Mutagenetix > Incidental Mutation

Incidental Mutation 'R8188:Dcc'

635004

Institutional Source

Beutler Lab

Gene Symbol

Dcc

Ensembl Gene

ENSMUSG00000060534

Gene Name

deleted in colorectal carcinoma

Synonyms

Igdcc1, C030036D22Rik

MMRRC Submission

067611-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8188 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71386705-72484140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71943928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 241 (Y241F)

Ref Sequence

ENSEMBL: ENSMUSP00000110593 (fasta)

Gene Model

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

AlphaFold

P70211

Predicted Effect

probably benign
Transcript: ENSMUST00000073379
AA Change: Y241F

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

SMART Domains

Protein: ENSMUSP00000073094
Gene: ENSMUSG00000060534
AA Change: Y241F

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
AA Change: Y241F

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

SMART Domains

Protein: ENSMUSP00000110593
Gene: ENSMUSG00000060534
AA Change: Y241F

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: 99.6%
20x: 98.6%

Validation Efficiency

100% (56/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	C	G	4: 40,180,284 (GRCm39)	A395G	probably benign	Het
Adgrf5	G	A	17: 43,741,503 (GRCm39)	C380Y	probably damaging	Het
Astn2	T	C	4: 65,977,418 (GRCm39)	T422A	unknown	Het
Baz1b	G	T	5: 135,233,916 (GRCm39)	V148F	probably benign	Het
Bicd1	A	C	6: 149,451,854 (GRCm39)	S823R	probably damaging	Het
Bltp3b	C	T	10: 89,647,928 (GRCm39)	T1330M	possibly damaging	Het
Blvra	A	C	2: 126,937,047 (GRCm39)	S167R	probably damaging	Het
Camsap2	G	T	1: 136,225,132 (GRCm39)		probably null	Het
Card14	T	C	11: 119,228,623 (GRCm39)	S650P	probably damaging	Het
Ccdc121rt2	A	G	5: 112,597,993 (GRCm39)	D180G	possibly damaging	Het
Cdh2	A	G	18: 16,781,593 (GRCm39)	I166T	probably damaging	Het
Cdnf	T	C	2: 3,514,228 (GRCm39)	V22A	probably benign	Het
Cfhr4	T	A	1: 139,625,868 (GRCm39)	I869F	probably damaging	Het
Chd2	T	A	7: 73,079,504 (GRCm39)	K1799*	probably null	Het
Col20a1	G	A	2: 180,658,126 (GRCm39)		probably null	Het
Cyp4a31	T	C	4: 115,426,943 (GRCm39)	I182T	probably benign	Het
Dap3	A	T	3: 88,843,543 (GRCm39)	F25L	probably benign	Het
Ddx46	A	G	13: 55,814,029 (GRCm39)	I662V	possibly damaging	Het
Dzip3	T	C	16: 48,772,499 (GRCm39)	D390G	probably damaging	Het
Eif1	A	G	11: 100,211,624 (GRCm39)	D55G	probably benign	Het
Exosc5	T	A	7: 25,358,790 (GRCm39)	S44T	probably damaging	Het
Fat2	A	G	11: 55,163,997 (GRCm39)	V3086A	probably damaging	Het
Fcamr	T	A	1: 130,730,665 (GRCm39)		probably null	Het
Gcg	T	C	2: 62,309,004 (GRCm39)	D50G	probably damaging	Het
Gm7298	A	G	6: 121,763,537 (GRCm39)		probably null	Het
Hfe	A	G	13: 23,892,175 (GRCm39)	V63A	probably damaging	Het
Hoxd11	T	A	2: 74,514,298 (GRCm39)	I276N	probably damaging	Het
Htt	T	C	5: 34,919,287 (GRCm39)	S13P	probably benign	Het
Il12a	T	A	3: 68,598,872 (GRCm39)	C18S	unknown	Het
Itk	G	T	11: 46,222,776 (GRCm39)	Y564*	probably null	Het
Lrrc46	A	T	11: 96,931,705 (GRCm39)	L39Q	probably damaging	Het
Myom3	T	A	4: 135,507,231 (GRCm39)	L537Q	probably damaging	Het
Nrap	A	C	19: 56,325,010 (GRCm39)	Y1234*	probably null	Het
Or51q1	T	C	7: 103,628,743 (GRCm39)	S121P	probably damaging	Het
Or8b9	A	T	9: 37,766,407 (GRCm39)	M98L	probably benign	Het
Parn	T	C	16: 13,359,020 (GRCm39)	D574G	probably benign	Het
Pbrm1	A	G	14: 30,789,773 (GRCm39)	I807V	probably damaging	Het
Pclo	T	A	5: 14,725,193 (GRCm39)	S1350R	unknown	Het
Pira13	T	C	7: 3,826,126 (GRCm39)	H289R	unknown	Het
Plaa	T	C	4: 94,474,586 (GRCm39)	Q272R	probably damaging	Het
Rfx6	T	A	10: 51,594,292 (GRCm39)	I174N	probably benign	Het
Ripk2	T	A	4: 16,139,218 (GRCm39)	K226N	probably damaging	Het
Scgb1b2	T	C	7: 30,990,946 (GRCm39)	D54G	possibly damaging	Het
Slc45a4	T	C	15: 73,456,383 (GRCm39)	Y599C	probably benign	Het
Slc7a13	T	C	4: 19,819,082 (GRCm39)	V94A	probably benign	Het
Slc7a8	A	G	14: 54,972,579 (GRCm39)	F281L	probably benign	Het
Slco4c1	T	A	1: 96,772,261 (GRCm39)	T243S	probably damaging	Het
Smim30	C	T	6: 13,870,541 (GRCm39)	G57E	probably damaging	Het
Stat5b	A	G	11: 100,692,262 (GRCm39)	I174T	probably damaging	Het
Styk1	C	A	6: 131,281,848 (GRCm39)	V257L	probably benign	Het
Tmem268	T	C	4: 63,498,209 (GRCm39)	F210L	probably damaging	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Vps50	T	A	6: 3,562,297 (GRCm39)	L464*	probably null	Het
Zfhx2	A	T	14: 55,301,898 (GRCm39)	S2029T	probably benign	Het
Zfp235	T	A	7: 23,841,296 (GRCm39)	F572I	probably damaging	Het
Zfp280d	T	C	9: 72,267,615 (GRCm39)	I766T	probably benign	Het
Zfr	T	G	15: 12,171,904 (GRCm39)	C933W	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
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
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
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'- TTGGACCTATCAGAAAGTAAGAAGTA -3'
(R):5'- CCGGTTTCTTTGCATGTATCAACT -3'

Sequencing Primer
(F):5'- TGAAACTTGGCGGAGGAT -3'
(R):5'- GGCTGGCTATTATACATTGTAT -3'

Posted On

2020-07-13