Incidental Mutation 'R2121:Cdh1'
| ID |
231456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh1
|
| Ensembl Gene |
ENSMUSG00000000303 |
| Gene Name |
cadherin 1 |
| Synonyms |
Ecad, E-cadherin, uvomorulin, UM, E-cad, L-CAM |
| MMRRC Submission |
040125-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2121 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
107329983-107396878 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107390842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 653
(I653V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000312]
[ENSMUST00000167688]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000312
AA Change: I653V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000000312
Gene: ENSMUSG00000000303
AA Change: I653V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Cadherin_pro
|
29 |
118 |
3.42e-36 |
SMART |
|
low complexity region
|
123 |
131 |
N/A |
INTRINSIC |
|
CA
|
179 |
262 |
2.27e-14 |
SMART |
|
CA
|
286 |
375 |
3.18e-27 |
SMART |
|
CA
|
398 |
487 |
2e-10 |
SMART |
|
CA
|
510 |
595 |
1.49e-18 |
SMART |
|
Pfam:Cadherin
|
600 |
688 |
5.3e-11 |
PFAM |
|
transmembrane domain
|
711 |
733 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
734 |
881 |
1.3e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167688
AA Change: I653V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132112
Gene: ENSMUSG00000000303
AA Change: I653V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Cadherin_pro
|
29 |
118 |
3.42e-36 |
SMART |
|
low complexity region
|
123 |
131 |
N/A |
INTRINSIC |
|
CA
|
179 |
262 |
2.27e-14 |
SMART |
|
CA
|
286 |
375 |
3.18e-27 |
SMART |
|
CA
|
398 |
487 |
2e-10 |
SMART |
|
CA
|
510 |
595 |
1.49e-18 |
SMART |
|
Pfam:Cadherin
|
600 |
688 |
7.1e-10 |
PFAM |
|
transmembrane domain
|
711 |
733 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
738 |
880 |
3.9e-50 |
PFAM |
|
| Meta Mutation Damage Score |
0.0615 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
FUNCTION: This gene encodes E-cadherin, a calcium-dependent cell adhesion molecule that functions in the establishment and maintenance of epithelial cell morphology during embryongenesis and adulthood. The encoded preproprotein undergoes proteolytic processing to generate a mature protein. Targeted mutations disrupting binding of calcium to the encoded protein in mice cause death in utero due to failed blastocyst and trophectoderm formation. This gene is located adjacent to a related cadherin gene on chromosome 8. [provided by RefSeq, Oct 2015]
PHENOTYPE: In mutant homozygotes, adhesive cells of the morula dissociate shortly after initial compaction, probably due to depletion of maternal protein. Mutant embryos fail to form a trophectodermal epithelium or blastocyst cavity, and die near implantation time. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
T |
A |
17: 84,978,575 (GRCm39) |
E294D |
probably benign |
Het |
| Adnp2 |
A |
G |
18: 80,172,385 (GRCm39) |
F675L |
probably benign |
Het |
| Akna |
G |
A |
4: 63,295,137 (GRCm39) |
T1024I |
probably benign |
Het |
| Ambn |
T |
A |
5: 88,608,617 (GRCm39) |
|
probably benign |
Het |
| Aox3 |
T |
C |
1: 58,191,708 (GRCm39) |
|
probably benign |
Het |
| Arhgef10 |
A |
G |
8: 14,984,820 (GRCm39) |
D200G |
probably damaging |
Het |
| Arhgef26 |
A |
T |
3: 62,247,704 (GRCm39) |
N263Y |
probably damaging |
Het |
| Arpp21 |
A |
G |
9: 111,965,738 (GRCm39) |
S375P |
probably damaging |
Het |
| Bscl2 |
G |
T |
19: 8,817,146 (GRCm39) |
E25* |
probably null |
Het |
| Ccl12 |
T |
A |
11: 81,992,776 (GRCm39) |
S17R |
probably damaging |
Het |
| Ceacam9 |
T |
A |
7: 16,455,928 (GRCm39) |
F12I |
probably benign |
Het |
| Cfap47 |
T |
C |
X: 78,553,927 (GRCm39) |
I267V |
probably benign |
Het |
| Cldn23 |
A |
G |
8: 36,293,389 (GRCm39) |
V33A |
probably benign |
Het |
| Cog1 |
T |
C |
11: 113,540,424 (GRCm39) |
L13P |
probably damaging |
Het |
| Col20a1 |
G |
C |
2: 180,638,249 (GRCm39) |
A346P |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,738,087 (GRCm39) |
D537G |
probably damaging |
Het |
| Ctnnd2 |
G |
A |
15: 30,669,660 (GRCm39) |
R423H |
probably damaging |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
| Dcdc2a |
T |
G |
13: 25,303,268 (GRCm39) |
S266R |
possibly damaging |
Het |
| Diaph1 |
A |
T |
18: 38,029,442 (GRCm39) |
M330K |
unknown |
Het |
| Dnah5 |
C |
T |
15: 28,297,151 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
T |
A |
13: 37,209,653 (GRCm39) |
Y104F |
probably benign |
Het |
| Fam78b |
G |
A |
1: 166,906,278 (GRCm39) |
V146M |
probably damaging |
Het |
| Fancl |
G |
T |
11: 26,409,841 (GRCm39) |
|
probably benign |
Het |
| Gm10477 |
A |
G |
X: 55,570,192 (GRCm39) |
K31E |
probably damaging |
Het |
| Gstm7 |
T |
C |
3: 107,834,230 (GRCm39) |
M175V |
probably benign |
Het |
| Hcn4 |
T |
C |
9: 58,731,341 (GRCm39) |
S183P |
unknown |
Het |
| Heatr1 |
T |
C |
13: 12,418,145 (GRCm39) |
V359A |
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,157,233 (GRCm39) |
|
probably benign |
Het |
| Ints6l |
T |
A |
X: 55,550,228 (GRCm39) |
S718T |
probably benign |
Het |
| Kctd5 |
T |
C |
17: 24,274,940 (GRCm39) |
T212A |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,929,833 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,617,154 (GRCm39) |
V1031E |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,835,556 (GRCm39) |
Y1746C |
probably damaging |
Het |
| Mageb5 |
A |
G |
X: 90,823,701 (GRCm39) |
I226T |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 36,158,835 (GRCm39) |
A405V |
probably benign |
Het |
| Mlc1 |
A |
G |
15: 88,847,634 (GRCm39) |
Y305H |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,875,245 (GRCm39) |
E835G |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,580,612 (GRCm39) |
Y2474C |
unknown |
Het |
| Mybphl |
A |
C |
3: 108,282,492 (GRCm39) |
N175T |
probably damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,944,304 (GRCm39) |
V102A |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,154,076 (GRCm39) |
F2345S |
probably damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,506,357 (GRCm39) |
V766A |
probably benign |
Het |
| Odad4 |
T |
A |
11: 100,457,837 (GRCm39) |
|
probably null |
Het |
| Or7e173 |
T |
G |
9: 19,938,797 (GRCm39) |
I146L |
probably benign |
Het |
| Or8j3 |
T |
A |
2: 86,028,340 (GRCm39) |
Y252F |
possibly damaging |
Het |
| Palb2 |
T |
C |
7: 121,727,004 (GRCm39) |
T289A |
possibly damaging |
Het |
| Pde10a |
A |
T |
17: 9,196,047 (GRCm39) |
Q657L |
probably damaging |
Het |
| Ppp2r2a |
A |
T |
14: 67,260,577 (GRCm39) |
F234I |
probably damaging |
Het |
| Prl3c1 |
T |
A |
13: 27,383,325 (GRCm39) |
|
probably null |
Het |
| Psg20 |
T |
A |
7: 18,414,947 (GRCm39) |
Y316F |
probably benign |
Het |
| Sap18 |
T |
A |
14: 58,036,011 (GRCm39) |
S66T |
probably damaging |
Het |
| Serpina3m |
A |
G |
12: 104,355,941 (GRCm39) |
M203V |
possibly damaging |
Het |
| Slc6a21 |
A |
T |
7: 44,937,886 (GRCm39) |
I726F |
probably benign |
Het |
| Spmap2l |
A |
T |
5: 77,208,605 (GRCm39) |
I378L |
probably benign |
Het |
| Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
| Tfdp2 |
T |
C |
9: 96,177,067 (GRCm39) |
S75P |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,538,591 (GRCm39) |
E351G |
probably benign |
Het |
| Tmed11 |
G |
A |
5: 108,943,198 (GRCm39) |
|
probably benign |
Het |
| Tmem81 |
C |
A |
1: 132,435,847 (GRCm39) |
Q218K |
probably benign |
Het |
| Tnfsf11 |
G |
A |
14: 78,537,333 (GRCm39) |
T110I |
probably benign |
Het |
| Tub |
G |
A |
7: 108,625,944 (GRCm39) |
G232S |
probably damaging |
Het |
| Vmn2r121 |
A |
T |
X: 123,043,439 (GRCm39) |
|
probably null |
Het |
| Vwa5b1 |
T |
C |
4: 138,315,880 (GRCm39) |
T621A |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,259,356 (GRCm39) |
F501S |
possibly damaging |
Het |
|
| Other mutations in Cdh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01147:Cdh1
|
APN |
8 |
107,387,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01405:Cdh1
|
APN |
8 |
