Incidental Mutation 'R9200:Cdon'
| ID |
698180 |
| 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 |
068957-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.351)
|
| Stock # |
R9200 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
35332836-35418948 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35414617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1164
(D1164G)
|
| 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: D1164G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000045547
Gene: ENSMUSG00000038119
AA Change: D1164G
| 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: D1164G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113977
Gene: ENSMUSG00000038119
AA Change: D1164G
| 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 |
0.0738 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (71/72) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
C |
A |
7: 119,179,839 (GRCm39) |
Y352* |
probably null |
Het |
| Adh7 |
C |
T |
3: 137,927,567 (GRCm39) |
R38C |
probably benign |
Het |
| Ankrd2 |
A |
T |
19: 42,028,871 (GRCm39) |
T145S |
|
Het |
| Anpep |
T |
C |
7: 79,490,870 (GRCm39) |
N241D |
probably benign |
Het |
| Apaf1 |
G |
A |
10: 90,845,102 (GRCm39) |
L990F |
probably benign |
Het |
| Arsi |
A |
G |
18: 61,049,836 (GRCm39) |
T240A |
possibly damaging |
Het |
| Ascc3 |
A |
G |
10: 50,521,787 (GRCm39) |
E434G |
possibly damaging |
Het |
| Atp2c2 |
A |
T |
8: 120,474,999 (GRCm39) |
K535* |
probably null |
Het |
| B3galt4 |
A |
G |
17: 34,170,384 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
C |
G |
16: 95,839,154 (GRCm39) |
C839S |
probably benign |
Het |
| Cars1 |
C |
T |
7: 143,129,654 (GRCm39) |
|
probably null |
Het |
| Catsperd |
T |
A |
17: 56,935,229 (GRCm39) |
V14D |
unknown |
Het |
| Ccdc150 |
A |
C |
1: 54,299,197 (GRCm39) |
T58P |
probably damaging |
Het |
| Cdhr17 |
T |
C |
5: 17,006,659 (GRCm39) |
|
probably null |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cic |
A |
C |
7: 24,971,940 (GRCm39) |
D557A |
probably damaging |
Het |
| Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
| Dach1 |
G |
T |
14: 98,065,743 (GRCm39) |
R695S |
probably damaging |
Het |
| Ddc |
T |
C |
11: 11,765,388 (GRCm39) |
N428S |
possibly damaging |
Het |
| Dnah6 |
G |
A |
6: 73,004,497 (GRCm39) |
T3822I |
probably benign |
Het |
| Dnmt1 |
T |
A |
9: 20,819,896 (GRCm39) |
M1535L |
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,617,051 (GRCm39) |
|
probably null |
Het |
| Emilin2 |
A |
G |
17: 71,581,229 (GRCm39) |
I499T |
possibly damaging |
Het |
| Etl4 |
A |
G |
2: 20,786,702 (GRCm39) |
D766G |
probably damaging |
Het |
| Fes |
T |
C |
7: 80,032,140 (GRCm39) |
Q414R |
probably benign |
Het |
| Fhod1 |
A |
G |
8: 106,058,072 (GRCm39) |
V844A |
probably benign |
Het |
| Fshr |
A |
T |
17: 89,354,103 (GRCm39) |
V85E |
probably benign |
Het |
| Gc |
T |
C |
5: 89,593,236 (GRCm39) |
N61S |
probably benign |
Het |
| Hapstr1 |
T |
C |
16: 8,673,898 (GRCm39) |
L275P |
possibly damaging |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Itga1 |
A |
T |
13: 115,104,997 (GRCm39) |
I1059N |
possibly damaging |
Het |
| Itpr3 |
T |
A |
17: 27,326,636 (GRCm39) |
V1426E |
probably damaging |
Het |
| Jag1 |
T |
A |
2: 136,929,044 (GRCm39) |
Y804F |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,605,297 (GRCm39) |
T1084A |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,760,791 (GRCm39) |
D4952G |
probably benign |
Het |
| Mmrn1 |
A |
G |
6: 60,953,860 (GRCm39) |
T714A |
probably damaging |
Het |
| Nab1 |
T |
A |
1: 52,529,525 (GRCm39) |
H124L |
possibly damaging |
Het |
| Nacc2 |
A |
G |
2: 25,980,118 (GRCm39) |
F106S |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,320,425 (GRCm39) |
I2006T |
probably damaging |
Het |
| Nkpd1 |
C |
A |
7: 19,257,683 (GRCm39) |
H487Q |
probably benign |
Het |
| Nop2 |
G |
A |
6: 125,117,843 (GRCm39) |
|
probably null |
Het |
| Or10ag54 |
T |
A |
2: 87,100,055 (GRCm39) |
M310K |
probably benign |
Het |
| Or5b124 |
A |
G |
19: 13,610,595 (GRCm39) |
N40S |
probably damaging |
Het |
| Otud6b |
A |
T |
4: 14,811,712 (GRCm39) |
Y310* |
probably null |
Het |
| Phyh |
A |
T |
2: 4,932,247 (GRCm39) |
Y111F |
probably benign |
Het |
| Pon3 |
A |
G |
6: 5,240,863 (GRCm39) |
L106P |
probably benign |
Het |
| Ppp6r3 |
T |
C |
19: 3,519,748 (GRCm39) |
D615G |
probably damaging |
Het |
| Pramel23 |
G |
A |
4: 143,423,856 (GRCm39) |
P311L |
possibly damaging |
Het |
| Prdm10 |
G |
A |
9: 31,268,438 (GRCm39) |
V796I |
probably damaging |
Het |
| Prkdc |
G |
T |
16: 15,523,153 (GRCm39) |
V1192F |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Rab39 |
T |
C |
9: 53,597,665 (GRCm39) |
N200S |
probably benign |
Het |
| Rcc2 |
A |
G |
4: 140,445,664 (GRCm39) |
I441V |
probably benign |
Het |
| Rxra |
G |
A |
2: 27,627,496 (GRCm39) |
V72I |
possibly damaging |
Het |
| Ryr1 |
T |
G |
7: 28,794,524 (GRCm39) |
Q1252P |
probably benign |
Het |
| Sectm1a |
T |
C |
11: 120,960,473 (GRCm39) |
Y114C |
probably damaging |
Het |
| Smim1 |
T |
C |
4: 154,108,276 (GRCm39) |
|
probably null |
Het |
| Smpd2 |
C |
T |
10: 41,363,561 (GRCm39) |
D301N |
probably benign |
Het |
| Smyd3 |
T |
C |
1: 179,232,963 (GRCm39) |
D139G |
probably benign |
Het |
| Sox13 |
C |
T |
1: 133,313,743 (GRCm39) |
C399Y |
probably damaging |
Het |
| Tars3 |
A |
G |
7: 65,302,013 (GRCm39) |
E179G |
probably benign |
Het |
| Tas2r138 |
A |
G |
6: 40,589,494 (GRCm39) |
F251L |
probably damaging |
Het |
| Tesk1 |
A |
G |
4: 43,447,307 (GRCm39) |
E565G |
probably damaging |
Het |
| Tm2d1 |
A |
T |
4: 98,246,200 (GRCm39) |
F201I |
possibly damaging |
Het |
| Tom1l2 |
C |
A |
11: 60,120,942 (GRCm39) |
D501Y |
probably benign |
Het |
| Trim39 |
G |
T |
17: 36,579,667 (GRCm39) |
T96K |
probably benign |
Het |
| Ubash3a |
A |
G |
17: 31,436,971 (GRCm39) |
H196R |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,257,352 (GRCm39) |
E1206G |
possibly damaging |
Het |
| Usp17lc |
A |
T |
7: 103,068,105 (GRCm39) |
T467S |
probably benign |
Het |
| Vmn1r128 |
T |
C |
7: 21,083,316 (GRCm39) |
S7P |
possibly damaging |
Het |
| Vmn1r185 |
T |
A |
7: 26,311,073 (GRCm39) |
H144L |
possibly damaging |
Het |
| Wfdc6b |
A |
T |
2: 164,455,708 (GRCm39) |
R12S |
possibly damaging |
Het |
| Zmynd8 |
A |
T |
2: 165,682,005 (GRCm39) |
D175E |
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 |
|
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 |
|
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'- TGATGCCCCTAAACACTCAG -3'
(R):5'- CTTCTAAGTGTTCTGTGAGCCC -3'
Sequencing Primer
(F):5'- TCTTGGCTTAAACTCTACAGGTG -3'
(R):5'- TAAGTGTTCTGTGAGCCCACCATG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation