Mutagenetix > Incidental Mutation

Incidental Mutation 'R5949:Cdon'

472329

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

044139-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.241) question?

Stock #

R5949 (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 35398247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 988 (R988H)

Ref Sequence

ENSEMBL: ENSMUSP00000113977 (fasta)

Gene Model

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

AlphaFold

Q32MD9

Predicted Effect

probably benign
Transcript: ENSMUST00000042842
AA Change: R988H

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000045547
Gene: ENSMUSG00000038119
AA Change: R988H

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: R988H

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113977
Gene: ENSMUSG00000038119
AA Change: R988H

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

0.0865

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

92% (58/63)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,655,032 (GRCm39)	Y1452C	probably damaging	Het
Adcy10	A	T	1: 165,367,386 (GRCm39)	H552L	possibly damaging	Het
Alms1-ps1	A	T	6: 85,698,943 (GRCm39)		noncoding transcript	Het
Arhgap21	A	G	2: 20,853,852 (GRCm39)	S1837P	probably damaging	Het
Atad5	G	T	11: 79,986,835 (GRCm39)	E641*	probably null	Het
Atp8b4	T	A	2: 126,247,242 (GRCm39)	T276S	probably benign	Het
Bptf	A	G	11: 107,001,915 (GRCm39)	I399T	probably damaging	Het
Carf	A	C	1: 60,178,472 (GRCm39)	K295T	probably damaging	Het
Cd209d	T	A	8: 3,927,949 (GRCm39)	N52Y	possibly damaging	Het
Cdh2	T	A	18: 16,734,687 (GRCm39)	I779F	probably damaging	Het
Cfhr4	A	T	1: 139,660,887 (GRCm39)	H600Q	probably damaging	Het
Cic	C	T	7: 24,971,730 (GRCm39)	T487M	probably damaging	Het
Dcps	A	G	9: 35,036,557 (GRCm39)		probably benign	Het
Ddx41	A	G	13: 55,679,874 (GRCm39)	C427R	probably damaging	Het
Diras2	T	C	13: 52,661,747 (GRCm39)	K187E	possibly damaging	Het
Emb	A	G	13: 117,403,928 (GRCm39)	I227V	probably benign	Het
Fam193a	T	A	5: 34,597,816 (GRCm39)	S538T	possibly damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Galnt6	A	T	15: 100,594,431 (GRCm39)	N533K	probably damaging	Het
Grip1	A	G	10: 119,886,147 (GRCm39)	D499G	probably benign	Het
Ifih1	T	C	2: 62,440,904 (GRCm39)	N421D	probably benign	Het
Ifng	G	C	10: 118,278,529 (GRCm39)	M63I	probably benign	Het
Ighv1-43	A	G	12: 114,910,002 (GRCm39)	M1T	probably null	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Krt87	A	T	15: 101,385,476 (GRCm39)	C299S	probably damaging	Het
Lrrn1	G	T	6: 107,544,465 (GRCm39)	V88L	probably benign	Het
Mapkapk2	A	G	1: 130,985,742 (GRCm39)	V173A	possibly damaging	Het
Mrap2	T	G	9: 87,064,658 (GRCm39)	V133G	probably benign	Het
Nlrp1a	T	A	11: 70,989,815 (GRCm39)	D984V	probably damaging	Het
Or4c125	A	G	2: 89,170,229 (GRCm39)	V139A	probably damaging	Het
Or5p59	T	C	7: 107,703,404 (GRCm39)	L296P	probably damaging	Het
Pcdh17	T	C	14: 84,684,996 (GRCm39)	Y488H	probably damaging	Het
Pih1d2	C	T	9: 50,536,284 (GRCm39)	P313L	probably damaging	Het
Ralgapb	T	C	2: 158,296,179 (GRCm39)	C839R	probably damaging	Het
Rdh5	C	A	10: 128,754,136 (GRCm39)	R29L	probably benign	Het
Rfx6	A	G	10: 51,554,429 (GRCm39)	D90G	probably benign	Het
Rnf213	A	G	11: 119,333,905 (GRCm39)	Y3038C	probably damaging	Het
Sec14l2	A	T	11: 4,058,972 (GRCm39)	V191D	probably damaging	Het
Slc3a2	T	C	19: 8,690,759 (GRCm39)	Y118C	probably damaging	Het
Sorbs2	T	C	8: 46,222,934 (GRCm39)		probably null	Het
Stab2	A	G	10: 86,805,713 (GRCm39)	L211P	possibly damaging	Het
Tbc1d9b	T	C	11: 50,038,876 (GRCm39)	C289R	probably benign	Het
Tfpi	T	C	2: 84,275,092 (GRCm39)	E172G	probably benign	Het
Tmem106b	T	A	6: 13,083,418 (GRCm39)	M229K	probably damaging	Het
Tsfm	G	A	10: 126,864,244 (GRCm39)	T157M	probably damaging	Het
Tshr	G	A	12: 91,503,992 (GRCm39)	R310H	probably damaging	Het
Ttn	G	A	2: 76,608,244 (GRCm39)	A17893V	possibly damaging	Het
Vps39	A	G	2: 120,159,149 (GRCm39)	Y380H	probably benign	Het
Xylt2	G	A	11: 94,559,309 (GRCm39)	R383C	probably damaging	Het
Zfp719	C	T	7: 43,233,541 (GRCm39)		probably benign	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
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'- TCCTGGAGCTTCCGACTATC -3'
(R):5'- TTGATGCTCCACAGGCTTC -3'

Sequencing Primer
(F):5'- TCCGACTATCCCGTGAAAGAGTTG -3'
(R):5'- GCAGGAATGGTTCTAAAGTCACCTC -3'

Posted On

2017-03-31