Incidental Mutation 'R3808:Cdh17'
ID |
275026 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdh17
|
Ensembl Gene |
ENSMUSG00000028217 |
Gene Name |
cadherin 17 |
Synonyms |
BILL-cadherin, HPT-1, LI-cadherin |
MMRRC Submission |
040765-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.186)
|
Stock # |
R3808 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
11758157-11817905 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 11795671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 417
(Y417F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103938
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029871]
[ENSMUST00000108303]
|
AlphaFold |
Q9R100 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029871
AA Change: Y417F
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000029871 Gene: ENSMUSG00000028217 AA Change: Y417F
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: Y417F
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103938 Gene: ENSMUSG00000028217 AA Change: Y417F
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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Aldh3a2 |
G |
T |
11: 61,149,623 (GRCm39) |
L248M |
probably damaging |
Het |
Als2 |
A |
G |
1: 59,209,609 (GRCm39) |
S1458P |
probably benign |
Het |
Aoc1l3 |
C |
T |
6: 48,964,928 (GRCm39) |
P312L |
possibly damaging |
Het |
Arhgap5 |
A |
G |
12: 52,613,970 (GRCm39) |
E192G |
possibly damaging |
Het |
Atg2a |
A |
G |
19: 6,302,846 (GRCm39) |
K1019R |
possibly damaging |
Het |
Atp2b1 |
A |
G |
10: 98,839,010 (GRCm39) |
K613E |
possibly damaging |
Het |
Carm1 |
T |
C |
9: 21,498,258 (GRCm39) |
C421R |
probably damaging |
Het |
Cers1 |
A |
G |
8: 70,782,660 (GRCm39) |
D10G |
possibly damaging |
Het |
Clptm1l |
A |
C |
13: 73,760,573 (GRCm39) |
M319L |
probably benign |
Het |
Cntnap3 |
A |
G |
13: 64,929,618 (GRCm39) |
V527A |
probably damaging |
Het |
Creb3l2 |
A |
G |
6: 37,332,625 (GRCm39) |
S290P |
probably damaging |
Het |
Dock4 |
T |
G |
12: 40,722,809 (GRCm39) |
V305G |
probably damaging |
Het |
Dtl |
A |
C |
1: 191,280,466 (GRCm39) |
L356R |
probably damaging |
Het |
Eftud2 |
A |
T |
11: 102,732,289 (GRCm39) |
|
probably null |
Het |
Eif2b4 |
A |
G |
5: 31,348,512 (GRCm39) |
S88P |
possibly damaging |
Het |
Fat4 |
T |
G |
3: 39,036,587 (GRCm39) |
V3413G |
possibly damaging |
Het |
Fgfr2 |
T |
C |
7: 129,801,578 (GRCm39) |
M218V |
probably benign |
Het |
Grin2b |
A |
G |
6: 135,900,269 (GRCm39) |
L204P |
probably damaging |
Het |
Kcnj12 |
A |
G |
11: 60,961,103 (GRCm39) |
N467S |
probably benign |
Het |
Klhdc3 |
T |
A |
17: 46,988,858 (GRCm39) |
N111Y |
possibly damaging |
Het |
Lin9 |
A |
G |
1: 180,486,676 (GRCm39) |
I81V |
probably null |
Het |
Lrp2 |
T |
C |
2: 69,331,892 (GRCm39) |
D1621G |
probably damaging |
Het |
Lrp4 |
T |
A |
2: 91,307,047 (GRCm39) |
D389E |
probably damaging |
Het |
Med15 |
C |
T |
16: 17,473,598 (GRCm39) |
|
probably benign |
Het |
Nbea |
T |
C |
3: 55,625,269 (GRCm39) |
N2274S |
probably benign |
Het |
Nr3c2 |
G |
A |
8: 77,635,343 (GRCm39) |
G148D |
probably damaging |
Het |
Or10s1 |
A |
T |
9: 39,985,605 (GRCm39) |
M5L |
probably benign |
Het |
Or14j6 |
T |
C |
17: 38,214,464 (GRCm39) |
V9A |
probably benign |
Het |
Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
Paxip1 |
A |
G |
5: 27,977,027 (GRCm39) |
|
probably benign |
Het |
Pfas |
T |
C |
11: 68,880,779 (GRCm39) |
|
probably benign |
Het |
Plin3 |
C |
A |
17: 56,593,275 (GRCm39) |
A96S |
probably damaging |
Het |
Pnck |
T |
A |
X: 72,700,550 (GRCm39) |
I288F |
probably damaging |
Het |
Ppp4c |
C |
T |
7: 126,386,499 (GRCm39) |
G166D |
probably damaging |
Het |
Prss43 |
A |
T |
9: 110,656,840 (GRCm39) |
R115S |
probably damaging |
Het |
Rassf2 |
T |
C |
2: 131,840,180 (GRCm39) |
|
probably null |
Het |
Rdh16f1 |
T |
A |
10: 127,624,568 (GRCm39) |
D135E |
probably benign |
Het |
Rdh16f1 |
G |
A |
10: 127,624,569 (GRCm39) |
V136M |
probably damaging |
Het |
Rgs12 |
A |
G |
5: 35,189,698 (GRCm39) |
E702G |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,370,384 (GRCm39) |
K4728E |
probably damaging |
Het |
Ros1 |
T |
G |
10: 51,996,944 (GRCm39) |
T1243P |
probably benign |
Het |
Sall1 |
G |
A |
8: 89,758,101 (GRCm39) |
Q668* |
probably null |
Het |
Sbf2 |
C |
A |
7: 110,088,487 (GRCm39) |
*45L |
probably null |
Het |
Serpina3j |
A |
T |
12: 104,286,086 (GRCm39) |
I414F |
probably benign |
Het |
Sh2d3c |
T |
C |
2: 32,636,108 (GRCm39) |
Y159H |
probably damaging |
Het |
Slamf1 |
A |
G |
1: 171,625,745 (GRCm39) |
D307G |
probably null |
Het |
Slc22a13 |
T |
C |
9: 119,025,143 (GRCm39) |
T178A |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,736,536 (GRCm39) |
L588H |
probably damaging |
Het |
Trim12a |
G |
A |
7: 103,956,201 (GRCm39) |
A113V |
probably benign |
Het |
Vil1 |
T |
C |
1: 74,466,772 (GRCm39) |
V654A |
probably benign |
Het |
Vmn1r202 |
T |
C |
13: 22,686,070 (GRCm39) |
T116A |
possibly damaging |
Het |
Zfp267 |
T |
G |
3: 36,219,792 (GRCm39) |
|
probably null |
Het |
Zfp607a |
G |
A |
7: 27,578,826 (GRCm39) |
R632H |
probably benign |
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 |
|
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 |
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'- AGCATCGGGATCTTTGAGGC -3'
(R):5'- GACACCTAGTTCTCAGAGGACC -3'
Sequencing Primer
(F):5'- ATCGGGATCTTTGAGGCCCATG -3'
(R):5'- GACAATGCGATGTCTCCGAATCTG -3'
|
Posted On |
2015-04-02 |