Incidental Mutation 'R1697:Dcc'
| ID |
192365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcc
|
| Ensembl Gene |
ENSMUSG00000060534 |
| Gene Name |
deleted in colorectal carcinoma |
| Synonyms |
Igdcc1, C030036D22Rik |
| MMRRC Submission |
039730-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1697 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
71386705-72484140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71503808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 950
(D950V)
|
| 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: D930V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000073094
Gene: ENSMUSG00000060534
AA Change: D930V
| Domain | Start | End | E-Value | Type |
|---|
|
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: D950V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110593
Gene: ENSMUSG00000060534
AA Change: D950V
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.5980 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
99% (67/68) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
T |
13: 60,992,928 (GRCm39) |
D250E |
probably damaging |
Het |
| 4930571K23Rik |
A |
G |
7: 124,968,201 (GRCm39) |
|
noncoding transcript |
Het |
| Acsl3 |
T |
C |
1: 78,683,114 (GRCm39) |
|
probably benign |
Het |
| Acsl6 |
C |
A |
11: 54,220,792 (GRCm39) |
T244K |
probably damaging |
Het |
| Adam26b |
T |
A |
8: 43,974,000 (GRCm39) |
N334I |
probably damaging |
Het |
| Adgrl4 |
C |
T |
3: 151,223,248 (GRCm39) |
T608M |
probably damaging |
Het |
| Aldh2 |
A |
G |
5: 121,716,404 (GRCm39) |
|
probably null |
Het |
| Alms1 |
A |
G |
6: 85,599,436 (GRCm39) |
T1890A |
possibly damaging |
Het |
| Capn7 |
C |
T |
14: 31,082,117 (GRCm39) |
T441M |
probably damaging |
Het |
| Cd9 |
A |
T |
6: 125,441,367 (GRCm39) |
C85S |
probably damaging |
Het |
| Chrm3 |
T |
C |
13: 9,928,794 (GRCm39) |
T81A |
probably damaging |
Het |
| Ctif |
A |
G |
18: 75,757,376 (GRCm39) |
|
probably benign |
Het |
| Eif4g1 |
T |
C |
16: 20,498,530 (GRCm39) |
V422A |
probably damaging |
Het |
| Enthd1 |
A |
G |
15: 80,337,124 (GRCm39) |
S437P |
probably damaging |
Het |
| Fads1 |
A |
G |
19: 10,171,464 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,856,176 (GRCm39) |
I3869L |
probably benign |
Het |
| Fbxw5 |
T |
A |
2: 25,392,473 (GRCm39) |
V85E |
possibly damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,853,772 (GRCm39) |
C1579S |
probably damaging |
Het |
| Fem1b |
T |
C |
9: 62,704,456 (GRCm39) |
D268G |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,327,225 (GRCm39) |
L1772P |
probably damaging |
Het |
| Gtf3a |
C |
A |
5: 146,888,723 (GRCm39) |
Q145K |
possibly damaging |
Het |
| Hacl1 |
T |
C |
14: 31,342,957 (GRCm39) |
|
probably null |
Het |
| Herc2 |
T |
A |
7: 55,803,653 (GRCm39) |
F2229L |
probably benign |
Het |
| Hs3st4 |
A |
T |
7: 123,996,080 (GRCm39) |
I249L |
probably benign |
Het |
| Iqsec1 |
A |
T |
6: 90,786,752 (GRCm39) |
Y7* |
probably null |
Het |
| Irag2 |
A |
G |
6: 145,083,341 (GRCm39) |
|
probably benign |
Het |
| Klk1b1 |
T |
A |
7: 43,619,750 (GRCm39) |
M103K |
probably benign |
Het |
| Krt5 |
A |
G |
15: 101,619,020 (GRCm39) |
V287A |
probably benign |
Het |
| Lgals12 |
T |
A |
19: 7,581,530 (GRCm39) |
Q59L |
possibly damaging |
Het |
| Loxl4 |
A |
G |
19: 42,593,379 (GRCm39) |
V264A |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,712,695 (GRCm39) |
D3099G |
probably damaging |
Het |
| Mical3 |
G |
A |
6: 120,984,369 (GRCm39) |
T169I |
possibly damaging |
Het |
| Muc21 |
A |
C |
17: 35,931,540 (GRCm39) |
|
probably benign |
Het |
| Myef2l |
G |
A |
3: 10,154,613 (GRCm39) |
V461I |
possibly damaging |
Het |
| Myh7b |
A |
C |
2: 155,462,054 (GRCm39) |
S317R |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,361,872 (GRCm39) |
|
probably null |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or1j17 |
C |
T |
2: 36,578,259 (GRCm39) |
L82F |
probably damaging |
Het |
| Or2t49 |
A |
T |
11: 58,392,502 (GRCm39) |
S293R |
probably damaging |
Het |
| Or5h22 |
A |
G |
16: 58,895,270 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or5i1 |
T |
A |
2: 87,612,929 (GRCm39) |
I15N |
possibly damaging |
Het |
| Or6c2b |
T |
C |
10: 128,947,737 (GRCm39) |
T186A |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,577,087 (GRCm39) |
Y982H |
probably damaging |
Het |
| Pias3 |
T |
C |
3: 96,609,541 (GRCm39) |
L312P |
probably damaging |
Het |
| Plekhm1 |
G |
A |
11: 103,267,710 (GRCm39) |
P754S |
probably damaging |
Het |
| Ppp2r5c |
T |
A |
12: 110,512,057 (GRCm39) |
L145* |
probably null |
Het |
| Ppp2r5c |
T |
A |
12: 110,527,906 (GRCm39) |
|
probably benign |
Het |
| Pramel29 |
A |
C |
4: 143,935,162 (GRCm39) |
I193S |
probably damaging |
Het |
| Proser3 |
T |
C |
7: 30,239,446 (GRCm39) |
M553V |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Smurf2 |
A |
T |
11: 106,715,514 (GRCm39) |
D664E |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 93,887,391 (GRCm39) |
A99T |
probably benign |
Het |
| Stim1 |
T |
G |
7: 102,003,713 (GRCm39) |
C49G |
probably damaging |
Het |
| Stk32c |
T |
C |
7: 138,701,740 (GRCm39) |
I238V |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tfb2m |
T |
A |
1: 179,372,464 (GRCm39) |
E133V |
probably null |
Het |
| Tmem209 |
A |
T |
6: 30,497,867 (GRCm39) |
C143S |
probably benign |
Het |
| Tnr |
T |
G |
1: 159,679,600 (GRCm39) |
N191K |
probably benign |
Het |
| Vars1 |
C |
T |
17: 35,217,198 (GRCm39) |
A419T |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,767,041 (GRCm39) |
S819G |
probably benign |
Het |
| Wls |
T |
C |
3: 159,602,995 (GRCm39) |
V136A |
probably benign |
Het |
| Ybx2 |
C |
T |
11: 69,830,887 (GRCm39) |
S217L |
probably benign |
Het |
| Zfp82 |
T |
C |
7: 29,756,779 (GRCm39) |
D37G |
probably benign |
Het |
|
| Other mutations in Dcc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAGATGCTGAGATAGACCCTCCAC -3'
(R):5'- GAAGACATCTGACTTCCACGGTAAACC -3'
Sequencing Primer
(F):5'- TGAGATAGACCCTCCACGTAGAG -3'
(R):5'- GGTAAACCATCAATTCTATACCCTG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation