Incidental Mutation 'R4344:Dcc'
ID 324278
Institutional Source Beutler Lab
Gene Symbol Dcc
Ensembl Gene ENSMUSG00000060534
Gene Name deleted in colorectal carcinoma
Synonyms Igdcc1, C030036D22Rik
MMRRC Submission 041101-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4344 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 71386705-72484140 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 71507561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 917 (A917V)
Ref Sequence ENSEMBL: ENSMUSP00000073094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073379] [ENSMUST00000114943]
AlphaFold P70211
PDB Structure Structure of the myosin X MyTH4-FERM/DCC complex [X-RAY DIFFRACTION]
Crystal Structure of chicken Netrin-1 (LN-LE3) in complex with mouse DCC (FN4-5) [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000073379
AA Change: A917V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000073094
Gene: ENSMUSG00000060534
AA Change: A917V

DomainStartEndE-ValueType
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: A937V

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110593
Gene: ENSMUSG00000060534
AA Change: A937V

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1293 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (39/40)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,865,829 (GRCm39) R5S possibly damaging Het
Ccdc168 G A 1: 44,100,151 (GRCm39) L316F possibly damaging Het
Ccdc187 T A 2: 26,170,681 (GRCm39) K599I probably damaging Het
Ccn5 G A 2: 163,670,906 (GRCm39) V138M probably damaging Het
Cd38 A C 5: 44,026,431 (GRCm39) I72L probably benign Het
Cep19 C T 16: 31,925,883 (GRCm39) T97M probably damaging Het
Ces2a T G 8: 105,463,766 (GRCm39) D159E probably damaging Het
Dennd6b G A 15: 89,072,866 (GRCm39) A196V probably benign Het
Dlgap3 T C 4: 127,108,141 (GRCm39) S475P possibly damaging Het
Doc2a C T 7: 126,450,321 (GRCm39) P156S probably damaging Het
Elmo1 T A 13: 20,445,722 (GRCm39) probably null Het
Fbf1 A G 11: 116,038,568 (GRCm39) V851A probably benign Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gm5878 G A 6: 85,102,633 (GRCm39) R31* probably null Het
Klk1b8 C A 7: 43,595,186 (GRCm39) probably benign Het
Lmcd1 T A 6: 112,264,968 (GRCm39) probably benign Het
Lyst T A 13: 13,873,051 (GRCm39) I2750K probably benign Het
Muc4 A G 16: 32,590,666 (GRCm39) N2958S possibly damaging Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Ppp1r16b G A 2: 158,591,106 (GRCm39) V163I probably damaging Het
Prkdc T A 16: 15,585,886 (GRCm39) W2475R probably damaging Het
Rad54l C T 4: 115,954,551 (GRCm39) C684Y probably damaging Het
Ralgds T C 2: 28,442,107 (GRCm39) L96P probably damaging Het
Rasef T A 4: 73,663,326 (GRCm39) H167L probably damaging Het
Sh3bp2 T C 5: 34,712,886 (GRCm39) F165L possibly damaging Het
Slc38a9 T C 13: 112,865,749 (GRCm39) I482T probably benign Het
Tmprss6 T A 15: 78,343,627 (GRCm39) probably null Het
Trpm3 A T 19: 22,875,061 (GRCm39) S568C probably damaging Het
Ttc39c T A 18: 12,861,667 (GRCm39) probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ugt2b5 A T 5: 87,287,582 (GRCm39) V195E probably damaging Het
Vmn2r22 C T 6: 123,614,756 (GRCm39) G278D probably damaging Het
Yme1l1 G A 2: 23,063,073 (GRCm39) A215T probably benign Het
Zmynd15 C T 11: 70,351,894 (GRCm39) R38* probably null Het
Other mutations in Dcc
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GCAGAAGGGCTGTGAATTGC -3'
(R):5'- GCAGTGCATCTACTTTTGTCTG -3'

Sequencing Primer
(F):5'- GCACATGACATTATTTCACAAAGGAC -3'
(R):5'- GTCTTGATTCACTGAGTTCACAG -3'
Posted On 2015-06-24