Incidental Mutation 'R9765:Cdh19'
| ID |
733182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh19
|
| Ensembl Gene |
ENSMUSG00000047216 |
| Gene Name |
cadherin 19, type 2 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9765 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
110816056-110905314 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 110823111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094626]
|
| AlphaFold |
E9Q3A7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000094626
|
| SMART Domains |
Protein: ENSMUSP00000092210
Gene: ENSMUSG00000047216
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,404,829 (GRCm39) |
V25I |
probably benign |
Het |
| Actr1b |
T |
A |
1: 36,741,677 (GRCm39) |
H65L |
probably benign |
Het |
| Adgrf5 |
G |
A |
17: 43,748,491 (GRCm39) |
G440E |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,930,500 (GRCm39) |
D1992E |
probably damaging |
Het |
| Cacng4 |
A |
G |
11: 107,632,809 (GRCm39) |
F81S |
probably damaging |
Het |
| Cdca8 |
A |
G |
4: 124,814,122 (GRCm39) |
I223T |
probably benign |
Het |
| Ces2f |
A |
G |
8: 105,676,678 (GRCm39) |
D124G |
probably damaging |
Het |
| Cks1brt |
A |
G |
8: 85,898,234 (GRCm39) |
Y29C |
probably damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,484,110 (GRCm39) |
S388P |
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,568,496 (GRCm39) |
I844T |
probably damaging |
Het |
| Col4a3 |
G |
A |
1: 82,646,678 (GRCm39) |
W396* |
probably null |
Het |
| Cul9 |
A |
T |
17: 46,850,224 (GRCm39) |
S449T |
probably benign |
Het |
| Cux2 |
G |
A |
5: 122,007,195 (GRCm39) |
P822L |
probably benign |
Het |
| Cyp3a13 |
G |
C |
5: 137,909,883 (GRCm39) |
P147A |
probably damaging |
Het |
| Dennd2a |
C |
T |
6: 39,473,907 (GRCm39) |
|
probably null |
Het |
| Dgkg |
T |
C |
16: 22,298,157 (GRCm39) |
M743V |
possibly damaging |
Het |
| Dhx35 |
C |
T |
2: 158,671,501 (GRCm39) |
R311W |
probably benign |
Het |
| Dnase1l2 |
A |
T |
17: 24,660,049 (GRCm39) |
V273E |
probably damaging |
Het |
| Dock8 |
T |
G |
19: 25,146,832 (GRCm39) |
I1437S |
possibly damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,408,056 (GRCm39) |
D450G |
probably benign |
Het |
| Dsg4 |
G |
A |
18: 20,604,334 (GRCm39) |
V934I |
probably benign |
Het |
| Eef2 |
T |
A |
10: 81,015,010 (GRCm39) |
F236L |
possibly damaging |
Het |
| Eml4 |
A |
G |
17: 83,747,498 (GRCm39) |
I247V |
probably damaging |
Het |
| Evi5 |
A |
C |
5: 107,947,120 (GRCm39) |
C451G |
probably benign |
Het |
| Fam124a |
T |
G |
14: 62,824,883 (GRCm39) |
W126G |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 108,975,625 (GRCm39) |
I257T |
possibly damaging |
Het |
| Fn3krp |
A |
G |
11: 121,312,304 (GRCm39) |
K6E |
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,735,131 (GRCm39) |
W1149* |
probably null |
Het |
| Glud1 |
C |
T |
14: 34,060,795 (GRCm39) |
R453* |
probably null |
Het |
| Gtf2f1 |
G |
A |
17: 57,318,125 (GRCm39) |
|
probably benign |
Het |
| Gtpbp4 |
T |
A |
13: 9,024,994 (GRCm39) |
D532V |
probably benign |
Het |
| Ifnar2 |
G |
A |
16: 91,184,975 (GRCm39) |
R122H |
possibly damaging |
Het |
| Ift70b |
A |
T |
2: 75,768,467 (GRCm39) |
Y95* |
probably null |
Het |
| Ipo11 |
A |
G |
13: 107,061,556 (GRCm39) |
W35R |
probably damaging |
Het |
| Iqgap3 |
G |
A |
3: 88,017,361 (GRCm39) |
R1115Q |
possibly damaging |
Het |
| Kifc5b |
A |
G |
17: 27,142,239 (GRCm39) |
E239G |
probably damaging |
Het |
| Map3k7 |
A |
T |
4: 32,019,519 (GRCm39) |
E553D |
probably damaging |
Het |
| Mdh1 |
G |
T |
11: 21,512,926 (GRCm39) |
S146* |
probably null |
Het |
| Muc16 |
C |
A |
9: 18,548,494 (GRCm39) |
W5933L |
probably benign |
Het |
| Myo16 |
C |
A |
8: 10,620,401 (GRCm39) |
P1651T |
probably damaging |
Het |
| Naip5 |
C |
G |
13: 100,367,269 (GRCm39) |
A276P |
probably damaging |
Het |
| Noxo1 |
G |
T |
17: 24,915,386 (GRCm39) |
|
probably benign |
Het |
| Or4k49 |
T |
A |
2: 111,495,230 (GRCm39) |
Y220N |
probably benign |
Het |
| Pcdhgb6 |
A |
T |
18: 37,876,054 (GRCm39) |
N254I |
possibly damaging |
Het |
| Peli3 |
A |
T |
19: 4,991,850 (GRCm39) |
C30* |
probably null |
Het |
| Plb1 |
T |
A |
5: 32,512,731 (GRCm39) |
M1363K |
probably damaging |
Het |
| Ppp4r4 |
G |
T |
12: 103,550,346 (GRCm39) |
E257* |
probably null |
Het |
| Rbm20 |
T |
G |
19: 53,840,060 (GRCm39) |
S1016R |
probably benign |
Het |
| Rcn1 |
A |
T |
2: 105,225,026 (GRCm39) |
L143Q |
possibly damaging |
Het |
| Retreg1 |
G |
A |
15: 25,940,985 (GRCm39) |
G3D |
unknown |
Het |
| Rrm2 |
A |
G |
12: 24,758,956 (GRCm39) |
N65D |
probably benign |
Het |
| Samhd1 |
G |
T |
2: 156,965,219 (GRCm39) |
H199N |
probably damaging |
Het |
| Slain2 |
T |
A |
5: 73,114,969 (GRCm39) |
L400* |
probably null |
Het |
| Slc26a7 |
A |
T |
4: 14,522,862 (GRCm39) |
M486K |
probably benign |
Het |
| Slc30a4 |
A |
T |
2: 122,536,456 (GRCm39) |
Y133N |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,601,945 (GRCm39) |
F1439Y |
unknown |
Het |
| Srpra |
T |
C |
9: 35,122,670 (GRCm39) |
V29A |
possibly damaging |
Het |
| St3gal1 |
T |
C |
15: 66,981,499 (GRCm39) |
T226A |
possibly damaging |
Het |
| Tas2r136 |
T |
A |
6: 132,754,813 (GRCm39) |
I105F |
probably benign |
Het |
| Tmem208 |
A |
G |
8: 106,061,506 (GRCm39) |
*177W |
probably null |
Het |
| Utrn |
T |
A |
10: 12,610,921 (GRCm39) |
N478I |
probably damaging |
Het |
| Zbtb37 |
T |
C |
1: 160,859,432 (GRCm39) |
Y291C |
probably damaging |
Het |
| Zc3h3 |
T |
G |
15: 75,709,459 (GRCm39) |
H470P |
probably benign |
Het |
| Zfp40 |
A |
T |
17: 23,395,863 (GRCm39) |
Y241* |
probably null |
Het |
| Zfp457 |
T |
C |
13: 67,440,874 (GRCm39) |
N567S |
probably benign |
Het |
| Zfp458 |
C |
T |
13: 67,408,217 (GRCm39) |
V33M |
probably damaging |
Het |
| Zfp953 |
A |
T |
13: 67,491,478 (GRCm39) |
I158N |
possibly damaging |
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 |
|
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 |
|
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'- TAGAACCAGTGTCCTTCAAGTTC -3'
(R):5'- GAGGTCTGCAATATCCTTAATGATG -3'
Sequencing Primer
(F):5'- CAGTGTCCTTCAAGTTCATTTTGAG -3'
(R):5'- GTGCAATTGATAGAGATGAGTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation