Incidental Mutation 'R6508:Dcc'
ID 524049
Institutional Source Beutler Lab
Gene Symbol Dcc
Ensembl Gene ENSMUSG00000060534
Gene Name deleted in colorectal carcinoma
Synonyms Igdcc1, C030036D22Rik
MMRRC Submission 044638-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6508 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 71386705-72484140 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 71439144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 1246 (P1246Q)
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: P1246Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073094
Gene: ENSMUSG00000060534
AA Change: P1246Q

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: P1266Q

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110593
Gene: ENSMUSG00000060534
AA Change: P1266Q

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 G A 4: 144,291,590 (GRCm39) R39* probably null Het
Brca2 A T 5: 150,460,058 (GRCm39) E444D possibly damaging Het
Camkk2 G T 5: 122,884,382 (GRCm39) N346K probably damaging Het
Car4 C A 11: 84,856,469 (GRCm39) D252E possibly damaging Het
Chd1 A G 17: 15,958,895 (GRCm39) K649R probably benign Het
Col12a1 A G 9: 79,557,231 (GRCm39) Y1966H probably damaging Het
Crppa C T 12: 36,476,298 (GRCm39) A180V possibly damaging Het
Cts6 T A 13: 61,344,221 (GRCm39) H277L probably damaging Het
Dlg5 G A 14: 24,188,774 (GRCm39) T1739I probably benign Het
Eci1 T A 17: 24,656,283 (GRCm39) N164K probably damaging Het
Entpd7 G A 19: 43,679,525 (GRCm39) R26H probably damaging Het
Fanci A G 7: 79,093,516 (GRCm39) K1008E probably damaging Het
Htr2b T C 1: 86,030,186 (GRCm39) T170A possibly damaging Het
Irgm2 A G 11: 58,110,327 (GRCm39) E18G probably benign Het
Kdm1a A T 4: 136,281,621 (GRCm39) V630E probably damaging Het
Keap1 G A 9: 21,143,010 (GRCm39) T501I possibly damaging Het
L3mbtl3 T A 10: 26,194,325 (GRCm39) H424L unknown Het
Lrrc14b C T 13: 74,511,337 (GRCm39) D248N possibly damaging Het
Macf1 T A 4: 123,363,535 (GRCm39) D3364V probably damaging Het
Map3k20 G A 2: 72,272,253 (GRCm39) G794S probably benign Het
Mcat T C 15: 83,433,452 (GRCm39) Q34R probably benign Het
Mettl4 T C 17: 95,051,373 (GRCm39) E148G probably damaging Het
Mgat3 T C 15: 80,096,225 (GRCm39) S351P possibly damaging Het
Mllt1 A T 17: 57,234,054 (GRCm39) I44N probably damaging Het
Mlxipl G T 5: 135,157,474 (GRCm39) A337S probably benign Het
Naip1 A G 13: 100,572,973 (GRCm39) F254L probably damaging Het
Obscn A T 11: 58,944,973 (GRCm39) probably null Het
Or10q1 C T 19: 13,726,718 (GRCm39) P83S probably damaging Het
Pcdh12 G A 18: 38,414,390 (GRCm39) R912* probably null Het
Pcdh17 A G 14: 84,685,419 (GRCm39) N629D probably damaging Het
Pcnx1 T C 12: 81,959,479 (GRCm39) I170T probably damaging Het
Pgr A G 9: 8,956,290 (GRCm39) Y746C probably damaging Het
Pramel29 A T 4: 143,934,171 (GRCm39) L312* probably null Het
Pum2 T C 12: 8,798,861 (GRCm39) Y991H probably benign Het
Rcc1l A T 5: 134,198,077 (GRCm39) V185D probably damaging Het
Scarb1 A T 5: 125,381,389 (GRCm39) S52T possibly damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Spata4 T C 8: 55,053,887 (GRCm39) S18P probably benign Het
Stard13 G A 5: 150,986,754 (GRCm39) T134I probably benign Het
Tbc1d32 C T 10: 56,100,786 (GRCm39) C64Y probably damaging Het
Tll1 T G 8: 64,551,494 (GRCm39) I296L probably damaging Het
Tmem229b T G 12: 79,011,680 (GRCm39) T84P probably damaging Het
Ttn T C 2: 76,544,757 (GRCm39) T32782A possibly damaging Het
Vmn1r73 G A 7: 11,490,631 (GRCm39) V150I possibly damaging Het
Vmn2r80 T A 10: 79,030,290 (GRCm39) F705L probably benign 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
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
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'- AGGCACTGAGTCTTTCCAAAG -3'
(R):5'- TCTGTTCTCCAGCAAGAAGGAAG -3'

Sequencing Primer
(F):5'- GGCACTGAGTCTTTCCAAAGAATAAG -3'
(R):5'- TTAAGAGAATGTCAGTGAAACCATG -3'
Posted On 2018-06-22