Incidental Mutation 'R4084:Cdon'
| ID |
500486 |
| 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 |
040857-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R4084 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
35332836-35418948 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 35389427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 844
(T844K)
|
| 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: T844K
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000045547
Gene: ENSMUSG00000038119
AA Change: T844K
| 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: T844K
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113977
Gene: ENSMUSG00000038119
AA Change: T844K
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl2 |
A |
T |
9: 102,601,884 (GRCm39) |
|
probably null |
Het |
| Arhgdig |
T |
C |
17: 26,418,799 (GRCm39) |
D114G |
possibly damaging |
Het |
| Btnl1 |
C |
T |
17: 34,600,133 (GRCm39) |
T212I |
possibly damaging |
Het |
| Camkk1 |
C |
T |
11: 72,928,691 (GRCm39) |
T410I |
probably damaging |
Het |
| Capn13 |
C |
T |
17: 73,644,444 (GRCm39) |
G362R |
probably benign |
Het |
| Catsperd |
A |
G |
17: 56,961,453 (GRCm39) |
T392A |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,950,632 (GRCm39) |
I1626V |
probably benign |
Het |
| Col28a1 |
G |
A |
6: 8,013,131 (GRCm39) |
Q974* |
probably null |
Het |
| Col28a1 |
C |
G |
6: 8,013,132 (GRCm39) |
K973N |
possibly damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,358,795 (GRCm39) |
L3428P |
probably damaging |
Het |
| Ecm1 |
A |
T |
3: 95,641,676 (GRCm39) |
N519K |
probably damaging |
Het |
| Fbxw11 |
T |
C |
11: 32,689,248 (GRCm39) |
V457A |
probably damaging |
Het |
| Flna |
C |
T |
X: 73,280,531 (GRCm39) |
V1009M |
possibly damaging |
Het |
| Fmnl2 |
A |
T |
2: 52,997,507 (GRCm39) |
K486I |
possibly damaging |
Het |
| Gja1 |
A |
C |
10: 56,264,607 (GRCm39) |
Q322P |
possibly damaging |
Het |
| Gtpbp3 |
A |
G |
8: 71,943,156 (GRCm39) |
Q189R |
probably benign |
Het |
| H2-Eb1 |
T |
C |
17: 34,533,417 (GRCm39) |
V213A |
probably damaging |
Het |
| Herc4 |
G |
T |
10: 63,119,016 (GRCm39) |
G322V |
probably damaging |
Het |
| Hgf |
G |
T |
5: 16,820,856 (GRCm39) |
G668* |
probably null |
Het |
| Htra1 |
T |
C |
7: 130,538,074 (GRCm39) |
S25P |
probably benign |
Het |
| Ifi44 |
A |
G |
3: 151,451,126 (GRCm39) |
|
probably null |
Het |
| Klhl24 |
T |
A |
16: 19,933,312 (GRCm39) |
S308T |
probably damaging |
Het |
| Lamb2 |
A |
G |
9: 108,365,217 (GRCm39) |
N1291S |
probably benign |
Het |
| Lgals9 |
A |
T |
11: 78,860,589 (GRCm39) |
F162Y |
possibly damaging |
Het |
| Lig3 |
T |
A |
11: 82,686,250 (GRCm39) |
I634N |
probably damaging |
Het |
| Lipn |
T |
C |
19: 34,056,340 (GRCm39) |
F229L |
probably benign |
Het |
| Lmtk3 |
T |
A |
7: 45,442,716 (GRCm39) |
S466R |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,860,232 (GRCm39) |
T22I |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,343,865 (GRCm39) |
H2119R |
probably damaging |
Het |
| Muc6 |
C |
T |
7: 141,234,920 (GRCm39) |
C634Y |
probably damaging |
Het |
| Nap1l1 |
G |
A |
10: 111,325,938 (GRCm39) |
V86I |
possibly damaging |
Het |
| Noxred1 |
A |
G |
12: 87,280,258 (GRCm39) |
Y25H |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,573,248 (GRCm39) |
L62P |
probably damaging |
Het |
| Or11h6 |
T |
A |
14: 50,880,305 (GRCm39) |
I189N |
probably damaging |
Het |
| Or2b2 |
G |
A |
13: 21,887,238 (GRCm39) |
W22* |
probably null |
Het |
| Or2b2 |
C |
A |
13: 21,887,239 (GRCm39) |
L23M |
probably damaging |
Het |
| Or52ab4 |
T |
G |
7: 102,987,527 (GRCm39) |
F89V |
probably damaging |
Het |
| Pcdh10 |
A |
C |
3: 45,347,142 (GRCm39) |
D979A |
probably damaging |
Het |
| Pla2g4f |
C |
G |
2: 120,142,806 (GRCm39) |
Q101H |
probably benign |
Het |
| Ppp1r15b |
T |
C |
1: 133,060,805 (GRCm39) |
F441L |
probably damaging |
Het |
| Prkaca |
C |
A |
8: 84,721,939 (GRCm39) |
P309T |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ripor3 |
A |
G |
2: 167,826,386 (GRCm39) |
Y720H |
possibly damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,386,808 (GRCm39) |
E751G |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGCGGCGGCGGC |
GCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,126 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,731,253 (GRCm39) |
S686P |
probably damaging |
Het |
| Seh1l |
T |
C |
18: 67,921,860 (GRCm39) |
V240A |
possibly damaging |
Het |
| Slc10a2 |
T |
G |
8: 5,139,126 (GRCm39) |
I273L |
possibly damaging |
Het |
| Slc23a2 |
A |
T |
2: 131,933,137 (GRCm39) |
L107* |
probably null |
Het |
| Slc44a4 |
T |
C |
17: 35,136,323 (GRCm39) |
L38P |
probably damaging |
Het |
| Slc6a18 |
C |
T |
13: 73,815,148 (GRCm39) |
V387I |
probably benign |
Het |
| Slu7 |
G |
A |
11: 43,334,218 (GRCm39) |
A415T |
probably benign |
Het |
| Tlr5 |
A |
T |
1: 182,802,413 (GRCm39) |
R572S |
possibly damaging |
Het |
| Tmem45a2 |
C |
T |
16: 56,891,387 (GRCm39) |
G3D |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,892,192 (GRCm39) |
T242A |
probably damaging |
Het |
| Triobp |
T |
A |
15: 78,857,871 (GRCm39) |
N1157K |
probably benign |
Het |
| Ugt1a6a |
A |
T |
1: 88,066,899 (GRCm39) |
D235V |
probably benign |
Het |
| Vmn2r37 |
C |
T |
7: 9,218,984 (GRCm39) |
V467I |
probably benign |
Het |
| Vmn2r7 |
C |
T |
3: 64,600,414 (GRCm39) |
E495K |
probably benign |
Het |
| Vstm2a |
A |
G |
11: 16,213,098 (GRCm39) |
E161G |
probably damaging |
Het |
| Ypel3 |
T |
C |
7: 126,377,537 (GRCm39) |
V74A |
possibly damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,108,122 (GRCm39) |
N27K |
possibly damaging |
Het |
| Zfp27 |
C |
T |
7: 29,594,792 (GRCm39) |
R391H |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGGAACCAAGTAACATTTTCTG -3'
(R):5'- GCAGAAGAAACTGTGGTGCC -3'
Sequencing Primer
(F):5'- TTTCTGAACTGAAAGCTTTCCAG -3'
(R):5'- GAAACTGTGGTGCCATTTTTAACCC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation