Incidental Mutation 'R8818:Cdh17'
| ID |
672853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh17
|
| Ensembl Gene |
ENSMUSG00000028217 |
| Gene Name |
cadherin 17 |
| Synonyms |
BILL-cadherin, HPT-1, LI-cadherin |
| MMRRC Submission |
068651-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R8818 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
11758157-11817905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11771323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 35
(F35S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029871]
[ENSMUST00000108303]
|
| AlphaFold |
Q9R100 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029871
AA Change: F35S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029871
Gene: ENSMUSG00000028217
AA Change: F35S
| 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: F35S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103938
Gene: ENSMUSG00000028217
AA Change: F35S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (55/56) |
| 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 |
|---|
| Abca14 |
G |
T |
7: 119,815,524 (GRCm39) |
M257I |
probably benign |
Het |
| Adam23 |
T |
C |
1: 63,584,627 (GRCm39) |
V345A |
probably damaging |
Het |
| Anxa6 |
T |
G |
11: 54,902,578 (GRCm39) |
N52T |
possibly damaging |
Het |
| Arhgef15 |
G |
A |
11: 68,841,938 (GRCm39) |
H496Y |
probably damaging |
Het |
| Atp2a3 |
A |
G |
11: 72,872,765 (GRCm39) |
E771G |
probably damaging |
Het |
| B3gnt5 |
A |
G |
16: 19,588,347 (GRCm39) |
T189A |
possibly damaging |
Het |
| Becn1 |
A |
T |
11: 101,186,230 (GRCm39) |
S125T |
probably damaging |
Het |
| Bltp1 |
T |
G |
3: 37,050,697 (GRCm39) |
M3011R |
possibly damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,900,484 (GRCm39) |
M283V |
probably benign |
Het |
| Clcn1 |
T |
A |
6: 42,282,477 (GRCm39) |
I515N |
probably damaging |
Het |
| Cyp4f17 |
A |
G |
17: 32,743,068 (GRCm39) |
Y247C |
probably damaging |
Het |
| Dcp1a |
T |
A |
14: 30,240,899 (GRCm39) |
H236Q |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 117,874,764 (GRCm39) |
N4034Y |
probably damaging |
Het |
| Dsg1a |
A |
G |
18: 20,473,599 (GRCm39) |
I891V |
possibly damaging |
Het |
| Eid3 |
A |
G |
10: 82,703,441 (GRCm39) |
N301D |
probably damaging |
Het |
| Fbrs |
C |
A |
7: 127,078,694 (GRCm39) |
D108E |
unknown |
Het |
| Fbxw14 |
A |
C |
9: 109,116,071 (GRCm39) |
|
probably benign |
Het |
| Fzd8 |
A |
G |
18: 9,214,474 (GRCm39) |
T519A |
probably benign |
Het |
| Gldc |
C |
G |
19: 30,078,212 (GRCm39) |
M928I |
probably benign |
Het |
| Gpr3 |
C |
A |
4: 132,938,538 (GRCm39) |
V45L |
possibly damaging |
Het |
| Gramd1b |
A |
T |
9: 40,215,780 (GRCm39) |
I690K |
probably benign |
Het |
| Grhl2 |
T |
A |
15: 37,270,912 (GRCm39) |
D33E |
probably damaging |
Het |
| Kcnj4 |
C |
A |
15: 79,369,920 (GRCm39) |
R20L |
probably damaging |
Het |
| Klhl5 |
A |
G |
5: 65,305,989 (GRCm39) |
I319V |
probably benign |
Het |
| Lars2 |
A |
T |
9: 123,221,892 (GRCm39) |
E135D |
possibly damaging |
Het |
| Map9 |
T |
A |
3: 82,291,270 (GRCm39) |
Y602N |
possibly damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,463,027 (GRCm39) |
L6* |
probably null |
Het |
| Naa35 |
C |
T |
13: 59,748,761 (GRCm39) |
T131M |
probably damaging |
Het |
| Nucb2 |
T |
A |
7: 116,121,136 (GRCm39) |
L22Q |
possibly damaging |
Het |
| Or8g26 |
A |
G |
9: 39,096,062 (GRCm39) |
Y193C |
probably damaging |
Het |
| Or8k28 |
C |
A |
2: 86,286,078 (GRCm39) |
C179F |
probably damaging |
Het |
| Pcdhb6 |
C |
T |
18: 37,468,837 (GRCm39) |
T586I |
probably benign |
Het |
| Ppcs |
A |
T |
4: 119,279,330 (GRCm39) |
L74Q |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,517,216 (GRCm39) |
V677D |
probably benign |
Het |
| Psg27 |
C |
T |
7: 18,294,337 (GRCm39) |
G357S |
probably damaging |
Het |
| Ptgdr2 |
A |
G |
19: 10,918,380 (GRCm39) |
N299S |
probably damaging |
Het |
| Relb |
T |
A |
7: 19,353,762 (GRCm39) |
I39F |
probably damaging |
Het |
| Ripor2 |
T |
A |
13: 24,901,651 (GRCm39) |
S907R |
possibly damaging |
Het |
| Rnf170 |
T |
G |
8: 26,629,043 (GRCm39) |
D172E |
probably benign |
Het |
| Rnf31 |
C |
A |
14: 55,832,396 (GRCm39) |
Q273K |
probably benign |
Het |
| Rrp36 |
A |
T |
17: 46,983,336 (GRCm39) |
S93T |
probably damaging |
Het |
| Rsad1 |
A |
T |
11: 94,439,100 (GRCm39) |
V120D |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,661,441 (GRCm39) |
A1870T |
probably damaging |
Het |
| Serpina10 |
T |
G |
12: 103,595,063 (GRCm39) |
D52A |
probably benign |
Het |
| Slc47a1 |
A |
G |
11: 61,261,055 (GRCm39) |
I115T |
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,920,543 (GRCm39) |
M426K |
probably benign |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
T |
G |
7: 27,063,592 (GRCm39) |
E2283A |
possibly damaging |
Het |
| Top3a |
A |
G |
11: 60,633,877 (GRCm39) |
C740R |
probably damaging |
Het |
| Tpgs2 |
A |
T |
18: 25,291,365 (GRCm39) |
V33E |
probably damaging |
Het |
| Treh |
T |
C |
9: 44,592,823 (GRCm39) |
I116T |
probably damaging |
Het |
| Trpm3 |
A |
T |
19: 22,955,952 (GRCm39) |
N1138I |
possibly damaging |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Vamp9 |
A |
T |
5: 100,089,094 (GRCm39) |
N120Y |
probably damaging |
Het |
| Zswim9 |
G |
T |
7: 12,994,456 (GRCm39) |
Q567K |
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 |
|
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 |
|
|
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'- AGGCCAGTTTGCTTTCTGAC -3'
(R):5'- AGCCTGTGTGAGAATGCTAG -3'
Sequencing Primer
(F):5'- GACCAGGTCCACACTATTTTTGG -3'
(R):5'- GTGTGAGAATGCTAGCTCCTCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation