Mutagenetix > Incidental Mutation

Incidental Mutation 'R5047:Cdon'

394415

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

042637-MU

Accession Numbers

Essential gene?

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

Stock #

R5047 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35332836-35418948 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35389935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 863 (R863Q)

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: R863Q

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

SMART Domains

Protein: ENSMUSP00000045547
Gene: ENSMUSG00000038119
AA Change: R863Q

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: R863Q

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

SMART Domains

Protein: ENSMUSP00000113977
Gene: ENSMUSG00000038119
AA Change: R863Q

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

0.2537

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.5%

Validation Efficiency

96% (49/51)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	A	T	14: 44,406,698 (GRCm39)	M117K	possibly damaging	Het
Adamts13	G	A	2: 26,886,922 (GRCm39)	A1020T	probably damaging	Het
Armh4	G	T	14: 50,007,895 (GRCm39)	A526D	probably damaging	Het
Atg3	C	A	16: 44,998,595 (GRCm39)	D132E	probably benign	Het
Blzf1	A	G	1: 164,134,037 (GRCm39)	M4T	possibly damaging	Het
Cyp2d40	C	T	15: 82,644,460 (GRCm39)	R255H	unknown	Het
Evi5	T	C	5: 107,969,740 (GRCm39)	K57R	probably damaging	Het
Fam186b	T	C	15: 99,178,567 (GRCm39)	E253G	probably damaging	Het
Fcgr1	A	T	3: 96,193,200 (GRCm39)	F266I	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gm10142	G	T	10: 77,551,996 (GRCm39)	C119F	probably damaging	Het
Gpr63	A	G	4: 25,008,202 (GRCm39)	S309G	probably benign	Het
Herc3	C	T	6: 58,832,745 (GRCm39)	Q137*	probably null	Het
Jmy	T	A	13: 93,578,080 (GRCm39)	H696L	possibly damaging	Het
Kif13a	T	C	13: 46,941,561 (GRCm39)	H972R	probably benign	Het
Lama1	C	T	17: 68,050,276 (GRCm39)	Q296*	probably null	Het
Lmf1	C	T	17: 25,850,812 (GRCm39)		probably benign	Het
Lpp	T	C	16: 24,790,596 (GRCm39)	C352R	probably damaging	Het
Ltbp1	T	C	17: 75,599,881 (GRCm39)		probably benign	Het
Maml3	G	T	3: 51,598,262 (GRCm39)	D807E	possibly damaging	Het
Mdc1	T	A	17: 36,158,736 (GRCm39)	V372D	probably benign	Het
Mst1	C	A	9: 107,961,508 (GRCm39)	H579Q	probably benign	Het
Or11g24	T	C	14: 50,662,696 (GRCm39)	F240S	probably damaging	Het
Or1r1	T	C	11: 73,875,204 (GRCm39)	T77A	probably damaging	Het
Or4a39	A	G	2: 89,237,057 (GRCm39)	V122A	probably damaging	Het
Or8d1	G	A	9: 38,766,585 (GRCm39)	V76I	probably benign	Het
Pcdhb22	G	T	18: 37,652,179 (GRCm39)	G216C	probably damaging	Het
Phlpp2	A	T	8: 110,640,251 (GRCm39)	H472L	probably benign	Het
Plscr3	A	G	11: 69,740,917 (GRCm39)		probably null	Het
Rab7	A	T	6: 87,982,205 (GRCm39)		probably null	Het
Rad50	A	G	11: 53,565,523 (GRCm39)		probably null	Het
Scgb1b20	A	G	7: 33,072,737 (GRCm39)		probably null	Het
Scn9a	A	C	2: 66,392,824 (GRCm39)	L256R	probably damaging	Het
Spag1	G	T	15: 36,195,588 (GRCm39)	Q260H	probably damaging	Het
Tatdn3	T	A	1: 190,778,475 (GRCm39)	I239F	probably damaging	Het
Tcof1	A	G	18: 60,964,986 (GRCm39)	S578P	possibly damaging	Het
Top3b	A	G	16: 16,709,282 (GRCm39)	T657A	probably benign	Het
Tstd3	A	G	4: 21,759,621 (GRCm39)		probably null	Het
Ttc4	A	T	4: 106,525,435 (GRCm39)	L233H	probably damaging	Het
Vmn2r130	T	A	17: 23,282,794 (GRCm39)	M158K	probably benign	Het
Yeats2	A	T	16: 20,027,215 (GRCm39)	Q822L	probably damaging	Het
Zfp976	A	T	7: 42,262,843 (GRCm39)	C331*	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTCTCATCCAAATGGTGC -3'
(R):5'- CAAAATCAGGGCACTGTCGC -3'

Sequencing Primer
(F):5'- CTCTCATCCAAATGGTGCTAATTAAC -3'
(R):5'- GAGACTGGGAAATTTGGATTACATG -3'

Posted On

2016-06-15