Mutagenetix > Incidental Mutations

Incidental Mutation 'R5050:Cdh17'

394585

Institutional Source

Beutler Lab

Gene Symbol

Cdh17

Ensembl Gene

ENSMUSG00000028217

Gene Name

cadherin 17

Synonyms

BILL-cadherin, LI-cadherin, HPT-1

MMRRC Submission

042640-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R5050 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11758147-11817895 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11784654 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 270 (Y270C)

Ref Sequence

ENSEMBL: ENSMUSP00000103938 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000029871
AA Change: Y270C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029871
Gene: ENSMUSG00000028217
AA Change: Y270C

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 damaging
Transcript: ENSMUST00000108303
AA Change: Y270C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103938
Gene: ENSMUSG00000028217
AA Change: Y270C

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

Meta Mutation Damage Score

0.9470

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (69/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 9,012,458		probably benign	Het
Ap3m1	A	G	14: 21,044,775	I108T	probably benign	Het
Apobec1	T	C	6: 122,591,102	M1V	probably null	Het
Aqr	A	T	2: 114,112,609	L1161*	probably null	Het
Aqr	A	T	2: 114,170,025		probably null	Het
Arhgef37	A	G	18: 61,504,331	I420T	probably benign	Het
Cacna1g	C	T	11: 94,459,715	E435K	probably damaging	Het
Card6	G	T	15: 5,100,376	H513N	probably benign	Het
Ccdc158	A	C	5: 92,666,879	F29L	probably benign	Het
Ccr6	T	C	17: 8,256,104	L47S	probably damaging	Het
Cdc42bpa	T	A	1: 180,072,453	Y444*	probably null	Het
Cdh9	T	C	15: 16,778,147	F16S	probably benign	Het
Cdkl1	T	C	12: 69,757,240	K141R	probably damaging	Het
Chd4	T	C	6: 125,107,480	Y692H	probably damaging	Het
Dhrs7	T	A	12: 72,657,410	D104V	probably damaging	Het
Dhtkd1	A	T	2: 5,917,689	L553Q	probably benign	Het
Dnah7a	T	G	1: 53,497,096	D2596A	probably benign	Het
Dync1li2	T	C	8: 104,437,441	K151E	probably damaging	Het
Eno4	C	T	19: 58,955,496	H297Y	probably benign	Het
Epg5	T	A	18: 77,975,941	D976E	possibly damaging	Het
Fam160b1	T	A	19: 57,383,170	F571L	probably damaging	Het
Gm1966	T	C	7: 106,596,972		noncoding transcript	Het
Gm4553	C	A	7: 142,165,036	K218N	unknown	Het
Gm4788	T	A	1: 139,736,840	I494F	probably damaging	Het
Gpld1	A	T	13: 24,962,756	T234S	probably benign	Het
Gtpbp6	A	T	5: 110,104,701		probably benign	Het
Gucy2g	T	C	19: 55,240,935	E101G	probably benign	Het
Hira	G	A	16: 18,925,859	R442K	possibly damaging	Het
Hrh3	A	G	2: 180,100,557	L394P	probably damaging	Het
Igkv1-110	T	A	6: 68,271,192	F95Y	probably damaging	Het
Iqgap3	T	G	3: 88,090,186	V223G	probably damaging	Het
Itpk1	T	C	12: 102,704,810	T3A	probably damaging	Het
Jag1	A	G	2: 137,085,154	V895A	possibly damaging	Het
Kazn	G	A	4: 142,118,203		probably benign	Het
Large2	A	T	2: 92,367,779	L282Q	probably benign	Het
Lgmn	A	G	12: 102,403,421		probably null	Het
Lrp4	A	T	2: 91,492,422	I1119F	probably benign	Het
Map3k19	T	C	1: 127,823,562	H684R	probably benign	Het
Mier3	C	T	13: 111,714,573	A367V	possibly damaging	Het
Mpdz	A	G	4: 81,295,448	V1579A	probably benign	Het
Mroh2b	A	T	15: 4,900,450	D6V	possibly damaging	Het
Myh7b	A	G	2: 155,631,750	I1568V	probably benign	Het
Olfr675	T	A	7: 105,024,387	I198F	probably damaging	Het
Plch2	C	T	4: 155,043,309		probably benign	Het
Plek	T	C	11: 16,995,216	D38G	probably damaging	Het
Polr2f	A	G	15: 79,144,662		probably benign	Het
Samsn1	A	G	16: 75,888,757	S38P	probably benign	Het
Sf1	C	T	19: 6,372,559	T248I	probably damaging	Het
Sgms2	C	T	3: 131,330,356	V232M	probably benign	Het
Sharpin	A	T	15: 76,348,330	L160H	probably damaging	Het
Sympk	C	T	7: 19,036,042	R215C	probably benign	Het
Syn3	T	C	10: 86,407,668	T136A	probably benign	Het
Tcam1	G	A	11: 106,285,452	V335M	possibly damaging	Het
Tedc1	G	T	12: 113,156,705	V56L	possibly damaging	Het
Tenm4	T	C	7: 96,895,788	L2337P	probably damaging	Het
Ttn	G	A	2: 76,884,811		probably benign	Het
Tysnd1	T	A	10: 61,696,271	I234N	probably damaging	Het
Vmn2r51	T	C	7: 10,100,422	K230E	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
IGL01759:Cdh17	APN	4	11771262	splice site	probably benign
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
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
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	unclassified	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
X0067:Cdh17	UTSW	4	11785224	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGAAGAAAGAATTCCCTTGTCTGC -3'
(R):5'- TGCACAAACATCCAGGATCTAG -3'

Sequencing Primer
(F):5'- AGAATTCCCTTGTCTGCTTTTAAGG -3'
(R):5'- CCAGGATCTAGAACACAGTTTTG -3'

Posted On

2016-06-15