Incidental Mutation 'R8428:Cdon'
| ID |
653606 |
| 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 |
067822-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.351)
|
| Stock # |
R8428 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
35332836-35418948 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35403163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1091
(V1091A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042842]
[ENSMUST00000119129]
|
| AlphaFold |
Q32MD9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042842
AA Change: V1091A
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000045547
Gene: ENSMUSG00000038119
AA Change: V1091A
| 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
AA Change: V1091A
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113977
Gene: ENSMUSG00000038119
AA Change: V1091A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
A |
G |
10: 126,923,175 (GRCm39) |
I670V |
unknown |
Het |
| Bcan |
G |
T |
3: 87,904,405 (GRCm39) |
T117K |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Cbx8 |
C |
A |
11: 118,929,754 (GRCm39) |
V280F |
probably damaging |
Het |
| Ccdc117 |
A |
T |
11: 5,484,350 (GRCm39) |
S163R |
possibly damaging |
Het |
| Ccdc17 |
A |
T |
4: 116,456,823 (GRCm39) |
I509F |
probably damaging |
Het |
| Cntnap5b |
C |
T |
1: 100,311,310 (GRCm39) |
T972I |
probably damaging |
Het |
| Dlg2 |
T |
C |
7: 90,740,240 (GRCm39) |
L9P |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,051,634 (GRCm39) |
R3053S |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,512,112 (GRCm39) |
N2983I |
probably damaging |
Het |
| Dnah7c |
T |
C |
1: 46,711,536 (GRCm39) |
Y2588H |
probably damaging |
Het |
| Dpysl5 |
A |
G |
5: 30,902,811 (GRCm39) |
D81G |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,653,884 (GRCm39) |
D1387G |
probably benign |
Het |
| Exd1 |
G |
T |
2: 119,369,348 (GRCm39) |
T89K |
possibly damaging |
Het |
| Ezh2 |
T |
A |
6: 47,522,745 (GRCm39) |
R364* |
probably null |
Het |
| Fam161b |
C |
T |
12: 84,404,369 (GRCm39) |
D104N |
probably benign |
Het |
| Fbxw8 |
C |
A |
5: 118,215,763 (GRCm39) |
V416L |
probably benign |
Het |
| Flnc |
A |
T |
6: 29,450,849 (GRCm39) |
D1499V |
probably benign |
Het |
| Fmc1 |
A |
T |
6: 38,516,115 (GRCm39) |
R54* |
probably null |
Het |
| Fzr1 |
A |
G |
10: 81,206,942 (GRCm39) |
F61S |
probably damaging |
Het |
| Get4 |
T |
G |
5: 139,251,393 (GRCm39) |
C160G |
probably benign |
Het |
| Gm32742 |
G |
A |
9: 51,055,675 (GRCm39) |
R1330* |
probably null |
Het |
| Gnat3 |
G |
A |
5: 18,220,312 (GRCm39) |
A225T |
possibly damaging |
Het |
| Gucy2c |
A |
G |
6: 136,704,892 (GRCm39) |
Y541H |
probably damaging |
Het |
| Hand2 |
A |
G |
8: 57,775,461 (GRCm39) |
T174A |
probably benign |
Het |
| Helb |
T |
C |
10: 119,927,522 (GRCm39) |
T863A |
probably damaging |
Het |
| Hoxa7 |
A |
T |
6: 52,194,993 (GRCm39) |
V2D |
unknown |
Het |
| Ifi44 |
G |
A |
3: 151,444,978 (GRCm39) |
R325* |
probably null |
Het |
| Igfn1 |
C |
T |
1: 135,895,520 (GRCm39) |
G1682E |
probably damaging |
Het |
| Itch |
A |
G |
2: 155,010,627 (GRCm39) |
