Mutagenetix > Incidental Mutation

Incidental Mutation 'R7886:Dcc'

609090

Institutional Source

Beutler Lab

Gene Symbol

Dcc

Ensembl Gene

ENSMUSG00000060534

Gene Name

deleted in colorectal carcinoma

Synonyms

Igdcc1, C030036D22Rik

MMRRC Submission

045938-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7886 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71386705-72484140 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 72087939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 100 (Q100*)

Ref Sequence

ENSEMBL: ENSMUSP00000110593 (fasta)

Gene Model

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

AlphaFold

P70211

Predicted Effect

probably null
Transcript: ENSMUST00000073379
AA Change: Q100*

SMART Domains

Protein: ENSMUSP00000073094
Gene: ENSMUSG00000060534
AA Change: Q100*

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 null
Transcript: ENSMUST00000114943
AA Change: Q100*

SMART Domains

Protein: ENSMUSP00000110593
Gene: ENSMUSG00000060534
AA Change: Q100*

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (53/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	G	6: 92,811,437 (GRCm39)	I130S	unknown	Het
Ano5	A	G	7: 51,220,141 (GRCm39)	H427R	probably benign	Het
Atad2	A	T	15: 57,989,532 (GRCm39)	V182E	probably damaging	Het
B4galnt1	T	C	10: 127,002,923 (GRCm39)	Y147H	probably damaging	Het
C1s2	T	C	6: 124,605,289 (GRCm39)	S349G	possibly damaging	Het
Ccdc51	G	T	9: 108,920,655 (GRCm39)	A181S	probably damaging	Het
Dchs2	A	T	3: 83,212,392 (GRCm39)	I2064F	probably damaging	Het
Depdc1a	G	A	3: 159,221,706 (GRCm39)	V217I	probably benign	Het
Dnajc7	A	T	11: 100,492,629 (GRCm39)	F31I	probably benign	Het
Eftud2	C	T	11: 102,730,934 (GRCm39)	R825H	probably damaging	Het
Fam184a	T	C	10: 53,551,256 (GRCm39)	E237G	probably damaging	Het
Fdx2	A	T	9: 20,984,623 (GRCm39)		probably null	Het
Frem1	T	C	4: 82,934,643 (GRCm39)	D106G	possibly damaging	Het
Gabrg3	G	A	7: 56,374,229 (GRCm39)	R446W	probably damaging	Het
Get1	T	A	16: 95,946,768 (GRCm39)	L31Q	possibly damaging	Het
Gm42669	A	G	5: 107,656,572 (GRCm39)	E362G		Het
Hmcn1	A	T	1: 150,533,221 (GRCm39)	I3022N	possibly damaging	Het
Ifna2	C	A	4: 88,601,506 (GRCm39)	V171F	probably damaging	Het
Igsf10	T	C	3: 59,235,748 (GRCm39)	N1478D	probably benign	Het
Kcnc1	C	A	7: 46,077,045 (GRCm39)	D282E	probably damaging	Het
Klhdc2	G	A	12: 69,351,406 (GRCm39)		probably null	Het
Macrod2	G	A	2: 141,566,565 (GRCm39)	G188S	probably damaging	Het
Mapkbp1	T	C	2: 119,843,128 (GRCm39)	F186L	possibly damaging	Het
Mettl21a	T	C	1: 64,654,343 (GRCm39)	E58G	probably damaging	Het
Muc16	A	T	9: 18,497,278 (GRCm39)	C6625S	probably benign	Het
Naip5	A	T	13: 100,382,689 (GRCm39)	S7T	probably benign	Het
Nfs1	T	A	2: 155,983,981 (GRCm39)	D132V	unknown	Het
Nlgn1	T	C	3: 25,490,071 (GRCm39)	D552G	probably damaging	Het
Numa1	C	T	7: 101,663,072 (GRCm39)	T2066I	probably benign	Het
Or10k2	T	C	8: 84,268,576 (GRCm39)	S268P	possibly damaging	Het
Or2t48	C	A	11: 58,419,880 (GRCm39)	V311L	probably benign	Het
Or4k2	A	T	14: 50,424,021 (GRCm39)	Y219N	probably damaging	Het
Or7a39	A	G	10: 78,715,657 (GRCm39)	Y217C	possibly damaging	Het
Or7g29	A	T	9: 19,287,202 (GRCm39)		probably null	Het
Pde11a	C	T	2: 76,121,547 (GRCm39)	V345I	probably benign	Het
Pglyrp2	A	G	17: 32,637,735 (GRCm39)	S98P	possibly damaging	Het
Pik3c3	C	T	18: 30,452,641 (GRCm39)	Q643*	probably null	Het
Pold2	T	C	11: 5,822,714 (GRCm39)	Y402C	probably damaging	Het
Pom121	T	C	5: 135,410,848 (GRCm39)	T770A	unknown	Het
Pou4f1	A	T	14: 104,704,228 (GRCm39)	V68E	probably damaging	Het
Ppfia1	G	T	7: 144,073,020 (GRCm39)	Q265K	probably benign	Het
Pygl	A	G	12: 70,253,130 (GRCm39)		probably null	Het
Rdh19	A	G	10: 127,686,169 (GRCm39)	T94A	probably benign	Het
Scgb1b12	A	G	7: 32,033,922 (GRCm39)	T61A	probably damaging	Het
Sirpb1c	C	T	3: 15,886,366 (GRCm39)	A337T	probably benign	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Tbc1d23	T	C	16: 57,009,746 (GRCm39)	E381G	possibly damaging	Het
Tnik	A	G	3: 28,720,288 (GRCm39)	I1304V	probably damaging	Het
Tpmt	C	A	13: 47,193,638 (GRCm39)	G54C	probably damaging	Het
Usp25	A	T	16: 76,910,659 (GRCm39)	Q905L	probably damaging	Het
Vmn1r91	T	A	7: 19,835,490 (GRCm39)	N136K	probably benign	Het
Wdr70	C	T	15: 8,108,733 (GRCm39)	E138K	probably benign	Het
Zbed3	A	G	13: 95,472,633 (GRCm39)	D19G	possibly damaging	Het
Zfp369	A	G	13: 65,439,868 (GRCm39)	K184R	possibly 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
R0762:Dcc	UTSW	18	71,475,776 (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
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'- AGCAGCTTATGGATGGTTACTG -3'
(R):5'- TGAACCTTCGGATGCTGTC -3'

Sequencing Primer
(F):5'- ATCTACGTACCTGCTACC -3'
(R):5'- TCGGATGCTGTCACCATG -3'

Posted On

2019-12-20