Mutagenetix > Incidental Mutations

Incidental Mutation 'R7885:Cdon'

609012

Institutional Source

Beutler Lab

Gene Symbol

Cdon

Ensembl Gene

ENSMUSG00000038119

Gene Name

cell adhesion molecule-related/down-regulated by oncogenes

Synonyms

CDO, CAM-related/down-regulated by oncogenes

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.399) question?

Stock #

R7885 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35421128-35507652 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35456522 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 238 (V238I)

Ref Sequence

ENSEMBL: ENSMUSP00000045547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042842] [ENSMUST00000119129] [ENSMUST00000137200] [ENSMUST00000151682] [ENSMUST00000154652]

Predicted Effect

probably benign
Transcript: ENSMUST00000042842
AA Change: V238I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000045547
Gene: ENSMUSG00000038119
AA Change: V238I

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: V238I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113977
Gene: ENSMUSG00000038119
AA Change: V238I

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: ENSMUST00000127264

SMART Domains

Protein: ENSMUSP00000115216
Gene: ENSMUSG00000038119

Domain	Start	End	E-Value	Type
IGc2	1	51	6.26e-5	SMART
IG_like	18	62	1.06e2	SMART
IGc2	81	134	6.45e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137200

Predicted Effect

probably benign
Transcript: ENSMUST00000151682

SMART Domains

Protein: ENSMUSP00000119206
Gene: ENSMUSG00000038119

Domain	Start	End	E-Value	Type
IGc2	40	103	1.35e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154652
AA Change: V238I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000117499
Gene: ENSMUSG00000038119
AA Change: V238I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	C	18: 12,189,314	L608P	probably damaging	Het
Adarb1	A	G	10: 77,295,708	V649A	possibly damaging	Het
Arglu1	C	T	8: 8,667,337	R244H	possibly damaging	Het
Asic5	A	T	3: 82,006,505	Y204F	probably benign	Het
Asz1	A	G	6: 18,104,877	F76S	probably damaging	Het
Bin1	G	A	18: 32,419,843	A174T	probably damaging	Het
Bnipl	A	C	3: 95,250,240	S23A	probably benign	Het
Cd19	T	C	7: 126,412,131	T294A	probably benign	Het
Chd3	A	T	11: 69,356,625	D957E	probably benign	Het
Crhbp	T	C	13: 95,432,007	Q307R	probably damaging	Het
Cst3	A	G	2: 148,872,821	M112T	probably benign	Het
Dgkb	A	G	12: 38,139,426	E276G	probably damaging	Het
Exoc4	T	A	6: 33,758,066	N539K	probably benign	Het
Gm3099	A	G	14: 3,999,461	E85G	probably benign	Het
Gpatch2	A	G	1: 187,225,501		probably null	Het
Hs3st5	T	A	10: 36,828,780	Y26*	probably null	Het
Hspg2	A	T	4: 137,516,837	D802V	probably damaging	Het
Ifih1	A	G	2: 62,601,469	V846A	possibly damaging	Het
Lama4	T	A	10: 39,088,844	S1402T	probably benign	Het
Lrmda	A	G	14: 22,598,320	T73A	unknown	Het
Lrrc1	A	T	9: 77,442,189	V365E	probably damaging	Het
Lrrc37a	T	A	11: 103,503,042	Q519L	probably benign	Het
Mlc1	G	T	15: 88,977,904	D36E	probably benign	Het
Mrc2	A	T	11: 105,332,266	D445V	probably damaging	Het
Muc16	A	G	9: 18,639,464	S5178P	probably benign	Het
Nbea	A	G	3: 55,665,689	I2491T	probably damaging	Het
Ncoa1	A	G	12: 4,339,044	I77T	probably damaging	Het
Npepps	G	T	11: 97,218,648	H701N	probably damaging	Het
Olfr733	T	G	14: 50,298,584	T242P	probably damaging	Het
Olfr837	A	T	9: 19,137,535	I181F	possibly damaging	Het
Pclo	GTCTAT	GTCTATTCTAT	5: 14,714,190		probably null	Het
Pclo	TCTAT	TCTATACTAT	5: 14,714,191		probably null	Het
Pclo	T	TTCTAG	5: 14,714,195		probably null	Het
Pi4kb	T	C	3: 94,999,076	Y645H	probably damaging	Het
Pik3r5	C	T	11: 68,492,702	A449V	possibly damaging	Het
Plat	A	G	8: 22,771,720	T45A	probably benign	Het
Platr25	T	C	13: 62,700,862	K62R	possibly damaging	Het
Ppp5c	A	G	7: 17,006,186	V410A	possibly damaging	Het
Prdm2	C	T	4: 143,134,570	A717T	probably benign	Het
Pstpip2	C	A	18: 77,794,722	T2K	probably benign	Het
Ptpn12	A	C	5: 20,998,525	S418R	possibly damaging	Het
Rint1	A	G	5: 23,805,644	S255G	probably benign	Het
Sltm	C	G	9: 70,586,673	P802R	possibly damaging	Het
Stab2	T	C	10: 86,878,912	H1581R	probably benign	Het
Stau2	T	C	1: 16,460,353	Y114C	unknown	Het
Ticam1	T	C	17: 56,271,067	T343A	probably benign	Het
Tmem131l	T	C	3: 83,910,417	K1259E	possibly damaging	Het
Vmn2r103	T	A	17: 19,793,123	F169I	probably benign	Het
Vps33a	T	C	5: 123,535,249	K425E	possibly damaging	Het
Vwa8	T	C	14: 79,020,649	M746T	probably benign	Het
Zc3hav1	A	G	6: 38,336,663	I149T	possibly damaging	Het
Zfp708	A	T	13: 67,074,129	D62E	probably benign	Het

Other mutations in Cdon

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Cdon	APN	9	35478116	missense	probably damaging	1.00
IGL01307:Cdon	APN	9	35457564	missense	probably benign	0.01
IGL01528:Cdon	APN	9	35470107	missense	possibly damaging	0.95
IGL01663:Cdon	APN	9	35483214	missense	possibly damaging	0.57
IGL01723:Cdon	APN	9	35503338	missense	probably benign	0.05
IGL02200:Cdon	APN	9	35483109	missense	probably benign	0.28
IGL02444:Cdon	APN	9	35473448	missense	probably benign	0.09
IGL02547:Cdon	APN	9	35478654	missense	probably damaging	1.00
IGL02620:Cdon	APN	9	35452799	missense	probably benign	0.00
IGL02861:Cdon	APN	9	35486957	missense	probably damaging	0.96
IGL02894:Cdon	APN	9	35455426	missense	probably benign	0.01
IGL03153:Cdon	APN	9	35477959	missense	probably damaging	1.00
IGL03206:Cdon	APN	9	35503306	missense	probably benign
IGL03374:Cdon	APN	9	35478003	missense	possibly damaging	0.46
corleone	UTSW	9	35486956	nonsense	probably null
indentured	UTSW	9	35452106	start codon destroyed	probably null	1.00
Molar	UTSW	9	35463895	missense	probably benign	0.15
Servitude	UTSW	9	35476948	missense	probably damaging	1.00
PIT4280001:Cdon	UTSW	9	35486935	missense	probably damaging	1.00
R0045:Cdon	UTSW	9	35486807	missense	probably benign
R0045:Cdon	UTSW	9	35486807	missense	probably benign
R0064:Cdon	UTSW	9	35489227	missense	probably benign	0.03
R0396:Cdon	UTSW	9	35470130	missense	probably damaging	1.00
R0403:Cdon	UTSW	9	35473500	missense	probably benign	0.00
R0490:Cdon	UTSW	9	35452682	missense	probably damaging	1.00
R0547:Cdon	UTSW	9	35457498	missense	possibly damaging	0.88
R0609:Cdon	UTSW	9	35478611	missense	probably damaging	1.00
R0645:Cdon	UTSW	9	35477083	splice site	probably null
R0781:Cdon	UTSW	9	35456437	splice site	probably benign
R1110:Cdon	UTSW	9	35456437	splice site	probably benign
R1391:Cdon	UTSW	9	35504189	missense	possibly damaging	0.51
R1574:Cdon	UTSW	9	35452937	splice site	probably benign
R1851:Cdon	UTSW	9	35483158	missense	probably damaging	1.00
R2031:Cdon	UTSW	9	35504074	missense	probably damaging	0.96
R2230:Cdon	UTSW	9	35491926	critical splice donor site	probably null
R3683:Cdon	UTSW	9	35489032	missense	possibly damaging	0.89
R3684:Cdon	UTSW	9	35489032	missense	possibly damaging	0.89
R3685:Cdon	UTSW	9	35489032	missense	possibly damaging	0.89
R3941:Cdon	UTSW	9	35464171	missense	probably benign	0.09
R4030:Cdon	UTSW	9	35491906	missense	probably damaging	1.00
R4084:Cdon	UTSW	9	35478131	missense	probably damaging	0.98
R4462:Cdon	UTSW	9	35457580	missense	probably damaging	0.97
R4569:Cdon	UTSW	9	35476969	missense	probably damaging	1.00
R4677:Cdon	UTSW	9	35478605	missense	probably damaging	1.00
R4869:Cdon	UTSW	9	35452904	missense	possibly damaging	0.71
R5032:Cdon	UTSW	9	35489034	missense	probably damaging	1.00
R5047:Cdon	UTSW	9	35478639	missense	probably damaging	1.00
R5214:Cdon	UTSW	9	35483208	missense	probably damaging	1.00
R5341:Cdon	UTSW	9	35470135	missense	probably damaging	1.00
R5410:Cdon	UTSW	9	35470035	missense	probably damaging	0.99
R5581:Cdon	UTSW	9	35504081	missense	probably benign	0.01
R5696:Cdon	UTSW	9	35491866	missense	possibly damaging	0.69
R5757:Cdon	UTSW	9	35452772	missense	probably damaging	0.98
R5802:Cdon	UTSW	9	35454420	missense	probably damaging	0.99
R5845:Cdon	UTSW	9	35457466	missense	probably damaging	1.00
R5949:Cdon	UTSW	9	35486951	missense	probably benign	0.32
R6106:Cdon	UTSW	9	35455408	nonsense	probably null
R6245:Cdon	UTSW	9	35476939	missense	probably damaging	1.00
R6845:Cdon	UTSW	9	35486956	nonsense	probably null
R6896:Cdon	UTSW	9	35452106	start codon destroyed	probably null	1.00
R7060:Cdon	UTSW	9	35486909	missense	probably damaging	1.00
R7076:Cdon	UTSW	9	35504150	missense	probably benign	0.00
R7184:Cdon	UTSW	9	35463895	missense	probably benign	0.15
R7382:Cdon	UTSW	9	35478648	missense	probably damaging	1.00
R7763:Cdon	UTSW	9	35454415	nonsense	probably null
R7857:Cdon	UTSW	9	35456612	missense	possibly damaging	0.79
R7894:Cdon	UTSW	9	35476948	missense	probably damaging	1.00
R7984:Cdon	UTSW	9	35503302	missense	probably benign	0.00
R8287:Cdon	UTSW	9	35463929	missense	probably benign
R8428:Cdon	UTSW	9	35491867	missense	probably benign	0.21
R8519:Cdon	UTSW	9	35478654	missense	probably damaging	1.00
Z1177:Cdon	UTSW	9	35491900	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTTGCTATGCATAGGGCCTCG -3'
(R):5'- CGTGTTTCACATCTCCGGAC -3'

Sequencing Primer
(F):5'- TATGCATAGGGCCTCGTCACAC -3'
(R):5'- GGACTTGTTGCCCACCACAC -3'

Posted On

2019-12-20