Incidental Mutation 'R3844:Dcc'
ID 277300
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 # R3844 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 71386705-72484140 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 71959257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 172 (H172Y)
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: H172Y

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000073094
Gene: ENSMUSG00000060534
AA Change: H172Y

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: H172Y

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000110593
Gene: ENSMUSG00000060534
AA Change: H172Y

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: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik A T 11: 6,150,032 (GRCm39) R2* probably null Het
Acaca T A 11: 84,255,239 (GRCm39) D1932E probably damaging Het
Adam5 T A 8: 25,303,426 (GRCm39) D167V probably benign Het
Amt C T 9: 108,174,420 (GRCm39) R62C possibly damaging Het
Aqp11 T A 7: 97,387,046 (GRCm39) E50V probably damaging Het
Arid4b C T 13: 14,361,645 (GRCm39) S703L probably damaging Het
Ccl25 T G 8: 4,404,183 (GRCm39) V179G possibly damaging Het
Clk2 A G 3: 89,077,710 (GRCm39) N222S probably benign Het
Col13a1 C T 10: 61,685,988 (GRCm39) G668D unknown Het
Col20a1 A G 2: 180,634,242 (GRCm39) E69G probably damaging Het
Dock8 T G 19: 25,042,794 (GRCm39) Y125* probably null Het
E2f1 A G 2: 154,402,748 (GRCm39) S340P probably benign Het
Fars2 T C 13: 36,389,084 (GRCm39) F191S probably damaging Het
Filip1l T C 16: 57,392,790 (GRCm39) V888A probably benign Het
Fn1 T A 1: 71,648,733 (GRCm39) H1392L possibly damaging Het
Fsip2 C T 2: 82,819,950 (GRCm39) H5228Y possibly damaging Het
Galnt14 A G 17: 74,016,924 (GRCm39) probably null Het
Grm8 A T 6: 27,429,507 (GRCm39) N462K possibly damaging Het
Ireb2 A G 9: 54,799,789 (GRCm39) E410G probably damaging Het
Kdm2b A T 5: 123,072,856 (GRCm39) Y341N probably damaging Het
Kdm7a T A 6: 39,158,513 (GRCm39) I77F probably damaging Het
Klhl11 A T 11: 100,363,133 (GRCm39) M141K possibly damaging Het
Lactbl1 A G 4: 136,365,271 (GRCm39) H541R possibly damaging Het
Mylk A G 16: 34,742,247 (GRCm39) M920V probably benign Het
Or2w1b A G 13: 21,300,233 (GRCm39) T124A possibly damaging Het
Piwil4 T A 9: 14,641,256 (GRCm39) T179S possibly damaging Het
Ranbp2 T C 10: 58,313,717 (GRCm39) L1479P possibly damaging Het
Rpl3l A G 17: 24,952,916 (GRCm39) H292R probably benign Het
Rps6ka4 C A 19: 6,815,171 (GRCm39) E202* probably null Het
Rsph14 T C 10: 74,867,107 (GRCm39) D13G possibly damaging Het
Sri A G 5: 8,114,576 (GRCm39) D177G probably damaging Het
Tenm2 A G 11: 35,938,365 (GRCm39) V1437A probably damaging Het
Tiam2 A G 17: 3,471,926 (GRCm39) R523G probably damaging Het
Tm9sf3 A T 19: 41,205,555 (GRCm39) L561M possibly damaging Het
Tnrc6c G T 11: 117,646,309 (GRCm39) D1417Y probably damaging Het
Ubr4 C T 4: 139,186,437 (GRCm39) S648L probably damaging Het
Zfp827 T A 8: 79,863,248 (GRCm39) L69Q 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
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
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
Predicted Primers PCR Primer
(F):5'- GGAGGATACACTAAGTTCTGAAATACC -3'
(R):5'- AGCTTCTGAAATACAGTGTCTCACG -3'

Sequencing Primer
(F):5'- GAGCATCTGTAGACTCCA -3'
(R):5'- TGTCTCACGAAGAACAGCAGATACTG -3'
Posted On 2015-04-06