Incidental Mutation 'R2031:Cdon'
| ID |
221246 |
| 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 |
040038-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R2031 (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 35415370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1203
(S1203P)
|
| 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: S1203P
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000045547
Gene: ENSMUSG00000038119
AA Change: S1203P
| 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: S1203P
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113977
Gene: ENSMUSG00000038119
AA Change: S1203P
| 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: ENSMUST00000157980
|
| Meta Mutation Damage Score |
0.3571 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
98% (55/56) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
G |
T |
5: 121,639,118 (GRCm39) |
N642K |
possibly damaging |
Het |
| Akap11 |
T |
A |
14: 78,747,477 (GRCm39) |
I1637L |
possibly damaging |
Het |
| Aoc1l1 |
T |
C |
6: 48,952,789 (GRCm39) |
V238A |
probably damaging |
Het |
| Arhgap28 |
G |
T |
17: 68,203,111 (GRCm39) |
T114N |
probably damaging |
Het |
| Arid5b |
A |
G |
10: 68,114,518 (GRCm39) |
|
probably null |
Het |
| Atp10a |
T |
A |
7: 58,477,678 (GRCm39) |
C1292* |
probably null |
Het |
| Casp4 |
A |
G |
9: 5,321,401 (GRCm39) |
S51G |
probably benign |
Het |
| Cast |
T |
C |
13: 74,946,771 (GRCm39) |
|
probably null |
Het |
| Ccdc87 |
T |
C |
19: 4,891,715 (GRCm39) |
F736L |
probably damaging |
Het |
| Cep290 |
G |
A |
10: 100,348,262 (GRCm39) |
|
probably null |
Het |
| Cep85 |
A |
G |
4: 133,859,761 (GRCm39) |
V634A |
probably benign |
Het |
| Cpeb3 |
C |
T |
19: 37,022,079 (GRCm39) |
R589H |
probably damaging |
Het |
| Crebrf |
T |
G |
17: 26,961,895 (GRCm39) |
S331A |
probably damaging |
Het |
| Cul5 |
A |
G |
9: 53,578,480 (GRCm39) |
V36A |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,618,297 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
G |
A |
1: 132,380,929 (GRCm39) |
A475T |
probably damaging |
Het |
| Enpp6 |
C |
A |
8: 47,506,649 (GRCm39) |
P151Q |
probably damaging |
Het |
| Fan1 |
A |
G |
7: 64,004,172 (GRCm39) |
Y765H |
probably damaging |
Het |
| Hsfy2 |
A |
T |
1: 56,675,476 (GRCm39) |
S354T |
probably benign |
Het |
| Ifi204 |
A |
C |
1: 173,580,343 (GRCm39) |
F389C |
probably damaging |
Het |
| Ikbip |
T |
C |
10: 90,932,474 (GRCm39) |
Y373H |
probably benign |
Het |
| Kbtbd11 |
C |
A |
8: 15,078,021 (GRCm39) |
P207T |
possibly damaging |
Het |
| Krt73 |
A |
C |
15: 101,707,199 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
T |
A |
1: 52,748,013 (GRCm39) |
Q284L |
probably benign |
Het |
| Mmp1b |
T |
A |
9: 7,368,607 (GRCm39) |
D415V |
possibly damaging |
Het |
| Mrc1 |
A |
T |
2: 14,326,584 (GRCm39) |
T1161S |
probably damaging |
Het |
| Ms4a18 |
A |
G |
19: 10,991,014 (GRCm39) |
S27P |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,426,028 (GRCm39) |
R2366S |
probably damaging |
Het |
| Nfkbia |
A |
G |
12: 55,537,937 (GRCm39) |
L172P |
probably damaging |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Or1d2 |
A |
G |
11: 74,255,777 (GRCm39) |
Y94C |
probably damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,341,105 (GRCm39) |
F12S |
probably damaging |
Het |
| Or4c107 |
A |
G |
2: 88,789,643 (GRCm39) |
T278A |
probably benign |
Het |
| Or51f1e |
A |
G |
7: 102,747,371 (GRCm39) |
Y141C |
probably damaging |
Het |
| Or5an10 |
A |
T |
19: 12,275,740 (GRCm39) |
V252D |
probably damaging |
Het |
| Or5b112 |
T |
C |
19: 13,319,770 (GRCm39) |
L216S |
probably benign |
Het |
| Parvb |
A |
T |
15: 84,167,036 (GRCm39) |
Y117F |
probably benign |
Het |
| Plch2 |
A |
G |
4: 155,127,484 (GRCm39) |
|
probably benign |
Het |
| Plxnb2 |
A |
T |
15: 89,047,013 (GRCm39) |
C769* |
probably null |
Het |
| Plxnc1 |
G |
T |
10: 94,779,529 (GRCm39) |
D304E |
probably benign |
Het |
| Prkg2 |
T |
C |
5: 99,172,310 (GRCm39) |
D135G |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,153,448 (GRCm39) |
D635G |
probably benign |
Het |
| Rapgef6 |
T |
G |
11: 54,443,684 (GRCm39) |
V89G |
probably benign |
Het |
| Ror2 |
T |
A |
13: 53,271,366 (GRCm39) |
T330S |
probably benign |
Het |
| Ros1 |
A |
G |
10: 51,943,164 (GRCm39) |
V2050A |
possibly damaging |
Het |
| Serpinb6e |
T |
C |
13: 34,021,733 (GRCm39) |
|
probably benign |
Het |
| Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
| Smarca4 |
T |
C |
9: 21,597,358 (GRCm39) |
V1371A |
possibly damaging |
Het |
| Syvn1 |
G |
A |
19: 6,100,560 (GRCm39) |
R317H |
probably damaging |
Het |
| Tdo2 |
T |
A |
3: 81,876,812 (GRCm39) |
D139V |
probably damaging |
Het |
| Tmem130 |
A |
G |
5: 144,689,236 (GRCm39) |
V135A |
possibly damaging |
Het |
| Tpr |
A |
T |
1: 150,317,870 (GRCm39) |
Q2126L |
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,706,062 (GRCm39) |
M324V |
possibly damaging |
Het |
| Ubxn10 |
A |
G |
4: 138,448,574 (GRCm39) |
M34T |
possibly damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,659,717 (GRCm39) |
W154R |
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 |
|
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'- TCAAGATGCTTTCTTAGGGTCTC -3'
(R):5'- AACACGAAGAGGTCTGCTCAC -3'
Sequencing Primer
(F):5'- AAGATGCTTTCTTAGGGTCTCTTAAG -3'
(R):5'- GAAGAGGTCTGCTCACACTCCTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation