cdh20	UTSW	1	104942143	missense	probably damaging	1.00
R4349:Cdh20	UTSW	1	104979089	missense	probably damaging	1.00
R4350:Cdh20	UTSW	1	104979089	missense	probably damaging	1.00
R4352:Cdh20	UTSW	1	104979089	missense	probably damaging	1.00
R4353:Cdh20	UTSW	1	104979089	missense	probably damaging	1.00
R4719:Cdh20	UTSW	1	104934310	missense	probably damaging	0.97
R4754:Cdh20	UTSW	1	104984685	missense	probably damaging	0.99
R4795:Cdh20	UTSW	1	104941264	missense	probably damaging	1.00
R4796:Cdh20	UTSW	1	104941264	missense	probably damaging	1.00
R4955:Cdh20	UTSW	1	104984803	missense	probably damaging	1.00
R5056:Cdh20	UTSW	1	104953997	missense	probably benign	0.00
R5127:Cdh20	UTSW	1	104947348	missense	probably damaging	1.00
R5269:Cdh20	UTSW	1	104934157	missense	possibly damaging	0.67
R5563:Cdh20	UTSW	1	104947357	missense	probably benign	0.29
R5634:Cdh20	UTSW	1	104975075	missense	probably damaging	0.97
R5708:Cdh20	UTSW	1	104984910	missense	probably damaging	1.00
R5822:Cdh20	UTSW	1	104934098	start codon destroyed	probably null	0.49
R5933:Cdh20	UTSW	1	104984671	missense	probably damaging	1.00
R6109:Cdh20	UTSW	1	104994014	missense	probably damaging	1.00
R6521:Cdh20	UTSW	1	104942134	missense	probably damaging	1.00
R6911:Cdh20	UTSW	1	104984686	missense	possibly damaging	0.95
R7169:Cdh20	UTSW	1	104947353	missense	possibly damaging	0.91
R7207:Cdh20	UTSW	1	104993977	missense	probably damaging	0.98
R7208:Cdh20	UTSW	1	104954071	missense	possibly damaging	0.63
R7297:Cdh20	UTSW	1	104970873	missense	probably benign
R7535:Cdh20	UTSW	1	104975043	missense	probably damaging	1.00
R7587:Cdh20	UTSW	1	104941279	missense	probably damaging	1.00
R7748:Cdh20	UTSW	1	104941299	missense	probably damaging	1.00
R7879:Cdh20	UTSW	1	104947322	critical splice acceptor site	probably null
R7962:Cdh20	UTSW	1	104947322	critical splice acceptor site	probably null

Posted On

2015-04-16