Incidental Mutation 'R6291:Dcc'
ID 508476
Institutional Source Beutler Lab
Gene Symbol Dcc
Ensembl Gene ENSMUSG00000060534
Gene Name deleted in colorectal carcinoma
Synonyms Igdcc1, C030036D22Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6291 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 71386705-72484140 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71815238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 379 (I379L)
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: I379L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000073094
Gene: ENSMUSG00000060534
AA Change: I379L

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 probably benign
Transcript: ENSMUST00000114943
AA Change: I379L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000110593
Gene: ENSMUSG00000060534
AA Change: I379L

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 0.0871 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 98% (86/88)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 C T 8: 87,293,173 (GRCm39) G5D possibly damaging Het
Adamts9 T C 6: 92,867,101 (GRCm39) K95R probably damaging Het
Adap1 G T 5: 139,259,246 (GRCm39) L314M probably benign Het
Alkbh1 T A 12: 87,475,864 (GRCm39) E306V possibly damaging Het
Alpk2 T A 18: 65,438,972 (GRCm39) D1274V possibly damaging Het
Ankrd31 A C 13: 97,014,746 (GRCm39) K1188N possibly damaging Het
Aox1 T A 1: 58,369,965 (GRCm39) M759K probably damaging Het
Atp13a3 T A 16: 30,155,061 (GRCm39) D961V probably damaging Het
Bcl11a G A 11: 24,108,321 (GRCm39) G100R probably damaging Het
Bpifc G A 10: 85,812,122 (GRCm39) A362V probably damaging Het
Btaf1 C T 19: 36,950,408 (GRCm39) T546I probably benign Het
Casd1 C A 6: 4,619,834 (GRCm39) P193Q probably damaging Het
Cdhr1 T C 14: 36,811,422 (GRCm39) T230A probably benign Het
Celsr3 T G 9: 108,706,041 (GRCm39) D841E probably damaging Het
Cenpj T C 14: 56,789,433 (GRCm39) D872G probably benign Het
Cep95 G T 11: 106,706,422 (GRCm39) A559S probably damaging Het
Chpt1 A T 10: 88,311,306 (GRCm39) C62* probably null Het
Cspg4b T A 13: 113,456,981 (GRCm39) I1009N possibly damaging Het
Cspp1 A G 1: 10,134,559 (GRCm39) K103R probably damaging Het
Ctla4 T C 1: 60,951,837 (GRCm39) V122A probably benign Het
Cyp3a11 A G 5: 145,799,237 (GRCm39) F317L possibly damaging Het
Daam1 T C 12: 71,993,025 (GRCm39) L338P unknown Het
Dennd2c C A 3: 103,038,925 (GRCm39) C24* probably null Het
Dnai3 G A 3: 145,772,648 (GRCm39) S466L probably benign Het
Dnajc12 A G 10: 63,233,053 (GRCm39) I65V probably benign Het
Dock3 T A 9: 106,785,631 (GRCm39) M208L probably benign Het
Dsg1b T C 18: 20,537,848 (GRCm39) I588T possibly damaging Het
Eif1b T C 9: 120,323,206 (GRCm39) L22S probably benign Het
Ep300 T A 15: 81,532,708 (GRCm39) S1649T unknown Het
Eps15 CAAA CAA 4: 109,162,900 (GRCm39) probably null Het
Ercc6 A T 14: 32,291,943 (GRCm39) E1102D probably benign Het
Gsdmc3 T C 15: 63,732,090 (GRCm39) N312S probably benign Het
Guca2b A T 4: 119,514,890 (GRCm39) L57Q probably damaging Het
Heatr5b G T 17: 79,069,526 (GRCm39) H1740Q probably benign Het
Hecw1 G A 13: 14,697,592 (GRCm39) probably benign Het
Icam5 A G 9: 20,948,217 (GRCm39) H675R probably benign Het
Il18rap T C 1: 40,564,049 (GRCm39) F56L probably benign Het
Iqgap3 T A 3: 87,997,037 (GRCm39) probably null Het
Itsn1 T C 16: 91,664,984 (GRCm39) probably benign Het
Jakmip3 A T 7: 138,622,585 (GRCm39) D315V probably damaging Het
Kif24 A G 4: 41,413,959 (GRCm39) Y328H probably damaging Het
Kmt2a A T 9: 44,744,171 (GRCm39) probably benign Het
Kng1 A G 16: 22,898,475 (GRCm39) E625G probably damaging Het
Man2b1 C T 8: 85,823,675 (GRCm39) T973I probably benign Het
Masp2 G A 4: 148,687,210 (GRCm39) V31M probably damaging Het
Myo18b C T 5: 113,013,601 (GRCm39) R785H possibly damaging Het
Naa15 G A 3: 51,350,212 (GRCm39) G103D probably damaging Het
Or4f15 A G 2: 111,813,969 (GRCm39) V150A probably benign Het
Or5m11b A G 2: 85,805,926 (GRCm39) Y113C probably damaging Het
Or7e177 T A 9: 20,211,899 (GRCm39) D134E probably damaging Het
Papln A G 12: 83,829,789 (GRCm39) N970S probably benign Het
Pick1 T A 15: 79,135,928 (GRCm39) probably null Het
Pigr A C 1: 130,769,498 (GRCm39) D103A probably benign Het
Plekhf1 A C 7: 37,921,029 (GRCm39) F180V possibly damaging Het
Plxnc1 A G 10: 94,669,504 (GRCm39) probably null Het
Polr3f A G 2: 144,376,308 (GRCm39) I136V probably damaging Het
Ppp2r2c T C 5: 37,097,468 (GRCm39) M218T possibly damaging Het
Prox2 C T 12: 85,136,420 (GRCm39) V466I probably damaging Het
Prrc2a G A 17: 35,373,909 (GRCm39) L1479F probably damaging Het
Rbm24 T A 13: 46,575,313 (GRCm39) probably null Het
Rcc1l A T 5: 134,195,560 (GRCm39) probably null Het
Ripk4 A C 16: 97,556,323 (GRCm39) L140R probably damaging Het
Rmnd1 A T 10: 4,372,135 (GRCm39) L188Q probably damaging Het
Rnf170 C T 8: 26,630,992 (GRCm39) P249S probably damaging Het
Rras A G 7: 44,667,595 (GRCm39) probably null Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Scn7a T A 2: 66,530,458 (GRCm39) D629V probably damaging Het
Sipa1l3 A G 7: 29,087,558 (GRCm39) S556P probably damaging Het
Smarca2 C T 19: 26,608,292 (GRCm39) A117V probably damaging Het
Snca C T 6: 60,792,702 (GRCm39) A69T probably damaging Het
Snx2 T C 18: 53,342,737 (GRCm39) probably null Het
Spp1 T A 5: 104,587,242 (GRCm39) S109T possibly damaging Het
Stoml3 T C 3: 53,414,937 (GRCm39) L243P probably damaging Het
Susd2 A G 10: 75,473,408 (GRCm39) F789L possibly damaging Het
Sycp1 A G 3: 102,816,277 (GRCm39) M419T probably damaging Het
Thoc1 T C 18: 9,993,330 (GRCm39) V563A probably benign Het
Tmprss11g T C 5: 86,635,281 (GRCm39) I398V probably damaging Het
Tox3 A G 8: 90,975,566 (GRCm39) L355P probably damaging Het
Tpp1 A G 7: 105,396,223 (GRCm39) I492T probably benign Het
Trim21 A T 7: 102,213,289 (GRCm39) L3Q probably damaging Het
Ttn A C 2: 76,738,080 (GRCm39) V4153G probably benign Het
Ttn T C 2: 76,744,638 (GRCm39) probably benign Het
Unc80 A G 1: 66,560,756 (GRCm39) E828G possibly damaging Het
Vav3 A G 3: 109,416,170 (GRCm39) N263S possibly damaging Het
Vmn1r183 A C 7: 23,754,982 (GRCm39) T262P possibly damaging Het
Vmn2r67 G A 7: 84,799,142 (GRCm39) P522S possibly damaging Het
Vps35 T A 8: 86,026,086 (GRCm39) M1L probably benign Het
Xpo7 A T 14: 70,942,130 (GRCm39) L79* probably null Het
Zc3h14 G A 12: 98,726,087 (GRCm39) R324H probably damaging Het
Zfp330 T C 8: 83,499,613 (GRCm39) T6A probably damaging Het
Zfp948 T A 17: 21,807,286 (GRCm39) H159Q unknown 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
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'- AGCAGGCGAATCCTAGTTCC -3'
(R):5'- ATGCAACCATGTGCCCACTC -3'

Sequencing Primer
(F):5'- GCATTCTGCAACCGAGTTTG -3'
(R):5'- AACCATGTGCCCACTCATTCC -3'
Posted On 2018-03-15