Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01759:Cdh17'

153549

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdh17

Ensembl Gene

ENSMUSG00000028217

Gene Name

cadherin 17

Synonyms

BILL-cadherin, LI-cadherin, HPT-1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

IGL01759

Quality Score

Status

Chromosome

Chromosomal Location

11758147-11817895 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 11771262 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029871] [ENSMUST00000108303]

AlphaFold

Q9R100

Predicted Effect

probably benign
Transcript: ENSMUST00000029871

SMART Domains

Protein: ENSMUSP00000029871
Gene: ENSMUSG00000028217

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
CA	44	123	5.27e-10	SMART
CA	147	241	6.9e-14	SMART
CA	258	337	3.05e-15	SMART
CA	361	446	3.29e-11	SMART
CA	471	564	5.27e-10	SMART
CA	587	664	5.59e-23	SMART
Blast:CA	687	771	5e-39	BLAST
transmembrane domain	784	806	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108303

SMART Domains

Protein: ENSMUSP00000103938
Gene: ENSMUSG00000028217

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
CA	44	123	5.27e-10	SMART
CA	147	241	6.9e-14	SMART
CA	258	337	3.05e-15	SMART
CA	361	446	3.29e-11	SMART
CA	471	564	5.27e-10	SMART
CA	587	664	5.59e-23	SMART

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 member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygous mutant mice exhibit impaired B lymphocyte development and impaired IgG1 and IgG3 antibody response to T-independent antigen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	A	T	11: 95,835,799	D150E	probably damaging	Het
Akr1c14	T	A	13: 4,081,139	I277N	probably damaging	Het
Ap1b1	C	T	11: 5,019,433	T263I	probably damaging	Het
Atp6v0d2	C	A	4: 19,878,335	V313L	probably damaging	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Car2	G	A	3: 14,895,628		probably null	Het
Cep295	A	G	9: 15,323,559		probably null	Het
Cep97	T	C	16: 55,930,573	K27E	probably damaging	Het
Cops5	A	T	1: 10,027,249	N258K	probably damaging	Het
Dchs1	T	A	7: 105,755,302	T2678S	probably benign	Het
Dnah10	T	A	5: 124,755,786	F861Y	probably benign	Het
Dock10	T	C	1: 80,526,273	E1777G	probably damaging	Het
Dock5	G	A	14: 67,881,259	Q23*	probably null	Het
Ermp1	T	C	19: 29,615,836	K752R	probably benign	Het
Fam160a1	A	C	3: 85,688,447	I377S	probably damaging	Het
Gjd2	T	A	2: 114,011,106	I297L	probably benign	Het
Gm1123	T	C	9: 99,023,254	M68V	probably benign	Het
Gm28372	C	T	2: 130,406,898	R59W	probably damaging	Het
Gm9912	A	C	3: 149,185,438	F20V	unknown	Het
Gpat2	T	C	2: 127,430,896	F176S	possibly damaging	Het
Gpr150	T	C	13: 76,055,665	H387R	possibly damaging	Het
Gpr20	T	A	15: 73,696,420	D40V	probably damaging	Het
Jakmip3	A	T	7: 139,020,904	Q331L	probably damaging	Het
Kif5b	A	T	18: 6,211,019		probably benign	Het
Kif5b	A	G	18: 6,225,647	V179A	probably damaging	Het
Krt14	A	T	11: 100,204,416		probably benign	Het
L3mbtl3	A	G	10: 26,331,900	F307S	unknown	Het
Laptm4a	T	C	12: 8,934,687		probably benign	Het
Marveld3	T	C	8: 109,948,087	S366G	possibly damaging	Het
Mga	C	A	2: 119,951,195	T2234K	possibly damaging	Het
Mkrn2os	T	C	6: 115,592,331	N54S	probably benign	Het
Mras	T	C	9: 99,411,495	I31V	probably damaging	Het
Myh1	A	G	11: 67,219,906	D1518G	probably damaging	Het
Myoz2	A	T	3: 123,013,781	Y127N	possibly damaging	Het
Nhlrc1	C	A	13: 47,013,962	W273L	probably benign	Het
Nol9	C	T	4: 152,046,043		probably benign	Het
Nrxn2	T	C	19: 6,509,929	V1206A	probably damaging	Het
Olfr180	A	T	16: 58,915,928	F238I	probably damaging	Het
Olfr523	T	C	7: 140,176,534	I138T	probably benign	Het
Olfr694	T	C	7: 106,689,333	T133A	probably benign	Het
Olfr774	T	A	10: 129,239,072	F308I	probably benign	Het
Olfr971	T	A	9: 39,839,611	M59K	probably damaging	Het
Pappa	T	C	4: 65,205,158		probably null	Het
Pfkl	A	G	10: 78,000,731	S151P	probably damaging	Het
Pgbd5	C	T	8: 124,384,379	G191D	probably damaging	Het
Pikfyve	T	C	1: 65,253,353	V1276A	probably benign	Het
Pla2g4c	T	A	7: 13,348,316	Y486N	probably damaging	Het
Rasal2	C	A	1: 157,175,932	V386L	probably benign	Het
S1pr3	G	A	13: 51,419,512	R243Q	probably damaging	Het
Slc44a4	A	G	17: 34,921,243	D208G	probably benign	Het
Slc6a4	T	C	11: 77,013,288	S190P	probably damaging	Het
Snapc5	A	T	9: 64,180,497		probably null	Het
Tbc1d14	C	A	5: 36,571,569	R151L	probably damaging	Het
Tecpr2	T	A	12: 110,931,392		probably benign	Het
Tmem219	G	A	7: 126,897,138	P44L	probably damaging	Het
Ube2e1	T	C	14: 18,330,951	R51G	probably null	Het
Ugp2	T	C	11: 21,353,447	K53E	probably benign	Het
Vmn1r214	T	C	13: 23,034,492	I52T	probably benign	Het
Vmn2r124	C	T	17: 18,064,068	T457I	probably benign	Het
Vps13b	A	G	15: 35,878,789	E2978G	probably damaging	Het
Zfr	A	G	15: 12,159,655	D679G	probably damaging	Het
Zhx3	T	C	2: 160,780,714	N511S	probably damaging	Het

Other mutations in Cdh17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Cdh17	APN	4	11797780	splice site	probably benign
IGL00823:Cdh17	APN	4	11783412	missense	possibly damaging	0.78
IGL00824:Cdh17	APN	4	11784675	missense	probably benign	0.00
IGL01572:Cdh17	APN	4	11784621	splice site	probably benign
IGL01602:Cdh17	APN	4	11795670	missense	probably damaging	1.00
IGL01605:Cdh17	APN	4	11795670	missense	probably damaging	1.00
IGL02065:Cdh17	APN	4	11771373	splice site	probably benign
IGL02448:Cdh17	APN	4	11784680	missense	probably benign
IGL02869:Cdh17	APN	4	11814908	missense	probably benign	0.00
IGL03088:Cdh17	APN	4	11810473	missense	probably damaging	1.00
Disruptive	UTSW	4	11784654	missense	probably damaging	1.00
G1Funyon:Cdh17	UTSW	4	11795659	missense	probably damaging	0.99
R0054:Cdh17	UTSW	4	11785186	missense	possibly damaging	0.59
R0081:Cdh17	UTSW	4	11785280	splice site	probably benign
R0101:Cdh17	UTSW	4	11771341	missense	probably benign	0.00
R0432:Cdh17	UTSW	4	11771273	nonsense	probably null
R0718:Cdh17	UTSW	4	11810451	missense	possibly damaging	0.68
R0946:Cdh17	UTSW	4	11795581	missense	probably benign	0.01
R1076:Cdh17	UTSW	4	11795581	missense	probably benign	0.01
R1217:Cdh17	UTSW	4	11799676	missense	probably benign	0.04
R2060:Cdh17	UTSW	4	11803982	missense	probably benign	0.03
R3808:Cdh17	UTSW	4	11795671	missense	probably damaging	0.99
R3850:Cdh17	UTSW	4	11785201	missense	probably damaging	1.00
R4111:Cdh17	UTSW	4	11814628	missense	probably damaging	0.99
R4112:Cdh17	UTSW	4	11814628	missense	probably damaging	0.99
R4583:Cdh17	UTSW	4	11810466	missense	probably benign	0.00
R4683:Cdh17	UTSW	4	11817036	missense	possibly damaging	0.78
R4797:Cdh17	UTSW	4	11810390	missense	probably benign	0.00
R5050:Cdh17	UTSW	4	11784654	missense	probably damaging	1.00
R5071:Cdh17	UTSW	4	11810325	missense	probably damaging	0.98
R5569:Cdh17	UTSW	4	11816990	missense	probably damaging	0.96
R5790:Cdh17	UTSW	4	11814945	splice site	probably null
R6077:Cdh17	UTSW	4	11803969	missense	probably benign	0.22
R6581:Cdh17	UTSW	4	11799615	missense	probably damaging	1.00
R7274:Cdh17	UTSW	4	11783174	nonsense	probably null
R7647:Cdh17	UTSW	4	11814698	missense	probably damaging	1.00
R7649:Cdh17	UTSW	4	11814698	missense	probably damaging	1.00
R7934:Cdh17	UTSW	4	11799754	critical splice donor site	probably null
R8290:Cdh17	UTSW	4	11817037	missense	probably benign
R8301:Cdh17	UTSW	4	11795659	missense	probably damaging	0.99
R8690:Cdh17	UTSW	4	11783163	missense	probably benign	0.05
R8709:Cdh17	UTSW	4	11795685	nonsense	probably null
R8818:Cdh17	UTSW	4	11771323	missense	probably damaging	1.00
R8940:Cdh17	UTSW	4	11783226	missense	probably damaging	1.00
R9243:Cdh17	UTSW	4	11771333	missense	probably benign	0.26
R9325:Cdh17	UTSW	4	11810319	missense	probably damaging	0.99
R9457:Cdh17	UTSW	4	11771329	missense	probably damaging	0.98
X0067:Cdh17	UTSW	4	11785224	missense	probably damaging	0.99

Posted On

2014-02-04