Incidental Mutation 'R7487:Dchs2'
ID |
580230 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dchs2
|
Ensembl Gene |
ENSMUSG00000102692 |
Gene Name |
dachsous cadherin related 2 |
Synonyms |
LOC229459 |
MMRRC Submission |
045561-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.384)
|
Stock # |
R7487 (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 C
at 83263613 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 3294
(S3294P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141425
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000191829]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000191829
AA Change: S3294P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141425 Gene: ENSMUSG00000102692 AA Change: S3294P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (89/89) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
T |
3: 137,772,629 (GRCm39) |
D606V |
probably damaging |
Het |
1700009N14Rik |
T |
A |
4: 39,450,929 (GRCm39) |
V45E |
probably damaging |
Het |
2510009E07Rik |
C |
T |
16: 21,472,479 (GRCm39) |
V74M |
probably damaging |
Het |
Abca2 |
C |
T |
2: 25,327,915 (GRCm39) |
T739M |
probably benign |
Het |
Abra |
T |
C |
15: 41,732,949 (GRCm39) |
E39G |
probably damaging |
Het |
Adam34 |
A |
T |
8: 44,104,191 (GRCm39) |
C485S |
probably damaging |
Het |
Add2 |
G |
T |
6: 86,070,432 (GRCm39) |
V175F |
possibly damaging |
Het |
Alk |
T |
A |
17: 72,256,893 (GRCm39) |
K655N |
probably benign |
Het |
Ap3m1 |
A |
G |
14: 21,088,107 (GRCm39) |
V317A |
probably benign |
Het |
Astn1 |
A |
G |
1: 158,438,352 (GRCm39) |
|
probably null |
Het |
Atm |
A |
T |
9: 53,435,654 (GRCm39) |
Y219N |
probably benign |
Het |
Cep128 |
C |
T |
12: 90,966,404 (GRCm39) |
A1068T |
probably benign |
Het |
Cep20 |
T |
C |
16: 14,128,968 (GRCm39) |
D85G |
probably benign |
Het |
Cnksr3 |
T |
C |
10: 7,085,097 (GRCm39) |
Q250R |
probably benign |
Het |
Cst7 |
A |
G |
2: 150,419,624 (GRCm39) |
T97A |
probably benign |
Het |
Ctps1 |
G |
A |
4: 120,415,997 (GRCm39) |
L209F |
probably damaging |
Het |
Cyp2d10 |
A |
T |
15: 82,288,793 (GRCm39) |
F230I |
probably benign |
Het |
Daam2 |
T |
C |
17: 49,793,510 (GRCm39) |
N336D |
probably benign |
Het |
Dhx36 |
G |
T |
3: 62,391,623 (GRCm39) |
N574K |
possibly damaging |
Het |
Dock10 |
G |
T |
1: 80,562,765 (GRCm39) |
Q533K |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,132,041 (GRCm39) |
S1589P |
probably benign |
Het |
Enpp3 |
T |
A |
10: 24,681,821 (GRCm39) |
Y295F |
probably benign |
Het |
Esrrg |
T |
A |
1: 187,878,620 (GRCm39) |
Y234N |
probably benign |
Het |
Fadd |
A |
C |
7: 144,134,462 (GRCm39) |
V141G |
probably damaging |
Het |
Fam114a2 |
C |
T |
11: 57,404,515 (GRCm39) |
G83D |
probably damaging |
Het |
Fam170b |
T |
A |
14: 32,557,776 (GRCm39) |
C204S |
probably damaging |
Het |
Fam186a |
T |
A |
15: 99,840,017 (GRCm39) |
I2076F |
possibly damaging |
Het |
Fdxacb1 |
G |
A |
9: 50,681,519 (GRCm39) |
V147I |
possibly damaging |
Het |
Frem2 |
C |
A |
3: 53,561,970 (GRCm39) |
V846F |
probably benign |
Het |
Fry |
G |
A |
5: 150,338,039 (GRCm39) |
S1449N |
possibly damaging |
Het |
Gucy1b2 |
A |
G |
14: 62,685,672 (GRCm39) |
F98L |
probably damaging |
Het |
Hps1 |
T |
C |
19: 42,744,700 (GRCm39) |
Y658C |
probably damaging |
Het |
Igkv3-9 |
T |
A |
6: 70,565,506 (GRCm39) |
L35Q |
probably damaging |
Het |
Irx2 |
A |
G |
13: 72,778,739 (GRCm39) |
Y101C |
probably damaging |
Het |
Kcnj11 |
G |
T |
7: 45,748,265 (GRCm39) |
R353S |
probably benign |
Het |
Kyat3 |
C |
T |
3: 142,431,955 (GRCm39) |
Q228* |
probably null |
Het |
Lama3 |
T |
A |
18: 12,552,294 (GRCm39) |
D415E |
probably benign |
Het |
Lcn3 |
G |
A |
2: 25,656,174 (GRCm39) |
|
probably null |
Het |
Lin7b |
T |
C |
7: 45,019,364 (GRCm39) |
E68G |
possibly damaging |
Het |
Lmbr1 |
T |
A |
5: 29,459,262 (GRCm39) |
K379M |
probably benign |
Het |
Lrig1 |
A |
G |
6: 94,583,099 (GRCm39) |
S1006P |
probably benign |
Het |
Lrrc37a |
T |
G |
11: 103,389,045 (GRCm39) |
T2127P |
unknown |
Het |
Map4 |
A |
G |
9: 109,856,783 (GRCm39) |
D151G |
probably damaging |
Het |
Marchf1 |
A |
T |
8: 66,908,726 (GRCm39) |
T149S |
probably benign |
Het |
Msh4 |
A |
T |
3: 153,569,147 (GRCm39) |
F809I |
probably damaging |
Het |
Muc16 |
G |
A |
9: 18,496,095 (GRCm39) |
P6699S |
possibly damaging |
Het |
Mxi1 |
A |
T |
19: 53,360,088 (GRCm39) |
D270V |
probably damaging |
Het |
Myh6 |
A |
T |
14: 55,190,953 (GRCm39) |
C907* |
probably null |
Het |
Myo18b |
T |
C |
5: 112,982,299 (GRCm39) |
R1145G |
possibly damaging |
Het |
Nkx2-6 |
A |
C |
14: 69,409,389 (GRCm39) |
N47H |
probably benign |
Het |
Nol7 |
G |
A |
13: 43,552,076 (GRCm39) |
A66T |
probably damaging |
Het |
Ntrk3 |
T |
C |
7: 77,900,461 (GRCm39) |
N626S |
probably damaging |
Het |
Nwd1 |
A |
G |
8: 73,393,266 (GRCm39) |
Y77C |
unknown |
Het |
Or12d17 |
G |
T |
17: 37,777,457 (GRCm39) |
R120L |
probably damaging |
Het |
Or12k5 |
A |
C |
2: 36,894,786 (GRCm39) |
V280G |
probably damaging |
Het |
Or8c14-ps1 |
A |
G |
9: 38,101,356 (GRCm39) |
S112G |
probably damaging |
Het |
Or8j3b |
A |
T |
2: 86,205,475 (GRCm39) |
Y94N |
probably damaging |
Het |
Or9s23 |
G |
A |
1: 92,501,517 (GRCm39) |
G208D |
possibly damaging |
Het |
Otop3 |
A |
G |
11: 115,235,826 (GRCm39) |
D486G |
probably benign |
Het |
Pak1ip1 |
A |
G |
13: 41,162,731 (GRCm39) |
K178R |
probably benign |
Het |
Pcsk1 |
G |
A |
13: 75,259,002 (GRCm39) |
G259S |
probably benign |
Het |
Pde6a |
A |
G |
18: 61,383,031 (GRCm39) |
D338G |
probably damaging |
Het |
Pias4 |
A |
T |
10: 80,999,806 (GRCm39) |
D82E |
probably benign |
Het |
Plekha5 |
C |
A |
6: 140,516,059 (GRCm39) |
Q771K |
probably benign |
Het |
Plekhh3 |
C |
A |
11: 101,056,405 (GRCm39) |
A397S |
possibly damaging |
Het |
Prg4 |
G |
T |
1: 150,331,656 (GRCm39) |
T339N |
unknown |
Het |
Prss22 |
A |
T |
17: 24,216,971 (GRCm39) |
I3N |
probably damaging |
Het |
Rasgrp1 |
T |
C |
2: 117,118,424 (GRCm39) |
I522V |
probably damaging |
Het |
Rspo2 |
T |
C |
15: 42,941,510 (GRCm39) |
T138A |
probably benign |
Het |
Rtcb |
C |
T |
10: 85,789,333 (GRCm39) |
G70S |
probably benign |
Het |
Selenov |
A |
T |
7: 27,989,803 (GRCm39) |
S234T |
probably damaging |
Het |
Shtn1 |
T |
C |
19: 58,992,292 (GRCm39) |
T429A |
probably damaging |
Het |
Slc4a3 |
G |
T |
1: 75,530,021 (GRCm39) |
R622L |
probably benign |
Het |
Smc2 |
T |
C |
4: 52,478,448 (GRCm39) |
I1015T |
probably damaging |
Het |
Spata9 |
G |
T |
13: 76,115,959 (GRCm39) |
V3F |
possibly damaging |
Het |
Tlr4 |
T |
C |
4: 66,842,659 (GRCm39) |
I105T |
probably benign |
Het |
Trav6d-4 |
A |
T |
14: 52,991,096 (GRCm39) |
Y47F |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,657,377 (GRCm39) |
I12450N |
unknown |
Het |
Umad1 |
G |
T |
6: 8,270,560 (GRCm39) |
A21S |
probably damaging |
Het |
Unc5a |
G |
A |
13: 55,144,362 (GRCm39) |
R229H |
probably benign |
Het |
Vmn1r216 |
A |
T |
13: 23,284,030 (GRCm39) |
M238L |
probably damaging |
Het |
Vps16 |
T |
A |
2: 130,280,977 (GRCm39) |
C255* |
probably null |
Het |
Wdr89 |
A |
G |
12: 75,679,388 (GRCm39) |
F289L |
probably benign |
Het |
Zfp180 |
A |
T |
7: 23,805,525 (GRCm39) |
H648L |
probably damaging |
Het |
Zfp735 |
A |
G |
11: 73,581,154 (GRCm39) |
K64E |
possibly damaging |
Het |
Zfp990 |
G |
A |
4: 145,264,157 (GRCm39) |
C385Y |
probably damaging |
Het |
Zswim3 |
G |
T |
2: 164,662,135 (GRCm39) |
S205I |
probably damaging |
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 |
|
R7252:Dchs2
|
UTSW |
3 |
83,232,610 (GRCm39) |
missense |
probably benign |
0.04 |
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 |
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'- GTTCCAGCATCTTGCCTCAG -3'
(R):5'- GAGTCAGCATCAGGTCTATCC -3'
Sequencing Primer
(F):5'- GCCTCAGTGTTTAATGATATTGCCAG -3'
(R):5'- AGTCAGCATCAGGTCTATCCTTGAAC -3'
|
Posted On |
2019-10-07 |