Incidental Mutation 'R5912:Cdh2'
| ID |
461084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh2
|
| Ensembl Gene |
ENSMUSG00000024304 |
| Gene Name |
cadherin 2 |
| Synonyms |
N-CAD, N-cadherin, Ncad |
| MMRRC Submission |
044109-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5912 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
16721934-16942303 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 16773507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 331
(I331S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025166]
[ENSMUST00000115850]
|
| AlphaFold |
P15116 |
| PDB Structure |
STRUCTURAL BASIS OF CELL-CELL ADHESION BY CADHERINS [X-RAY DIFFRACTION]
STRUCTURAL BASIS OF CELL-CELL ADHESION BY CADHERINS [X-RAY DIFFRACTION]
STRUCTURAL BASIS OF CELL-CELL ADHESION BY CADHERINS [X-RAY DIFFRACTION]
N-CADHERIN, TWO-DOMAIN FRAGMENT [X-RAY DIFFRACTION]
Solution Structure of Neural Cadherin Prodomain [SOLUTION NMR]
Crystal structure of N-cadherin domains EC12 [X-RAY DIFFRACTION]
Crystal structure of mouse N-cadherin ectodomain [X-RAY DIFFRACTION]
Crystal structure of mouse N-cadherin EC1-2 A78SI92M [X-RAY DIFFRACTION]
Crystal structure of mouse N-cadherin EC1-2 with AA insertion between residues 2 and 3 [X-RAY DIFFRACTION]
Crystal structure of mouse N-cadherin EC1-2 W2F [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025166
AA Change: I331S
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000025166
Gene: ENSMUSG00000024304
AA Change: I331S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
Cadherin_pro
|
31 |
123 |
5.77e-34 |
SMART |
|
low complexity region
|
129 |
141 |
N/A |
INTRINSIC |
|
CA
|
182 |
265 |
3.37e-17 |
SMART |
|
CA
|
289 |
380 |
2.15e-33 |
SMART |
|
CA
|
403 |
496 |
4.38e-16 |
SMART |
|
CA
|
519 |
603 |
2.27e-23 |
SMART |
|
CA
|
623 |
708 |
5.54e-2 |
SMART |
|
transmembrane domain
|
724 |
746 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
753 |
903 |
6.3e-54 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115850
AA Change: I274S
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000111516
Gene: ENSMUSG00000024304
AA Change: I274S
| Domain | Start | End | E-Value | Type |
|---|
|
Cadherin_pro
|
1 |
66 |
3.44e-9 |
SMART |
|
low complexity region
|
72 |
84 |
N/A |
INTRINSIC |
|
CA
|
125 |
208 |
3.37e-17 |
SMART |
|
CA
|
232 |
323 |
2.15e-33 |
SMART |
|
CA
|
346 |
439 |
4.38e-16 |
SMART |
|
CA
|
462 |
546 |
2.27e-23 |
SMART |
|
CA
|
566 |
651 |
5.54e-2 |
SMART |
|
transmembrane domain
|
667 |
689 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
690 |
847 |
2.5e-57 |
PFAM |
|
| Meta Mutation Damage Score |
0.3128 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion. The encoded preproprotein undergoes proteolytic processing to generate a mature protein. Mice lacking the encoded protein exhibit severe developmental defects resulting in embryonic death. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutation of this gene results in death by E10. Mutant embryos exhibit several developmental abnormalities such as growth retardation, an enlarged heart, distended pericardial sacs, abnormal heart tube, wavy neural tube, irregular somite shape,and abnormal embryo turning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,839,897 (GRCm39) |
C166S |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,989,267 (GRCm39) |
M3517K |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,256,344 (GRCm39) |
V214A |
probably damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,275,389 (GRCm39) |
V365A |
probably benign |
Het |
| Bivm |
G |
T |
1: 44,165,573 (GRCm39) |
G8* |
probably null |
Het |
| Cc2d2a |
A |
C |
5: 43,877,772 (GRCm39) |
D1043A |
probably damaging |
Het |
| Clip3 |
A |
C |
7: 29,998,295 (GRCm39) |
D247A |
probably benign |
Het |
| Csf3r |
A |
T |
4: 125,923,753 (GRCm39) |
I88F |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,945,079 (GRCm39) |
N316K |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,491,965 (GRCm39) |
C1133* |
probably null |
Het |
| Glud1 |
G |
A |
14: 34,033,300 (GRCm39) |
|
probably null |
Het |
| Gm5805 |
A |
G |
15: 81,857,018 (GRCm39) |
|
noncoding transcript |
Het |
| Gsg1l2 |
G |
T |
11: 67,665,540 (GRCm39) |
|
probably null |
Het |
| Ikzf1 |
C |
A |
11: 11,698,464 (GRCm39) |
S105* |
probably null |
Het |
| Kif18b |
A |
G |
11: 102,803,817 (GRCm39) |
S448P |
probably benign |
Het |
| Klhl31 |
C |
A |
9: 77,563,012 (GRCm39) |
N592K |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,552,467 (GRCm39) |
F1239L |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,837,268 (GRCm39) |
Y1014H |
probably damaging |
Het |
| Macf1 |
A |
C |
4: 123,290,951 (GRCm39) |
L3980R |
probably damaging |
Het |
| Magi1 |
A |
T |
6: 93,685,126 (GRCm39) |
S524T |
possibly damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,722 (GRCm39) |
Y308N |
probably damaging |
Het |
| Or1e33 |
A |
C |
11: 73,738,501 (GRCm39) |
I150R |
possibly damaging |
Het |
| Or3a1c |
A |
T |
11: 74,046,046 (GRCm39) |
E22V |
possibly damaging |
Het |
| Rfx5 |
G |
A |
3: 94,866,029 (GRCm39) |
|
probably benign |
Het |
| Scn1b |
C |
T |
7: 30,817,228 (GRCm39) |
V165M |
probably damaging |
Het |
| Sema4c |
A |
C |
1: 36,593,469 (GRCm39) |
V41G |
possibly damaging |
Het |
| Serpini1 |
G |
T |
3: 75,523,914 (GRCm39) |
G174V |
probably benign |
Het |
| Sh2b1 |
T |
C |
7: 126,070,642 (GRCm39) |
E353G |
probably damaging |
Het |
| Slc7a6 |
G |
T |
8: 106,906,289 (GRCm39) |
V174L |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,753,809 (GRCm39) |
|
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,935,251 (GRCm39) |
N21D |
probably damaging |
Het |
| Spdye4c |
C |
T |
2: 128,437,994 (GRCm39) |
R245* |
probably null |
Het |
| Sulf1 |
A |
G |
1: 12,856,976 (GRCm39) |
|
probably benign |
Het |
| Swt1 |
A |
G |
1: 151,287,160 (GRCm39) |
S111P |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 75,955,721 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
T |
C |
2: 59,622,030 (GRCm39) |
V383A |
possibly damaging |
Het |
| Tbc1d10b |
G |
T |
7: 126,799,033 (GRCm39) |
A491E |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,686,877 (GRCm39) |
T132A |
probably damaging |
Het |
| Traf3 |
A |
G |
12: 111,221,783 (GRCm39) |
I290V |
probably benign |
Het |
| Traf5 |
A |
G |
1: 191,730,030 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,640,687 (GRCm39) |
I13687N |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,494,767 (GRCm39) |
D415G |
probably damaging |
Het |
| Ust |
A |
G |
10: 8,173,825 (GRCm39) |
Y227H |
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,752,071 (GRCm39) |
N705D |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,214,250 (GRCm39) |
E1444G |
probably damaging |
Het |
| Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
| Zbtb5 |
A |
G |
4: 44,993,750 (GRCm39) |
S545P |
probably benign |
Het |
| Zfp710 |
A |
G |
7: 79,731,222 (GRCm39) |
D133G |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,218,934 (GRCm39) |
C229S |
probably benign |
Het |
|
| Other mutations in Cdh2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00517:Cdh2
|
APN |
18 |
16,760,693 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01560:Cdh2
|
APN |
18 |
16,783,495 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02028:Cdh2
|
APN |
18 |
16,783,477 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02227:Cdh2
|
APN |
18 |
16,762,643 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02229:Cdh2
|
APN |
18 |
16,757,810 (GRCm39) |
missense |
probably benign |
|
|
IGL02617:Cdh2
|
APN |
18 |
16,760,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02685:Cdh2
|
APN |
18 |
16,779,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02724:Cdh2
|
APN |
18 |
16,762,537 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0111:Cdh2
|
UTSW |
18 |
16,907,566 (GRCm39) |
missense |
probably benign |
|
|
R0173:Cdh2
|
UTSW |
18 |
16,783,314 (GRCm39) |
splice site |
probably benign |
|
|
R0197:Cdh2
|
UTSW |
18 |
16,762,633 (GRCm39) |
missense |
probably benign |
|
|
R0563:Cdh2
|
UTSW |
18 |
16,762,738 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0883:Cdh2
|
UTSW |
18 |
16,762,633 (GRCm39) |
missense |
probably benign |
|
|
R1083:Cdh2
|
UTSW |
18 |
16,777,016 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1270:Cdh2
|
UTSW |
18 |
16,760,614 (GRCm39) |
splice site |
probably benign |
|
|
R1469:Cdh2
|
UTSW |
18 |
16,757,324 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1469:Cdh2
|
UTSW |
18 |
16,757,324 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1510:Cdh2
|
UTSW |
18 |
16,781,651 (GRCm39) |
missense |
probably benign |
|
|
R1875:Cdh2
|
UTSW |
18 |
16,757,934 (GRCm39) |
missense |
probably benign |
|
|
R2122:Cdh2
|
UTSW |
18 |
16,907,600 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2194:Cdh2
|
UTSW |
18 |
16,773,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2254:Cdh2
|
UTSW |
18 |
16,776,985 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4471:Cdh2
|
UTSW |
18 |
16,907,533 (GRCm39) |
splice site |
probably null |
|
|
R4501:Cdh2
|
UTSW |
18 |
16,762,642 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4620:Cdh2
|
UTSW |
18 |
16,781,665 (GRCm39) |
missense |
probably benign |
|
|
R4832:Cdh2
|
UTSW |
18 |
16,760,754 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4944:Cdh2
|
UTSW |
18 |
16,783,466 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4958:Cdh2
|
UTSW |
18 |
16,760,622 (GRCm39) |
splice site |
probably null |
|
|
R5160:Cdh2
|
UTSW |
18 |
16,762,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5190:Cdh2
|
UTSW |
18 |
16,783,372 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5446:Cdh2
|
UTSW |
18 |
16,779,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5552:Cdh2
|
UTSW |
18 |
16,773,520 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5699:Cdh2
|
UTSW |
18 |
16,779,579 (GRCm39) |
nonsense |
probably null |
|
|
R5949:Cdh2
|
UTSW |
18 |
16,734,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:Cdh2
|
UTSW |
18 |
16,907,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6633:Cdh2
|
UTSW |
18 |
16,773,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7822:Cdh2
|
UTSW |
18 |
16,757,341 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8022:Cdh2
|
UTSW |
18 |
16,723,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8142:Cdh2
|
UTSW |
18 |
16,734,791 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8152:Cdh2
|
UTSW |
18 |
16,762,576 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8188:Cdh2
|
UTSW |
18 |
16,781,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8461:Cdh2
|
UTSW |
18 |
16,783,522 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8491:Cdh2
|
UTSW |
18 |
16,757,775 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9246:Cdh2
|
UTSW |
18 |
16,781,654 (GRCm39) |
nonsense |
probably null |
|
|
R9477:Cdh2
|
UTSW |
18 |
16,755,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9530:Cdh2
|
UTSW |
18 |
16,783,466 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9581:Cdh2
|
UTSW |
18 |
16,803,112 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAACAGGAGAGTATTGGCTTAAC -3'
(R):5'- AGTTTAGGGGCCCTGAAATG -3'
Sequencing Primer
(F):5'- CTTAGTCAAATATCGCCGAGGC -3'
(R):5'- TTTAGGGGCCCTGAAATGACAATC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation