Incidental Mutation 'R4677:Cdon'
ID |
349671 |
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 |
042014-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.351)
|
Stock # |
R4677 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
35332836-35418948 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35389901 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 852
(N852D)
|
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: N852D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000045547 Gene: ENSMUSG00000038119 AA Change: N852D
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: N852D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000113977 Gene: ENSMUSG00000038119 AA Change: N852D
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 |
0.3290 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
100% (85/85) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
T |
C |
6: 92,793,587 (GRCm39) |
M1T |
probably null |
Het |
Akap3 |
T |
C |
6: 126,842,226 (GRCm39) |
S282P |
probably damaging |
Het |
Anxa10 |
A |
G |
8: 62,516,054 (GRCm39) |
I206T |
probably damaging |
Het |
Apobec3 |
A |
G |
15: 79,779,713 (GRCm39) |
D52G |
probably damaging |
Het |
Arl6 |
A |
T |
16: 59,439,228 (GRCm39) |
|
probably null |
Het |
Calcoco1 |
T |
C |
15: 102,626,329 (GRCm39) |
E87G |
probably damaging |
Het |
Ccdc88b |
C |
A |
19: 6,825,636 (GRCm39) |
A1206S |
probably damaging |
Het |
Ccpg1 |
A |
G |
9: 72,923,197 (GRCm39) |
|
probably benign |
Het |
Cobl |
T |
A |
11: 12,336,665 (GRCm39) |
Q41L |
possibly damaging |
Het |
Cspg4b |
A |
G |
13: 113,516,020 (GRCm39) |
T145A |
unknown |
Het |
Dcdc2b |
T |
C |
4: 129,507,936 (GRCm39) |
T39A |
probably damaging |
Het |
Ddx55 |
A |
T |
5: 124,705,997 (GRCm39) |
D474V |
probably benign |
Het |
Dipk2a |
A |
T |
9: 94,402,457 (GRCm39) |
C402S |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 118,010,640 (GRCm39) |
L521P |
probably damaging |
Het |
Exoc1 |
A |
G |
5: 76,707,010 (GRCm39) |
D497G |
probably null |
Het |
Fam151a |
A |
G |
4: 106,605,456 (GRCm39) |
E606G |
possibly damaging |
Het |
Fbxw11 |
T |
A |
11: 32,692,535 (GRCm39) |
L502* |
probably null |
Het |
Fcrl1 |
A |
G |
3: 87,297,563 (GRCm39) |
S337G |
possibly damaging |
Het |
G6pc1 |
C |
A |
11: 101,267,439 (GRCm39) |
F296L |
probably benign |
Het |
Gm17472 |
C |
A |
6: 42,957,809 (GRCm39) |
T26N |
probably damaging |
Het |
Grin2b |
A |
G |
6: 135,751,870 (GRCm39) |
V564A |
probably benign |
Het |
H2-Ob |
T |
C |
17: 34,461,618 (GRCm39) |
I119T |
probably benign |
Het |
Hhip |
A |
G |
8: 80,771,726 (GRCm39) |
Y195H |
probably damaging |
Het |
Igkc |
A |
T |
6: 70,703,662 (GRCm39) |
|
probably benign |
Het |
Islr |
A |
T |
9: 58,064,642 (GRCm39) |
D288E |
probably damaging |
Het |
Kdelr1 |
A |
G |
7: 45,523,197 (GRCm39) |
S36G |
probably benign |
Het |
Lama5 |
G |
T |
2: 179,821,159 (GRCm39) |
H3134Q |
possibly damaging |
Het |
Loricrin |
A |
G |
3: 91,989,050 (GRCm39) |
Y79H |
unknown |
Het |
Lrp1b |
A |
G |
2: 40,691,496 (GRCm39) |
F3327S |
probably damaging |
Het |
Lrrc41 |
C |
T |
4: 115,952,332 (GRCm39) |
H637Y |
probably benign |
Het |
Map2k6 |
C |
T |
11: 110,290,220 (GRCm39) |
|
probably benign |
Het |
Mcm3ap |
T |
G |
10: 76,306,404 (GRCm39) |
F172L |
probably damaging |
Het |
Muc19 |
G |
A |
15: 91,772,411 (GRCm39) |
|
noncoding transcript |
Het |
Muc21 |
T |
A |
17: 35,930,599 (GRCm39) |
|
probably benign |
Het |
Muc6 |
T |
A |
7: 141,224,212 (GRCm39) |
|
probably benign |
Het |
Nek1 |
A |
T |
8: 61,481,840 (GRCm39) |
I252L |
probably damaging |
Het |
Nrg2 |
A |
T |
18: 36,154,152 (GRCm39) |
H588Q |
possibly damaging |
Het |
Nt5dc2 |
T |
C |
14: 30,860,878 (GRCm39) |
V351A |
possibly damaging |
Het |
Or1j12 |
A |
G |
2: 36,343,062 (GRCm39) |
N155S |
probably benign |
Het |
Or51b17 |
T |
C |
7: 103,542,615 (GRCm39) |
E109G |
probably damaging |
Het |
Or5m5 |
A |
G |
2: 85,814,315 (GRCm39) |
T44A |
possibly damaging |
Het |
Or8k1 |
A |
T |
2: 86,048,032 (GRCm39) |
S7R |
probably benign |
Het |
Pde3a |
A |
G |
6: 141,411,865 (GRCm39) |
N480D |
probably benign |
Het |
Pde6c |
A |
G |
19: 38,145,833 (GRCm39) |
K374E |
probably damaging |
Het |
Pdhx |
G |
A |
2: 102,903,811 (GRCm39) |
|
probably null |
Het |
Pi4ka |
A |
G |
16: 17,100,237 (GRCm39) |
Y1888H |
probably damaging |
Het |
Pnpla2 |
T |
A |
7: 141,038,356 (GRCm39) |
M203K |
probably damaging |
Het |
Prrc2c |
C |
T |
1: 162,532,748 (GRCm39) |
|
probably benign |
Het |
Ptcd3 |
G |
T |
6: 71,870,498 (GRCm39) |
H321N |
probably benign |
Het |
Ptprt |
A |
G |
2: 161,743,366 (GRCm39) |
|
probably null |
Het |
Ptx4 |
A |
G |
17: 25,342,100 (GRCm39) |
T192A |
probably benign |
Het |
Qars1 |
A |
G |
9: 108,386,889 (GRCm39) |
|
probably benign |
Het |
Ralgapa2 |
G |
A |
2: 146,187,387 (GRCm39) |
P1372S |
possibly damaging |
Het |
Rps6ka4 |
G |
T |
19: 6,816,854 (GRCm39) |
T107K |
probably damaging |
Het |
Rsf1 |
A |
G |
7: 97,329,980 (GRCm39) |
T1169A |
possibly damaging |
Het |
Ryr2 |
C |
A |
13: 11,721,553 (GRCm39) |
W2626L |
probably damaging |
Het |
Scn4a |
C |
T |
11: 106,214,788 (GRCm39) |
V1270I |
probably damaging |
Het |
Serpinb9b |
T |
C |
13: 33,223,806 (GRCm39) |
S333P |
probably damaging |
Het |
Sned1 |
A |
G |
1: 93,224,019 (GRCm39) |
|
probably benign |
Het |
Sult1c2 |
C |
T |
17: 54,137,137 (GRCm39) |
V262M |
possibly damaging |
Het |
Tll1 |
A |
T |
8: 64,504,411 (GRCm39) |
F662I |
probably benign |
Het |
Tmem161a |
A |
T |
8: 70,633,597 (GRCm39) |
|
probably null |
Het |
Top1mt |
A |
C |
15: 75,535,907 (GRCm39) |
V465G |
possibly damaging |
Het |
Trcg1 |
A |
G |
9: 57,153,144 (GRCm39) |
K596E |
possibly damaging |
Het |
Trim27 |
T |
A |
13: 21,365,086 (GRCm39) |
|
probably null |
Het |
Trpm3 |
A |
G |
19: 22,964,752 (GRCm39) |
I1406V |
possibly damaging |
Het |
Tssc4 |
T |
A |
7: 142,624,246 (GRCm39) |
S254T |
probably damaging |
Het |
Ttc7 |
C |
A |
17: 87,678,163 (GRCm39) |
|
probably benign |
Het |
Usp30 |
A |
G |
5: 114,257,705 (GRCm39) |
T288A |
probably damaging |
Het |
Usp48 |
C |
A |
4: 137,343,692 (GRCm39) |
R441S |
probably benign |
Het |
Vmn1r29 |
T |
C |
6: 58,284,285 (GRCm39) |
S2P |
probably benign |
Het |
Vmn2r65 |
T |
A |
7: 84,613,082 (GRCm39) |
I46L |
possibly damaging |
Het |
Zeb1 |
A |
T |
18: 5,766,775 (GRCm39) |
I429F |
probably damaging |
Het |
Zfp943 |
A |
G |
17: 22,212,176 (GRCm39) |
R421G |
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 |
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'- TGCTCTCATCCAAATGGTGC -3'
(R):5'- TACCAGCTCATGTGTAACCCAG -3'
Sequencing Primer
(F):5'- CTCTCATCCAAATGGTGCTAATTAAC -3'
(R):5'- CAGTCTTAGCCCGTGAAGATG -3'
|
Posted On |
2015-10-08 |