Incidental Mutation 'R7857:Cdon'
ID |
607285 |
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 |
045910-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.351)
|
Stock # |
R7857 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
35332836-35418948 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35367908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 268
(R268G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045547
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042842]
[ENSMUST00000119129]
[ENSMUST00000137200]
[ENSMUST00000151682]
[ENSMUST00000154652]
|
AlphaFold |
Q32MD9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042842
AA Change: R268G
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000045547 Gene: ENSMUSG00000038119 AA Change: R268G
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 |
possibly damaging
Transcript: ENSMUST00000119129
AA Change: R268G
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113977 Gene: ENSMUSG00000038119 AA Change: R268G
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 |
possibly damaging
Transcript: ENSMUST00000154652
AA Change: R268G
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000117499 Gene: ENSMUSG00000038119 AA Change: R268G
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
A |
T |
12: 113,454,104 (GRCm39) |
N307I |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,984,832 (GRCm39) |
V2039M |
probably damaging |
Het |
Arhgef40 |
T |
A |
14: 52,226,212 (GRCm39) |
H85Q |
probably damaging |
Het |
Ash1l |
T |
A |
3: 88,891,616 (GRCm39) |
L1165* |
probably null |
Het |
Cck |
A |
G |
9: 121,322,514 (GRCm39) |
W100R |
probably damaging |
Het |
Cldn12 |
T |
C |
5: 5,558,209 (GRCm39) |
T73A |
probably benign |
Het |
Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
Ctnnd2 |
A |
T |
15: 30,620,076 (GRCm39) |
T143S |
probably benign |
Het |
Cyp2b13 |
T |
A |
7: 25,788,153 (GRCm39) |
L427Q |
possibly damaging |
Het |
Dnah3 |
A |
T |
7: 119,550,927 (GRCm39) |
Y152N |
probably damaging |
Het |
Dsg1b |
A |
T |
18: 20,529,520 (GRCm39) |
M322L |
probably benign |
Het |
Efhc1 |
T |
C |
1: 21,045,226 (GRCm39) |
M414T |
probably benign |
Het |
Elp3 |
G |
A |
14: 65,800,759 (GRCm39) |
T302M |
probably benign |
Het |
Entpd6 |
T |
C |
2: 150,607,473 (GRCm39) |
|
probably null |
Het |
Epb41l4a |
G |
T |
18: 34,139,098 (GRCm39) |
C13* |
probably null |
Het |
Ephb6 |
T |
C |
6: 41,590,331 (GRCm39) |
S28P |
probably benign |
Het |
Fbxo21 |
T |
C |
5: 118,126,878 (GRCm39) |
S210P |
probably benign |
Het |
Gapvd1 |
T |
A |
2: 34,619,079 (GRCm39) |
E98V |
probably benign |
Het |
Gcdh |
A |
G |
8: 85,619,093 (GRCm39) |
V157A |
probably damaging |
Het |
Gm10638 |
G |
T |
8: 87,472,891 (GRCm39) |
R188L |
unknown |
Het |
Grk3 |
T |
C |
5: 113,109,427 (GRCm39) |
T177A |
unknown |
Het |
Gsc |
T |
G |
12: 104,438,424 (GRCm39) |
E148A |
probably damaging |
Het |
Hacd4 |
C |
T |
4: 88,355,702 (GRCm39) |
G61E |
probably damaging |
Het |
Herc3 |
G |
A |
6: 58,820,637 (GRCm39) |
W7* |
probably null |
Het |
Il1rl2 |
T |
C |
1: 40,366,642 (GRCm39) |
Y59H |
probably benign |
Het |
Irag1 |
T |
A |
7: 110,522,742 (GRCm39) |
K234* |
probably null |
Het |
Kif1c |
A |
G |
11: 70,619,103 (GRCm39) |
T913A |
probably benign |
Het |
Lipg |
C |
T |
18: 75,078,891 (GRCm39) |
G454R |
probably damaging |
Het |
Lrrc74a |
A |
G |
12: 86,788,485 (GRCm39) |
D155G |
probably benign |
Het |
Ltf |
A |
T |
9: 110,851,444 (GRCm39) |
I137F |
probably benign |
Het |
Med19 |
T |
A |
2: 84,515,969 (GRCm39) |
M166K |
probably damaging |
Het |
Mei1 |
A |
T |
15: 81,976,918 (GRCm39) |
Y167F |
not run |
Het |
Ncaph |
A |
C |
2: 126,946,165 (GRCm39) |
D724E |
probably damaging |
Het |
Neb |
T |
A |
2: 52,112,996 (GRCm39) |
D4266V |
probably damaging |
Het |
Npffr1 |
G |
T |
10: 61,449,765 (GRCm39) |
W13L |
probably benign |
Het |
Or51b6 |
A |
T |
7: 103,555,817 (GRCm39) |
H54L |
|
Het |
Pcdha12 |
A |
T |
18: 37,155,468 (GRCm39) |
D729V |
probably benign |
Het |
Pcdha7 |
A |
T |
18: 37,108,892 (GRCm39) |
E639V |
probably damaging |
Het |
Pcdhb18 |
A |
T |
18: 37,624,364 (GRCm39) |
M565L |
probably benign |
Het |
Plcd3 |
A |
T |
11: 102,968,760 (GRCm39) |
D310E |
probably benign |
Het |
Pmm2 |
C |
G |
16: 8,460,632 (GRCm39) |
Q29E |
probably benign |
Het |
Poli |
T |
G |
18: 70,642,225 (GRCm39) |
E658D |
probably benign |
Het |
Prss22 |
G |
A |
17: 24,212,853 (GRCm39) |
R295C |
probably damaging |
Het |
Psg26 |
A |
G |
7: 18,212,215 (GRCm39) |
I380T |
possibly damaging |
Het |
Reep5 |
A |
T |
18: 34,505,521 (GRCm39) |
V50E |
possibly damaging |
Het |
Rfx7 |
A |
G |
9: 72,500,605 (GRCm39) |
T122A |
possibly damaging |
Het |
Robo1 |
A |
G |
16: 72,767,099 (GRCm39) |
N424D |
probably damaging |
Het |
Slc4a7 |
T |
C |
14: 14,772,624 (GRCm38) |
V711A |
probably benign |
Het |
Smc4 |
T |
C |
3: 68,940,552 (GRCm39) |
V1162A |
possibly damaging |
Het |
Snta1 |
A |
T |
2: 154,225,817 (GRCm39) |
L189H |
probably benign |
Het |
Tmem121 |
C |
T |
12: 113,152,696 (GRCm39) |
R305C |
possibly damaging |
Het |
Tmem68 |
A |
G |
4: 3,551,825 (GRCm39) |
V271A |
probably damaging |
Het |
Tmx4 |
T |
G |
2: 134,481,582 (GRCm39) |
M114L |
probably benign |
Het |
Trps1 |
T |
A |
15: 50,524,401 (GRCm39) |
R1176S |
probably damaging |
Het |
Usp21 |
A |
G |
1: 171,114,335 (GRCm39) |
L63P |
probably benign |
Het |
Vmn2r84 |
T |
A |
10: 130,226,738 (GRCm39) |
M367L |
probably benign |
Het |
Wbp2nl |
A |
G |
15: 82,190,273 (GRCm39) |
N67S |
probably benign |
Het |
Wdr35 |
T |
C |
12: 9,058,113 (GRCm39) |
|
probably null |
Het |
Zfp236 |
G |
A |
18: 82,686,726 (GRCm39) |
Q271* |
probably null |
Het |
Zfp831 |
T |
C |
2: 174,547,035 (GRCm39) |
V1406A |
probably benign |
Het |
Zfp934 |
G |
A |
13: 62,665,361 (GRCm39) |
H459Y |
|
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 |
|
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'- GGGTGGACACGAGTCATTTC -3'
(R):5'- ACCAGTTAGACTAGGAAAATGATGC -3'
Sequencing Primer
(F):5'- GTGGACACGAGTCATTTCTAATG -3'
(R):5'- TCACATCTCCGGACTTGT -3'
|
Posted On |
2019-12-20 |