Incidental Mutation 'R7060:Cdon'
ID |
548194 |
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 |
045157-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.351)
|
Stock # |
R7060 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
35332836-35418948 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35398205 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 974
(L974P)
|
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: L974P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045547 Gene: ENSMUSG00000038119 AA Change: L974P
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: L974P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113977 Gene: ENSMUSG00000038119 AA Change: L974P
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
96% (78/81) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
T |
A |
9: 44,186,425 (GRCm39) |
T535S |
probably benign |
Het |
Adamts19 |
A |
T |
18: 58,970,712 (GRCm39) |
R99* |
probably null |
Het |
Alg6 |
C |
T |
4: 99,650,198 (GRCm39) |
L473F |
possibly damaging |
Het |
Ankar |
A |
T |
1: 72,695,272 (GRCm39) |
N893K |
probably benign |
Het |
Ankrd54 |
G |
A |
15: 78,939,739 (GRCm39) |
A183V |
possibly damaging |
Het |
Anpep |
G |
T |
7: 79,491,542 (GRCm39) |
T153K |
probably benign |
Het |
Arap1 |
A |
G |
7: 101,058,564 (GRCm39) |
|
probably null |
Het |
Aspg |
A |
T |
12: 112,089,387 (GRCm39) |
T392S |
probably benign |
Het |
B230307C23Rik |
A |
C |
16: 97,811,331 (GRCm39) |
R68S |
probably benign |
Het |
Bdp1 |
G |
C |
13: 100,196,002 (GRCm39) |
N1253K |
probably damaging |
Het |
Ccrl2 |
G |
A |
9: 110,884,682 (GRCm39) |
S272F |
probably damaging |
Het |
Celsr1 |
C |
A |
15: 85,916,856 (GRCm39) |
E372D |
probably benign |
Het |
Cers1 |
A |
T |
8: 70,768,555 (GRCm39) |
M16L |
possibly damaging |
Het |
Col2a1 |
G |
T |
15: 97,874,022 (GRCm39) |
Q1387K |
unknown |
Het |
Ddx39b |
G |
A |
17: 35,471,726 (GRCm39) |
V291M |
probably damaging |
Het |
Dppa2 |
T |
A |
16: 48,136,076 (GRCm39) |
S143T |
probably benign |
Het |
Dpy19l1 |
A |
T |
9: 24,334,419 (GRCm39) |
M583K |
possibly damaging |
Het |
Eno3 |
A |
T |
11: 70,552,245 (GRCm39) |
D299V |
possibly damaging |
Het |
Epha8 |
C |
T |
4: 136,658,469 (GRCm39) |
V969M |
probably damaging |
Het |
Fcgbp |
A |
T |
7: 27,791,358 (GRCm39) |
H873L |
probably benign |
Het |
Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
Fntb |
A |
C |
12: 76,934,649 (GRCm39) |
N173T |
possibly damaging |
Het |
Gins2 |
T |
A |
8: 121,308,880 (GRCm39) |
M125L |
probably benign |
Het |
Gys1 |
G |
A |
7: 45,089,437 (GRCm39) |
A199T |
probably damaging |
Het |
Herpud1 |
C |
A |
8: 95,117,391 (GRCm39) |
H116N |
probably benign |
Het |
Hoga1 |
C |
A |
19: 42,048,685 (GRCm39) |
Y134* |
probably null |
Het |
Il10ra |
A |
G |
9: 45,167,522 (GRCm39) |
I343T |
probably benign |
Het |
Inava |
T |
C |
1: 136,147,935 (GRCm39) |
K339R |
possibly damaging |
Het |
Inpp5j |
C |
T |
11: 3,450,133 (GRCm39) |
|
probably null |
Het |
Itpkb |
T |
C |
1: 180,160,695 (GRCm39) |
S274P |
probably damaging |
Het |
Kalrn |
C |
T |
16: 34,177,418 (GRCm39) |
C249Y |
probably damaging |
Het |
Klhl35 |
G |
C |
7: 99,117,665 (GRCm39) |
A70P |
possibly damaging |
Het |
Lhx1 |
A |
G |
11: 84,411,108 (GRCm39) |
|
probably null |
Het |
Lmbrd1 |
T |
C |
1: 24,732,047 (GRCm39) |
V88A |
probably benign |
Het |
Macc1 |
T |
G |
12: 119,411,190 (GRCm39) |
L653V |
probably damaging |
Het |
Madd |
T |
C |
2: 91,007,452 (GRCm39) |
D220G |
probably damaging |
Het |
Mllt10 |
T |
A |
2: 18,164,371 (GRCm39) |
H300Q |
possibly damaging |
Het |
Mlxipl |
G |
A |
5: 135,161,169 (GRCm39) |
A363T |
possibly damaging |
Het |
Mus81 |
G |
T |
19: 5,537,821 (GRCm39) |
D78E |
probably benign |
Het |
Mxd1 |
A |
T |
6: 86,630,141 (GRCm39) |
L26M |
probably damaging |
Het |
Nhsl1 |
C |
T |
10: 18,402,251 (GRCm39) |
T1159M |
probably damaging |
Het |
Nos1ap |
A |
G |
1: 170,165,694 (GRCm39) |
S190P |
possibly damaging |
Het |
Nwd1 |
A |
C |
8: 73,393,322 (GRCm39) |
D195A |
probably damaging |
Het |
Or12d13 |
G |
T |
17: 37,647,352 (GRCm39) |
T257N |
probably benign |
Het |
Or6k4 |
A |
T |
1: 173,964,376 (GRCm39) |
D22V |
probably benign |
Het |
Or8c14-ps1 |
G |
A |
9: 38,101,392 (GRCm39) |
V124I |
probably damaging |
Het |
Or8k24 |
T |
A |
2: 86,216,569 (GRCm39) |
R64S |
possibly damaging |
Het |
Otof |
T |
C |
5: 30,545,700 (GRCm39) |
D500G |
possibly damaging |
Het |
Pcgf5 |
T |
A |
19: 36,420,339 (GRCm39) |
Y190* |
probably null |
Het |
Pdcd11 |
C |
T |
19: 47,099,418 (GRCm39) |
T839I |
probably benign |
Het |
Ppard |
G |
C |
17: 28,517,886 (GRCm39) |
S318T |
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,597,970 (GRCm39) |
K178E |
probably damaging |
Het |
Ppm1n |
G |
T |
7: 19,013,187 (GRCm39) |
R255S |
probably damaging |
Het |
Ppp1r21 |
A |
G |
17: 88,887,972 (GRCm39) |
Y693C |
probably damaging |
Het |
Ppp2r5d |
A |
T |
17: 46,998,279 (GRCm39) |
V169E |
possibly damaging |
Het |
Prc1 |
A |
T |
7: 79,954,121 (GRCm39) |
T53S |
probably benign |
Het |
Pwp2 |
A |
C |
10: 78,009,084 (GRCm39) |
|
probably null |
Het |
Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
Ring1 |
A |
G |
17: 34,242,364 (GRCm39) |
C48R |
probably damaging |
Het |
Rpap1 |
T |
C |
2: 119,604,043 (GRCm39) |
D496G |
probably damaging |
Het |
Rspo4 |
C |
A |
2: 151,714,998 (GRCm39) |
Q212K |
unknown |
Het |
Samd9l |
T |
A |
6: 3,372,716 (GRCm39) |
D1515V |
probably damaging |
Het |
Serinc3 |
T |
C |
2: 163,478,879 (GRCm39) |
T83A |
probably benign |
Het |
Setd5 |
A |
C |
6: 113,094,343 (GRCm39) |
D420A |
probably damaging |
Het |
Sidt2 |
T |
C |
9: 45,864,544 (GRCm39) |
T62A |
possibly damaging |
Het |
Smarcal1 |
T |
C |
1: 72,652,101 (GRCm39) |
V621A |
probably damaging |
Het |
Srcin1 |
A |
G |
11: 97,464,711 (GRCm39) |
L12P |
probably damaging |
Het |
Stx18 |
G |
A |
5: 38,278,599 (GRCm39) |
D165N |
possibly damaging |
Het |
Sumf2 |
A |
G |
5: 129,883,341 (GRCm39) |
K139E |
possibly damaging |
Het |
Tdo2 |
A |
T |
3: 81,876,866 (GRCm39) |
I102N |
probably damaging |
Het |
Tdp1 |
T |
A |
12: 99,877,947 (GRCm39) |
S410T |
probably benign |
Het |
Tmem94 |
A |
T |
11: 115,683,764 (GRCm39) |
I726F |
probably damaging |
Het |
Ttc21a |
A |
G |
9: 119,795,742 (GRCm39) |
E1192G |
probably damaging |
Het |
Ttc8 |
T |
C |
12: 98,909,726 (GRCm39) |
I52T |
probably benign |
Het |
Vmn2r99 |
A |
T |
17: 19,614,826 (GRCm39) |
R849* |
probably null |
Het |
Wwc1 |
T |
C |
11: 35,806,003 (GRCm39) |
K77E |
possibly damaging |
Het |
Xirp2 |
A |
T |
2: 67,345,952 (GRCm39) |
E2731V |
probably damaging |
Het |
Zfp1006 |
A |
C |
8: 129,945,613 (GRCm39) |
I404R |
probably benign |
Het |
Zfp423 |
G |
A |
8: 88,509,507 (GRCm39) |
T258I |
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 |
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'- AGCCTATTTCGTAAGCTCTGTATCC -3'
(R):5'- ACAGCTTTCATTCCATGGCAC -3'
Sequencing Primer
(F):5'- CGTAAGCTCTGTATCCACTCTAAC -3'
(R):5'- GGCACAAATATGTGAGAGT -3'
|
Posted On |
2019-05-13 |