Incidental Mutation 'R8973:Dchs2'
| ID |
683226 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dchs2
|
| Ensembl Gene |
ENSMUSG00000102692 |
| Gene Name |
dachsous cadherin related 2 |
| Synonyms |
LOC229459 |
| MMRRC Submission |
068807-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R8973 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
83035255-83264516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83261763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 2677
(E2677G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000191829]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191829
AA Change: E2677G
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: E2677G
| 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 |
0.0971 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (77/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
A |
T |
13: 70,886,959 (GRCm39) |
I975N |
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,570,984 (GRCm39) |
*1250Q |
probably null |
Het |
| Anapc1 |
A |
T |
2: 128,505,952 (GRCm39) |
I628N |
probably damaging |
Het |
| Ankrd39 |
C |
T |
1: 36,578,439 (GRCm39) |
|
probably benign |
Het |
| Ankub1 |
A |
T |
3: 57,572,932 (GRCm39) |
S263R |
possibly damaging |
Het |
| Aoah |
A |
G |
13: 21,024,325 (GRCm39) |
I94V |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,329,113 (GRCm39) |
D186G |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,855,668 (GRCm39) |
C589* |
probably null |
Het |
| Armt1 |
T |
C |
10: 4,389,550 (GRCm39) |
L69P |
probably damaging |
Het |
| Atxn7l3 |
T |
A |
11: 102,183,598 (GRCm39) |
Y185F |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,218,142 (GRCm39) |
D159G |
probably damaging |
Het |
| Camta2 |
C |
A |
11: 70,561,184 (GRCm39) |
R1184L |
probably benign |
Het |
| Ccdc192 |
T |
G |
18: 57,725,139 (GRCm39) |
L123V |
possibly damaging |
Het |
| Ccr7 |
G |
A |
11: 99,036,649 (GRCm39) |
T91I |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,831,131 (GRCm39) |
T323A |
possibly damaging |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Clec2e |
C |
A |
6: 129,070,374 (GRCm39) |
G216* |
probably null |
Het |
| Col25a1 |
T |
C |
3: 130,269,275 (GRCm39) |
S176P |
unknown |
Het |
| Col4a3 |
A |
C |
1: 82,693,052 (GRCm39) |
I1446L |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,233,277 (GRCm39) |
W1201R |
probably damaging |
Het |
| Cse1l |
A |
G |
2: 166,785,000 (GRCm39) |
E823G |
probably damaging |
Het |
| Cspg4b |
A |
G |
13: 113,456,293 (GRCm39) |
T780A |
|
Het |
| Dis3l |
T |
C |
9: 64,246,824 (GRCm39) |
E77G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,121,734 (GRCm39) |
D1416G |
probably benign |
Het |
| Dpyd |
T |
C |
3: 119,108,582 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,267,936 (GRCm39) |
D3112G |
probably damaging |
Het |
| Dusp13b |
A |
C |
14: 21,784,974 (GRCm39) |
N128K |
probably benign |
Het |
| Emilin2 |
T |
G |
17: 71,582,079 (GRCm39) |
K216Q |
probably benign |
Het |
| Enam |
T |
C |
5: 88,641,947 (GRCm39) |
W254R |
possibly damaging |
Het |
| Esrrg |
A |
C |
1: 187,930,947 (GRCm39) |
N346T |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,286,928 (GRCm39) |
G244R |
probably damaging |
Het |
| Fbxw25 |
A |
G |
9: 109,479,132 (GRCm39) |
L373P |
|
Het |
| Gm21060 |
C |
A |
19: 61,285,366 (GRCm39) |
V48L |
possibly damaging |
Het |
| Gtpbp3 |
T |
C |
8: 71,943,806 (GRCm39) |
V254A |
possibly damaging |
Het |
| H2-DMb2 |
A |
G |
17: 34,367,699 (GRCm39) |
D171G |
probably damaging |
Het |
| Hrg |
A |
T |
16: 22,777,968 (GRCm39) |
T242S |
probably benign |
Het |
| Inf2 |
G |
T |
12: 112,573,949 (GRCm39) |
C751F |
unknown |
Het |
| Krt13 |
A |
T |
11: 100,010,264 (GRCm39) |
M239K |
possibly damaging |
Het |
| Lrrc72 |
A |
G |
12: 36,303,293 (GRCm39) |
S7P |
probably benign |
Het |
| Matn2 |
A |
G |
15: 34,433,196 (GRCm39) |
I867V |
probably benign |
Het |
| Mdh2 |
C |
T |
5: 135,819,019 (GRCm39) |
A325V |
possibly damaging |
Het |
| Mki67 |
C |
A |
7: 135,297,364 (GRCm39) |
A2557S |
possibly damaging |
Het |
| Mrpl16 |
A |
T |
19: 11,750,307 (GRCm39) |
R64* |
probably null |
Het |
| Nav1 |
T |
C |
1: 135,512,463 (GRCm39) |
D199G |
probably benign |
Het |
| Nbn |
T |
C |
4: 15,986,585 (GRCm39) |
V662A |
probably damaging |
Het |
| Nek10 |
G |
A |
14: 14,931,321 (GRCm38) |
|
probably null |
Het |
| Or14a257 |
A |
G |
7: 86,138,487 (GRCm39) |
S91P |
probably damaging |
Het |
| Or5t18 |
C |
A |
2: 86,637,200 (GRCm39) |
V48F |
probably benign |
Het |
| Or7g12 |
C |
A |
9: 18,899,974 (GRCm39) |
S230* |
probably null |
Het |
| Or8b37 |
T |
A |
9: 37,958,839 (GRCm39) |
V107D |
possibly damaging |
Het |
| Pcsk7 |
T |
G |
9: 45,838,940 (GRCm39) |
S617R |
probably benign |
Het |
| Pde10a |
C |
A |
17: 9,143,071 (GRCm39) |
Q6K |
probably benign |
Het |
| Pigq |
A |
C |
17: 26,151,141 (GRCm39) |
M396R |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,449,833 (GRCm39) |
D3865E |
probably damaging |
Het |
| Prag1 |
C |
T |
8: 36,566,744 (GRCm39) |
|
probably benign |
Het |
| Rbis |
C |
T |
3: 14,672,305 (GRCm39) |
V97I |
probably benign |
Het |
| Rint1 |
A |
G |
5: 24,016,728 (GRCm39) |
T498A |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,352,756 (GRCm39) |
F3921I |
|
Het |
| Rpp14 |
A |
G |
14: 8,088,768 (GRCm38) |
S95G |
probably benign |
Het |
| Ryk |
T |
G |
9: 102,739,120 (GRCm39) |
Y78D |
possibly damaging |
Het |
| Sez6 |
A |
T |
11: 77,865,397 (GRCm39) |
Q678L |
probably damaging |
Het |
| Slc22a21 |
T |
C |
11: 53,860,402 (GRCm39) |
K141E |
probably damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,943,202 (GRCm39) |
I609K |
probably damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,140,538 (GRCm39) |
F244L |
probably damaging |
Het |
| Spata31e1 |
A |
T |
13: 49,941,715 (GRCm39) |
D80E |
probably benign |
Het |
| Susd5 |
T |
C |
9: 113,911,572 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Syne3 |
A |
G |
12: 104,925,654 (GRCm39) |
|
probably null |
Het |
| Tbcd |
G |
C |
11: 121,387,679 (GRCm39) |
|
probably benign |
Het |
| Tektip1 |
T |
C |
10: 81,199,849 (GRCm39) |
D129G |
unknown |
Het |
| Tmc1 |
A |
T |
19: 20,878,215 (GRCm39) |
N93K |
probably benign |
Het |
| Tmem100 |
T |
A |
11: 89,926,302 (GRCm39) |
M43K |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,836,039 (GRCm39) |
V690D |
probably damaging |
Het |
| Trim8 |
A |
G |
19: 46,503,903 (GRCm39) |
Q485R |
possibly damaging |
Het |
| Vmn2r63 |
A |
T |
7: 42,577,919 (GRCm39) |
H206Q |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,452,150 (GRCm39) |
N443K |
possibly damaging |
Het |
| Zan |
T |
A |
5: 137,387,578 (GRCm39) |
I4878F |
unknown |
Het |
| Zfand4 |
A |
G |
6: 116,291,041 (GRCm39) |
D344G |
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 |
|
|
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 |
|
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 |
|
|
|
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'- ATTCTTGCGTCTGACCACGG -3'
(R):5'- AAACTGAGGTGAGTGGTCATTG -3'
Sequencing Primer
(F):5'- GGCTGCCCTCCACTGAGTTC -3'
(R):5'- GTGGTCATTGTCATCTAACACACTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation