Incidental Mutation 'R0101:Cdh17'
ID |
33189 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdh17
|
Ensembl Gene |
ENSMUSG00000028217 |
Gene Name |
cadherin 17 |
Synonyms |
BILL-cadherin, HPT-1, LI-cadherin |
MMRRC Submission |
038387-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.186)
|
Stock # |
R0101 (G1)
|
Quality Score |
217 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
11758157-11817905 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 11771341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 41
(Q41R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103938
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029871]
[ENSMUST00000108303]
|
AlphaFold |
Q9R100 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029871
AA Change: Q41R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000029871 Gene: ENSMUSG00000028217 AA Change: Q41R
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
AA Change: Q41R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000103938 Gene: ENSMUSG00000028217 AA Change: Q41R
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 |
0.0984 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
Validation Efficiency |
100% (50/50) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
C |
T |
11: 119,901,739 (GRCm39) |
D829N |
probably benign |
Het |
B3galnt1 |
A |
G |
3: 69,483,139 (GRCm39) |
Y41H |
probably benign |
Het |
Carmil3 |
A |
C |
14: 55,735,212 (GRCm39) |
|
probably benign |
Het |
Cep43 |
A |
T |
17: 8,388,374 (GRCm39) |
S76C |
possibly damaging |
Het |
Chrm2 |
G |
T |
6: 36,501,430 (GRCm39) |
C429F |
probably damaging |
Het |
Cplane1 |
T |
A |
15: 8,250,444 (GRCm39) |
C1844S |
probably benign |
Het |
Cyld |
T |
A |
8: 89,444,928 (GRCm39) |
|
probably null |
Het |
Cyp2d11 |
C |
A |
15: 82,274,395 (GRCm39) |
|
probably benign |
Het |
Dnah1 |
A |
G |
14: 31,005,856 (GRCm39) |
Y2308H |
probably damaging |
Het |
Dnajc27 |
T |
C |
12: 4,139,142 (GRCm39) |
V60A |
probably benign |
Het |
Dnmbp |
A |
G |
19: 43,862,599 (GRCm39) |
V850A |
possibly damaging |
Het |
Emcn |
A |
T |
3: 137,047,001 (GRCm39) |
M1L |
possibly damaging |
Het |
Epc1 |
A |
T |
18: 6,462,998 (GRCm39) |
|
probably benign |
Het |
Fbxo21 |
T |
C |
5: 118,133,521 (GRCm39) |
L310P |
probably damaging |
Het |
Filip1 |
A |
G |
9: 79,726,810 (GRCm39) |
I603T |
probably benign |
Het |
Fndc3b |
A |
G |
3: 27,512,957 (GRCm39) |
V723A |
probably damaging |
Het |
Gemin5 |
G |
A |
11: 58,036,322 (GRCm39) |
P674S |
probably damaging |
Het |
Gsk3a |
T |
C |
7: 24,928,328 (GRCm39) |
D471G |
probably benign |
Het |
Igbp1b |
G |
A |
6: 138,634,658 (GRCm39) |
P262L |
probably damaging |
Het |
Itga11 |
T |
C |
9: 62,651,768 (GRCm39) |
L300S |
probably damaging |
Het |
Itsn2 |
T |
C |
12: 4,683,058 (GRCm39) |
|
probably benign |
Het |
Lhcgr |
A |
G |
17: 89,072,598 (GRCm39) |
S150P |
probably damaging |
Het |
Man1a |
T |
C |
10: 53,951,120 (GRCm39) |
M1V |
probably null |
Het |
Mical2 |
C |
T |
7: 111,936,074 (GRCm39) |
R892C |
possibly damaging |
Het |
Mtus2 |
T |
C |
5: 148,019,845 (GRCm39) |
S747P |
probably damaging |
Het |
Mug1 |
A |
G |
6: 121,861,206 (GRCm39) |
K1276E |
possibly damaging |
Het |
Or1n1b |
A |
G |
2: 36,780,138 (GRCm39) |
S241P |
probably damaging |
Het |
Pfkfb4 |
C |
G |
9: 108,839,711 (GRCm39) |
P260R |
probably benign |
Het |
Prkca |
A |
T |
11: 107,948,626 (GRCm39) |
L121Q |
probably damaging |
Het |
Prpf40b |
T |
C |
15: 99,204,681 (GRCm39) |
|
probably benign |
Het |
Ripor2 |
T |
C |
13: 24,864,615 (GRCm39) |
M215T |
probably damaging |
Het |
Rpn1 |
A |
G |
6: 88,070,769 (GRCm39) |
D213G |
possibly damaging |
Het |
Rreb1 |
C |
A |
13: 38,115,518 (GRCm39) |
P959Q |
probably benign |
Het |
Sema5b |
T |
C |
16: 35,483,472 (GRCm39) |
|
probably benign |
Het |
Slc38a10 |
A |
G |
11: 120,041,903 (GRCm39) |
M1T |
probably null |
Het |
Slco1c1 |
G |
T |
6: 141,477,236 (GRCm39) |
L11F |
probably damaging |
Het |
Spef2 |
T |
C |
15: 9,713,194 (GRCm39) |
T393A |
probably damaging |
Het |
Srp54b |
A |
G |
12: 55,302,405 (GRCm39) |
|
probably benign |
Het |
St14 |
G |
T |
9: 31,008,403 (GRCm39) |
N512K |
probably benign |
Het |
Syce1l |
T |
A |
8: 114,382,061 (GRCm39) |
S237T |
probably benign |
Het |
Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
Tamm41 |
A |
T |
6: 115,009,207 (GRCm39) |
Y129N |
probably damaging |
Het |
Tctn2 |
T |
C |
5: 124,753,357 (GRCm39) |
|
noncoding transcript |
Het |
Tpr |
T |
C |
1: 150,285,053 (GRCm39) |
|
probably benign |
Het |
Vsig10 |
T |
A |
5: 117,473,134 (GRCm39) |
|
probably null |
Het |
Zfp335 |
T |
C |
2: 164,741,910 (GRCm39) |
K635R |
probably damaging |
Het |
Zfp541 |
A |
G |
7: 15,811,968 (GRCm39) |
Y207C |
probably damaging |
Het |
|
Other mutations in Cdh17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00715:Cdh17
|
APN |
4 |
11,797,780 (GRCm39) |
splice site |
probably benign |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAACCCTCCACTCCGTACATTG -3'
(R):5'- TCAGCAGCTTTTGCACTCAGGAC -3'
Sequencing Primer
(F):5'- CGTACATTGTTTCTGCAAGTGAC -3'
(R):5'- TGGAGTCCATAATGCCGAC -3'
|
Posted On |
2013-05-09 |