N32D |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,744,923 (GRCm39) |
V1673A |
probably benign |
Het |
| Map1a |
A |
T |
2: 121,135,418 (GRCm39) |
D2078V |
probably benign |
Het |
| Mgat4b |
G |
T |
11: 50,121,512 (GRCm39) |
V35L |
probably benign |
Het |
| Micu3 |
G |
A |
8: 40,761,205 (GRCm39) |
M38I |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,387,241 (GRCm39) |
H706L |
probably damaging |
Het |
| Ndc1 |
A |
G |
4: 107,226,017 (GRCm39) |
T42A |
probably benign |
Het |
| Nfat5 |
T |
A |
8: 108,095,152 (GRCm39) |
M1131K |
probably damaging |
Het |
| Nop14 |
G |
A |
5: 34,798,784 (GRCm39) |
S648L |
probably damaging |
Het |
| Or51k1 |
G |
T |
7: 103,661,632 (GRCm39) |
Y92* |
probably null |
Het |
| Otogl |
A |
G |
10: 107,634,597 (GRCm39) |
V1413A |
probably damaging |
Het |
| Palb2 |
T |
A |
7: 121,711,224 (GRCm39) |
M967L |
possibly damaging |
Het |
| Pira12 |
G |
A |
7: 3,898,257 (GRCm39) |
T355I |
probably benign |
Het |
| Ppa2 |
A |
G |
3: 133,053,904 (GRCm39) |
K198R |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,565,756 (GRCm39) |
T30A |
probably benign |
Het |
| Prss50 |
C |
T |
9: 110,687,128 (GRCm39) |
R24C |
unknown |
Het |
| Rbm17 |
T |
C |
2: 11,605,441 (GRCm39) |
T38A |
possibly damaging |
Het |
| Rps6ka5 |
G |
A |
12: 100,541,500 (GRCm39) |
Q420* |
probably null |
Het |
| Senp6 |
G |
T |
9: 80,025,794 (GRCm39) |
R448L |
probably damaging |
Het |
| Senp7 |
T |
C |
16: 55,999,391 (GRCm39) |
I838T |
probably damaging |
Het |
| Sf3b2 |
C |
T |
19: 5,337,242 (GRCm39) |
S329N |
possibly damaging |
Het |
| Slc13a4 |
A |
T |
6: 35,245,814 (GRCm39) |
D610E |
probably benign |
Het |
| Slc24a2 |
A |
G |
4: 87,145,337 (GRCm39) |
L239P |
probably damaging |
Het |
| Slc39a5 |
T |
A |
10: 128,232,884 (GRCm39) |
H389L |
probably damaging |
Het |
| Syt4 |
A |
G |
18: 31,577,072 (GRCm39) |
L94P |
probably damaging |
Het |
| Tgm5 |
A |
G |
2: 120,879,356 (GRCm39) |
V560A |
probably benign |
Het |
| Thoc5 |
A |
G |
11: 4,876,115 (GRCm39) |
T623A |
probably damaging |
Het |
| Tm7sf2 |
C |
T |
19: 6,113,074 (GRCm39) |
V376I |
probably benign |
Het |
| Tmem268 |
T |
A |
4: 63,496,141 (GRCm39) |
V194E |
probably damaging |
Het |
| Tpr |
C |
A |
1: 150,290,564 (GRCm39) |
R798S |
probably damaging |
Het |
| Trpv5 |
G |
T |
6: 41,630,182 (GRCm39) |
T685K |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,584,774 (GRCm39) |
N22141K |
probably damaging |
Het |
| Txnrd2 |
T |
C |
16: 18,275,048 (GRCm39) |
I353T |
unknown |
Het |
| Upk1a |
A |
G |
7: 30,303,043 (GRCm39) |
Y252H |
probably damaging |
Het |
| Vmn2r118 |
A |
G |
17: 55,915,642 (GRCm39) |
I436T |
probably benign |
Het |
| Vmn2r76 |
T |
A |
7: 85,874,479 (GRCm39) |
I833F |
possibly damaging |
Het |
| Zfp277 |
T |
C |
12: 40,379,577 (GRCm39) |
H319R |
probably 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 |
|
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 |
|
|
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'- TAGCAGTTCAGCTGTAGGGG -3'
(R):5'- ATTAACAGTCTTACACCGAGGG -3'
Sequencing Primer
(F):5'- TAACATCGTGTGGGGCTCAC -3'
(R):5'- ACCGAGGGTGGTGGAGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation