Mutagenetix > Incidental Mutation

Incidental Mutation 'R9282:Dcc'

703716

Institutional Source

Beutler Lab

Gene Symbol

Dcc

Ensembl Gene

ENSMUSG00000060534

Gene Name

deleted in colorectal carcinoma

Synonyms

Igdcc1, C030036D22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9282 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71386705-72484140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71815249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 375 (D375G)

Ref Sequence

ENSEMBL: ENSMUSP00000110593 (fasta)

Gene Model

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

AlphaFold

P70211

Predicted Effect

probably damaging
Transcript: ENSMUST00000073379
AA Change: D375G

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

SMART Domains

Protein: ENSMUSP00000073094
Gene: ENSMUSG00000060534
AA Change: D375G

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

possibly damaging
Transcript: ENSMUST00000114943
AA Change: D375G

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110593
Gene: ENSMUSG00000060534
AA Change: D375G

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

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
Abi3bp	G	A	16: 56,440,867 (GRCm39)	V701M	unknown	Het
Adam2	G	A	14: 66,267,238 (GRCm39)	P674S	probably benign	Het
Adam24	T	A	8: 41,133,674 (GRCm39)	Y381N	probably damaging	Het
Adgrv1	A	G	13: 81,251,491 (GRCm39)	S6209P	probably damaging	Het
Aox4	A	T	1: 58,285,028 (GRCm39)	K593N	possibly damaging	Het
Aqp3	A	G	4: 41,093,640 (GRCm39)	V258A	possibly damaging	Het
Atg16l1	T	A	1: 87,707,906 (GRCm39)	F390I	possibly damaging	Het
B4galt6	T	A	18: 20,825,509 (GRCm39)	Y239F	possibly damaging	Het
Cmtr2	T	C	8: 110,948,977 (GRCm39)	M429T	probably benign	Het
Col5a2	C	G	1: 45,478,029 (GRCm39)		probably null	Het
Dnah14	T	C	1: 181,642,077 (GRCm39)	Y31H		Het
Fam131a	G	A	16: 20,520,243 (GRCm39)	R232H	possibly damaging	Het
Fam186a	A	G	15: 99,839,879 (GRCm39)	Y2122H	probably damaging	Het
Focad	A	T	4: 88,115,059 (GRCm39)	I421F	unknown	Het
Fscb	T	G	12: 64,520,097 (GRCm39)	E456D	possibly damaging	Het
Furin	C	A	7: 80,040,846 (GRCm39)	S664I	probably benign	Het
Ganc	A	G	2: 120,290,381 (GRCm39)	E906G	probably benign	Het
Gdf5	C	G	2: 155,783,915 (GRCm39)	D346H	probably damaging	Het
Golga4	T	C	9: 118,385,893 (GRCm39)	L1005P	probably damaging	Het
Ifit1bl1	T	C	19: 34,571,908 (GRCm39)	N183S	probably benign	Het
Itpr1	T	A	6: 108,370,984 (GRCm39)	F1084I	probably damaging	Het
Katnal1	A	T	5: 148,831,021 (GRCm39)	Y184*	probably null	Het
Lrrc37a	A	G	11: 103,391,633 (GRCm39)	I1264T	probably benign	Het
Map3k2	T	A	18: 32,342,805 (GRCm39)	M234K	probably damaging	Het
Mcm3ap	T	A	10: 76,342,352 (GRCm39)	V1615E	probably damaging	Het
Mkrn2	A	G	6: 115,591,534 (GRCm39)		probably null	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nradd	T	A	9: 110,450,751 (GRCm39)	Q142L	possibly damaging	Het
Ophn1	G	A	X: 97,622,145 (GRCm39)	T668M	probably benign	Het
Or56b35	T	C	7: 104,963,781 (GRCm39)	I190T	probably benign	Het
Pdzd7	A	G	19: 45,028,622 (GRCm39)	F174L	probably damaging	Het
Pi4k2b	C	T	5: 52,900,879 (GRCm39)	T99I	probably benign	Het
Pigv	A	T	4: 133,391,973 (GRCm39)	V399D	probably damaging	Het
Pla2g4a	C	A	1: 149,747,207 (GRCm39)	L326F	probably damaging	Het
Psmg1	T	C	16: 95,790,717 (GRCm39)	I73M	probably damaging	Het
Rcl1	T	C	19: 29,093,170 (GRCm39)	S62P	probably damaging	Het
Slc23a4	T	A	6: 34,955,861 (GRCm39)	I58F	probably damaging	Het
Slc36a2	G	T	11: 55,060,837 (GRCm39)	T191K	probably benign	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tbc1d30	T	C	10: 121,142,128 (GRCm39)		probably null	Het
Tbc1d4	A	G	14: 101,845,616 (GRCm39)	V94A	possibly damaging	Het
Tdrd5	T	C	1: 156,105,030 (GRCm39)	Y532C	probably benign	Het
Tll2	T	A	19: 41,074,772 (GRCm39)	I931L	probably benign	Het
Tlr3	T	C	8: 45,851,643 (GRCm39)	N418S	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tshr	T	A	12: 91,474,518 (GRCm39)	M164K	possibly damaging	Het
Ttc21b	A	G	2: 66,056,349 (GRCm39)	V679A	possibly damaging	Het
Ttn	A	G	2: 76,730,861 (GRCm39)	Y4951H	unknown	Het
Usf1	T	A	1: 171,243,373 (GRCm39)	V50D	possibly damaging	Het
Utp6	A	T	11: 79,826,851 (GRCm39)	M575K	probably benign	Het
Vmn1r197	A	T	13: 22,512,608 (GRCm39)	R176S	possibly damaging	Het
Vmn2r104	A	T	17: 20,261,098 (GRCm39)	F442I	probably damaging	Het
Vmn2r94	A	G	17: 18,497,751 (GRCm39)	F7S	possibly damaging	Het
Vps41	G	T	13: 19,013,401 (GRCm39)	E340*	probably null	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
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
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'- GCATTCTGCAACCGAGTTTG -3'
(R):5'- ATGCAACCATGTGCCCACTC -3'

Sequencing Primer
(F):5'- GCAACCGAGTTTGTAAATTCTAACCC -3'
(R):5'- AACCATGTGCCCACTCATTCC -3'

Posted On

2022-03-25