Incidental Mutation 'R5095:Cdh19'
ID |
395800 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdh19
|
Ensembl Gene |
ENSMUSG00000047216 |
Gene Name |
cadherin 19, type 2 |
Synonyms |
|
MMRRC Submission |
042684-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5095 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
110816056-110905314 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 110882391 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 34
(T34S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092210
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094626]
|
AlphaFold |
E9Q3A7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094626
AA Change: T34S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000092210 Gene: ENSMUSG00000047216 AA Change: T34S
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187555
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194910
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
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 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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700021A07Rik |
G |
C |
10: 21,301,492 (GRCm39) |
|
noncoding transcript |
Het |
Adgrv1 |
C |
T |
13: 81,243,606 (GRCm39) |
V6265I |
probably benign |
Het |
Agbl1 |
G |
A |
7: 76,369,881 (GRCm39) |
G660D |
probably damaging |
Het |
Arap2 |
A |
G |
5: 62,811,392 (GRCm39) |
Y1140H |
probably damaging |
Het |
Atp6v1c1 |
T |
C |
15: 38,679,657 (GRCm39) |
|
probably null |
Het |
C1rb |
A |
T |
6: 124,557,272 (GRCm39) |
R470W |
possibly damaging |
Het |
Caskin2 |
T |
C |
11: 115,691,564 (GRCm39) |
T1074A |
probably benign |
Het |
Csnk1a1 |
T |
A |
18: 61,708,547 (GRCm39) |
Y175N |
probably damaging |
Het |
F2 |
CAGAAAG |
CAG |
2: 91,465,302 (GRCm39) |
|
probably benign |
Het |
Flt4 |
T |
A |
11: 49,517,986 (GRCm39) |
V342D |
possibly damaging |
Het |
Frmd5 |
A |
T |
2: 121,379,402 (GRCm39) |
C394S |
possibly damaging |
Het |
Gm5414 |
T |
G |
15: 101,532,473 (GRCm39) |
N550T |
probably benign |
Het |
Hcn3 |
C |
A |
3: 89,057,230 (GRCm39) |
R456L |
probably damaging |
Het |
Htt |
T |
C |
5: 34,981,739 (GRCm39) |
V893A |
possibly damaging |
Het |
Ift46 |
A |
G |
9: 44,698,146 (GRCm39) |
D203G |
probably damaging |
Het |
Itga10 |
G |
T |
3: 96,555,480 (GRCm39) |
V145L |
probably benign |
Het |
Kcnh6 |
A |
G |
11: 105,908,080 (GRCm39) |
D232G |
possibly damaging |
Het |
Mbtd1 |
T |
C |
11: 93,820,497 (GRCm39) |
S431P |
probably damaging |
Het |
Mmp27 |
T |
A |
9: 7,572,159 (GRCm39) |
W120R |
probably damaging |
Het |
Mmp27 |
A |
T |
9: 7,579,001 (GRCm39) |
D418V |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,059,302 (GRCm39) |
D510G |
probably damaging |
Het |
Myo5a |
A |
T |
9: 75,091,671 (GRCm39) |
K1179* |
probably null |
Het |
Neto1 |
T |
C |
18: 86,416,406 (GRCm39) |
S38P |
probably benign |
Het |
Nos3 |
A |
G |
5: 24,573,916 (GRCm39) |
|
probably benign |
Het |
Nuggc |
C |
T |
14: 65,872,539 (GRCm39) |
R512* |
probably null |
Het |
Oas1e |
T |
A |
5: 120,932,329 (GRCm39) |
K105* |
probably null |
Het |
Omd |
T |
A |
13: 49,743,174 (GRCm39) |
S75T |
possibly damaging |
Het |
Or10a3m |
T |
C |
7: 108,313,019 (GRCm39) |
F141S |
probably damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Pbrm1 |
A |
G |
14: 30,754,487 (GRCm39) |
N190S |
probably benign |
Het |
Picalm |
T |
C |
7: 89,819,841 (GRCm39) |
F85L |
probably damaging |
Het |
Polg |
A |
G |
7: 79,110,048 (GRCm39) |
V360A |
possibly damaging |
Het |
Prex1 |
T |
C |
2: 166,423,841 (GRCm39) |
D1017G |
probably damaging |
Het |
Prss56 |
G |
C |
1: 87,115,833 (GRCm39) |
R569P |
probably damaging |
Het |
Rab6b |
G |
A |
9: 103,017,583 (GRCm39) |
G25R |
probably damaging |
Het |
Rdh10 |
A |
G |
1: 16,201,609 (GRCm39) |
T332A |
probably benign |
Het |
Rheb |
A |
T |
5: 25,012,639 (GRCm39) |
M115K |
probably benign |
Het |
Rnf149 |
A |
T |
1: 39,594,737 (GRCm39) |
D321E |
probably benign |
Het |
Rps28 |
C |
T |
17: 34,042,177 (GRCm39) |
|
probably null |
Het |
Slc6a20b |
A |
G |
9: 123,424,119 (GRCm39) |
V616A |
probably benign |
Het |
Smarcc2 |
A |
G |
10: 128,305,169 (GRCm39) |
K300R |
probably damaging |
Het |
Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
Spata31h1 |
G |
T |
10: 82,119,501 (GRCm39) |
A4503E |
probably damaging |
Het |
Srp68 |
C |
T |
11: 116,139,573 (GRCm39) |
V459M |
probably damaging |
Het |
Stxbp4 |
C |
T |
11: 90,439,801 (GRCm39) |
V346I |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,999,600 (GRCm39) |
D2331G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,564,536 (GRCm39) |
Y28534N |
probably damaging |
Het |
Usp44 |
A |
T |
10: 93,682,707 (GRCm39) |
I386F |
possibly damaging |
Het |
Vmn2r15 |
T |
C |
5: 109,436,317 (GRCm39) |
|
probably null |
Het |
Vmn2r72 |
T |
A |
7: 85,387,061 (GRCm39) |
L834F |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,923,348 (GRCm39) |
I3741K |
probably damaging |
Het |
Zdbf2 |
A |
G |
1: 63,348,232 (GRCm39) |
T2204A |
possibly damaging |
Het |
Zfp607b |
T |
A |
7: 27,393,061 (GRCm39) |
|
probably benign |
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 |
IGL02234:Cdh19
|
APN |
1 |
110,859,956 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAAATCATCAGACTTTCCAAACC -3'
(R):5'- TTCCCACATTTTAGGAACATACAGG -3'
Sequencing Primer
(F):5'- TCAGACTTTCCAAACCAACTCACTTC -3'
(R):5'- TACAGGAGAATTGAGAAACAAACAC -3'
|
Posted On |
2016-06-21 |