Incidental Mutation 'R1797:Dcc'
ID 202426
Institutional Source Beutler Lab
Gene Symbol Dcc
Ensembl Gene ENSMUSG00000060534
Gene Name deleted in colorectal carcinoma
Synonyms C030036D22Rik, Igdcc1
MMRRC Submission 039827-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1797 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 71258738-72351069 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 71367161 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 1005 (L1005R)
Ref Sequence ENSEMBL: ENSMUSP00000110593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073379] [ENSMUST00000114943]
AlphaFold P70211
Predicted Effect probably damaging
Transcript: ENSMUST00000073379
AA Change: L985R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073094
Gene: ENSMUSG00000060534
AA Change: L985R

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 damaging
Transcript: ENSMUST00000114943
AA Change: L1005R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110593
Gene: ENSMUSG00000060534
AA Change: L1005R

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: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.6%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,198,459 (GRCm38) K200E possibly damaging Het
5830473C10Rik A T 5: 90,579,601 (GRCm38) E359D probably damaging Het
Abcc2 A T 19: 43,833,987 (GRCm38) Q1421H probably damaging Het
Abcc2 A G 19: 43,814,786 (GRCm38) E687G possibly damaging Het
Abcg3 C T 5: 104,939,164 (GRCm38) S534N possibly damaging Het
Acp1 A G 12: 30,896,114 (GRCm38) probably null Het
Adam12 C A 7: 133,967,861 (GRCm38) R295L probably benign Het
Alg1 C A 16: 5,239,143 (GRCm38) H213Q probably benign Het
Ap4b1 T A 3: 103,818,833 (GRCm38) W410R possibly damaging Het
As3mt A G 19: 46,724,934 (GRCm38) T307A possibly damaging Het
Cdc14a T C 3: 116,322,194 (GRCm38) I289V probably damaging Het
Cdk17 A G 10: 93,208,252 (GRCm38) I18V possibly damaging Het
Cep131 C T 11: 120,073,736 (GRCm38) probably null Het
Clca3a2 A G 3: 144,797,637 (GRCm38) Y851H probably benign Het
Cnih2 T C 19: 5,094,286 (GRCm38) K66E probably benign Het
Cpsf3 T A 12: 21,306,850 (GRCm38) N491K probably benign Het
Cux1 C T 5: 136,275,315 (GRCm38) E1253K probably benign Het
Ddx19b A T 8: 111,012,807 (GRCm38) M200K probably damaging Het
Ech1 A G 7: 28,831,863 (GRCm38) Y292C probably damaging Het
Edc4 G T 8: 105,891,085 (GRCm38) A1121S probably benign Het
Eml6 T A 11: 29,882,041 (GRCm38) I210F probably benign Het
Fam135b T C 15: 71,452,441 (GRCm38) T1226A probably benign Het
Flg2 C T 3: 93,200,976 (GRCm38) R104C probably damaging Het
Frzb T C 2: 80,446,528 (GRCm38) I105V possibly damaging Het
Gli3 A G 13: 15,713,512 (GRCm38) D504G probably damaging Het
Gm42669 A T 5: 107,507,817 (GRCm38) K1161* probably null Het
Gm6665 T C 18: 31,820,133 (GRCm38) E63G possibly damaging Het
Gm9923 T C 10: 72,309,763 (GRCm38) V148A probably benign Het
Hoxc5 T C 15: 103,014,434 (GRCm38) I118T probably benign Het
Hsp90b1 A G 10: 86,701,745 (GRCm38) V232A possibly damaging Het
Impdh1 T A 6: 29,207,169 (GRCm38) I59F probably damaging Het
Iqch G A 9: 63,588,377 (GRCm38) P111S possibly damaging Het
Itih1 G T 14: 30,929,899 (GRCm38) Q829K probably damaging Het
Kcnh2 C T 5: 24,322,672 (GRCm38) R894H probably damaging Het
Kmt5b G T 19: 3,814,833 (GRCm38) E632D probably benign Het
L2hgdh C T 12: 69,699,566 (GRCm38) M373I probably benign Het
Map3k4 C T 17: 12,264,019 (GRCm38) E604K probably benign Het
Mok T A 12: 110,808,045 (GRCm38) Y420F probably benign Het
Nedd1 G A 10: 92,698,739 (GRCm38) T303I possibly damaging Het
Nipal4 T A 11: 46,151,333 (GRCm38) M174L probably benign Het
Olfr806 A C 10: 129,738,709 (GRCm38) I69M probably benign Het
Pag1 T A 3: 9,693,886 (GRCm38) T391S probably benign Het
Palm3 A G 8: 84,028,803 (GRCm38) R315G probably benign Het
Patj C T 4: 98,687,438 (GRCm38) R1177W probably damaging Het
Pbld2 G A 10: 63,075,124 (GRCm38) probably null Het
Phldb1 A T 9: 44,716,545 (GRCm38) M81K probably damaging Het
Pkn2 A G 3: 142,809,528 (GRCm38) F682L probably damaging Het
Plce1 T C 19: 38,758,948 (GRCm38) probably null Het
Plekha8 T A 6: 54,640,974 (GRCm38) V518E probably damaging Het
Ppp1r3a T A 6: 14,717,982 (GRCm38) M978L probably benign Het
Ppp4r4 T A 12: 103,598,151 (GRCm38) C592S possibly damaging Het
Prdx6b T A 2: 80,293,202 (GRCm38) D118E possibly damaging Het
Ptprg T C 14: 12,199,743 (GRCm38) V52A probably damaging Het
Rab27b A G 18: 69,989,546 (GRCm38) M114T probably damaging Het
Ralgps1 A G 2: 33,340,711 (GRCm38) probably null Het
Rasa3 G A 8: 13,582,372 (GRCm38) P506L probably benign Het
Rps6kb1 G A 11: 86,502,808 (GRCm38) R499* probably null Het
S1pr4 A G 10: 81,499,190 (GRCm38) M150T probably damaging Het
Scube2 T C 7: 109,831,675 (GRCm38) D439G probably damaging Het
Serpina1e T C 12: 103,950,891 (GRCm38) K173R probably benign Het
Serpina3m T A 12: 104,389,515 (GRCm38) I147N probably damaging Het
Sh3rf3 G T 10: 59,086,667 (GRCm38) G522* probably null Het
Smad1 A T 8: 79,343,844 (GRCm38) V355E probably damaging Het
Srsf11 A G 3: 158,019,428 (GRCm38) V211A possibly damaging Het
Stard9 C A 2: 120,673,636 (GRCm38) S221R probably damaging Het
Stt3a C T 9: 36,743,415 (GRCm38) probably null Het
Syne2 T C 12: 75,963,783 (GRCm38) V2488A probably benign Het
Tbc1d23 T C 16: 57,173,100 (GRCm38) T568A possibly damaging Het
Tnn A C 1: 160,140,688 (GRCm38) V378G probably damaging Het
Trim50 T C 5: 135,353,501 (GRCm38) V69A possibly damaging Het
Ttll10 A T 4: 156,047,567 (GRCm38) D19E probably damaging Het
Ushbp1 G A 8: 71,388,923 (GRCm38) R421C probably damaging Het
Vmn2r2 T C 3: 64,134,707 (GRCm38) T196A probably benign Het
Wdr64 G A 1: 175,812,019 (GRCm38) S1028N probably damaging Het
Wwtr1 T C 3: 57,462,575 (GRCm38) Y373C probably damaging Het
Zeb1 A T 18: 5,766,298 (GRCm38) K216* probably null Het
Zfp39 T C 11: 58,900,660 (GRCm38) D67G probably damaging Het
Zfp40 A G 17: 23,175,540 (GRCm38) I691T possibly damaging Het
Zfp532 T C 18: 65,625,144 (GRCm38) V716A probably benign Het
Zfp616 T A 11: 74,085,279 (GRCm38) C791* probably null Het
Zfp932 G A 5: 109,996,623 (GRCm38) probably benign Het
Other mutations in Dcc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Dcc APN 18 71,384,225 (GRCm38) critical splice acceptor site probably null
IGL00781:Dcc APN 18 71,809,195 (GRCm38) missense probably benign 0.25
IGL00818:Dcc APN 18 71,955,012 (GRCm38) missense probably benign
IGL00895:Dcc APN 18 71,810,800 (GRCm38) missense probably damaging 0.98
IGL00969:Dcc APN 18 71,456,883 (GRCm38) missense probably benign 0.25
IGL01019:Dcc APN 18 71,809,090 (GRCm38) missense probably benign 0.00
IGL01132:Dcc APN 18 71,682,174 (GRCm38) nonsense probably null
IGL01349:Dcc APN 18 71,370,737 (GRCm38) missense probably damaging 1.00
IGL01355:Dcc APN 18 71,809,114 (GRCm38) missense probably benign 0.00
IGL01374:Dcc APN 18 71,374,553 (GRCm38) missense probably damaging 1.00
IGL01947:Dcc APN 18 71,826,209 (GRCm38) missense probably benign
IGL02470:Dcc APN 18 71,955,082 (GRCm38) splice site probably benign
IGL02508:Dcc APN 18 71,370,702 (GRCm38) missense probably benign 0.00
IGL02999:Dcc APN 18 71,378,678 (GRCm38) missense possibly damaging 0.68
IGL03034:Dcc APN 18 71,575,143 (GRCm38) nonsense probably null
IGL03118:Dcc APN 18 71,420,273 (GRCm38) missense probably benign 0.00
IGL03133:Dcc APN 18 71,262,955 (GRCm38) splice site probably benign
IGL03357:Dcc APN 18 71,327,554 (GRCm38) missense probably damaging 1.00
Hyperrev UTSW 18 71,259,015 (GRCm38) missense probably damaging 1.00
LCD18:Dcc UTSW 18 72,297,447 (GRCm38) intron probably benign
P0031:Dcc UTSW 18 71,384,228 (GRCm38) splice site probably benign
PIT4142001:Dcc UTSW 18 71,384,226 (GRCm38) splice site probably null
R0076:Dcc UTSW 18 71,321,046 (GRCm38) nonsense probably null
R0355:Dcc UTSW 18 71,575,208 (GRCm38) missense possibly damaging 0.75
R0370:Dcc UTSW 18 71,587,985 (GRCm38) missense possibly damaging 0.92
R0383:Dcc UTSW 18 71,420,263 (GRCm38) missense probably damaging 0.99
R0541:Dcc UTSW 18 71,259,015 (GRCm38) missense probably damaging 1.00
R0690:Dcc UTSW 18 71,809,204 (GRCm38) splice site probably benign
R0762:Dcc UTSW 18 71,342,705 (GRCm38) splice site probably benign
R0765:Dcc UTSW 18 71,362,990 (GRCm38) missense probably damaging 1.00
R0846:Dcc UTSW 18 71,826,212 (GRCm38) missense probably benign 0.06
R1230:Dcc UTSW 18 71,682,313 (GRCm38) missense probably damaging 1.00
R1662:Dcc UTSW 18 71,420,338 (GRCm38) missense probably benign 0.00
R1663:Dcc UTSW 18 71,826,052 (GRCm38) missense probably damaging 1.00
R1697:Dcc UTSW 18 71,370,737 (GRCm38) missense probably damaging 1.00
R1770:Dcc UTSW 18 71,446,399 (GRCm38) missense probably benign 0.01
R1781:Dcc UTSW 18 71,378,717 (GRCm38) missense probably benign 0.41
R2101:Dcc UTSW 18 71,810,870 (GRCm38) missense possibly damaging 0.62
R2190:Dcc UTSW 18 71,547,420 (GRCm38) missense possibly damaging 0.89
R2248:Dcc UTSW 18 71,826,168 (GRCm38) missense probably benign 0.00
R2262:Dcc UTSW 18 71,374,551 (GRCm38) missense probably damaging 1.00
R2442:Dcc UTSW 18 71,456,883 (GRCm38) missense probably damaging 0.98
R3844:Dcc UTSW 18 71,826,186 (GRCm38) missense probably benign 0.01
R4037:Dcc UTSW 18 72,350,397 (GRCm38) missense possibly damaging 0.57
R4085:Dcc UTSW 18 71,826,169 (GRCm38) missense probably benign 0.00
R4344:Dcc UTSW 18 71,374,490 (GRCm38) missense probably damaging 0.99
R4499:Dcc UTSW 18 71,547,317 (GRCm38) missense probably benign 0.07
R4611:Dcc UTSW 18 71,548,998 (GRCm38) splice site probably null
R4811:Dcc UTSW 18 71,299,483 (GRCm38) missense probably benign 0.31
R4937:Dcc UTSW 18 71,542,249 (GRCm38) nonsense probably null
R5125:Dcc UTSW 18 71,456,877 (GRCm38) missense probably benign 0.02
R5292:Dcc UTSW 18 71,306,088 (GRCm38) missense probably damaging 1.00
R5297:Dcc UTSW 18 71,378,738 (GRCm38) missense probably benign 0.00
R5317:Dcc UTSW 18 71,384,155 (GRCm38) missense possibly damaging 0.78
R5691:Dcc UTSW 18 71,575,083 (GRCm38) missense probably damaging 1.00
R5693:Dcc UTSW 18 71,575,082 (GRCm38) missense probably damaging 1.00
R6091:Dcc UTSW 18 71,809,114 (GRCm38) missense probably benign 0.00
R6291:Dcc UTSW 18 71,682,167 (GRCm38) missense probably benign 0.06
R6307:Dcc UTSW 18 71,810,755 (GRCm38) missense probably benign 0.15
R6343:Dcc UTSW 18 71,336,035 (GRCm38) missense probably damaging 1.00
R6508:Dcc UTSW 18 71,306,073 (GRCm38) missense probably damaging 1.00
R6701:Dcc UTSW 18 71,809,120 (GRCm38) missense probably benign 0.02
R6810:Dcc UTSW 18 71,370,693 (GRCm38) missense probably damaging 0.99
R7078:Dcc UTSW 18 71,547,398 (GRCm38) missense probably benign 0.05
R7172:Dcc UTSW 18 71,378,684 (GRCm38) missense probably benign 0.04
R7345:Dcc UTSW 18 71,378,824 (GRCm38) missense probably benign 0.00
R7365:Dcc UTSW 18 71,826,123 (GRCm38) missense probably damaging 0.98
R7395:Dcc UTSW 18 71,374,569 (GRCm38) nonsense probably null
R7455:Dcc UTSW 18 71,420,323 (GRCm38) missense probably benign 0.00
R7461:Dcc UTSW 18 71,306,034 (GRCm38) missense probably damaging 1.00
R7485:Dcc UTSW 18 71,420,246 (GRCm38) missense probably benign 0.00
R7732:Dcc UTSW 18 71,446,435 (GRCm38) missense probably benign 0.24
R7886:Dcc UTSW 18 71,954,868 (GRCm38) nonsense probably null
R8097:Dcc UTSW 18 71,679,502 (GRCm38) missense probably damaging 1.00
R8137:Dcc UTSW 18 71,378,712 (GRCm38) missense probably benign 0.00
R8188:Dcc UTSW 18 71,810,857 (GRCm38) missense probably benign
R8236:Dcc UTSW 18 71,955,018 (GRCm38) missense probably benign
R8802:Dcc UTSW 18 71,826,054 (GRCm38) missense probably damaging 1.00
R8869:Dcc UTSW 18 71,378,684 (GRCm38) missense probably benign 0.04
R9221:Dcc UTSW 18 71,420,362 (GRCm38) missense possibly damaging 0.66
R9282:Dcc UTSW 18 71,682,178 (GRCm38) missense possibly damaging 0.85
R9366:Dcc UTSW 18 71,575,210 (GRCm38) missense probably damaging 1.00
R9566:Dcc UTSW 18 71,810,795 (GRCm38) missense possibly damaging 0.92
R9607:Dcc UTSW 18 71,588,001 (GRCm38) missense probably damaging 1.00
W0251:Dcc UTSW 18 71,826,083 (GRCm38) missense probably damaging 1.00
X0020:Dcc UTSW 18 71,321,100 (GRCm38) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AGTTATTTTCTGACCATCCACCAAG -3'
(R):5'- TGCTAGCAAGACTGAATGTTGTAG -3'

Sequencing Primer
(F):5'- TTTTCTGACCATCCACCAAGAAAAG -3'
(R):5'- GTGCGTGTTTGATAGGAGAA -3'
Posted On 2014-06-23