Incidental Mutation 'IGL02894:Cdon'
| ID |
363356 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdon
|
| Ensembl Gene |
ENSMUSG00000038119 |
| Gene Name |
cell adhesion molecule-related/down-regulated by oncogenes |
| Synonyms |
CAM-related/down-regulated by oncogenes, CDO |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.351)
|
| Stock # |
IGL02894
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
35332836-35418948 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35366722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 199
(E199D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042842]
[ENSMUST00000119129]
[ENSMUST00000137200]
[ENSMUST00000151682]
[ENSMUST00000154652]
|
| AlphaFold |
Q32MD9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042842
AA Change: E199D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000045547
Gene: ENSMUSG00000038119
AA Change: E199D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IGc2
|
40 |
103 |
1.35e-9 |
SMART |
|
IG
|
125 |
212 |
7.25e-1 |
SMART |
|
IGc2
|
233 |
296 |
1.38e-6 |
SMART |
|
IGc2
|
323 |
386 |
4.62e-17 |
SMART |
|
IGc2
|
416 |
506 |
5e-13 |
SMART |
|
FN3
|
573 |
660 |
2.18e-2 |
SMART |
|
FN3
|
717 |
800 |
1.89e-11 |
SMART |
|
FN3
|
822 |
909 |
7.01e-6 |
SMART |
|
transmembrane domain
|
962 |
984 |
N/A |
INTRINSIC |
|
low complexity region
|
1101 |
1111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119129
AA Change: E199D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000113977
Gene: ENSMUSG00000038119
AA Change: E199D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IGc2
|
40 |
103 |
1.35e-9 |
SMART |
|
IG
|
125 |
212 |
7.25e-1 |
SMART |
|
IGc2
|
233 |
296 |
1.38e-6 |
SMART |
|
IGc2
|
323 |
386 |
4.62e-17 |
SMART |
|
IGc2
|
416 |
506 |
5e-13 |
SMART |
|
FN3
|
573 |
660 |
2.18e-2 |
SMART |
|
FN3
|
717 |
800 |
1.89e-11 |
SMART |
|
FN3
|
822 |
909 |
7.01e-6 |
SMART |
|
transmembrane domain
|
962 |
984 |
N/A |
INTRINSIC |
|
low complexity region
|
1101 |
1111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127264
|
| SMART Domains |
Protein: ENSMUSP00000115216
Gene: ENSMUSG00000038119
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
1 |
51 |
6.26e-5 |
SMART |
|
IG_like
|
18 |
62 |
1.06e2 |
SMART |
|
IGc2
|
81 |
134 |
6.45e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137200
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151682
|
| SMART Domains |
Protein: ENSMUSP00000119206
Gene: ENSMUSG00000038119
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
40 |
103 |
1.35e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154652
AA Change: E199D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000117499
Gene: ENSMUSG00000038119
AA Change: E199D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IGc2
|
40 |
103 |
1.35e-9 |
SMART |
|
IG
|
125 |
212 |
7.25e-1 |
SMART |
|
IGc2
|
233 |
296 |
1.38e-6 |
SMART |
|
IGc2
|
323 |
386 |
4.62e-17 |
SMART |
|
IGc2
|
416 |
506 |
5e-13 |
SMART |
|
FN3
|
573 |
660 |
2.18e-2 |
SMART |
|
| 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 encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice display facial defects characteristic of microform holoprosencephaly, are runted, and are prone to death prior to weaning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630023A22Rik |
T |
A |
14: 33,776,817 (GRCm39) |
|
probably benign |
Het |
| Aurka |
T |
A |
2: 172,208,868 (GRCm39) |
|
probably null |
Het |
| Cacna2d3 |
C |
T |
14: 28,786,276 (GRCm39) |
|
probably null |
Het |
| Cdh12 |
A |
G |
15: 21,586,380 (GRCm39) |
Y733C |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,302,526 (GRCm39) |
L558Q |
probably damaging |
Het |
| Clcnkb |
C |
A |
4: 141,135,130 (GRCm39) |
R536L |
probably benign |
Het |
| Cyp3a11 |
G |
A |
5: 145,805,836 (GRCm39) |
Q151* |
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,616,487 (GRCm39) |
V1158E |
probably benign |
Het |
| Dnah8 |
G |
T |
17: 30,940,084 (GRCm39) |
E1677* |
probably null |
Het |
| Dock3 |
T |
C |
9: 106,807,298 (GRCm39) |
N1343S |
probably benign |
Het |
| Dock6 |
T |
A |
9: 21,723,111 (GRCm39) |
E1603D |
probably damaging |
Het |
| Fam91a1 |
C |
T |
15: 58,315,080 (GRCm39) |
T589M |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,147,479 (GRCm39) |
N3921I |
probably damaging |
Het |
| Gm10188 |
A |
G |
1: 132,157,037 (GRCm39) |
|
probably benign |
Het |
| Grid2ip |
A |
G |
5: 143,376,863 (GRCm39) |
E976G |
probably benign |
Het |
| Hapln3 |
G |
T |
7: 78,771,521 (GRCm39) |
Q123K |
probably benign |
Het |
| Hnrnpul1 |
G |
A |
7: 25,450,329 (GRCm39) |
P128S |
possibly damaging |
Het |
| Hsd3b1 |
T |
A |
3: 98,760,245 (GRCm39) |
I249F |
possibly damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,331,444 (GRCm39) |
H606L |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,451,155 (GRCm39) |
Y418C |
probably damaging |
Het |
| Mcm3ap |
C |
A |
10: 76,313,601 (GRCm39) |
A565E |
probably benign |
Het |
| Minar1 |
T |
G |
9: 89,485,155 (GRCm39) |
I81L |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,297,505 (GRCm39) |
S844P |
probably damaging |
Het |
| Naip2 |
C |
T |
13: 100,320,297 (GRCm39) |
V240I |
probably benign |
Het |
| Notch2 |
T |
A |
3: 98,009,748 (GRCm39) |
C558* |
probably null |
Het |
| Npdc1 |
T |
A |
2: 25,298,007 (GRCm39) |
H185Q |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,451 (GRCm39) |
|
probably benign |
Het |
| Or4c31 |
T |
G |
2: 88,292,070 (GRCm39) |
Y148D |
probably damaging |
Het |
| Or5d37 |
T |
C |
2: 87,924,107 (GRCm39) |
I58V |
possibly damaging |
Het |
| Osbpl3 |
A |
T |
6: 50,323,312 (GRCm39) |
I257N |
possibly damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,740,630 (GRCm39) |
T2156S |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,797,888 (GRCm39) |
|
probably benign |
Het |
| Ppp3ca |
C |
A |
3: 136,503,573 (GRCm39) |
H49N |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,505,626 (GRCm39) |
L1100I |
probably damaging |
Het |
| Ptpn21 |
A |
C |
12: 98,655,891 (GRCm39) |
|
probably benign |
Het |
| Ptpn7 |
A |
T |
1: 135,070,906 (GRCm39) |
M332L |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,503,285 (GRCm39) |
Q791L |
probably benign |
Het |
| Ptprz1 |
G |
A |
6: 23,035,148 (GRCm39) |
R1966H |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,763,854 (GRCm39) |
Q1404L |
possibly damaging |
Het |
| Reln |
C |
A |
5: 22,090,546 (GRCm39) |
M3437I |
possibly damaging |
Het |
| S100a7l2 |
A |
T |
3: 90,995,700 (GRCm39) |
F67L |
probably benign |
Het |
| Slc13a1 |
T |
C |
6: 24,137,041 (GRCm39) |
|
probably benign |
Het |
| Slc4a11 |
T |
C |
2: 130,529,075 (GRCm39) |
|
probably null |
Het |
| Slc9a2 |
A |
G |
1: 40,802,762 (GRCm39) |
E604G |
probably benign |
Het |
| Sod3 |
T |
G |
5: 52,525,348 (GRCm39) |
S16A |
possibly damaging |
Het |
| Taok3 |
A |
G |
5: 117,401,678 (GRCm39) |
I650V |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,319,211 (GRCm39) |
I270M |
probably damaging |
Het |
| Ugt3a1 |
T |
A |
15: 9,367,487 (GRCm39) |
I410N |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,184,043 (GRCm39) |
S1449N |
probably damaging |
Het |
| Usp29 |
A |
T |
7: 6,964,633 (GRCm39) |
M159L |
probably benign |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,649 (GRCm39) |
F135L |
probably benign |
Het |
| Wdr11 |
T |
C |
7: 129,232,890 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
T |
A |
12: 98,725,202 (GRCm39) |
|
probably null |
Het |
| Zfp955a |
A |
T |
17: 33,461,426 (GRCm39) |
C235* |
probably null |
Het |
|
| Other mutations in Cdon |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00832:Cdon
|
APN |
9 |
35,389,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01307:Cdon
|
APN |
9 |
35,368,860 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01528:Cdon
|
APN |
9 |
35,381,403 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01663:Cdon
|
APN |
9 |
35,394,510 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL01723:Cdon
|
APN |
9 |
35,414,634 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02200:Cdon
|
APN |
9 |
35,394,405 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02444:Cdon
|
APN |
9 |
35,384,744 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02547:Cdon
|
APN |
9 |
35,389,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02620:Cdon
|
APN |
9 |
35,364,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02861:Cdon
|
APN |
9 |
35,398,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03153:Cdon
|
APN |
9 |
35,389,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03206:Cdon
|
APN |
9 |
35,414,602 (GRCm39) |
missense |
probably benign |
|
|
IGL03374:Cdon
|
APN |
9 |
35,389,299 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
corleone
|
UTSW |
9 |
35,398,252 (GRCm39) |
nonsense |
probably null |
|
|
indentured
|
UTSW |
9 |
35,363,402 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
Molar
|
UTSW |
9 |
35,375,191 (GRCm39) |
missense |
probably benign |
0.15 |
|
Servitude
|
UTSW |
9 |
35,388,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4280001:Cdon
|
UTSW |
9 |
35,398,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Cdon
|
UTSW |
9 |
35,398,103 (GRCm39) |
missense |
probably benign |
|
|
R0045:Cdon
|
UTSW |
9 |
35,398,103 (GRCm39) |
missense |
probably benign |
|
|
R0064:Cdon
|
UTSW |
9 |
35,400,523 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0396:Cdon
|
UTSW |
9 |
35,381,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0403:Cdon
|
UTSW |
9 |
35,384,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0490:Cdon
|
UTSW |
9 |
35,363,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0547:Cdon
|
UTSW |
9 |
35,368,794 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0609:Cdon
|
UTSW |
9 |
35,389,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0645:Cdon
|
UTSW |
9 |
35,388,379 (GRCm39) |
splice site |
probably null |
|
|
R0781:Cdon
|
UTSW |
9 |
35,367,733 (GRCm39) |
splice site |
probably benign |
|
|
R1110:Cdon
|
UTSW |
9 |
35,367,733 (GRCm39) |
splice site |
probably benign |
|
|
R1391:Cdon
|
UTSW |
9 |
35,415,485 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1574:Cdon
|
UTSW |
9 |
35,364,233 (GRCm39) |
splice site |
probably benign |
|
|
R1851:Cdon
|
UTSW |
9 |
35,394,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2031:Cdon
|
UTSW |
9 |
35,415,370 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2230:Cdon
|
UTSW |
9 |
35,403,222 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3683:Cdon
|
UTSW |
9 |
35,400,328 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3684:Cdon
|
UTSW |
9 |
35,400,328 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3685:Cdon
|
UTSW |
9 |
35,400,328 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3941:Cdon
|
UTSW |
9 |
35,375,467 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4030:Cdon
|
UTSW |
9 |
35,403,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4084:Cdon
|
UTSW |
9 |
35,389,427 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4462:Cdon
|
UTSW |
9 |
35,368,876 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4569:Cdon
|
UTSW |
9 |
35,388,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4677:Cdon
|
UTSW |
9 |
35,389,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4869:Cdon
|
UTSW |
9 |
35,364,200 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5032:Cdon
|
UTSW |
9 |
35,400,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5047:Cdon
|
UTSW |
9 |
35,389,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5214:Cdon
|
UTSW |
9 |
35,394,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5341:Cdon
|
UTSW |
9 |
35,381,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5410:Cdon
|
UTSW |
9 |
35,381,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5581:Cdon
|
UTSW |
9 |
35,415,377 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5696:Cdon
|
UTSW |
9 |
35,403,162 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5757:Cdon
|
UTSW |
9 |
35,364,068 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5802:Cdon
|
UTSW |
9 |
35,365,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5845:Cdon
|
UTSW |
9 |
35,368,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5949:Cdon
|
UTSW |
9 |
35,398,247 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6106:Cdon
|
UTSW |
9 |
35,366,704 (GRCm39) |
nonsense |
probably null |
|
|
R6245:Cdon
|
UTSW |
9 |
35,388,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6845:Cdon
|
UTSW |
9 |
35,398,252 (GRCm39) |
nonsense |
probably null |
|
|
R6896:Cdon
|
UTSW |
9 |
35,363,402 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7060:Cdon
|
UTSW |
9 |
35,398,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7076:Cdon
|
UTSW |
9 |
35,415,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7184:Cdon
|
UTSW |
9 |
35,375,191 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7382:Cdon
|
UTSW |
9 |
35,389,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7763:Cdon
|
UTSW |
9 |
35,365,711 (GRCm39) |
nonsense |
probably null |
|
|
R7857:Cdon
|
UTSW |
9 |
35,367,908 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7885:Cdon
|
UTSW |
9 |
35,367,818 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7894:Cdon
|
UTSW |
9 |
35,388,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7984:Cdon
|
UTSW |
9 |
35,414,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8287:Cdon
|
UTSW |
9 |
35,375,225 (GRCm39) |
missense |
probably benign |
|
|
R8428:Cdon
|
UTSW |
9 |
35,403,163 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8519:Cdon
|
UTSW |
9 |
35,389,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8698:Cdon
|
UTSW |
9 |
35,398,269 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8797:Cdon
|
UTSW |
9 |
35,389,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8995:Cdon
|
UTSW |
9 |
35,398,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9090:Cdon
|
UTSW |
9 |
35,403,175 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9177:Cdon
|
UTSW |
9 |
35,381,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9200:Cdon
|
UTSW |
9 |
35,414,617 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9271:Cdon
|
UTSW |
9 |
35,403,175 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9330:Cdon
|
UTSW |
9 |
35,400,275 (GRCm39) |
nonsense |
probably null |
|
|
R9477:Cdon
|
UTSW |
9 |
35,403,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9612:Cdon
|
UTSW |
9 |
35,398,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9730:Cdon
|
UTSW |
9 |
35,398,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Cdon
|
UTSW |
9 |
35,403,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation