Incidental Mutation 'R8519:Cdon'
| ID |
658539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdon
|
| Ensembl Gene |
ENSMUSG00000038119 |
| Gene Name |
cell adhesion molecule-related/down-regulated by oncogenes |
| Synonyms |
CAM-related/down-regulated by oncogenes, CDO |
| MMRRC Submission |
067946-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.351)
|
| Stock # |
R8519 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
35332836-35418948 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35389950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 868
(D868G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042842]
[ENSMUST00000119129]
|
| AlphaFold |
Q32MD9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042842
AA Change: D868G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045547
Gene: ENSMUSG00000038119
AA Change: D868G
| 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 |
noncoding transcript
Transcript: ENSMUST00000084000
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119129
AA Change: D868G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113977
Gene: ENSMUSG00000038119
AA Change: D868G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (67/67) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
T |
C |
10: 61,038,619 (GRCm39) |
T964A |
possibly damaging |
Het |
| Adamts7 |
G |
A |
9: 90,075,610 (GRCm39) |
W1156* |
probably null |
Het |
| Adcy9 |
T |
C |
16: 4,105,992 (GRCm39) |
I1041V |
possibly damaging |
Het |
| Armh4 |
T |
C |
14: 50,010,693 (GRCm39) |
D338G |
probably damaging |
Het |
| Art4 |
C |
A |
6: 136,831,349 (GRCm39) |
|
probably null |
Het |
| Bcl9 |
A |
G |
3: 97,116,334 (GRCm39) |
S787P |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,952,590 (GRCm39) |
T2088A |
probably damaging |
Het |
| Cdc45 |
T |
C |
16: 18,627,597 (GRCm39) |
N76S |
probably damaging |
Het |
| Cldn10 |
T |
G |
14: 119,092,439 (GRCm39) |
V13G |
probably benign |
Het |
| Cnot6 |
G |
T |
11: 49,575,941 (GRCm39) |
Q178K |
probably benign |
Het |
| Crot |
T |
C |
5: 9,023,629 (GRCm39) |
I420V |
probably benign |
Het |
| Csgalnact1 |
T |
A |
8: 68,854,105 (GRCm39) |
H232L |
possibly damaging |
Het |
| Cuzd1 |
T |
C |
7: 130,910,626 (GRCm39) |
I556M |
possibly damaging |
Het |
| Cyp2c54 |
G |
A |
19: 40,026,857 (GRCm39) |
R433W |
probably damaging |
Het |
| Cyp2j11 |
A |
G |
4: 96,207,539 (GRCm39) |
F259L |
probably benign |
Het |
| Dhx9 |
C |
T |
1: 153,348,922 (GRCm39) |
G264R |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,299,245 (GRCm39) |
V1536M |
probably benign |
Het |
| Erlin1 |
T |
A |
19: 44,058,041 (GRCm39) |
|
probably benign |
Het |
| Foxb2 |
C |
A |
19: 16,850,347 (GRCm39) |
V220L |
possibly damaging |
Het |
| Gigyf2 |
A |
T |
1: 87,338,431 (GRCm39) |
T388S |
probably benign |
Het |
| Gimap5 |
T |
C |
6: 48,730,068 (GRCm39) |
C213R |
probably benign |
Het |
| Gkap1 |
T |
G |
13: 58,386,506 (GRCm39) |
K57N |
probably damaging |
Het |
| H60b |
T |
G |
10: 22,159,421 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
C |
T |
5: 121,442,489 (GRCm39) |
R670* |
probably null |
Het |
| Hoxc9 |
A |
G |
15: 102,892,341 (GRCm39) |
N185D |
probably damaging |
Het |
| Igkv1-117 |
A |
G |
6: 68,098,766 (GRCm39) |
E105G |
possibly damaging |
Het |
| Klk10 |
T |
A |
7: 43,432,239 (GRCm39) |
Y57* |
probably null |
Het |
| Lrrc63 |
A |
T |
14: 75,363,312 (GRCm39) |
I273K |
possibly damaging |
Het |
| M6pr |
T |
C |
6: 122,292,025 (GRCm39) |
I119T |
probably damaging |
Het |
| Mael |
T |
C |
1: 166,063,127 (GRCm39) |
|
probably null |
Het |
| Magi1 |
A |
G |
6: 93,681,330 (GRCm39) |
S574P |
possibly damaging |
Het |
| Man2c1 |
A |
G |
9: 57,044,061 (GRCm39) |
D291G |
probably benign |
Het |
| Mapk1ip1l |
A |
T |
14: 47,547,920 (GRCm39) |
|
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,238,132 (GRCm39) |
T1135A |
possibly damaging |
Het |
| Mrpl39 |
A |
G |
16: 84,527,736 (GRCm39) |
V164A |
probably benign |
Het |
| Mynn |
C |
A |
3: 30,661,290 (GRCm39) |
P124H |
probably damaging |
Het |
| Or11l3 |
T |
G |
11: 58,516,800 (GRCm39) |
Q23P |
probably damaging |
Het |
| Or14n1-ps1 |
A |
T |
7: 86,093,062 (GRCm39) |
N291I |
probably damaging |
Het |
| Or2k2 |
A |
G |
4: 58,785,203 (GRCm39) |
I173T |
probably damaging |
Het |
| Or2t48 |
A |
G |
11: 58,420,329 (GRCm39) |
F161S |
possibly damaging |
Het |
| Or6k2 |
A |
G |
1: 173,986,614 (GRCm39) |
I92V |
probably damaging |
Het |
| Pcif1 |
A |
G |
2: 164,726,303 (GRCm39) |
N68S |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,728,976 (GRCm39) |
N649K |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,740,432 (GRCm39) |
Q263R |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,476,266 (GRCm39) |
I1162N |
probably damaging |
Het |
| Pnp2 |
T |
A |
14: 51,201,842 (GRCm39) |
L276Q |
probably damaging |
Het |
| Sirpb1c |
T |
A |
3: 15,902,526 (GRCm39) |
I18F |
possibly damaging |
Het |
| Slc2a12 |
A |
T |
10: 22,540,678 (GRCm39) |
M178L |
probably damaging |
Het |
| Slc35c1 |
G |
T |
2: 92,285,052 (GRCm39) |
F187L |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,770,982 (GRCm39) |
|
probably benign |
Het |
| Spmip6 |
A |
G |
4: 41,505,071 (GRCm39) |
S214P |
possibly damaging |
Het |
| Spopfm2 |
T |
C |
3: 94,083,497 (GRCm39) |
M105V |
probably benign |
Het |
| Stn1 |
T |
C |
19: 47,490,111 (GRCm39) |
H342R |
probably benign |
Het |
| Sult1c2 |
A |
T |
17: 54,276,709 (GRCm39) |
H117Q |
probably damaging |
Het |
| Thap1 |
G |
A |
8: 26,650,925 (GRCm39) |
R42K |
probably damaging |
Het |
| Tpp2 |
A |
T |
1: 44,016,365 (GRCm39) |
|
probably null |
Het |
| Trib2 |
G |
T |
12: 15,865,347 (GRCm39) |
P76Q |
probably damaging |
Het |
| Ttc24 |
G |
T |
3: 87,980,369 (GRCm39) |
Q111K |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,143,958 (GRCm39) |
S1401P |
probably damaging |
Het |
| Uggt1 |
A |
C |
1: 36,215,724 (GRCm39) |
|
probably null |
Het |
| Ugt2b1 |
A |
G |
5: 87,074,326 (GRCm39) |
L11S |
probably damaging |
Het |
| Uso1 |
T |
G |
5: 92,343,222 (GRCm39) |
S769A |
probably benign |
Het |
| Vmn2r117 |
T |
C |
17: 23,698,442 (GRCm39) |
T44A |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,489,347 (GRCm39) |
L497F |
probably benign |
Het |
| Vsig10l |
G |
A |
7: 43,114,326 (GRCm39) |
S318N |
probably benign |
Het |
| Wbp4 |
A |
G |
14: 79,714,263 (GRCm39) |
L83P |
probably damaging |
Het |
| Wnk1 |
G |
A |
6: 119,927,044 (GRCm39) |
R1510W |
probably damaging |
Het |
| Zc3hav1l |
C |
T |
6: 38,272,176 (GRCm39) |
V198M |
probably damaging |
Het |
| Zfp1004 |
A |
G |
2: 150,034,700 (GRCm39) |
I340M |
probably benign |
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 |
|
IGL02894:Cdon
|
APN |
9 |
35,366,722 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTATTCTCTTTGAACCAGTGTG -3'
(R):5'- ACAAAATCAGGGCACTGTCG -3'
Sequencing Primer
(F):5'- TTTGAAGCTAATGAAGTGTGTACC -3'
(R):5'- GCACTGTCGCAGGAGAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation