Incidental Mutation 'IGL02234:Cdh19'
| ID |
285856 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdh19
|
| Ensembl Gene |
ENSMUSG00000047216 |
| Gene Name |
cadherin 19, type 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02234
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
110816056-110905314 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110859956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 175
(D175G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094626]
|
| AlphaFold |
E9Q3A7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094626
AA Change: D175G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092210
Gene: ENSMUSG00000047216
AA Change: D175G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
CA
|
64 |
144 |
2.44e-14 |
SMART |
|
CA
|
168 |
252 |
3.21e-23 |
SMART |
|
CA
|
276 |
367 |
6.2e-7 |
SMART |
|
CA
|
390 |
466 |
2.69e-16 |
SMART |
|
CA
|
489 |
576 |
6.68e-3 |
SMART |
|
transmembrane domain
|
594 |
616 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
619 |
764 |
1.7e-50 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of three related type II cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellular cadherin repeats. Loss of cadherins may be associated with cancer formation. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,645,179 (GRCm39) |
T1010M |
possibly damaging |
Het |
| Atr |
A |
G |
9: 95,829,303 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 179,978,756 (GRCm39) |
K1585* |
probably null |
Het |
| Celsr3 |
G |
T |
9: 108,707,159 (GRCm39) |
R1214L |
probably benign |
Het |
| Chchd1 |
T |
C |
14: 20,753,478 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
T |
C |
8: 11,266,713 (GRCm39) |
K1165E |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,890,631 (GRCm39) |
F1888L |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 47,811,512 (GRCm39) |
R1193L |
probably damaging |
Het |
| Cyp2d11 |
T |
A |
15: 82,274,340 (GRCm39) |
H347L |
probably benign |
Het |
| Cyp4f13 |
A |
G |
17: 33,143,748 (GRCm39) |
|
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,549,039 (GRCm39) |
V193A |
probably benign |
Het |
| Dus4l |
T |
C |
12: 31,691,495 (GRCm39) |
|
probably benign |
Het |
| Epc1 |
G |
A |
18: 6,439,938 (GRCm39) |
H79Y |
probably damaging |
Het |
| Gm12588 |
T |
A |
11: 121,799,151 (GRCm39) |
|
|
Het |
| Gpr107 |
T |
C |
2: 31,067,845 (GRCm39) |
Y222H |
probably damaging |
Het |
| Gzmn |
C |
T |
14: 56,406,464 (GRCm39) |
|
probably null |
Het |
| Helq |
A |
G |
5: 100,944,336 (GRCm39) |
I258T |
possibly damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,880,661 (GRCm39) |
K137R |
probably benign |
Het |
| Htr1f |
T |
A |
16: 64,746,430 (GRCm39) |
R287S |
probably damaging |
Het |
| Il20ra |
A |
C |
10: 19,625,018 (GRCm39) |
D99A |
probably damaging |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Mboat7 |
A |
G |
7: 3,694,350 (GRCm39) |
Y34H |
probably damaging |
Het |
| Mid2 |
T |
C |
X: 139,664,418 (GRCm39) |
S646P |
probably damaging |
Het |
| Msh6 |
T |
C |
17: 88,294,229 (GRCm39) |
S995P |
probably damaging |
Het |
| Mtmr10 |
A |
G |
7: 63,949,350 (GRCm39) |
I108V |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,226,842 (GRCm39) |
T1395M |
probably benign |
Het |
| Nlrp4f |
A |
G |
13: 65,342,302 (GRCm39) |
F448L |
probably damaging |
Het |
| Odc1 |
C |
A |
12: 17,598,621 (GRCm39) |
D220E |
possibly damaging |
Het |
| Or8k33 |
T |
C |
2: 86,383,610 (GRCm39) |
N286S |
probably damaging |
Het |
| Pax7 |
A |
G |
4: 139,555,901 (GRCm39) |
I189T |
probably damaging |
Het |
| Pcdh12 |
T |
A |
18: 38,416,588 (GRCm39) |
H179L |
probably damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,467,694 (GRCm39) |
M1836L |
probably benign |
Het |
| Psmc5 |
T |
C |
11: 106,153,836 (GRCm39) |
V390A |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,368,766 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
C |
T |
15: 32,679,318 (GRCm39) |
R866C |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,646,647 (GRCm39) |
F271S |
probably damaging |
Het |
| Tpgs2 |
T |
C |
18: 25,282,301 (GRCm39) |
|
probably null |
Het |
| Ttll8 |
T |
A |
15: 88,798,252 (GRCm39) |
I828F |
possibly damaging |
Het |
| Vmn1r7 |
T |
C |
6: 57,001,537 (GRCm39) |
Y241C |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Cdh19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00772:Cdh19
|
APN |
1 |
110,876,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00863:Cdh19
|
APN |
1 |
110,876,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01537:Cdh19
|
APN |
1 |
110,847,341 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02108:Cdh19
|
APN |
1 |
110,817,461 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02125:Cdh19
|
APN |
1 |
110,857,614 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02251:Cdh19
|
APN |
1 |
110,882,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02275:Cdh19
|
APN |
1 |
110,853,616 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL03203:Cdh19
|
APN |
1 |
110,817,828 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0539:Cdh19
|
UTSW |
1 |
110,852,892 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0594:Cdh19
|
UTSW |
1 |
110,853,597 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0612:Cdh19
|
UTSW |
1 |
110,820,900 (GRCm39) |
splice site |
probably benign |
|
|
R1028:Cdh19
|
UTSW |
1 |
110,882,314 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1627:Cdh19
|
UTSW |
1 |
110,847,375 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1728:Cdh19
|
UTSW |
1 |
110,821,114 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1729:Cdh19
|
UTSW |
1 |
110,821,114 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1730:Cdh19
|
UTSW |
1 |
110,821,114 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1739:Cdh19
|
UTSW |
1 |
110,821,114 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1762:Cdh19
|
UTSW |
1 |
110,821,114 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1783:Cdh19
|
UTSW |
1 |
110,821,114 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1785:Cdh19
|
UTSW |
1 |
110,821,114 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1974:Cdh19
|
UTSW |
1 |
110,817,889 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2119:Cdh19
|
UTSW |
1 |
110,847,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3026:Cdh19
|
UTSW |
1 |
110,882,418 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3037:Cdh19
|
UTSW |
1 |
110,882,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3612:Cdh19
|
UTSW |
1 |
110,821,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4254:Cdh19
|
UTSW |
1 |
110,852,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4368:Cdh19
|
UTSW |
1 |
110,817,442 (GRCm39) |
nonsense |
probably null |
|
|
R4624:Cdh19
|
UTSW |
1 |
110,859,981 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4648:Cdh19
|
UTSW |
1 |
110,852,907 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4720:Cdh19
|
UTSW |
1 |
110,823,111 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4766:Cdh19
|
UTSW |
1 |
110,820,990 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4937:Cdh19
|
UTSW |
1 |
110,817,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4968:Cdh19
|
UTSW |
1 |
110,852,958 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4970:Cdh19
|
UTSW |
1 |
110,882,354 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5095:Cdh19
|
UTSW |
1 |
110,882,391 (GRCm39) |
missense |
probably benign |
|
|
R5112:Cdh19
|
UTSW |
1 |
110,882,354 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5586:Cdh19
|
UTSW |
1 |
110,857,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6431:Cdh19
|
UTSW |
1 |
110,852,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6595:Cdh19
|
UTSW |
1 |
110,853,517 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6997:Cdh19
|
UTSW |
1 |
110,882,596 (GRCm39) |
start gained |
probably benign |
|
|
R7240:Cdh19
|
UTSW |
1 |
110,821,137 (GRCm39) |
missense |
probably benign |
|
|
R8252:Cdh19
|
UTSW |
1 |
110,817,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8299:Cdh19
|
UTSW |
1 |
110,847,278 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8416:Cdh19
|
UTSW |
1 |
110,853,610 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8766:Cdh19
|
UTSW |
1 |
110,817,844 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9090:Cdh19
|
UTSW |
1 |
110,876,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Cdh19
|
UTSW |
1 |
110,877,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9266:Cdh19
|
UTSW |
1 |
110,817,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9268:Cdh19
|
UTSW |
1 |
110,877,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9271:Cdh19
|
UTSW |
1 |
110,876,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9533:Cdh19
|
UTSW |
1 |
110,817,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9560:Cdh19
|
UTSW |
1 |
110,821,004 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9765:Cdh19
|
UTSW |
1 |
110,823,111 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Cdh19
|
UTSW |
1 |
110,859,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Cdh19
|
UTSW |
1 |
110,823,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cdh19
|
UTSW |
1 |
110,821,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation