Incidental Mutation 'R9243:Cdh17'
| ID |
701085 |
| 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: 0.186)
|
| Stock # |
R9243 (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 A
at 11771333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 38
(F38L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029871]
[ENSMUST00000108303]
|
| AlphaFold |
Q9R100 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029871
AA Change: F38L
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029871
Gene: ENSMUSG00000028217
AA Change: F38L
| 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: F38L
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103938
Gene: ENSMUSG00000028217
AA Change: F38L
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (51/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
T |
A |
12: 53,188,035 (GRCm39) |
S1816R |
probably benign |
Het |
| Appl1 |
A |
T |
14: 26,649,710 (GRCm39) |
F605L |
possibly damaging |
Het |
| Cacna1g |
T |
A |
11: 94,347,893 (GRCm39) |
I732F |
possibly damaging |
Het |
| Capg |
T |
A |
6: 72,538,070 (GRCm39) |
S319T |
probably benign |
Het |
| Cep295 |
T |
A |
9: 15,243,605 (GRCm39) |
N1617I |
probably benign |
Het |
| Cep57 |
C |
T |
9: 13,738,204 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,195,265 (GRCm39) |
|
probably benign |
Het |
| Csnk1g2 |
C |
A |
10: 80,475,648 (GRCm39) |
A405E |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,857,871 (GRCm39) |
V1481A |
unknown |
Het |
| Exoc2 |
T |
C |
13: 31,109,778 (GRCm39) |
K197E |
probably benign |
Het |
| Fancg |
C |
T |
4: 43,006,565 (GRCm39) |
V330I |
possibly damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Gad2 |
A |
G |
2: 22,525,053 (GRCm39) |
E279G |
possibly damaging |
Het |
| Gria1 |
A |
G |
11: 57,128,888 (GRCm39) |
Y454C |
probably benign |
Het |
| Grik3 |
C |
T |
4: 125,601,690 (GRCm39) |
R856C |
probably benign |
Het |
| Hdac4 |
C |
A |
1: 91,900,511 (GRCm39) |
R622I |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,900,512 (GRCm39) |
R622G |
probably benign |
Het |
| Htt |
T |
C |
5: 35,056,276 (GRCm39) |
|
probably benign |
Het |
| Idh1 |
A |
G |
1: 65,207,656 (GRCm39) |
|
probably null |
Het |
| Igf1r |
A |
G |
7: 67,861,775 (GRCm39) |
S1112G |
probably benign |
Het |
| Impg2 |
A |
T |
16: 56,051,823 (GRCm39) |
S242C |
probably damaging |
Het |
| Itgb1 |
T |
A |
8: 129,433,587 (GRCm39) |
S34T |
probably benign |
Het |
| Kcnh8 |
A |
G |
17: 53,205,542 (GRCm39) |
I546V |
probably damaging |
Het |
| Klrd1 |
T |
G |
6: 129,568,795 (GRCm39) |
M1R |
probably null |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,644 (GRCm39) |
C253* |
probably null |
Het |
| Mapk7 |
A |
G |
11: 61,384,535 (GRCm39) |
I57T |
possibly damaging |
Het |
| Msrb2 |
A |
G |
2: 19,388,073 (GRCm39) |
N74D |
probably benign |
Het |
| Myd88 |
A |
T |
9: 119,168,773 (GRCm39) |
S85T |
probably benign |
Het |
| Myo1c |
G |
T |
11: 75,541,437 (GRCm39) |
|
probably benign |
Het |
| Nnt |
T |
A |
13: 119,494,060 (GRCm39) |
N674Y |
unknown |
Het |
| Nrcam |
A |
G |
12: 44,620,607 (GRCm39) |
Y878C |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,023,392 (GRCm39) |
T662A |
probably benign |
Het |
| Or14j4 |
T |
C |
17: 37,921,408 (GRCm39) |
Q78R |
probably benign |
Het |
| Or4l15 |
A |
G |
14: 50,197,881 (GRCm39) |
V216A |
probably benign |
Het |
| Or51ah3 |
A |
G |
7: 103,209,782 (GRCm39) |
S33G |
probably benign |
Het |
| Or8k40 |
A |
G |
2: 86,584,282 (GRCm39) |
S267P |
possibly damaging |
Het |
| Pappa2 |
C |
A |
1: 158,763,763 (GRCm39) |
V583L |
probably damaging |
Het |
| Parp1 |
T |
G |
1: 180,415,680 (GRCm39) |
S500A |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,989 (GRCm39) |
D593G |
probably damaging |
Het |
| Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
| Prrc1 |
C |
G |
18: 57,496,271 (GRCm39) |
S74W |
possibly damaging |
Het |
| Rag2 |
G |
A |
2: 101,460,419 (GRCm39) |
G243D |
probably damaging |
Het |
| Sgpp1 |
T |
C |
12: 75,781,961 (GRCm39) |
E126G |
probably damaging |
Het |
| Skic2 |
G |
A |
17: 35,064,198 (GRCm39) |
T496M |
probably benign |
Het |
| Slc17a1 |
C |
A |
13: 24,064,432 (GRCm39) |
F329L |
probably benign |
Het |
| Slc52a3 |
G |
A |
2: 151,846,512 (GRCm39) |
V158I |
probably benign |
Het |
| Slf1 |
T |
A |
13: 77,273,575 (GRCm39) |
T75S |
possibly damaging |
Het |
| Smok2b |
G |
A |
17: 13,453,637 (GRCm39) |
|
probably null |
Het |
| Tmem125 |
A |
T |
4: 118,399,089 (GRCm39) |
V114E |
probably damaging |
Het |
| Ube2f |
A |
T |
1: 91,181,980 (GRCm39) |
|
probably benign |
Het |
| Zdhhc19 |
T |
A |
16: 32,315,992 (GRCm39) |
F30I |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,662,050 (GRCm39) |
|
probably benign |
Het |
| Zfp462 |
C |
A |
4: 55,009,595 (GRCm39) |
Y520* |
probably null |
Het |
| Zzz3 |
A |
G |
3: 152,133,920 (GRCm39) |
D326G |
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 |
|
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 |
2022-03-25 |
Incidental Mutation