Incidental Mutation 'R4569:Cdon'
ID |
342010 |
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 |
041793-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.351)
|
Stock # |
R4569 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
35332836-35418948 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35388265 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 747
(I747F)
|
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: I747F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045547 Gene: ENSMUSG00000038119 AA Change: I747F
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: I747F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113977 Gene: ENSMUSG00000038119 AA Change: I747F
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 |
|
Meta Mutation Damage Score |
0.8764 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
99% (87/88) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
A |
G |
7: 41,275,262 (GRCm39) |
T322A |
probably benign |
Het |
Abhd13 |
C |
T |
8: 10,038,071 (GRCm39) |
P223S |
possibly damaging |
Het |
Adgra3 |
T |
A |
5: 50,117,905 (GRCm39) |
L1214F |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Ankrd13a |
C |
A |
5: 114,927,373 (GRCm39) |
P120Q |
probably damaging |
Het |
Apbb1ip |
A |
G |
2: 22,739,556 (GRCm39) |
Y277C |
probably damaging |
Het |
Arfgap1 |
T |
C |
2: 180,618,166 (GRCm39) |
|
probably benign |
Het |
Arid2 |
T |
A |
15: 96,290,343 (GRCm39) |
V1746D |
probably damaging |
Het |
C1qtnf7 |
T |
A |
5: 43,766,549 (GRCm39) |
N49K |
possibly damaging |
Het |
Cacnb2 |
A |
T |
2: 14,990,811 (GRCm39) |
D587V |
possibly damaging |
Het |
Ccar2 |
A |
T |
14: 70,389,359 (GRCm39) |
|
probably null |
Het |
Cdk2ap2 |
T |
C |
19: 4,147,879 (GRCm39) |
F49L |
possibly damaging |
Het |
Cyp19a1 |
G |
A |
9: 54,100,607 (GRCm39) |
P27S |
probably benign |
Het |
Cyp4v3 |
T |
A |
8: 45,760,029 (GRCm39) |
R508W |
probably damaging |
Het |
Dclk1 |
T |
C |
3: 55,154,831 (GRCm39) |
L87P |
probably damaging |
Het |
Ddx41 |
G |
A |
13: 55,683,834 (GRCm39) |
R66C |
possibly damaging |
Het |
Dmxl1 |
T |
C |
18: 49,985,427 (GRCm39) |
Y225H |
probably damaging |
Het |
Dnah7a |
G |
A |
1: 53,450,818 (GRCm39) |
P3871S |
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,306,373 (GRCm39) |
|
probably null |
Het |
Dph1 |
A |
T |
11: 75,069,721 (GRCm39) |
|
probably benign |
Het |
Egln2 |
A |
G |
7: 26,859,008 (GRCm39) |
I382T |
probably damaging |
Het |
Enpp3 |
A |
G |
10: 24,652,780 (GRCm39) |
Y726H |
probably damaging |
Het |
Fbxo32 |
A |
G |
15: 58,044,873 (GRCm39) |
F353L |
probably damaging |
Het |
Fchsd2 |
G |
A |
7: 100,926,809 (GRCm39) |
G657D |
possibly damaging |
Het |
Fer1l4 |
T |
A |
2: 155,878,559 (GRCm39) |
E44V |
possibly damaging |
Het |
Gjb2 |
C |
T |
14: 57,337,762 (GRCm39) |
V149I |
probably benign |
Het |
Glipr1l1 |
A |
G |
10: 111,898,317 (GRCm39) |
M141V |
probably benign |
Het |
Gnaq |
T |
C |
19: 16,312,370 (GRCm39) |
S211P |
probably damaging |
Het |
Gnl1 |
A |
G |
17: 36,299,142 (GRCm39) |
R527G |
probably benign |
Het |
Gns |
A |
G |
10: 121,217,083 (GRCm39) |
Q286R |
probably benign |
Het |
Gon4l |
T |
C |
3: 88,817,397 (GRCm39) |
|
probably benign |
Het |
Gpr107 |
T |
C |
2: 31,097,677 (GRCm39) |
|
probably benign |
Het |
Gprasp1 |
C |
T |
X: 134,703,592 (GRCm39) |
R1262C |
probably damaging |
Het |
Gtf2ird1 |
A |
T |
5: 134,439,857 (GRCm39) |
D124E |
probably damaging |
Het |
Hbp1 |
T |
A |
12: 32,000,231 (GRCm39) |
|
probably benign |
Het |
Hrnr |
C |
T |
3: 93,230,875 (GRCm39) |
T371I |
unknown |
Het |
Ints2 |
A |
G |
11: 86,147,024 (GRCm39) |
C41R |
probably damaging |
Het |
Jhy |
A |
G |
9: 40,822,389 (GRCm39) |
I583T |
probably benign |
Het |
Jph4 |
G |
T |
14: 55,352,503 (GRCm39) |
R77S |
probably damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Klhl12 |
A |
T |
1: 134,413,507 (GRCm39) |
I331F |
probably benign |
Het |
Map4k4 |
G |
A |
1: 40,039,698 (GRCm39) |
R30Q |
probably damaging |
Het |
Mgst1 |
C |
A |
6: 138,133,213 (GRCm39) |
T176K |
probably damaging |
Het |
Negr1 |
C |
A |
3: 156,914,013 (GRCm39) |
|
probably benign |
Het |
Nrg1 |
C |
T |
8: 32,407,802 (GRCm39) |
V144I |
probably benign |
Het |
Ntmt2 |
T |
A |
1: 163,530,586 (GRCm39) |
*284C |
probably null |
Het |
Or1ad8 |
T |
C |
11: 50,898,381 (GRCm39) |
I194T |
possibly damaging |
Het |
Otog |
A |
G |
7: 45,959,571 (GRCm39) |
D720G |
probably damaging |
Het |
Pex11b |
A |
T |
3: 96,551,330 (GRCm39) |
|
probably benign |
Het |
Phtf2 |
T |
C |
5: 20,994,593 (GRCm39) |
|
probably benign |
Het |
Ppip5k1 |
C |
T |
2: 121,174,044 (GRCm39) |
R359Q |
possibly damaging |
Het |
Prickle2 |
T |
C |
6: 92,399,323 (GRCm39) |
I185V |
probably benign |
Het |
Prrc2a |
G |
A |
17: 35,377,473 (GRCm39) |
P562S |
unknown |
Het |
Rdx |
A |
G |
9: 51,980,141 (GRCm39) |
I245V |
probably benign |
Het |
Rem2 |
T |
C |
14: 54,715,116 (GRCm39) |
S98P |
probably damaging |
Het |
Rhob |
T |
G |
12: 8,549,373 (GRCm39) |
D87A |
probably damaging |
Het |
Ros1 |
T |
A |
10: 52,040,090 (GRCm39) |
E300D |
probably damaging |
Het |
Sbf2 |
A |
G |
7: 109,948,060 (GRCm39) |
|
probably null |
Het |
Sipa1l3 |
G |
T |
7: 29,025,287 (GRCm39) |
P619Q |
probably damaging |
Het |
Snupn |
A |
G |
9: 56,885,346 (GRCm39) |
E217G |
probably benign |
Het |
Ston2 |
T |
A |
12: 91,606,496 (GRCm39) |
*896C |
probably null |
Het |
Stradb |
C |
T |
1: 59,019,117 (GRCm39) |
R13* |
probably null |
Het |
Tbx21 |
G |
A |
11: 97,005,581 (GRCm39) |
A128V |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,062,197 (GRCm39) |
C2552S |
probably benign |
Het |
Tgif1 |
A |
T |
17: 71,151,912 (GRCm39) |
V233E |
possibly damaging |
Het |
Trim31 |
A |
T |
17: 37,209,633 (GRCm39) |
I130L |
probably benign |
Het |
Trrap |
C |
T |
5: 144,728,928 (GRCm39) |
T614I |
probably benign |
Het |
Ttn |
C |
A |
2: 76,766,758 (GRCm39) |
V3107F |
probably damaging |
Het |
Txnrd2 |
T |
G |
16: 18,274,956 (GRCm39) |
D322E |
probably benign |
Het |
Unc45b |
T |
A |
11: 82,827,315 (GRCm39) |
|
probably null |
Het |
Usp43 |
C |
T |
11: 67,789,788 (GRCm39) |
C252Y |
probably damaging |
Het |
Usp43 |
A |
T |
11: 67,766,178 (GRCm39) |
L744* |
probably null |
Het |
Vmn2r71 |
A |
C |
7: 85,273,402 (GRCm39) |
K739Q |
possibly damaging |
Het |
Vps16 |
C |
T |
2: 130,284,124 (GRCm39) |
T653M |
probably benign |
Het |
Wdr83os |
T |
A |
8: 85,808,495 (GRCm39) |
S82R |
probably damaging |
Het |
Xpo6 |
T |
A |
7: 125,727,427 (GRCm39) |
L526F |
probably damaging |
Het |
Zfhx4 |
G |
A |
3: 5,466,894 (GRCm39) |
V2351I |
probably benign |
Het |
Zfp558 |
A |
T |
9: 18,367,799 (GRCm39) |
C330S |
possibly damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTACCCCTCAGAGGATTTTAGG -3'
(R):5'- ATATACTGTGCATGAATGGGTAGAG -3'
Sequencing Primer
(F):5'- ACCCCTCAGAGGATTTTAGGTTATTC -3'
(R):5'- GCATGAATGGGTAGAGTTGATATAAC -3'
|
Posted On |
2015-09-24 |