Incidental Mutation 'R9445:Dchs2'
| ID |
713861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dchs2
|
| Ensembl Gene |
ENSMUSG00000102692 |
| Gene Name |
dachsous cadherin related 2 |
| Synonyms |
LOC229459 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R9445 (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 83146284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 710
(D710G)
|
| 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: D710G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: D710G
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
99% (72/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024B05Rik |
T |
A |
14: 41,818,174 (GRCm39) |
H23Q |
possibly damaging |
Het |
| Abca14 |
T |
C |
7: 119,877,691 (GRCm39) |
S1069P |
probably benign |
Het |
| Abo |
A |
G |
2: 26,733,720 (GRCm39) |
W160R |
probably damaging |
Het |
| Adgrb1 |
A |
T |
15: 74,435,807 (GRCm39) |
|
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,745,978 (GRCm39) |
Q1624R |
|
Het |
| Amy2a1 |
T |
A |
3: 113,325,324 (GRCm39) |
N90I |
possibly damaging |
Het |
| Bod1l |
C |
T |
5: 41,974,619 (GRCm39) |
V2232I |
probably benign |
Het |
| Brsk2 |
T |
A |
7: 141,538,149 (GRCm39) |
H98Q |
probably damaging |
Het |
| Caskin2 |
C |
T |
11: 115,694,576 (GRCm39) |
V342I |
probably damaging |
Het |
| Ccdc13 |
T |
C |
9: 121,627,156 (GRCm39) |
N707S |
probably benign |
Het |
| Cdv3 |
T |
C |
9: 103,241,240 (GRCm39) |
E109G |
probably damaging |
Het |
| Coro2a |
C |
T |
4: 46,540,558 (GRCm39) |
E454K |
probably benign |
Het |
| Cpq |
A |
T |
15: 33,213,391 (GRCm39) |
I137F |
possibly damaging |
Het |
| Ctsj |
G |
A |
13: 61,151,838 (GRCm39) |
T73I |
possibly damaging |
Het |
| Drd4 |
T |
C |
7: 140,872,162 (GRCm39) |
V71A |
probably damaging |
Het |
| Eef2k |
T |
C |
7: 120,457,694 (GRCm39) |
C18R |
probably benign |
Het |
| Ercc4 |
C |
A |
16: 12,945,474 (GRCm39) |
D386E |
probably benign |
Het |
| F2rl2 |
A |
C |
13: 95,837,622 (GRCm39) |
L222F |
probably benign |
Het |
| Fkbp4 |
T |
C |
6: 128,413,580 (GRCm39) |
D68G |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,806,132 (GRCm39) |
D817V |
probably damaging |
Het |
| Gm19410 |
G |
A |
8: 36,239,652 (GRCm39) |
R116H |
possibly damaging |
Het |
| Gm9376 |
A |
T |
14: 118,504,502 (GRCm39) |
|
probably benign |
Het |
| Golim4 |
A |
T |
3: 75,813,775 (GRCm39) |
F150I |
probably damaging |
Het |
| Gtpbp2 |
G |
A |
17: 46,478,757 (GRCm39) |
V525M |
probably damaging |
Het |
| Hook1 |
A |
G |
4: 95,901,499 (GRCm39) |
N486D |
probably benign |
Het |
| Hook1 |
A |
G |
4: 95,903,049 (GRCm39) |
S513G |
probably benign |
Het |
| Hoxd9 |
A |
T |
2: 74,528,415 (GRCm39) |
T6S |
probably damaging |
Het |
| Hsd3b2 |
A |
T |
3: 98,619,051 (GRCm39) |
L298Q |
possibly damaging |
Het |
| Idh3b |
A |
C |
2: 130,123,572 (GRCm39) |
S172A |
probably benign |
Het |
| Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
| Ighv5-17 |
T |
A |
12: 113,822,858 (GRCm39) |
T88S |
possibly damaging |
Het |
| Il16 |
T |
A |
7: 83,337,380 (GRCm39) |
K112* |
probably null |
Het |
| Irag1 |
A |
T |
7: 110,545,161 (GRCm39) |
I45N |
possibly damaging |
Het |
| Kalrn |
T |
A |
16: 33,805,600 (GRCm39) |
I2646F |
probably benign |
Het |
| Kcnt1 |
G |
T |
2: 25,767,959 (GRCm39) |
G23C |
probably damaging |
Het |
| Kirrel2 |
T |
A |
7: 30,150,260 (GRCm39) |
I523F |
probably damaging |
