Incidental Mutation 'IGL01019:Dcc'
ID 54082
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01019
Quality Score
Status
Chromosome 18
Chromosomal Location 71386705-72484140 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71942161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 319 (I319V)
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: I319V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000073094
Gene: ENSMUSG00000060534
AA Change: I319V

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: I319V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000110593
Gene: ENSMUSG00000060534
AA Change: I319V

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
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930022D16Rik T C 11: 109,308,737 (GRCm39) probably benign Het
Aatk T C 11: 119,903,101 (GRCm39) S375G probably benign Het
Abcg8 T C 17: 84,999,423 (GRCm39) M173T probably benign Het
B3galt2 A C 1: 143,522,495 (GRCm39) R210S probably benign Het
Bltp1 G T 3: 37,061,133 (GRCm39) probably null Het
Capn5 C T 7: 97,784,971 (GRCm39) A168T probably damaging Het
Cbx7 C T 15: 79,814,829 (GRCm39) G24D probably damaging Het
Ccdc7a A T 8: 129,788,099 (GRCm39) S77T probably benign Het
Cd200r2 T A 16: 44,729,832 (GRCm39) probably benign Het
Cdh11 T C 8: 103,406,377 (GRCm39) H32R probably benign Het
Chdh A T 14: 29,753,289 (GRCm39) N66I probably benign Het
Clca3a2 G A 3: 144,519,388 (GRCm39) Q263* probably null Het
Depdc5 G T 5: 33,050,745 (GRCm39) M170I probably damaging Het
Dop1b T A 16: 93,607,117 (GRCm39) L2140Q probably benign Het
Frem3 G A 8: 81,341,763 (GRCm39) G1352E probably benign Het
Fsd1l T A 4: 53,694,742 (GRCm39) C389S probably damaging Het
Grin2c C T 11: 115,148,936 (GRCm39) A221T possibly damaging Het
Gstz1 C A 12: 87,210,575 (GRCm39) P153T probably damaging Het
Itgb2 T C 10: 77,378,237 (GRCm39) S22P possibly damaging Het
Krt87 G T 15: 101,336,312 (GRCm39) Q114K possibly damaging Het
Krtap5-4 A C 7: 141,857,647 (GRCm39) S106R unknown Het
Lats1 T C 10: 7,581,435 (GRCm39) V740A probably damaging Het
Mcm9 C A 10: 53,506,041 (GRCm39) G78C probably damaging Het
Mn1 G A 5: 111,569,413 (GRCm39) E1128K possibly damaging Het
Myo1f G A 17: 33,811,977 (GRCm39) R592H possibly damaging Het
Nfat5 G T 8: 108,094,146 (GRCm39) A277S probably damaging Het
Nfkbia T A 12: 55,537,327 (GRCm39) Y254F probably damaging Het
Nr3c2 A T 8: 77,635,843 (GRCm39) N315Y probably damaging Het
Otof T C 5: 30,562,560 (GRCm39) M258V probably benign Het
Panx3 C T 9: 37,572,767 (GRCm39) C261Y probably damaging Het
Pdia2 C A 17: 26,417,896 (GRCm39) G38W probably damaging Het
Psg19 G T 7: 18,527,971 (GRCm39) Y257* probably null Het
Ptpre A T 7: 135,280,054 (GRCm39) K586* probably null Het
Reps1 A G 10: 18,000,643 (GRCm39) R752G probably damaging Het
Rpgrip1 T A 14: 52,368,633 (GRCm39) D277E possibly damaging Het
Rpl21-ps6 A G 17: 56,222,671 (GRCm39) noncoding transcript Het
Serpinf2 T A 11: 75,327,333 (GRCm39) E198V possibly damaging Het
Sh3tc1 A G 5: 35,860,719 (GRCm39) L1046P probably damaging Het
Snw1 T C 12: 87,497,711 (GRCm39) E426G probably benign Het
Sord T A 2: 122,094,564 (GRCm39) N317K probably benign Het
Taar3 A T 10: 23,826,330 (GRCm39) D292V probably damaging Het
Tdrd3 C A 14: 87,709,618 (GRCm39) T94K probably damaging Het
Ttn C A 2: 76,687,165 (GRCm39) E736* probably null Het
Usp32 A G 11: 84,930,091 (GRCm39) V562A probably damaging Het
Vmn1r169 T G 7: 23,276,611 (GRCm39) M1R probably null Het
Vmn2r3 C T 3: 64,167,304 (GRCm39) C609Y probably damaging Het
Vmn2r69 T C 7: 85,055,739 (GRCm39) T800A probably benign Het
Vmn2r72 G A 7: 85,387,542 (GRCm39) T674I probably benign Het
Zfp160 T A 17: 21,241,088 (GRCm39) M52K possibly damaging Het
Zfp607a T A 7: 27,578,042 (GRCm39) C371S probably damaging 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
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
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
Posted On 2013-06-28