Incidental Mutation 'R8709:Cdh17'
| ID |
669426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh17
|
| Ensembl Gene |
ENSMUSG00000028217 |
| Gene Name |
cadherin 17 |
| Synonyms |
BILL-cadherin, HPT-1, LI-cadherin |
| MMRRC Submission |
068563-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R8709 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
11758157-11817905 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 11795685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 422
(E422*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029871]
[ENSMUST00000108303]
|
| AlphaFold |
Q9R100 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029871
AA Change: E422*
|
| SMART Domains |
Protein: ENSMUSP00000029871
Gene: ENSMUSG00000028217
AA Change: E422*
| 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 null
Transcript: ENSMUST00000108303
AA Change: E422*
|
| SMART Domains |
Protein: ENSMUSP00000103938
Gene: ENSMUSG00000028217
AA Change: E422*
| 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 |
96% (55/57) |
| 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 |
|---|
| 3100002H09Rik |
A |
G |
4: 124,504,316 (GRCm39) |
S79P |
unknown |
Het |
| Aadacl4fm2 |
C |
G |
4: 144,281,863 (GRCm39) |
A310P |
probably damaging |
Het |
| Adamts20 |
T |
A |
15: 94,238,947 (GRCm39) |
D757V |
probably damaging |
Het |
| Adamts9 |
C |
T |
6: 92,784,144 (GRCm39) |
G1570D |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,077,642 (GRCm39) |
Y109C |
possibly damaging |
Het |
| Agl |
G |
A |
3: 116,566,121 (GRCm39) |
R335C |
|
Het |
| Ankfy1 |
C |
A |
11: 72,646,532 (GRCm39) |
T805K |
possibly damaging |
Het |
| Cast |
A |
T |
13: 74,892,780 (GRCm39) |
V96E |
probably damaging |
Het |
| Cox4i1 |
T |
A |
8: 121,396,110 (GRCm39) |
L21H |
possibly damaging |
Het |
| Cwc22 |
T |
C |
2: 77,726,694 (GRCm39) |
E795G |
probably benign |
Het |
| Cwf19l2 |
C |
A |
9: 3,430,723 (GRCm39) |
Q352K |
probably benign |
Het |
| Cyp2d9 |
T |
C |
15: 82,339,276 (GRCm39) |
V226A |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,414,757 (GRCm39) |
I53V |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,674,476 (GRCm39) |
I434V |
probably benign |
Het |
| Dock8 |
C |
T |
19: 25,055,448 (GRCm39) |
Q137* |
probably null |
Het |
| Eif4b |
T |
G |
15: 102,002,116 (GRCm39) |
V515G |
unknown |
Het |
| Far2 |
T |
A |
6: 148,067,133 (GRCm39) |
N339K |
probably benign |
Het |
| Gpr22 |
T |
C |
12: 31,759,829 (GRCm39) |
T98A |
probably damaging |
Het |
| Hamp2 |
A |
G |
7: 30,621,974 (GRCm39) |
C72R |
probably damaging |
Het |
| Hmgn1 |
G |
A |
16: 95,928,540 (GRCm39) |
P16S |
possibly damaging |
Het |
| Hspd1 |
A |
G |
1: 55,120,922 (GRCm39) |
S256P |
probably benign |
Het |
| Iqcn |
T |
C |
8: 71,162,372 (GRCm39) |
C522R |
possibly damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,796,713 (GRCm39) |
H1147R |
probably damaging |
Het |
| Itgb1 |
T |
A |
8: 129,439,887 (GRCm39) |
|
probably benign |
Het |
| Klhl29 |
A |
T |
12: 5,140,681 (GRCm39) |
W654R |
probably damaging |
Het |
| Krtap22-2 |
T |
A |
16: 88,807,514 (GRCm39) |
Y28F |
unknown |
Het |
| Lcp2 |
T |
A |
11: 34,004,354 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
T |
G |
7: 141,370,663 (GRCm39) |
L3225R |
possibly damaging |
Het |
| Myom3 |
A |
G |
4: 135,523,607 (GRCm39) |
E908G |
possibly damaging |
Het |
| Nup54 |
A |
G |
5: 92,570,267 (GRCm39) |
|
probably benign |
Het |
| Or1p1 |
T |
A |
11: 74,180,054 (GRCm39) |
I194N |
possibly damaging |
Het |
| Or4a74 |
C |
T |
2: 89,440,366 (GRCm39) |
V27I |
probably benign |
Het |
| Or51af1 |
T |
C |
7: 103,141,519 (GRCm39) |
T189A |
probably benign |
Het |
| Or5ae1 |
T |
A |
7: 84,565,671 (GRCm39) |
I228N |
probably damaging |
Het |
| Pak4 |
A |
C |
7: 28,261,969 (GRCm39) |
D453E |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,805,567 (GRCm39) |
T2120A |
|
Het |
| Pkhd1l1 |
T |
A |
15: 44,381,570 (GRCm39) |
S1099T |
probably benign |
Het |
| Pld2 |
C |
T |
11: 70,444,275 (GRCm39) |
R524W |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,951,832 (GRCm39) |
D1466E |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
| Rp1l1 |
A |
C |
14: 64,269,295 (GRCm39) |
D1627A |
probably damaging |
Het |
| Sephs1 |
T |
C |
2: 4,889,402 (GRCm39) |
V60A |
probably benign |
Het |
| Sipa1 |
C |
T |
19: 5,710,980 (GRCm39) |
R10Q |
probably damaging |
Het |
| Sp4 |
T |
C |
12: 118,263,189 (GRCm39) |
T286A |
possibly damaging |
Het |
| Spag5 |
T |
A |
11: 78,192,738 (GRCm39) |
S23R |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,958,916 (GRCm39) |
N313K |
probably benign |
Het |
| Stag1 |
T |
A |
9: 100,772,975 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
T |
A |
2: 26,835,817 (GRCm39) |
H217Q |
probably benign |
Het |
| Stxbp2 |
T |
A |
8: 3,683,914 (GRCm39) |
F104I |
possibly damaging |
Het |
| Tcf12 |
A |
G |
9: 71,765,787 (GRCm39) |
V575A |
possibly damaging |
Het |
| Tcf12 |
A |
T |
9: 71,830,069 (GRCm39) |
S131T |
probably benign |
Het |
| Tg |
T |
A |
15: 66,553,786 (GRCm39) |
S400R |
probably benign |
Het |
| Tomm40 |
T |
C |
7: 19,444,703 (GRCm39) |
T200A |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,919,323 (GRCm39) |
E71G |
unknown |
Het |
| Zfp292 |
A |
T |
4: 34,805,982 (GRCm39) |
V2359E |
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 |
|
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'- CCAAAGGTAACAGCATCGGG -3'
(R):5'- TCTCAGAGGACCAAAGACAATG -3'
Sequencing Primer
(F):5'- TAACAGCATCGGGATCTTTGAG -3'
(R):5'- GACAATGCGATGTCTCCGAATCTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation