Incidental Mutation 'IGL00715:Cdh17'
ID |
9542 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cdh17
|
Ensembl Gene |
ENSMUSG00000028217 |
Gene Name |
cadherin 17 |
Synonyms |
BILL-cadherin, HPT-1, LI-cadherin |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.186)
|
Stock # |
IGL00715
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
11758157-11817905 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 11797780 bp (GRCm39)
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr3 |
C |
T |
1: 125,322,813 (GRCm39) |
A385T |
probably damaging |
Het |
Cntnap1 |
C |
T |
11: 101,074,031 (GRCm39) |
|
probably benign |
Het |
Dhrs7 |
T |
A |
12: 72,699,164 (GRCm39) |
M296L |
probably damaging |
Het |
Fmo2 |
T |
A |
1: 162,716,282 (GRCm39) |
K102* |
probably null |
Het |
Foxn3 |
T |
C |
12: 99,162,866 (GRCm39) |
E345G |
possibly damaging |
Het |
Gabrg1 |
A |
G |
5: 70,973,298 (GRCm39) |
|
probably null |
Het |
Gp1ba |
A |
C |
11: 70,530,744 (GRCm39) |
|
probably benign |
Het |
Grwd1 |
A |
G |
7: 45,480,037 (GRCm39) |
Y57H |
probably damaging |
Het |
Hars2 |
G |
A |
18: 36,918,989 (GRCm39) |
C83Y |
probably damaging |
Het |
Il5ra |
C |
T |
6: 106,689,435 (GRCm39) |
|
probably benign |
Het |
Itpr3 |
T |
C |
17: 27,302,603 (GRCm39) |
V87A |
probably benign |
Het |
Lrig2 |
A |
G |
3: 104,371,264 (GRCm39) |
V455A |
probably damaging |
Het |
P2ry10 |
T |
A |
X: 106,146,189 (GRCm39) |
S41R |
probably damaging |
Het |
Plcb2 |
C |
T |
2: 118,544,215 (GRCm39) |
|
probably null |
Het |
Plod2 |
G |
A |
9: 92,480,667 (GRCm39) |
R420H |
probably damaging |
Het |
Prkcd |
T |
C |
14: 30,317,960 (GRCm39) |
N656S |
probably damaging |
Het |
Serpinb6a |
A |
G |
13: 34,115,495 (GRCm39) |
F42S |
possibly damaging |
Het |
Sis |
A |
G |
3: 72,841,457 (GRCm39) |
I786T |
probably damaging |
Het |
Slc5a11 |
C |
T |
7: 122,849,397 (GRCm39) |
A194V |
probably null |
Het |
Spo11 |
T |
C |
2: 172,830,825 (GRCm39) |
|
probably null |
Het |
Trap1a |
A |
G |
X: 138,234,983 (GRCm39) |
D94G |
unknown |
Het |
Urb1 |
A |
G |
16: 90,550,209 (GRCm39) |
|
probably null |
Het |
Usp1 |
T |
C |
4: 98,822,818 (GRCm39) |
|
probably null |
Het |
Zfp300 |
T |
C |
X: 20,950,493 (GRCm39) |
D34G |
probably damaging |
Het |
Zfp507 |
T |
C |
7: 35,494,137 (GRCm39) |
E302G |
possibly damaging |
Het |
|
Other mutations in Cdh17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00823:Cdh17
|
APN |
4 |
11,783,412 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL00824:Cdh17
|
APN |
4 |
11,784,675 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01572:Cdh17
|
APN |
4 |
11,784,621 (GRCm39) |
splice site |
probably benign |
|
IGL01602:Cdh17
|
APN |
4 |
11,795,670 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01605:Cdh17
|
APN |
4 |
11,795,670 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01759:Cdh17
|
APN |
4 |
11,771,262 (GRCm39) |
splice site |
probably benign |
|
IGL02065:Cdh17
|
APN |
4 |
11,771,373 (GRCm39) |
splice site |
probably benign |
|
IGL02448:Cdh17
|
APN |
4 |
11,784,680 (GRCm39) |
missense |
probably benign |
|
IGL02869:Cdh17
|
APN |
4 |
11,814,908 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03088:Cdh17
|
APN |
4 |
11,810,473 (GRCm39) |
missense |
probably damaging |
1.00 |
Disruptive
|
UTSW |
4 |
11,784,654 (GRCm39) |
missense |
probably damaging |
1.00 |
G1Funyon:Cdh17
|
UTSW |
4 |
11,795,659 (GRCm39) |
missense |
probably damaging |
0.99 |
R0054:Cdh17
|
UTSW |
4 |
11,785,186 (GRCm39) |
missense |
possibly damaging |
0.59 |
R0081:Cdh17
|
UTSW |
4 |
11,785,280 (GRCm39) |
splice site |
probably benign |
|
R0101:Cdh17
|
UTSW |
4 |
11,771,341 (GRCm39) |
missense |
probably benign |
0.00 |
R0432:Cdh17
|
UTSW |
4 |
11,771,273 (GRCm39) |
nonsense |
probably null |
|
R0718:Cdh17
|
UTSW |
4 |
11,810,451 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0946:Cdh17
|
UTSW |
4 |
11,795,581 (GRCm39) |
missense |
probably benign |
0.01 |
R1076:Cdh17
|
UTSW |
4 |
11,795,581 (GRCm39) |
missense |
probably benign |
0.01 |
R1217:Cdh17
|
UTSW |
4 |
11,799,676 (GRCm39) |
missense |
probably benign |
0.04 |
R2060:Cdh17
|
UTSW |
4 |
11,803,982 (GRCm39) |
missense |
probably benign |
0.03 |
R3808:Cdh17
|
UTSW |
4 |
11,795,671 (GRCm39) |
missense |
probably damaging |
0.99 |
R3850:Cdh17
|
UTSW |
4 |
11,785,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R4111:Cdh17
|
UTSW |
4 |
11,814,628 (GRCm39) |
missense |
probably damaging |
0.99 |
R4112:Cdh17
|
UTSW |
4 |
11,814,628 (GRCm39) |
missense |
probably damaging |
0.99 |
R4583:Cdh17
|
UTSW |
4 |
11,810,466 (GRCm39) |
missense |
probably benign |
0.00 |
R4683:Cdh17
|
UTSW |
4 |
11,817,036 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4797:Cdh17
|
UTSW |
4 |
11,810,390 (GRCm39) |
missense |
probably benign |
0.00 |
R5050:Cdh17
|
UTSW |
4 |
11,784,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R5071:Cdh17
|
UTSW |
4 |
11,810,325 (GRCm39) |
missense |
probably damaging |
0.98 |
R5569:Cdh17
|
UTSW |
4 |
11,816,990 (GRCm39) |
missense |
probably damaging |
0.96 |
R5790:Cdh17
|
UTSW |
4 |
11,814,945 (GRCm39) |
splice site |
probably null |
|
R6077:Cdh17
|
UTSW |
4 |
11,803,969 (GRCm39) |
missense |
probably benign |
0.22 |
R6581:Cdh17
|
UTSW |
4 |
11,799,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R7274:Cdh17
|
UTSW |
4 |
11,783,174 (GRCm39) |
nonsense |
probably null |
|
R7647:Cdh17
|
UTSW |
4 |
11,814,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R7649:Cdh17
|
UTSW |
4 |
11,814,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R7934:Cdh17
|
UTSW |
4 |
11,799,754 (GRCm39) |
critical splice donor site |
probably null |
|
R8290:Cdh17
|
UTSW |
4 |
11,817,037 (GRCm39) |
missense |
probably benign |
|
R8301:Cdh17
|
UTSW |
4 |
11,795,659 (GRCm39) |
missense |
probably damaging |
0.99 |
R8690:Cdh17
|
UTSW |
4 |
11,783,163 (GRCm39) |
missense |
probably benign |
0.05 |
R8709:Cdh17
|
UTSW |
4 |
11,795,685 (GRCm39) |
nonsense |
probably null |
|
R8818:Cdh17
|
UTSW |
4 |
11,771,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R8940:Cdh17
|
UTSW |
4 |
11,783,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R9243:Cdh17
|
UTSW |
4 |
11,771,333 (GRCm39) |
missense |
probably benign |
0.26 |
R9325:Cdh17
|
UTSW |
4 |
11,810,319 (GRCm39) |
missense |
probably damaging |
0.99 |
R9457:Cdh17
|
UTSW |
4 |
11,771,329 (GRCm39) |
missense |
probably damaging |
0.98 |
X0067:Cdh17
|
UTSW |
4 |
11,785,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2012-12-06 |