107,375,633 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01410:Cdh1
|
APN |
8 |
107,384,485 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01901:Cdh1
|
APN |
8 |
107,384,392 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02197:Cdh1
|
APN |
8 |
107,380,418 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02580:Cdh1
|
APN |
8 |
107,375,650 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02690:Cdh1
|
APN |
8 |
107,384,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02732:Cdh1
|
APN |
8 |
107,392,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02927:Cdh1
|
APN |
8 |
107,395,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Cdh1
|
UTSW |
8 |
107,383,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Cdh1
|
UTSW |
8 |
107,392,898 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1892:Cdh1
|
UTSW |
8 |
107,390,882 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2045:Cdh1
|
UTSW |
8 |
107,392,814 (GRCm39) |
splice site |
probably benign |
|
|
R2100:Cdh1
|
UTSW |
8 |
107,386,300 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2104:Cdh1
|
UTSW |
8 |
107,380,391 (GRCm39) |
splice site |
probably benign |
|
|
R2118:Cdh1
|
UTSW |
8 |
107,390,842 (GRCm39) |
missense |
probably benign |
|
|
R2124:Cdh1
|
UTSW |
8 |
107,390,842 (GRCm39) |
missense |
probably benign |
|
|
R2125:Cdh1
|
UTSW |
8 |
107,383,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2163:Cdh1
|
UTSW |
8 |
107,375,713 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2165:Cdh1
|
UTSW |
8 |
107,390,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2266:Cdh1
|
UTSW |
8 |
107,388,635 (GRCm39) |
missense |
probably benign |
|
|
R2761:Cdh1
|
UTSW |
8 |
107,380,481 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4547:Cdh1
|
UTSW |
8 |
107,390,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5131:Cdh1
|
UTSW |
8 |
107,390,430 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5767:Cdh1
|
UTSW |
8 |
107,395,187 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5931:Cdh1
|
UTSW |
8 |
107,392,964 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6254:Cdh1
|
UTSW |
8 |
107,390,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6397:Cdh1
|
UTSW |
8 |
107,330,922 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6888:Cdh1
|
UTSW |
8 |
107,384,946 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6928:Cdh1
|
UTSW |
8 |
107,387,642 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6995:Cdh1
|
UTSW |
8 |
107,387,545 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7110:Cdh1
|
UTSW |
8 |
107,395,176 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8069:Cdh1
|
UTSW |
8 |
107,384,405 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8260:Cdh1
|
UTSW |
8 |
107,330,979 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8387:Cdh1
|
UTSW |
8 |
107,390,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8762:Cdh1
|
UTSW |
8 |
107,386,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8881:Cdh1
|
UTSW |
8 |
107,392,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8888:Cdh1
|
UTSW |
8 |
107,330,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Cdh1
|
UTSW |
8 |
107,392,870 (GRCm39) |
small deletion |
probably benign |
|
|
R8929:Cdh1
|
UTSW |
8 |
107,392,870 (GRCm39) |
small deletion |
probably benign |
|
|
R8930:Cdh1
|
UTSW |
8 |
107,392,870 (GRCm39) |
small deletion |
probably benign |
|
|
R8932:Cdh1
|
UTSW |
8 |
107,392,870 (GRCm39) |
small deletion |
probably benign |
|
|
R9211:Cdh1
|
UTSW |
8 |
107,390,962 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9472:Cdh1
|
UTSW |
8 |
107,380,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9649:Cdh1
|
UTSW |
8 |
107,388,604 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1177:Cdh1
|
UTSW |
8 |
107,383,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCTGTCTTTAGAGAGGCTC -3'
(R):5'- TGGCAGGAACTTGCAATCC -3'
Sequencing Primer
(F):5'- TGATATCTGCCCCCGGTTC -3'
(R):5'- GCAATCCTGCTGCCACGATTC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation