Incidental Mutation 'R9325:Cdh17'
| ID |
706444 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh17
|
| Ensembl Gene |
ENSMUSG00000028217 |
| Gene Name |
cadherin 17 |
| Synonyms |
BILL-cadherin, HPT-1, LI-cadherin |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R9325 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
11758157-11817905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11810319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 670
(Y670C)
|
| 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: Y670C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029871
Gene: ENSMUSG00000028217
AA Change: Y670C
| 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: Y670C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103938
Gene: ENSMUSG00000028217
AA Change: Y670C
| 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: 99.1%
|
| Validation Efficiency |
98% (59/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,646,578 (GRCm39) |
D1076G |
possibly damaging |
Het |
| Aadacl2fm1 |
T |
A |
3: 59,843,862 (GRCm39) |
N185K |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,849,279 (GRCm39) |
D1060G |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,991,257 (GRCm39) |
D4180E |
probably benign |
Het |
| Ank2 |
A |
C |
3: 126,775,504 (GRCm39) |
F42V |
probably damaging |
Het |
| Ankib1 |
A |
G |
5: 3,822,523 (GRCm39) |
I61T |
possibly damaging |
Het |
| Arhgap9 |
T |
C |
10: 127,161,722 (GRCm39) |
S238P |
probably damaging |
Het |
| Bpifa3 |
A |
T |
2: 153,975,600 (GRCm39) |
I57F |
probably damaging |
Het |
| Ceacam20 |
C |
A |
7: 19,720,607 (GRCm39) |
R515S |
probably benign |
Het |
| Cers5 |
A |
T |
15: 99,637,338 (GRCm39) |
V274E |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,751,186 (GRCm39) |
D865G |
|
Het |
| Cnih3 |
G |
A |
1: 181,181,072 (GRCm39) |
|
probably null |
Het |
| Coro2b |
G |
T |
9: 62,396,609 (GRCm39) |
H44N |
probably benign |
Het |
| Cuta |
A |
G |
17: 27,158,289 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,415,402 (GRCm39) |
I625V |
possibly damaging |
Het |
| Ddx4 |
A |
T |
13: 112,736,441 (GRCm39) |
F643Y |
probably damaging |
Het |
| Dlc1 |
A |
T |
8: 37,038,518 (GRCm39) |
V1020E |
possibly damaging |
Het |
| Dnah1 |
G |
T |
14: 30,998,160 (GRCm39) |
T2559K |
possibly damaging |
Het |
| Eng |
C |
T |
2: 32,561,445 (GRCm39) |
A152V |
probably damaging |
Het |
| F7 |
G |
T |
8: 13,083,430 (GRCm39) |
R190L |
probably benign |
Het |
| Fcgr4 |
T |
C |
1: 170,847,711 (GRCm39) |
V103A |
probably damaging |
Het |
| Fer1l4 |
C |
T |
2: 155,877,934 (GRCm39) |
V1005I |
probably damaging |
Het |
| Fmod |
A |
T |
1: 133,968,371 (GRCm39) |
H137L |
probably damaging |
Het |
| Fndc7 |
T |
C |
3: 108,790,834 (GRCm39) |
D64G |
possibly damaging |
Het |
| Gucy2c |
A |
T |
6: 136,743,992 (GRCm39) |
C202* |
probably null |
Het |
| Hspg2 |
C |
T |
4: 137,265,552 (GRCm39) |
R1783W |
probably damaging |
Het |
| Hyal6 |
T |
A |
6: 24,743,455 (GRCm39) |
S384T |
probably damaging |
Het |
| Igsf21 |
T |
A |
4: 139,794,466 (GRCm39) |
I136F |
probably damaging |
Het |
| Isl1 |
A |
G |
13: 116,436,105 (GRCm39) |
S321P |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,639,378 (GRCm39) |
K813R |
probably benign |
Het |
| Klk7 |
A |
G |
7: 43,461,437 (GRCm39) |
E18G |
possibly damaging |
Het |
| Lox |
T |
C |
18: 52,661,400 (GRCm39) |
M225V |
probably benign |
Het |
| Lrrfip2 |
T |
A |
9: 110,990,429 (GRCm39) |
M50K |
possibly damaging |
Het |
| Lrrn2 |
A |
T |
1: 132,865,241 (GRCm39) |
Q102L |
probably damaging |
Het |
| Mcm3 |
T |
C |
1: 20,875,562 (GRCm39) |
R692G |
probably benign |
Het |
| Mmp14 |
T |
C |
14: 54,676,248 (GRCm39) |
V326A |
probably damaging |
Het |
| Muc2 |
G |
A |
7: 141,298,559 (GRCm39) |
M70I |
|
Het |
| Nefl |
T |
C |
14: 68,322,460 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
C |
G |
7: 23,020,755 (GRCm39) |
A414G |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,212,271 (GRCm39) |
L586Q |
probably damaging |
Het |
| Or10ag58 |
G |
A |
2: 87,265,290 (GRCm39) |
G153D |
possibly damaging |
Het |
| Or8c13 |
T |
C |
9: 38,091,327 (GRCm39) |
D264G |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 115,990,558 (GRCm39) |
D467E |
probably damaging |
Het |
| Polr2g |
T |
A |
19: 8,774,669 (GRCm39) |
K71N |
probably benign |
Het |
| Pramel31 |
A |
G |
4: 144,089,093 (GRCm39) |
H137R |
probably benign |
Het |
| Prkci |
A |
G |
3: 31,085,333 (GRCm39) |
K184R |
probably damaging |
Het |
| Prr15 |
G |
A |
6: 54,306,137 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
T |
A |
2: 145,727,819 (GRCm39) |
N896K |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,479,640 (GRCm39) |
E4414G |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,376,756 (GRCm39) |
D994E |
probably damaging |
Het |
| Slc6a4 |
C |
A |
11: 76,909,999 (GRCm39) |
P418Q |
probably benign |
Het |
| Smarcc2 |
T |
A |
10: 128,324,076 (GRCm39) |
M1138K |
unknown |
Het |
| Snph |
C |
T |
2: 151,436,208 (GRCm39) |
R240Q |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,647,095 (GRCm39) |
T122S |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,817,768 (GRCm39) |
D1244G |
probably benign |
Het |
| Tmem168 |
T |
C |
6: 13,583,253 (GRCm39) |
I543V |
probably benign |
Het |
| Tyw1 |
T |
C |
5: 130,291,762 (GRCm39) |
S77P |
probably damaging |
Het |
| Usp36 |
T |
G |
11: 118,160,031 (GRCm39) |
D471A |
possibly damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,897,558 (GRCm39) |
Y191C |
probably damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,268,433 (GRCm39) |
Q12R |
possibly damaging |
Het |
| Zfp820 |
A |
T |
17: 22,038,380 (GRCm39) |
I316N |
probably damaging |
Het |
| Zscan4-ps3 |
T |
C |
7: 11,344,227 (GRCm39) |
F62L |
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 |
|
|
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 |
|
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'- ACACACTCACCTGGTTAGTATTATC -3'
(R):5'- AAGTAATTCCTTCATCCACCATTG -3'
Sequencing Primer
(F):5'- TCGAAGCCATGTTGCCAAG -3'
(R):5'- CATCCACCATTGATTTTTCTCATTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation