Incidental Mutation 'R5214:Cdon'
| ID |
403350 |
| 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 |
042787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R5214 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
35332836-35418948 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35394504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 917
(C917R)
|
| 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: C917R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045547
Gene: ENSMUSG00000038119
AA Change: C917R
| 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 damaging
Transcript: ENSMUST00000119129
AA Change: C917R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113977
Gene: ENSMUSG00000038119
AA Change: C917R
| 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 |
0.3881 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (77/77) |
| 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 |
|---|
| 1700061I17Rik |
A |
G |
3: 116,861,424 (GRCm39) |
|
noncoding transcript |
Het |
| 4930449A18Rik |
A |
T |
3: 59,733,305 (GRCm39) |
|
noncoding transcript |
Het |
| Acsbg3 |
T |
C |
17: 57,193,493 (GRCm39) |
V613A |
probably benign |
Het |
| Adgrl1 |
G |
A |
8: 84,642,202 (GRCm39) |
|
probably null |
Het |
| Aldh1l1 |
A |
G |
6: 90,540,399 (GRCm39) |
D228G |
probably damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,431,319 (GRCm39) |
I822V |
possibly damaging |
Het |
| Atm |
C |
A |
9: 53,402,327 (GRCm39) |
A1382S |
probably benign |
Het |
| Bltp3a |
G |
A |
17: 28,106,489 (GRCm39) |
S1005N |
probably benign |
Het |
| Cacna1e |
T |
A |
1: 154,577,110 (GRCm39) |
I96F |
possibly damaging |
Het |
| Calhm5 |
A |
G |
10: 33,968,487 (GRCm39) |
S189P |
probably damaging |
Het |
| Ccar1 |
G |
A |
10: 62,606,740 (GRCm39) |
R335C |
probably damaging |
Het |
| Ccdc113 |
T |
C |
8: 96,272,601 (GRCm39) |
I236T |
possibly damaging |
Het |
| Ccdc14 |
T |
A |
16: 34,525,225 (GRCm39) |
S125T |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,127,389 (GRCm39) |
D263G |
probably benign |
Het |
| Cntnap3 |
G |
T |
13: 64,909,824 (GRCm39) |
H760Q |
probably damaging |
Het |
| Dennd2d |
G |
A |
3: 106,393,637 (GRCm39) |
|
probably null |
Het |
| Dock4 |
A |
G |
12: 40,754,465 (GRCm39) |
I485V |
probably benign |
Het |
| Dspp |
A |
G |
5: 104,326,364 (GRCm39) |
D909G |
unknown |
Het |
| Eps8 |
A |
T |
6: 137,504,490 (GRCm39) |
M81K |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,917,452 (GRCm39) |
S3491P |
probably damaging |
Het |
| Gm17669 |
C |
T |
18: 67,695,479 (GRCm39) |
T8I |
possibly damaging |
Het |
| Gm5114 |
G |
T |
7: 39,057,792 (GRCm39) |
T609K |
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,565,880 (GRCm39) |
N32S |
probably damaging |
Het |
| Herpud1 |
G |
T |
8: 95,117,479 (GRCm39) |
|
probably null |
Het |
| Jcad |
T |
A |
18: 4,674,134 (GRCm39) |
L632Q |
probably damaging |
Het |
| Kcnh8 |
T |
C |
17: 53,205,486 (GRCm39) |
L527S |
probably damaging |
Het |
| Klk1b11 |
C |
A |
7: 43,647,266 (GRCm39) |
H67N |
probably benign |
Het |
| Ldhb |
T |
A |
6: 142,441,321 (GRCm39) |
I190F |
probably damaging |
Het |
| Lrrc34 |
A |
T |
3: 30,690,397 (GRCm39) |
C168* |
probably null |
Het |
| Lrtm1 |
C |
T |
14: 28,743,651 (GRCm39) |
H40Y |
possibly damaging |
Het |
| Mageb3 |
T |
C |
2: 121,785,319 (GRCm39) |
M128V |
possibly damaging |
Het |
| Miga2 |
A |
G |
2: 30,261,208 (GRCm39) |
T90A |
probably benign |
Het |
| Msantd5 |
C |
A |
11: 51,125,675 (GRCm39) |
H199Q |
possibly damaging |
Het |
| Ndrg1 |
G |
A |
15: 66,831,239 (GRCm39) |
T24I |
probably damaging |
Het |
| Nos2 |
T |
C |
11: 78,846,267 (GRCm39) |
L878P |
probably damaging |
Het |
| Or11g27 |
T |
G |
14: 50,771,804 (GRCm39) |
*312E |
probably null |
Het |
| Pcdhgb1 |
T |
A |
18: 37,814,478 (GRCm39) |
I323N |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,061,921 (GRCm39) |
I2537T |
probably damaging |
Het |
| Pnpo |
C |
A |
11: 96,833,295 (GRCm39) |
E68D |
probably benign |
Het |
| Ppp6r1 |
C |
T |
7: 4,646,176 (GRCm39) |
R175Q |
probably benign |
Het |
| Prnp |
C |
T |
2: 131,778,924 (GRCm39) |
T192I |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,205,229 (GRCm39) |
I2148T |
possibly damaging |
Het |
| Raf1 |
G |
T |
6: 115,614,583 (GRCm39) |
F99L |
possibly damaging |
Het |
| Rbks |
A |
G |
5: 31,807,736 (GRCm39) |
|
probably benign |
Het |
| Rlf |
T |
C |
4: 121,007,897 (GRCm39) |
D361G |
probably damaging |
Het |
| Rnpepl1 |
G |
T |
1: 92,847,001 (GRCm39) |
D608Y |
probably benign |
Het |
| Scaf1 |
G |
A |
7: 44,652,662 (GRCm39) |
|
probably benign |
Het |
| Sh3rf1 |
A |
T |
8: 61,825,765 (GRCm39) |
M587L |
probably damaging |
Het |
| Slc22a21 |
A |
T |
11: 53,843,869 (GRCm39) |
S473T |
probably damaging |
Het |
| Syt15 |
A |
G |
14: 33,943,703 (GRCm39) |
D84G |
possibly damaging |
Het |
| Tbc1d19 |
T |
C |
5: 54,007,183 (GRCm39) |
L236P |
probably benign |
Het |
| Tbx2 |
G |
T |
11: 85,729,263 (GRCm39) |
A549S |
probably benign |
Het |
| Tc2n |
A |
T |
12: 101,659,461 (GRCm39) |
C157* |
probably null |
Het |
| Tecta |
C |
T |
9: 42,256,964 (GRCm39) |
V1571I |
probably benign |
Het |
| Them4 |
A |
G |
3: 94,224,818 (GRCm39) |
K65R |
probably benign |
Het |
| Tmc5 |
C |
T |
7: 118,247,155 (GRCm39) |
T553M |
probably damaging |
Het |
| Tmem200c |
C |
T |
17: 69,148,122 (GRCm39) |
A235V |
probably damaging |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
| Tmf1 |
G |
C |
6: 97,144,253 (GRCm39) |
A701G |
possibly damaging |
Het |
| Tomm70a |
G |
A |
16: 56,942,300 (GRCm39) |
G26S |
unknown |
Het |
| Treh |
T |
C |
9: 44,594,173 (GRCm39) |
Y140H |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,325,489 (GRCm39) |
|
probably benign |
Het |
| Uba7 |
T |
C |
9: 107,854,713 (GRCm39) |
|
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,860,166 (GRCm39) |
I299V |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,468,701 (GRCm39) |
K2953T |
probably damaging |
Het |
| Zfp280d |
T |
A |
9: 72,215,395 (GRCm39) |
|
probably benign |
Het |
| Zscan20 |
G |
A |
4: 128,482,109 (GRCm39) |
R518C |
probably benign |
Het |
| Zw10 |
T |
C |
9: 48,975,463 (GRCm39) |
I296T |
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 |
|
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 |
|
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'- CCCAAATCGATGTCATGCAG -3'
(R):5'- TCACATGGGAAGTAATGGGC -3'
Sequencing Primer
(F):5'- CAGGCTGTGTGATATCTACAGC -3'
(R):5'- TTTAGATGAATGCTCTAGCCGACACC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation