Incidental Mutation 'R7252:Dchs2'
ID |
563976 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dchs2
|
Ensembl Gene |
ENSMUSG00000102692 |
Gene Name |
dachsous cadherin related 2 |
Synonyms |
LOC229459 |
MMRRC Submission |
045385-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.384)
|
Stock # |
R7252 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
83035255-83264516 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 83232610 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 2198
(N2198K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141425
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000191829]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000191829
AA Change: N2198K
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000141425 Gene: ENSMUSG00000102692 AA Change: N2198K
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
30 |
N/A |
INTRINSIC |
CA
|
70 |
149 |
1.6e-8 |
SMART |
CA
|
173 |
278 |
1.9e-9 |
SMART |
CA
|
302 |
395 |
2e-33 |
SMART |
CA
|
423 |
522 |
3.2e-7 |
SMART |
CA
|
546 |
642 |
1.1e-29 |
SMART |
CA
|
666 |
750 |
5.6e-22 |
SMART |
CA
|
774 |
855 |
1.5e-8 |
SMART |
CA
|
876 |
958 |
4.2e-19 |
SMART |
CA
|
982 |
1060 |
3e-8 |
SMART |
CA
|
1067 |
1168 |
9.3e-7 |
SMART |
CA
|
1192 |
1271 |
1.1e-28 |
SMART |
CA
|
1299 |
1379 |
4e-16 |
SMART |
CA
|
1403 |
1486 |
6.1e-16 |
SMART |
CA
|
1510 |
1596 |
3.5e-18 |
SMART |
CA
|
1619 |
1700 |
4.4e-27 |
SMART |
CA
|
1724 |
1805 |
6.4e-27 |
SMART |
CA
|
1828 |
1909 |
4.3e-29 |
SMART |
CA
|
1933 |
2014 |
3.4e-27 |
SMART |
CA
|
2038 |
2116 |
4.2e-7 |
SMART |
CA
|
2139 |
2218 |
2.5e-15 |
SMART |
CA
|
2242 |
2323 |
2.1e-34 |
SMART |
CA
|
2346 |
2423 |
3e-24 |
SMART |
CA
|
2447 |
2525 |
2e-17 |
SMART |
CA
|
2549 |
2641 |
9.8e-16 |
SMART |
CA
|
2665 |
2745 |
2.3e-24 |
SMART |
CA
|
2769 |
2856 |
5.9e-19 |
SMART |
CA
|
2880 |
2959 |
1e-3 |
SMART |
transmembrane domain
|
2973 |
2995 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
99% (81/82) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930480E11Rik |
G |
T |
X: 77,414,311 (GRCm39) |
M345I |
probably benign |
Het |
Abcc2 |
T |
A |
19: 43,816,388 (GRCm39) |
I1226N |
probably damaging |
Het |
Adarb2 |
A |
G |
13: 8,620,216 (GRCm39) |
E234G |
probably benign |
Het |
Ankrd52 |
T |
C |
10: 128,217,865 (GRCm39) |
S282P |
probably damaging |
Het |
Arhgef12 |
A |
T |
9: 42,927,205 (GRCm39) |
S306R |
probably benign |
Het |
Baiap2 |
G |
T |
11: 119,893,865 (GRCm39) |
A514S |
probably benign |
Het |
BC030500 |
T |
A |
8: 59,364,838 (GRCm39) |
|
probably null |
Het |
C1qtnf12 |
T |
A |
4: 156,047,072 (GRCm39) |
W13R |
unknown |
Het |
Ccdc158 |
A |
G |
5: 92,798,647 (GRCm39) |
V351A |
probably benign |
Het |
Cct8 |
T |
C |
16: 87,281,807 (GRCm39) |
E485G |
probably benign |
Het |
Cep85 |
T |
C |
4: 133,875,342 (GRCm39) |
D542G |
probably benign |
Het |
Clhc1 |
T |
A |
11: 29,513,937 (GRCm39) |
S340R |
probably benign |
Het |
Cnot4 |
A |
T |
6: 35,046,362 (GRCm39) |
D168E |
probably damaging |
Het |
Cntn5 |
G |
A |
9: 9,831,640 (GRCm39) |
T375I |
probably benign |
Het |
Ctc1 |
T |
A |
11: 68,917,000 (GRCm39) |
I298N |
probably damaging |
Het |
Ddx6 |
G |
A |
9: 44,535,050 (GRCm39) |
|
probably null |
Het |
Defb11 |
A |
G |
8: 22,395,473 (GRCm39) |
I68T |
probably benign |
Het |
Dip2a |
C |
T |
10: 76,109,036 (GRCm39) |
V1212I |
not run |
Het |
Dop1a |
T |
A |
9: 86,382,874 (GRCm39) |
I269N |
probably damaging |
Het |
Efna3 |
C |
T |
3: 89,223,971 (GRCm39) |
G73S |
possibly damaging |
Het |
Fam98b |
C |
G |
2: 117,094,373 (GRCm39) |
R228G |
probably damaging |
Het |
Fancd2 |
A |
T |
6: 113,533,246 (GRCm39) |
N521I |
probably damaging |
Het |
Farsa |
A |
G |
8: 85,587,957 (GRCm39) |
D134G |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,202,088 (GRCm39) |
F329I |
probably damaging |
Het |
Gm14399 |
A |
T |
2: 174,974,991 (GRCm39) |
I43K |
probably damaging |
Het |
Gpr15 |
A |
G |
16: 58,538,760 (GRCm39) |
S110P |
probably damaging |
Het |
Gpr157 |
T |
C |
4: 150,183,331 (GRCm39) |
V167A |
probably benign |
Het |
Hacd4 |
A |
G |
4: 88,345,000 (GRCm39) |
I134T |
possibly damaging |
Het |
Hpgd |
T |
A |
8: 56,751,461 (GRCm39) |
N96K |
probably damaging |
Het |
Insm2 |
A |
T |
12: 55,647,305 (GRCm39) |
T350S |
probably benign |
Het |
Iqch |
C |
T |
9: 63,419,518 (GRCm39) |
|
probably null |
Het |
Kmt2d |
A |
G |
15: 98,742,147 (GRCm39) |
S4338P |
unknown |
Het |
Krtap9-3 |
A |
G |
11: 99,488,796 (GRCm39) |
S29P |
probably benign |
Het |
Kyat3 |
T |
A |
3: 142,426,219 (GRCm39) |
S87T |
probably benign |
Het |
Minar2 |
A |
G |
18: 59,199,980 (GRCm39) |
|
probably null |
Het |
Mrpl46 |
T |
C |
7: 78,430,336 (GRCm39) |
T145A |
probably benign |
Het |
Neb |
A |
G |
2: 52,214,973 (GRCm39) |
|
probably null |
Het |
Or2aj5 |
A |
T |
16: 19,425,249 (GRCm39) |
H55Q |
probably damaging |
Het |
Or4c124 |
T |
A |
2: 89,156,629 (GRCm39) |
|
probably benign |
Het |
Or6x1 |
C |
T |
9: 40,098,657 (GRCm39) |
T82I |
probably benign |
Het |
Or7g17 |
A |
G |
9: 18,768,548 (GRCm39) |
Y200C |
probably damaging |
Het |
Or9a7 |
A |
G |
6: 40,521,703 (GRCm39) |
I70T |
probably benign |
Het |
Otogl |
T |
C |
10: 107,657,804 (GRCm39) |
D1042G |
probably benign |
Het |
Paxip1 |
C |
T |
5: 27,965,084 (GRCm39) |
V659I |
probably damaging |
Het |
Pfkl |
A |
G |
10: 77,829,263 (GRCm39) |
W382R |
probably damaging |
Het |
Pfn1 |
A |
G |
11: 70,545,297 (GRCm39) |
W4R |
probably damaging |
Het |
Pik3c2b |
G |
A |
1: 133,022,472 (GRCm39) |
R1138H |
probably benign |
Het |
Pkd1l3 |
A |
G |
8: 110,387,330 (GRCm39) |
D1758G |
probably benign |
Het |
Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
Pramel29 |
T |
C |
4: 143,939,510 (GRCm39) |
D9G |
possibly damaging |
Het |
Prdm12 |
A |
G |
2: 31,532,386 (GRCm39) |
N132S |
possibly damaging |
Het |
Prokr2 |
T |
A |
2: 132,223,360 (GRCm39) |
M61L |
probably benign |
Het |
Ralgapa2 |
T |
C |
2: 146,184,671 (GRCm39) |
|
probably null |
Het |
Ralgps1 |
A |
T |
2: 33,058,200 (GRCm39) |
D301E |
probably benign |
Het |
Rcbtb2 |
T |
C |
14: 73,404,220 (GRCm39) |
Y231H |
probably damaging |
Het |
Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
Relb |
C |
A |
7: 19,346,538 (GRCm39) |
E345* |
probably null |
Het |
Rhbdl3 |
A |
C |
11: 80,228,411 (GRCm39) |
M294L |
possibly damaging |
Het |
Rpl24 |
G |
A |
16: 55,790,479 (GRCm39) |
A112T |
possibly damaging |
Het |
Rsbn1l |
C |
T |
5: 21,113,196 (GRCm39) |
R442Q |
probably damaging |
Het |
Rxfp3 |
A |
T |
15: 11,036,025 (GRCm39) |
I449N |
probably benign |
Het |
Sema4c |
A |
C |
1: 36,589,096 (GRCm39) |
C677G |
probably damaging |
Het |
Sf3b3 |
A |
C |
8: 111,566,562 (GRCm39) |
I256S |
probably damaging |
Het |
Shank1 |
C |
T |
7: 43,976,585 (GRCm39) |
A561V |
unknown |
Het |
Slc39a6 |
G |
T |
18: 24,734,442 (GRCm39) |
N82K |
possibly damaging |
Het |
Slc3a2 |
T |
C |
19: 8,700,521 (GRCm39) |
|
probably benign |
Het |
Stard13 |
T |
C |
5: 150,986,634 (GRCm39) |
Q292R |
probably benign |
Het |
Tgm6 |
A |
G |
2: 129,986,884 (GRCm39) |
R451G |
probably damaging |
Het |
Tspo |
G |
T |
15: 83,456,466 (GRCm39) |
G83V |
probably damaging |
Het |
Ubxn10 |
T |
C |
4: 138,448,187 (GRCm39) |
Q163R |
probably benign |
Het |
Ushbp1 |
A |
G |
8: 71,847,246 (GRCm39) |
S129P |
probably benign |
Het |
Vmn2r23 |
T |
A |
6: 123,718,540 (GRCm39) |
V631D |
probably damaging |
Het |
Vmn2r24 |
T |
C |
6: 123,764,191 (GRCm39) |
I356T |
possibly damaging |
Het |
Vmn2r84 |
C |
T |
10: 130,222,279 (GRCm39) |
C647Y |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,638,428 (GRCm39) |
E2356G |
probably benign |
Het |
Wdr64 |
A |
G |
1: 175,603,240 (GRCm39) |
T614A |
probably benign |
Het |
Zdhhc16 |
G |
T |
19: 41,929,990 (GRCm39) |
W271L |
probably damaging |
Het |
Zer1 |
A |
C |
2: 29,991,904 (GRCm39) |
S652A |
probably damaging |
Het |
Zfp287 |
A |
G |
11: 62,615,655 (GRCm39) |
V224A |
probably damaging |
Het |
Zfp438 |
A |
T |
18: 5,214,874 (GRCm39) |
L28* |
probably null |
Het |
Zfp830 |
G |
A |
11: 82,655,534 (GRCm39) |
A113T |
probably benign |
Het |
Zfp865 |
G |
T |
7: 5,037,416 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Dchs2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1707:Dchs2
|
UTSW |
3 |
83,034,912 (GRCm39) |
unclassified |
probably benign |
|
R5857:Dchs2
|
UTSW |
3 |
83,177,620 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5897:Dchs2
|
UTSW |
3 |
83,192,717 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5959:Dchs2
|
UTSW |
3 |
83,232,725 (GRCm39) |
missense |
probably benign |
0.01 |
R6007:Dchs2
|
UTSW |
3 |
83,253,534 (GRCm39) |
missense |
probably damaging |
0.99 |
R6054:Dchs2
|
UTSW |
3 |
83,253,543 (GRCm39) |
missense |
probably benign |
0.00 |
R6059:Dchs2
|
UTSW |
3 |
83,263,043 (GRCm39) |
missense |
probably benign |
0.06 |
R6075:Dchs2
|
UTSW |
3 |
83,262,368 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6379:Dchs2
|
UTSW |
3 |
83,262,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R6393:Dchs2
|
UTSW |
3 |
83,037,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R6405:Dchs2
|
UTSW |
3 |
83,261,570 (GRCm39) |
missense |
probably benign |
0.01 |
R6432:Dchs2
|
UTSW |
3 |
83,178,425 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6434:Dchs2
|
UTSW |
3 |
83,176,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R6561:Dchs2
|
UTSW |
3 |
83,036,476 (GRCm39) |
missense |
probably benign |
0.04 |
R6798:Dchs2
|
UTSW |
3 |
83,255,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R6801:Dchs2
|
UTSW |
3 |
83,035,841 (GRCm39) |
missense |
probably benign |
0.00 |
R6855:Dchs2
|
UTSW |
3 |
83,255,501 (GRCm39) |
missense |
probably benign |
0.08 |
R6956:Dchs2
|
UTSW |
3 |
83,261,233 (GRCm39) |
missense |
probably benign |
0.00 |
R7090:Dchs2
|
UTSW |
3 |
83,255,581 (GRCm39) |
missense |
probably benign |
0.03 |
R7249:Dchs2
|
UTSW |
3 |
83,035,336 (GRCm39) |
nonsense |
probably null |
|
R7462:Dchs2
|
UTSW |
3 |
83,253,462 (GRCm39) |
splice site |
probably null |
|
R7482:Dchs2
|
UTSW |
3 |
83,156,032 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7487:Dchs2
|
UTSW |
3 |
83,263,613 (GRCm39) |
missense |
probably damaging |
0.99 |
R7529:Dchs2
|
UTSW |
3 |
83,261,705 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7542:Dchs2
|
UTSW |
3 |
83,176,591 (GRCm39) |
missense |
probably benign |
0.16 |
R7544:Dchs2
|
UTSW |
3 |
83,262,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R7547:Dchs2
|
UTSW |
3 |
83,263,434 (GRCm39) |
missense |
probably damaging |
0.96 |
R7587:Dchs2
|
UTSW |
3 |
83,211,822 (GRCm39) |
missense |
probably benign |
|
R7632:Dchs2
|
UTSW |
3 |
83,255,357 (GRCm39) |
missense |
probably benign |
0.00 |
R7694:Dchs2
|
UTSW |
3 |
83,036,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R7701:Dchs2
|
UTSW |
3 |
83,253,513 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7746:Dchs2
|
UTSW |
3 |
83,035,364 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7838:Dchs2
|
UTSW |
3 |
83,211,834 (GRCm39) |
missense |
probably benign |
0.01 |
R7886:Dchs2
|
UTSW |
3 |
83,212,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R8055:Dchs2
|
UTSW |
3 |
83,037,032 (GRCm39) |
missense |
probably benign |
0.00 |
R8068:Dchs2
|
UTSW |
3 |
83,207,745 (GRCm39) |
missense |
probably benign |
0.12 |
R8094:Dchs2
|
UTSW |
3 |
83,262,929 (GRCm39) |
missense |
probably benign |
0.02 |
R8160:Dchs2
|
UTSW |
3 |
83,178,112 (GRCm39) |
missense |
probably benign |
0.19 |
R8166:Dchs2
|
UTSW |
3 |
83,261,640 (GRCm39) |
missense |
probably benign |
0.28 |
R8278:Dchs2
|
UTSW |
3 |
83,178,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R8422:Dchs2
|
UTSW |
3 |
83,232,570 (GRCm39) |
missense |
probably benign |
0.30 |
R8506:Dchs2
|
UTSW |
3 |
83,208,481 (GRCm39) |
missense |
probably benign |
0.17 |
R8517:Dchs2
|
UTSW |
3 |
83,178,419 (GRCm39) |
missense |
probably damaging |
0.96 |
R8528:Dchs2
|
UTSW |
3 |
83,261,918 (GRCm39) |
missense |
probably damaging |
0.96 |
R8693:Dchs2
|
UTSW |
3 |
83,192,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R8708:Dchs2
|
UTSW |
3 |
83,036,049 (GRCm39) |
missense |
probably benign |
0.00 |
R8757:Dchs2
|
UTSW |
3 |
83,261,567 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8768:Dchs2
|
UTSW |
3 |
83,253,592 (GRCm39) |
missense |
probably benign |
0.12 |
R8776:Dchs2
|
UTSW |
3 |
83,263,701 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8776-TAIL:Dchs2
|
UTSW |
3 |
83,263,701 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8802:Dchs2
|
UTSW |
3 |
83,253,544 (GRCm39) |
missense |
probably benign |
0.01 |
R8821:Dchs2
|
UTSW |
3 |
83,192,670 (GRCm39) |
missense |
probably benign |
0.00 |
R8831:Dchs2
|
UTSW |
3 |
83,192,670 (GRCm39) |
missense |
probably benign |
0.00 |
R8897:Dchs2
|
UTSW |
3 |
83,036,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R8957:Dchs2
|
UTSW |
3 |
83,189,573 (GRCm39) |
missense |
|
|
R8973:Dchs2
|
UTSW |
3 |
83,261,763 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8991:Dchs2
|
UTSW |
3 |
83,036,143 (GRCm39) |
missense |
probably benign |
0.00 |
R9015:Dchs2
|
UTSW |
3 |
83,188,751 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9051:Dchs2
|
UTSW |
3 |
83,261,493 (GRCm39) |
missense |
probably benign |
0.02 |
R9117:Dchs2
|
UTSW |
3 |
83,176,662 (GRCm39) |
missense |
probably benign |
0.31 |
R9120:Dchs2
|
UTSW |
3 |
83,187,535 (GRCm39) |
missense |
probably damaging |
0.99 |
R9189:Dchs2
|
UTSW |
3 |
83,255,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R9264:Dchs2
|
UTSW |
3 |
83,177,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R9280:Dchs2
|
UTSW |
3 |
83,189,255 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9293:Dchs2
|
UTSW |
3 |
83,189,361 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9322:Dchs2
|
UTSW |
3 |
83,189,001 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9345:Dchs2
|
UTSW |
3 |
83,036,101 (GRCm39) |
missense |
probably benign |
0.00 |
R9408:Dchs2
|
UTSW |
3 |
83,192,573 (GRCm39) |
missense |
probably benign |
0.02 |
R9432:Dchs2
|
UTSW |
3 |
83,036,032 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9445:Dchs2
|
UTSW |
3 |
83,146,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R9466:Dchs2
|
UTSW |
3 |
83,176,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R9612:Dchs2
|
UTSW |
3 |
83,178,193 (GRCm39) |
missense |
probably damaging |
0.97 |
R9622:Dchs2
|
UTSW |
3 |
83,263,766 (GRCm39) |
nonsense |
probably null |
|
R9679:Dchs2
|
UTSW |
3 |
83,261,697 (GRCm39) |
missense |
probably damaging |
0.99 |
R9722:Dchs2
|
UTSW |
3 |
83,261,301 (GRCm39) |
missense |
probably benign |
0.01 |
R9767:Dchs2
|
UTSW |
3 |
83,212,206 (GRCm39) |
missense |
probably benign |
0.01 |
RF012:Dchs2
|
UTSW |
3 |
83,262,375 (GRCm39) |
missense |
probably benign |
0.03 |
Z1177:Dchs2
|
UTSW |
3 |
83,178,447 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTACAAATGTTGGAAATCTGC -3'
(R):5'- TCCTAGGTGCTTTGACATACAG -3'
Sequencing Primer
(F):5'- GTTGGAAATCTGCAAATATCCACAAG -3'
(R):5'- GTGATTGACTGGTAACACACATGCAC -3'
|
Posted On |
2019-06-26 |