Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02547:Cdon'

297857

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdon

Ensembl Gene

ENSMUSG00000038119

Gene Name

cell adhesion molecule-related/down-regulated by oncogenes

Synonyms

CAM-related/down-regulated by oncogenes, CDO

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.351) question?

Stock #

IGL02547

Quality Score

Status

Chromosome

Chromosomal Location

35332836-35418948 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35389950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 868 (D868G)

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: D868G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045547
Gene: ENSMUSG00000038119
AA Change: D868G

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: ENSMUST00000084000

Predicted Effect

probably damaging
Transcript: ENSMUST00000119129
AA Change: D868G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113977
Gene: ENSMUSG00000038119
AA Change: D868G

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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 53,187,479 (GRCm39)	L1631H	probably damaging	Het
Atf7ip	T	A	6: 136,580,274 (GRCm39)		probably benign	Het
Atp5po	A	T	16: 91,725,849 (GRCm39)	Y48N	probably damaging	Het
Birc6	T	G	17: 74,886,640 (GRCm39)	M656R	probably benign	Het
Camkk1	A	G	11: 72,929,259 (GRCm39)	R455G	probably benign	Het
Casr	A	T	16: 36,336,036 (GRCm39)	M91K	probably benign	Het
Ccdc28a	A	T	10: 18,089,894 (GRCm39)	V124D	possibly damaging	Het
Ccnh	T	C	13: 85,350,623 (GRCm39)		probably benign	Het
Cdc37	G	T	9: 21,051,262 (GRCm39)		probably benign	Het
Cstdc3	A	T	16: 36,132,888 (GRCm39)		probably benign	Het
Cyp4f15	A	G	17: 32,919,229 (GRCm39)	R351G	probably benign	Het
Dclk3	T	C	9: 111,298,091 (GRCm39)	I545T	probably damaging	Het
Dock4	A	G	12: 40,787,478 (GRCm39)	M798V	probably benign	Het
Gas7	A	T	11: 67,556,261 (GRCm39)	Q200L	probably damaging	Het
Ica1	T	C	6: 8,670,691 (GRCm39)		probably null	Het
Idh3a	T	A	9: 54,499,679 (GRCm39)	V31D	probably benign	Het
Il3ra	A	T	14: 14,351,970 (GRCm38)	T247S	probably benign	Het
Itgb7	A	G	15: 102,126,945 (GRCm39)	C497R	probably damaging	Het
Itm2c	T	C	1: 85,834,182 (GRCm39)	Y166H	probably damaging	Het
Mphosph8	A	G	14: 56,909,941 (GRCm39)	D98G	probably damaging	Het
Mstn	A	T	1: 53,103,284 (GRCm39)	I207F	probably benign	Het
Muc15	A	G	2: 110,561,650 (GRCm39)	R29G	probably damaging	Het
Neb	T	A	2: 52,078,742 (GRCm39)	T142S	probably damaging	Het
Nipbl	G	A	15: 8,381,082 (GRCm39)	T570I	probably benign	Het
Nr5a2	T	A	1: 136,868,665 (GRCm39)	M196L	probably benign	Het
Nrp1	C	A	8: 129,219,512 (GRCm39)	F643L	probably benign	Het
Or52ad1	A	G	7: 102,995,451 (GRCm39)	F228S	probably damaging	Het
Or52z15	T	C	7: 103,331,973 (GRCm39)	I16T	probably benign	Het
Or5a3	A	T	19: 12,399,675 (GRCm39)	M1L	probably benign	Het
Or8h8	A	G	2: 86,753,372 (GRCm39)	F168S	probably damaging	Het
Osbpl9	C	T	4: 108,925,680 (GRCm39)	W446*	probably null	Het
Pced1a	T	C	2: 130,261,627 (GRCm39)	D342G	possibly damaging	Het
Pira13	T	C	7: 3,824,660 (GRCm39)	D573G	probably damaging	Het
Prkcd	C	A	14: 30,321,426 (GRCm39)	W555L	probably damaging	Het
Prpf31	T	C	7: 3,633,898 (GRCm39)	S78P	probably benign	Het
Psg27	T	C	7: 18,294,553 (GRCm39)	T285A	probably benign	Het
Retreg3	A	T	11: 100,997,204 (GRCm39)	L92*	probably null	Het
Rmdn1	A	G	4: 19,605,501 (GRCm39)	K282E	possibly damaging	Het
Septin8	G	T	11: 53,428,092 (GRCm39)	R302L	probably damaging	Het
Serpina3a	A	G	12: 104,082,802 (GRCm39)	I192V	probably damaging	Het
Sgce	T	C	6: 4,711,301 (GRCm39)		probably benign	Het
Slco1a8	A	T	6: 141,936,116 (GRCm39)	L323Q	probably damaging	Het
Spats1	A	T	17: 45,785,743 (GRCm39)		probably benign	Het
Tcerg1l	C	T	7: 137,850,100 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,559,730 (GRCm39)	V21230A	probably damaging	Het
Ubxn11	A	C	4: 133,836,895 (GRCm39)	D41A	possibly damaging	Het
Vps13c	T	G	9: 67,815,301 (GRCm39)	I979S	possibly damaging	Het
Zc3h6	T	A	2: 128,857,531 (GRCm39)	H683Q	probably benign	Het
Zfp1007	C	T	5: 109,826,628 (GRCm39)		probably null	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp629	T	C	7: 127,210,846 (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
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
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

Posted On

2015-04-16