Incidental Mutation 'R1110:Cdon'
| ID |
96632 |
| 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 |
039183-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R1110 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
35332836-35418948 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 35367733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042842]
[ENSMUST00000119129]
[ENSMUST00000137200]
[ENSMUST00000151682]
[ENSMUST00000154652]
|
| AlphaFold |
Q32MD9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042842
|
| SMART Domains |
Protein: ENSMUSP00000045547
Gene: ENSMUSG00000038119
| 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: ENSMUST00000119129
|
| SMART Domains |
Protein: ENSMUSP00000113977
Gene: ENSMUSG00000038119
| 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 |
probably benign
Transcript: ENSMUST00000154652
|
| SMART Domains |
Protein: ENSMUSP00000117499
Gene: ENSMUSG00000038119
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.3%
|
| Validation Efficiency |
97% (63/65) |
| 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 |
|---|
| Acap3 |
T |
A |
4: 155,989,856 (GRCm39) |
|
probably null |
Het |
| Acp2 |
A |
G |
2: 91,038,767 (GRCm39) |
|
probably null |
Het |
| Akap13 |
T |
G |
7: 75,261,125 (GRCm39) |
S447A |
possibly damaging |
Het |
| Alk |
G |
A |
17: 72,291,740 (GRCm39) |
|
probably benign |
Het |
| Arhgef39 |
T |
C |
4: 43,496,834 (GRCm39) |
T327A |
probably benign |
Het |
| Calhm5 |
T |
G |
10: 33,972,013 (GRCm39) |
I141L |
probably benign |
Het |
| Cdan1 |
G |
A |
2: 120,551,083 (GRCm39) |
A1103V |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,474,403 (GRCm39) |
T758A |
probably benign |
Het |
| Cdk17 |
T |
A |
10: 93,074,895 (GRCm39) |
Y3* |
probably null |
Het |
| Cntn3 |
T |
A |
6: 102,222,119 (GRCm39) |
N460I |
probably benign |
Het |
| Cntrl |
T |
A |
2: 35,050,639 (GRCm39) |
C985S |
possibly damaging |
Het |
| Col6a2 |
T |
C |
10: 76,443,574 (GRCm39) |
E497G |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,875,089 (GRCm39) |
M673T |
possibly damaging |
Het |
| Cyp2u1 |
A |
G |
3: 131,087,258 (GRCm39) |
I441T |
possibly damaging |
Het |
| Disp2 |
T |
C |
2: 118,620,920 (GRCm39) |
S551P |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,206,535 (GRCm39) |
F1354I |
possibly damaging |
Het |
| Dstyk |
A |
G |
1: 132,381,063 (GRCm39) |
|
probably benign |
Het |
| Dzip1 |
T |
C |
14: 119,126,717 (GRCm39) |
N527S |
probably benign |
Het |
| Eomes |
A |
G |
9: 118,313,667 (GRCm39) |
I571V |
probably benign |
Het |
| Fbxl13 |
T |
C |
5: 21,689,034 (GRCm39) |
D758G |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,868,557 (GRCm39) |
S1457G |
probably damaging |
Het |
| Gabbr2 |
C |
T |
4: 46,718,838 (GRCm39) |
C613Y |
probably damaging |
Het |
| Gm9755 |
A |
T |
8: 67,967,710 (GRCm39) |
|
noncoding transcript |
Het |
| Hnrnpul2 |
A |
G |
19: 8,804,110 (GRCm39) |
R570G |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,810,320 (GRCm39) |
C588S |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,034,208 (GRCm39) |
H674R |
possibly damaging |
Het |
| Kdm5d |
T |
A |
Y: 910,539 (GRCm39) |
L250H |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 92,951,175 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,519,360 (GRCm39) |
N2250S |
probably benign |
Het |
| Kmt2e |
C |
T |
5: 23,707,653 (GRCm39) |
H1739Y |
probably damaging |
Het |
| Lmtk3 |
T |
A |
7: 45,444,427 (GRCm39) |
|
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,735,999 (GRCm39) |
D93G |
probably benign |
Het |
| Myh10 |
T |
C |
11: 68,682,676 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,172,413 (GRCm39) |
E1171K |
probably benign |
Het |
| Ncoa6 |
A |
T |
2: 155,253,440 (GRCm39) |
|
probably benign |
Het |
| Nup160 |
A |
G |
2: 90,563,563 (GRCm39) |
|
probably benign |
Het |
| Oit3 |
G |
A |
10: 59,264,016 (GRCm39) |
R373C |
probably damaging |
Het |
| Olfml2a |
A |
T |
2: 38,849,765 (GRCm39) |
I494L |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Or9r7 |
A |
G |
10: 129,962,522 (GRCm39) |
Y135H |
probably damaging |
Het |
| Parp6 |
G |
T |
9: 59,556,847 (GRCm39) |
C584F |
probably damaging |
Het |
| Pcgf2 |
A |
G |
11: 97,582,676 (GRCm39) |
|
probably benign |
Het |
| Pde3a |
T |
C |
6: 141,405,042 (GRCm39) |
|
probably benign |
Het |
| Pibf1 |
C |
T |
14: 99,350,409 (GRCm39) |
R186C |
probably damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,608,280 (GRCm39) |
D335G |
probably benign |
Het |
| Pkp4 |
T |
C |
2: 59,169,109 (GRCm39) |
L752P |
probably damaging |
Het |
| Plcb3 |
C |
A |
19: 6,939,281 (GRCm39) |
E566* |
probably null |
Het |
| Prune2 |
T |
C |
19: 17,102,586 (GRCm39) |
S2582P |
probably benign |
Het |
| Reln |
A |
T |
5: 22,239,773 (GRCm39) |
D831E |
probably benign |
Het |
| Samd9l |
T |
A |
6: 3,374,267 (GRCm39) |
D998V |
probably benign |
Het |
| Sardh |
G |
A |
2: 27,081,931 (GRCm39) |
T865I |
possibly damaging |
Het |
| Setbp1 |
G |
A |
18: 78,901,075 (GRCm39) |
T864I |
probably damaging |
Het |
| Slc9a1 |
T |
A |
4: 133,097,859 (GRCm39) |
M2K |
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,248,767 (GRCm39) |
T593A |
probably benign |
Het |
| Spata31e3 |
A |
T |
13: 50,402,296 (GRCm39) |
D83E |
possibly damaging |
Het |
| Svs5 |
A |
T |
2: 164,175,507 (GRCm39) |
I120L |
probably benign |
Het |
| Tcl1b1 |
G |
T |
12: 105,126,074 (GRCm39) |
V19F |
probably damaging |
Het |
| Urgcp |
T |
C |
11: 5,666,004 (GRCm39) |
N778S |
probably benign |
Het |
| Vnn1 |
A |
T |
10: 23,775,499 (GRCm39) |
I250F |
possibly damaging |
Het |
| Xntrpc |
A |
G |
7: 101,732,181 (GRCm39) |
R365G |
possibly damaging |
Het |
| Zfp84 |
T |
A |
7: 29,470,797 (GRCm39) |
M1K |
probably null |
Het |
| Zfyve26 |
G |
A |
12: 79,326,841 (GRCm39) |
R761C |
probably damaging |
Het |
| Zp3r |
A |
G |
1: 130,505,621 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
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'- TGCTGTGCTTTCTATCCAGTGTGAC -3'
(R):5'- ACAGGAATAGTTCCCCGAATCCGC -3'
Sequencing Primer
(F):5'- GTGGCTTTAGACTTAAAACCCC -3'
(R):5'- GATGAGAGTACAGCCTTCTCCAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation