Mutagenetix > Incidental Mutation

Incidental Mutation 'R0762:Dcc'

72482

Institutional Source

Beutler Lab

Gene Symbol

Dcc

Ensembl Gene

ENSMUSG00000060534

Gene Name

deleted in colorectal carcinoma

Synonyms

Igdcc1, C030036D22Rik

MMRRC Submission

038942-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0762 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71386705-72484140 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 71475776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110593 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073379] [ENSMUST00000114943]

AlphaFold

P70211

Predicted Effect

probably benign
Transcript: ENSMUST00000073379

SMART Domains

Protein: ENSMUSP00000073094
Gene: ENSMUSG00000060534

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
IG	46	137	9.12e-7	SMART
IGc2	152	219	1.75e-17	SMART
IGc2	252	317	4.12e-14	SMART
IGc2	343	407	8e-12	SMART
IG_like	424	520	1.06e2	SMART
FN3	429	511	6.69e-12	SMART
FN3	528	607	6.53e-15	SMART
FN3	622	705	2.09e-13	SMART
FN3	726	805	8.43e-9	SMART
FN3	824	909	2.48e-6	SMART
FN3	925	1011	1.35e-7	SMART
transmembrane domain	1079	1101	N/A	INTRINSIC
Pfam:Neogenin_C	1126	1425	5.5e-129	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114943

SMART Domains

Protein: ENSMUSP00000110593
Gene: ENSMUSG00000060534

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
IG	46	137	9.12e-7	SMART
IGc2	152	219	1.75e-17	SMART
IGc2	252	317	4.12e-14	SMART
IGc2	343	407	8e-12	SMART
IG_like	424	520	1.06e2	SMART
FN3	429	511	6.69e-12	SMART
FN3	528	607	6.53e-15	SMART
FN3	622	705	2.09e-13	SMART
FN3	726	805	8.43e-9	SMART
FN3	844	929	2.48e-6	SMART
FN3	945	1031	1.35e-7	SMART
transmembrane domain	1099	1121	N/A	INTRINSIC
Pfam:Neogenin_C	1148	1445	3.4e-113	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.2%
20x: 93.9%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous animals show defects in axonal projections and hypothalamic development affecting both visual and neruoendocrine systems. Incidence of tumors increases in mutations preventing netrin-1 binding. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	A	2: 19,482,667 (GRCm39)	N475I	probably damaging	Het
Adar	T	C	3: 89,647,290 (GRCm39)		probably benign	Het
Aldh3b3	A	T	19: 4,015,747 (GRCm39)		probably null	Het
Amtn	C	T	5: 88,532,859 (GRCm39)	T158I	possibly damaging	Het
Ap1g2	A	G	14: 55,337,868 (GRCm39)		probably benign	Het
Arhgef3	A	G	14: 27,119,584 (GRCm39)	Y318C	probably damaging	Het
Atg2b	A	C	12: 105,641,229 (GRCm39)	V69G	possibly damaging	Het
Bbx	G	A	16: 50,045,529 (GRCm39)	T236I	possibly damaging	Het
Bcl11b	C	T	12: 107,931,922 (GRCm39)		probably benign	Het
Catsperg1	T	C	7: 28,889,377 (GRCm39)	I794V	probably benign	Het
Ccdc88a	C	T	11: 29,413,112 (GRCm39)		probably benign	Het
Cdhr3	C	A	12: 33,110,300 (GRCm39)	R328L	probably benign	Het
Ces2e	T	A	8: 105,656,496 (GRCm39)	M242K	probably damaging	Het
Col12a1	A	G	9: 79,588,656 (GRCm39)		probably benign	Het
Col3a1	T	C	1: 45,360,686 (GRCm39)	S39P	unknown	Het
Cplane1	A	G	15: 8,247,900 (GRCm39)		probably benign	Het
Cyp2a5	T	A	7: 26,538,298 (GRCm39)	Y220*	probably null	Het
Dnajb8	A	G	6: 88,200,036 (GRCm39)	T191A	probably damaging	Het
Ephx2	A	T	14: 66,339,628 (GRCm39)	F199I	probably damaging	Het
Fancd2	A	G	6: 113,551,619 (GRCm39)	K1062E	probably benign	Het
Fbxo33	A	G	12: 59,251,285 (GRCm39)	V410A	probably benign	Het
Gars1	T	G	6: 55,054,565 (GRCm39)		probably null	Het
Git1	A	C	11: 77,390,660 (GRCm39)	D132A	possibly damaging	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Gucy1a1	T	C	3: 82,002,203 (GRCm39)	T44A	unknown	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Ifnlr1	A	G	4: 135,428,640 (GRCm39)	K156E	possibly damaging	Het
Klf13	T	C	7: 63,541,371 (GRCm39)	N15S	probably benign	Het
Krt77	T	C	15: 101,769,561 (GRCm39)		probably null	Het
Ldc1	A	G	4: 130,115,417 (GRCm39)	S44P	probably damaging	Het
Map4	C	A	9: 109,867,546 (GRCm39)		probably benign	Het
Mthfr	T	C	4: 148,139,900 (GRCm39)	I623T	possibly damaging	Het
Myo7b	T	A	18: 32,116,997 (GRCm39)	T908S	probably benign	Het
Nbeal2	T	G	9: 110,472,876 (GRCm39)		probably benign	Het
Nwd2	T	G	5: 63,957,757 (GRCm39)	F362L	probably benign	Het
Pcm1	A	T	8: 41,714,057 (GRCm39)	R208W	probably damaging	Het
Pkd2l1	T	C	19: 44,138,909 (GRCm39)	D647G	probably benign	Het
Plbd1	C	T	6: 136,618,145 (GRCm39)	V24M	probably damaging	Het
Polr2a	G	A	11: 69,625,943 (GRCm39)	P1698S	unknown	Het
Prss12	T	C	3: 123,279,153 (GRCm39)	I410T	probably damaging	Het
Ptpre	A	G	7: 135,280,964 (GRCm39)	N565S	probably damaging	Het
Rab44	T	C	17: 29,364,244 (GRCm39)	L606P	unknown	Het
Rbm10	C	T	X: 20,503,903 (GRCm39)		probably benign	Het
Rhd	C	T	4: 134,603,612 (GRCm39)		probably benign	Het
Rspo3	T	A	10: 29,375,917 (GRCm39)		probably benign	Het
Sdccag8	T	A	1: 176,773,710 (GRCm39)	N555K	probably benign	Het
Skint6	T	A	4: 112,722,848 (GRCm39)		probably benign	Het
Slc22a20	G	A	19: 6,036,036 (GRCm39)	P45S	probably damaging	Het
Slc5a2	A	G	7: 127,866,654 (GRCm39)	Y124C	probably damaging	Het
Spats2l	T	C	1: 57,925,043 (GRCm39)	L127P	possibly damaging	Het
Taar8a	T	A	10: 23,952,975 (GRCm39)	I193N	probably benign	Het
Ten1	C	T	11: 116,107,510 (GRCm39)		probably benign	Het
Tfb2m	T	C	1: 179,373,398 (GRCm39)	E100G	probably damaging	Het
Tom1	C	T	8: 75,778,934 (GRCm39)		probably benign	Het
Vps52	G	T	17: 34,178,985 (GRCm39)	R171L	probably damaging	Het
Zcwpw2	A	T	9: 117,843,182 (GRCm39)		noncoding transcript	Het
Zfhx4	G	A	3: 5,468,880 (GRCm39)	E3013K	probably damaging	Het
Zfp267	G	A	3: 36,220,016 (GRCm39)	D680N	possibly damaging	Het
Zfp777	C	T	6: 48,006,294 (GRCm39)	V411M	probably damaging	Het

Other mutations in Dcc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Dcc	APN	18	71,517,296 (GRCm39)	critical splice acceptor site	probably null
IGL00781:Dcc	APN	18	71,942,266 (GRCm39)	missense	probably benign	0.25
IGL00818:Dcc	APN	18	72,088,083 (GRCm39)	missense	probably benign
IGL00895:Dcc	APN	18	71,943,871 (GRCm39)	missense	probably damaging	0.98
IGL00969:Dcc	APN	18	71,589,954 (GRCm39)	missense	probably benign	0.25
IGL01019:Dcc	APN	18	71,942,161 (GRCm39)	missense	probably benign	0.00
IGL01132:Dcc	APN	18	71,815,245 (GRCm39)	nonsense	probably null
IGL01349:Dcc	APN	18	71,503,808 (GRCm39)	missense	probably damaging	1.00
IGL01355:Dcc	APN	18	71,942,185 (GRCm39)	missense	probably benign	0.00
IGL01374:Dcc	APN	18	71,507,624 (GRCm39)	missense	probably damaging	1.00
IGL01947:Dcc	APN	18	71,959,280 (GRCm39)	missense	probably benign
IGL02470:Dcc	APN	18	72,088,153 (GRCm39)	splice site	probably benign
IGL02508:Dcc	APN	18	71,503,773 (GRCm39)	missense	probably benign	0.00
IGL02999:Dcc	APN	18	71,511,749 (GRCm39)	missense	possibly damaging	0.68
IGL03034:Dcc	APN	18	71,708,214 (GRCm39)	nonsense	probably null
IGL03118:Dcc	APN	18	71,553,344 (GRCm39)	missense	probably benign	0.00
IGL03133:Dcc	APN	18	71,396,026 (GRCm39)	splice site	probably benign
IGL03357:Dcc	APN	18	71,460,625 (GRCm39)	missense	probably damaging	1.00
Hyperrev	UTSW	18	71,392,086 (GRCm39)	missense	probably damaging	1.00
LCD18:Dcc	UTSW	18	72,430,518 (GRCm39)	intron	probably benign
P0031:Dcc	UTSW	18	71,517,299 (GRCm39)	splice site	probably benign
PIT4142001:Dcc	UTSW	18	71,517,297 (GRCm39)	splice site	probably null
R0076:Dcc	UTSW	18	71,454,117 (GRCm39)	nonsense	probably null
R0355:Dcc	UTSW	18	71,708,279 (GRCm39)	missense	possibly damaging	0.75
R0370:Dcc	UTSW	18	71,721,056 (GRCm39)	missense	possibly damaging	0.92
R0383:Dcc	UTSW	18	71,553,334 (GRCm39)	missense	probably damaging	0.99
R0541:Dcc	UTSW	18	71,392,086 (GRCm39)	missense	probably damaging	1.00
R0690:Dcc	UTSW	18	71,942,275 (GRCm39)	splice site	probably benign
R0765:Dcc	UTSW	18	71,496,061 (GRCm39)	missense	probably damaging	1.00
R0846:Dcc	UTSW	18	71,959,283 (GRCm39)	missense	probably benign	0.06
R1230:Dcc	UTSW	18	71,815,384 (GRCm39)	missense	probably damaging	1.00
R1662:Dcc	UTSW	18	71,553,409 (GRCm39)	missense	probably benign	0.00
R1663:Dcc	UTSW	18	71,959,123 (GRCm39)	missense	probably damaging	1.00
R1697:Dcc	UTSW	18	71,503,808 (GRCm39)	missense	probably damaging	1.00
R1770:Dcc	UTSW	18	71,579,470 (GRCm39)	missense	probably benign	0.01
R1781:Dcc	UTSW	18	71,511,788 (GRCm39)	missense	probably benign	0.41
R1797:Dcc	UTSW	18	71,500,232 (GRCm39)	missense	probably damaging	1.00
R2101:Dcc	UTSW	18	71,943,941 (GRCm39)	missense	possibly damaging	0.62
R2190:Dcc	UTSW	18	71,680,491 (GRCm39)	missense	possibly damaging	0.89
R2248:Dcc	UTSW	18	71,959,239 (GRCm39)	missense	probably benign	0.00
R2262:Dcc	UTSW	18	71,507,622 (GRCm39)	missense	probably damaging	1.00
R2442:Dcc	UTSW	18	71,589,954 (GRCm39)	missense	probably damaging	0.98
R3844:Dcc	UTSW	18	71,959,257 (GRCm39)	missense	probably benign	0.01
R4037:Dcc	UTSW	18	72,483,468 (GRCm39)	missense	possibly damaging	0.57
R4085:Dcc	UTSW	18	71,959,240 (GRCm39)	missense	probably benign	0.00
R4344:Dcc	UTSW	18	71,507,561 (GRCm39)	missense	probably damaging	0.99
R4499:Dcc	UTSW	18	71,680,388 (GRCm39)	missense	probably benign	0.07
R4611:Dcc	UTSW	18	71,682,069 (GRCm39)	splice site	probably null
R4811:Dcc	UTSW	18	71,432,554 (GRCm39)	missense	probably benign	0.31
R4937:Dcc	UTSW	18	71,675,320 (GRCm39)	nonsense	probably null
R5125:Dcc	UTSW	18	71,589,948 (GRCm39)	missense	probably benign	0.02
R5292:Dcc	UTSW	18	71,439,159 (GRCm39)	missense	probably damaging	1.00
R5297:Dcc	UTSW	18	71,511,809 (GRCm39)	missense	probably benign	0.00
R5317:Dcc	UTSW	18	71,517,226 (GRCm39)	missense	possibly damaging	0.78
R5691:Dcc	UTSW	18	71,708,154 (GRCm39)	missense	probably damaging	1.00
R5693:Dcc	UTSW	18	71,708,153 (GRCm39)	missense	probably damaging	1.00
R6091:Dcc	UTSW	18	71,942,185 (GRCm39)	missense	probably benign	0.00
R6291:Dcc	UTSW	18	71,815,238 (GRCm39)	missense	probably benign	0.06
R6307:Dcc	UTSW	18	71,943,826 (GRCm39)	missense	probably benign	0.15
R6343:Dcc	UTSW	18	71,469,106 (GRCm39)	missense	probably damaging	1.00
R6508:Dcc	UTSW	18	71,439,144 (GRCm39)	missense	probably damaging	1.00
R6701:Dcc	UTSW	18	71,942,191 (GRCm39)	missense	probably benign	0.02
R6810:Dcc	UTSW	18	71,503,764 (GRCm39)	missense	probably damaging	0.99
R7078:Dcc	UTSW	18	71,680,469 (GRCm39)	missense	probably benign	0.05
R7172:Dcc	UTSW	18	71,511,755 (GRCm39)	missense	probably benign	0.04
R7345:Dcc	UTSW	18	71,511,895 (GRCm39)	missense	probably benign	0.00
R7365:Dcc	UTSW	18	71,959,194 (GRCm39)	missense	probably damaging	0.98
R7395:Dcc	UTSW	18	71,507,640 (GRCm39)	nonsense	probably null
R7455:Dcc	UTSW	18	71,553,394 (GRCm39)	missense	probably benign	0.00
R7461:Dcc	UTSW	18	71,439,105 (GRCm39)	missense	probably damaging	1.00
R7485:Dcc	UTSW	18	71,553,317 (GRCm39)	missense	probably benign	0.00
R7732:Dcc	UTSW	18	71,579,506 (GRCm39)	missense	probably benign	0.24
R7886:Dcc	UTSW	18	72,087,939 (GRCm39)	nonsense	probably null
R8097:Dcc	UTSW	18	71,812,573 (GRCm39)	missense	probably damaging	1.00
R8137:Dcc	UTSW	18	71,511,783 (GRCm39)	missense	probably benign	0.00
R8188:Dcc	UTSW	18	71,943,928 (GRCm39)	missense	probably benign
R8236:Dcc	UTSW	18	72,088,089 (GRCm39)	missense	probably benign
R8802:Dcc	UTSW	18	71,959,125 (GRCm39)	missense	probably damaging	1.00
R8869:Dcc	UTSW	18	71,511,755 (GRCm39)	missense	probably benign	0.04
R9221:Dcc	UTSW	18	71,553,433 (GRCm39)	missense	possibly damaging	0.66
R9282:Dcc	UTSW	18	71,815,249 (GRCm39)	missense	possibly damaging	0.85
R9366:Dcc	UTSW	18	71,708,281 (GRCm39)	missense	probably damaging	1.00
R9566:Dcc	UTSW	18	71,943,866 (GRCm39)	missense	possibly damaging	0.92
R9607:Dcc	UTSW	18	71,721,072 (GRCm39)	missense	probably damaging	1.00
W0251:Dcc	UTSW	18	71,959,154 (GRCm39)	missense	probably damaging	1.00
X0020:Dcc	UTSW	18	71,454,171 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CCATGCATCTGTCATCTCTAATTGTCATCA -3'
(R):5'- GGAGGCACAAGTCCCAATAATACTATAACGAA -3'

Sequencing Primer
(F):5'- GTCATCATTTTCTGATAGAATGTGTG -3'
(R):5'- gagagagagagagagagagagag -3'

Posted On

2013-09-30