Mutagenetix > Incidental Mutation

Incidental Mutation 'R5297:Dcc'

405515

Institutional Source

Beutler Lab

Gene Symbol

Dcc

Ensembl Gene

ENSMUSG00000060534

Gene Name

deleted in colorectal carcinoma

Synonyms

Igdcc1, C030036D22Rik

MMRRC Submission

042880-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5297 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71386705-72484140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71511809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 869 (V869I)

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: V849I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000073094
Gene: ENSMUSG00000060534
AA Change: V849I

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: V869I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110593
Gene: ENSMUSG00000060534
AA Change: V869I

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: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	G	T	1: 155,463,204 (GRCm39)	A135S	probably benign	Het
Agbl4	A	G	4: 111,423,895 (GRCm39)	K307R	possibly damaging	Het
Akna	T	C	4: 63,300,083 (GRCm39)	E653G	possibly damaging	Het
Arhgap26	T	C	18: 39,254,941 (GRCm39)	Y273H	probably damaging	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
Atp1a1	C	T	3: 101,498,443 (GRCm39)	V250M	possibly damaging	Het
Cacna1c	T	G	6: 118,719,322 (GRCm39)	D215A	probably damaging	Het
Cadps	T	A	14: 12,822,345 (GRCm38)	N132Y	probably damaging	Het
Casp6	T	C	3: 129,704,204 (GRCm39)	F97L	possibly damaging	Het
Ckap2l	T	C	2: 129,127,290 (GRCm39)	N296S	possibly damaging	Het
Col6a4	T	C	9: 105,952,066 (GRCm39)	K611E	probably benign	Het
Copa	A	G	1: 171,940,675 (GRCm39)	H696R	probably damaging	Het
Cyp2a4	T	A	7: 26,011,629 (GRCm39)	N283K	probably benign	Het
Efemp1	G	T	11: 28,817,868 (GRCm39)	G116C	probably damaging	Het
F830045P16Rik	T	C	2: 129,302,473 (GRCm39)	E373G	probably benign	Het
Fbxo9	T	C	9: 77,993,561 (GRCm39)	T318A	probably benign	Het
Gipr	A	G	7: 18,891,469 (GRCm39)	W403R	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Golgb1	G	A	16: 36,695,978 (GRCm39)		probably benign	Het
Hdac1-ps	A	G	17: 78,800,187 (GRCm39)	S393G	probably benign	Het
Herc3	T	C	6: 58,833,626 (GRCm39)	L171P	probably damaging	Het
Il5ra	A	G	6: 106,715,095 (GRCm39)	I221T	probably benign	Het
Itgb2	A	G	10: 77,400,501 (GRCm39)	I705V	probably damaging	Het
Map4k4	G	T	1: 40,001,377 (GRCm39)	V55F	probably damaging	Het
Mast1	A	G	8: 85,639,947 (GRCm39)		probably null	Het
Mitf	G	T	6: 97,971,391 (GRCm39)	G186V	probably benign	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Nrcam	T	C	12: 44,591,567 (GRCm39)	F204L	probably damaging	Het
Or10g1	A	G	14: 52,647,675 (GRCm39)	L218P	probably damaging	Het
Or10x4	A	G	1: 174,218,766 (GRCm39)	M44V	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1e22	A	T	11: 73,377,215 (GRCm39)	V145E	probably damaging	Het
Or2a12	T	C	6: 42,904,371 (GRCm39)	S69P	probably benign	Het
Or52n4b	A	T	7: 108,144,611 (GRCm39)	N291I	probably damaging	Het
Or5as1	T	C	2: 86,980,793 (GRCm39)	I71V	probably benign	Het
Pclo	A	T	5: 14,726,263 (GRCm39)		probably benign	Het
Pik3ca	T	A	3: 32,504,202 (GRCm39)	Y631N	probably damaging	Het
Pramel19	T	A	4: 101,798,348 (GRCm39)	D106E	possibly damaging	Het
Ptk2b	T	C	14: 66,409,966 (GRCm39)	D462G	probably benign	Het
Rnf19a	A	G	15: 36,247,924 (GRCm39)	S427P	probably damaging	Het
Scn3a	T	A	2: 65,299,378 (GRCm39)	Y1376F	possibly damaging	Het
Shoc1	A	G	4: 59,047,543 (GRCm39)	W1359R	probably benign	Het
Spem1	A	G	11: 69,711,753 (GRCm39)	Y304H	probably damaging	Het
Stk38l	C	A	6: 146,677,153 (GRCm39)	Y450*	probably null	Het
Stx19	A	G	16: 62,642,337 (GRCm39)	E51G	probably damaging	Het
Ttc41	C	G	10: 86,612,443 (GRCm39)	Q1239E	probably benign	Het
Tuba3a	C	T	6: 125,258,303 (GRCm39)	R229H	probably damaging	Het
Utp18	A	T	11: 93,766,915 (GRCm39)	V264D	probably damaging	Het
V1rd19	T	C	7: 23,702,714 (GRCm39)	V60A	probably damaging	Het
Virma	T	G	4: 11,494,819 (GRCm39)	V40G	probably damaging	Het
Vmn1r160	C	T	7: 22,570,715 (GRCm39)	Q23*	probably null	Het
Vmn2r13	T	C	5: 109,339,805 (GRCm39)	I57V	probably benign	Het
Vmn2r26	T	A	6: 124,038,832 (GRCm39)	F802L	probably damaging	Het
Vmn2r61	A	G	7: 41,909,646 (GRCm39)	D57G	probably benign	Het
Vps13c	A	G	9: 67,785,413 (GRCm39)	N260S	probably damaging	Het
Xirp1	C	A	9: 119,848,668 (GRCm39)	A72S	probably damaging	Het
Zfp212	T	C	6: 47,906,011 (GRCm39)	V190A	probably benign	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	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
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'- GTAGGAAAATGACTTACAACAGACC -3'
(R):5'- ACTCATTGTGATGTGTTGCCAC -3'

Sequencing Primer
(F):5'- TTACAACAGACCAGGAAACATTG -3'
(R):5'- GTGTTGCCACTGATATTTATTTTGAC -3'

Posted On

2016-07-22