Mutagenetix > Incidental Mutation

Incidental Mutation 'R8287:Cdon'

638492

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

067709-MU

Accession Numbers

Essential gene?

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

Stock #

R8287 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35332836-35418948 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35375225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 417 (D417G)

Ref Sequence

ENSEMBL: ENSMUSP00000045547 (fasta)

Gene Model

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

AlphaFold

Q32MD9

Predicted Effect

probably benign
Transcript: ENSMUST00000042842
AA Change: D417G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045547
Gene: ENSMUSG00000038119
AA Change: D417G

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: D417G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113977
Gene: ENSMUSG00000038119
AA Change: D417G

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

SMART Domains

Protein: ENSMUSP00000115216
Gene: ENSMUSG00000038119
AA Change: D81G

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: ENSMUST00000154652
AA Change: D417G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117499
Gene: ENSMUSG00000038119
AA Change: D417G

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

100% (27/27)

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,220,852 (GRCm39)		probably null	Het
Apcs	T	G	1: 172,721,814 (GRCm39)	L177F	possibly damaging	Het
Arsa	G	T	15: 89,357,593 (GRCm39)	H457N	probably benign	Het
Atg10	A	T	13: 91,170,799 (GRCm39)		probably benign	Het
Blnk	T	C	19: 40,917,735 (GRCm39)	Y419C	probably damaging	Het
Cntnap4	T	C	8: 113,585,775 (GRCm39)	S1133P	probably damaging	Het
Cops2	T	A	2: 125,701,037 (GRCm39)		probably benign	Het
Cyp2c40	T	A	19: 39,755,899 (GRCm39)	M472L	probably damaging	Het
Dlg5	T	A	14: 24,214,453 (GRCm39)	Q379L	probably benign	Het
Dnah12	A	G	14: 26,534,560 (GRCm39)	I2019V	probably benign	Het
Dock7	T	C	4: 98,866,157 (GRCm39)	Y1241C	unknown	Het
Dock8	T	C	19: 25,107,825 (GRCm39)	Y852H	probably damaging	Het
Fcrlb	T	A	1: 170,739,653 (GRCm39)	Y83F	probably damaging	Het
Foxj2	G	A	6: 122,805,226 (GRCm39)	A33T	possibly damaging	Het
Gcnt2	T	C	13: 41,014,108 (GRCm39)	F93S	probably damaging	Het
Gm14180	A	G	11: 99,625,068 (GRCm39)	S17P	unknown	Het
Gucy1b2	T	C	14: 62,649,265 (GRCm39)	Q437R	probably damaging	Het
Hyou1	A	G	9: 44,299,430 (GRCm39)	D707G	probably benign	Het
Ncam2	A	G	16: 81,323,883 (GRCm39)	Q509R	probably benign	Het
Npsr1	T	C	9: 24,201,258 (GRCm39)	V214A	probably damaging	Het
Or8g51	T	C	9: 38,609,633 (GRCm39)	T14A	probably benign	Het
Slc50a1	G	A	3: 89,177,710 (GRCm39)		probably null	Het
Speg	T	A	1: 75,398,880 (GRCm39)	M2109K	probably benign	Het
Stxbp5	T	C	10: 9,660,129 (GRCm39)	H722R	probably benign	Het
Vmn2r19	A	G	6: 123,308,588 (GRCm39)	N555S	probably damaging	Het
Xrcc1	G	A	7: 24,271,703 (GRCm39)	R562H	probably damaging	Het
Zscan18	T	G	7: 12,509,298 (GRCm39)	K67N	unknown	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
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'- TCTGAAACATTCTGCTTCCAGTTG -3'
(R):5'- TGATGAGGTAGACAGGCTCCAG -3'

Sequencing Primer
(F):5'- TTTTTCAGGGTAAAAGTTGAGGACAG -3'
(R):5'- TAGACAGGCTCCAGGTCCAG -3'

Posted On

2020-07-28