Het |
| Lrrc3b |
A |
T |
14: 15,358,552 (GRCm38) |
L18H |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,862,214 (GRCm39) |
S386T |
probably benign |
Het |
| Mettl6 |
C |
T |
14: 31,209,527 (GRCm39) |
|
probably null |
Het |
| Mocs2 |
C |
T |
13: 114,961,879 (GRCm39) |
A120V |
possibly damaging |
Het |
| Mrpl39 |
T |
C |
16: 84,531,346 (GRCm39) |
T74A |
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,069,754 (GRCm39) |
F367L |
probably damaging |
Het |
| N4bp1 |
G |
A |
8: 87,587,238 (GRCm39) |
Q567* |
probably null |
Het |
| Naf1 |
A |
G |
8: 67,336,097 (GRCm39) |
I341M |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,250,063 (GRCm39) |
N1080K |
probably benign |
Het |
| Nell1 |
C |
A |
7: 49,632,474 (GRCm39) |
L36I |
possibly damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,522,448 (GRCm39) |
D446G |
probably damaging |
Het |
| Nrxn3 |
T |
A |
12: 89,499,737 (GRCm39) |
C709* |
probably null |
Het |
| Or13p4 |
T |
G |
4: 118,547,416 (GRCm39) |
T78P |
probably damaging |
Het |
| Or2ag17 |
A |
G |
7: 106,389,464 (GRCm39) |
V248A |
probably damaging |
Het |
| Or2n1 |
A |
C |
17: 38,486,694 (GRCm39) |
T240P |
probably damaging |
Het |
| Or2t26 |
C |
G |
11: 49,039,879 (GRCm39) |
A265G |
probably benign |
Het |
| Or8g19 |
T |
A |
9: 39,055,766 (GRCm39) |
Y123* |
probably null |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Pbx3 |
A |
G |
2: 34,114,555 (GRCm39) |
|
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 81,964,981 (GRCm39) |
S383P |
probably damaging |
Het |
| Pde6h |
T |
G |
6: 136,936,359 (GRCm39) |
F34C |
probably damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,720,628 (GRCm39) |
|
probably benign |
Het |
| Pramel21 |
T |
C |
4: 143,343,795 (GRCm39) |
L365P |
probably damaging |
Het |
| Prl8a9 |
C |
T |
13: 27,748,498 (GRCm39) |
|
probably null |
Het |
| Qdpr |
T |
C |
5: 45,596,669 (GRCm39) |
N165S |
probably benign |
Het |
| Rabl2 |
A |
G |
15: 89,468,148 (GRCm39) |
F158L |
probably damaging |
Het |
| Rrp7a |
G |
T |
15: 83,004,084 (GRCm39) |
C117* |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,787,463 (GRCm39) |
Y970C |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,552,774 (GRCm39) |
T503A |
possibly damaging |
Het |
| Sipa1 |
T |
C |
19: 5,704,198 (GRCm39) |
E708G |
probably damaging |
Het |
| Skor2 |
T |
A |
18: 76,948,811 (GRCm39) |
S844R |
possibly damaging |
Het |
| Slc6a7 |
C |
T |
18: 61,138,815 (GRCm39) |
C231Y |
probably damaging |
Het |
| Smgc |
A |
T |
15: 91,729,665 (GRCm39) |
E206D |
probably benign |
Het |
| Tanc2 |
T |
C |
11: 105,758,290 (GRCm39) |
S684P |
possibly damaging |
Het |
| Tep1 |
T |
C |
14: 51,082,967 (GRCm39) |
T1014A |
possibly damaging |
Het |
| Tex19.1 |
A |
G |
11: 121,038,283 (GRCm39) |
S214G |
probably benign |
Het |
| Trmt6 |
G |
A |
2: 132,650,774 (GRCm39) |
S278L |
probably benign |
Het |
| Use1 |
T |
C |
8: 71,821,200 (GRCm39) |
S156P |
probably benign |
Het |
| Znrf1 |
G |
A |
8: 112,335,954 (GRCm39) |
V152M |
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 |
|
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 |
|
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'- TCTGAGCAACCTTGGGATCC -3'
(R):5'- ATAGCACTTGGTATTAGAGGGAGTG -3'
Sequencing Primer
(F):5'- GGCTGTGCAAAGCATCATGATTC -3'
(R):5'- TGGTGGGGAGGTGAAACGTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation