Incidental Mutation 'R9345:Dchs2'
ID |
707720 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dchs2
|
Ensembl Gene |
ENSMUSG00000102692 |
Gene Name |
dachsous cadherin related 2 |
Synonyms |
LOC229459 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.384)
|
Stock # |
R9345 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
83035255-83264516 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 83036101 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 283
(G283S)
|
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: G283S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000141425 Gene: ENSMUSG00000102692 AA Change: G283S
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
T |
19: 43,807,869 (GRCm39) |
I837F |
probably damaging |
Het |
Acot3 |
A |
G |
12: 84,103,866 (GRCm39) |
Y225C |
probably benign |
Het |
Adam17 |
A |
G |
12: 21,378,056 (GRCm39) |
V710A |
probably damaging |
Het |
Ank3 |
A |
G |
10: 69,761,899 (GRCm39) |
|
probably benign |
Het |
Ankrd60 |
T |
A |
2: 173,410,610 (GRCm39) |
K303N |
possibly damaging |
Het |
Atp10b |
T |
A |
11: 43,094,024 (GRCm39) |
S523T |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,971,588 (GRCm39) |
V973A |
possibly damaging |
Het |
Ccdc24 |
C |
T |
4: 117,729,691 (GRCm39) |
W9* |
probably null |
Het |
Ccdc82 |
A |
G |
9: 13,281,891 (GRCm39) |
T439A |
probably benign |
Het |
Ccne2 |
C |
A |
4: 11,199,420 (GRCm39) |
Q274K |
probably benign |
Het |
Clec11a |
T |
C |
7: 43,956,189 (GRCm39) |
M1V |
probably null |
Het |
Col12a1 |
T |
A |
9: 79,541,017 (GRCm39) |
Y2370F |
probably benign |
Het |
Cyp4a32 |
C |
T |
4: 115,467,699 (GRCm39) |
H228Y |
probably benign |
Het |
Dis3 |
T |
C |
14: 99,318,814 (GRCm39) |
T659A |
probably damaging |
Het |
Dock5 |
T |
C |
14: 68,060,071 (GRCm39) |
D456G |
possibly damaging |
Het |
Efr3b |
T |
A |
12: 4,033,409 (GRCm39) |
K249* |
probably null |
Het |
Emilin2 |
C |
T |
17: 71,581,539 (GRCm39) |
V396I |
probably benign |
Het |
Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
Fasn |
A |
T |
11: 120,706,735 (GRCm39) |
S947T |
probably benign |
Het |
Fryl |
C |
T |
5: 73,207,754 (GRCm39) |
C2472Y |
probably benign |
Het |
Gm3159 |
A |
T |
14: 4,398,488 (GRCm38) |
I60L |
probably benign |
Het |
Gm3402 |
A |
T |
5: 146,451,330 (GRCm39) |
N63Y |
probably damaging |
Het |
Gm49355 |
C |
T |
14: 12,296,641 (GRCm38) |
|
probably benign |
Het |
Grm2 |
A |
G |
9: 106,528,287 (GRCm39) |
L199P |
probably damaging |
Het |
Hck |
T |
A |
2: 152,992,904 (GRCm39) |
H470Q |
probably benign |
Het |
Hsd17b4 |
T |
C |
18: 50,299,981 (GRCm39) |
Y413H |
probably benign |
Het |
Ice1 |
A |
G |
13: 70,740,758 (GRCm39) |
F80L |
|
Het |
Ifrd1 |
G |
A |
12: 40,267,458 (GRCm39) |
P38S |
possibly damaging |
Het |
Itgad |
A |
G |
7: 127,788,479 (GRCm39) |
T431A |
probably benign |
Het |
Kcnd3 |
A |
T |
3: 105,566,003 (GRCm39) |
I395F |
probably damaging |
Het |
Kif20a |
A |
G |
18: 34,759,779 (GRCm39) |
E58G |
probably benign |
Het |
Kras |
A |
T |
6: 145,192,442 (GRCm39) |
D30E |
probably benign |
Het |
Lmbrd1 |
C |
T |
1: 24,724,593 (GRCm39) |
A59V |
probably damaging |
Het |
Lrrc20 |
T |
C |
10: 61,383,890 (GRCm39) |
L99P |
probably damaging |
Het |
Mfn2 |
T |
C |
4: 147,966,649 (GRCm39) |
D514G |
probably benign |
Het |
Myl2 |
A |
G |
5: 122,242,902 (GRCm39) |
E96G |
probably damaging |
Het |
Nppb |
T |
G |
4: 148,070,518 (GRCm39) |
L29R |
probably damaging |
Het |
Or51f1e |
C |
T |
7: 102,747,713 (GRCm39) |
A255V |
possibly damaging |
Het |
Or5ak22 |
A |
G |
2: 85,230,097 (GRCm39) |
V260A |
probably benign |
Het |
Pcdhb14 |
A |
G |
18: 37,581,281 (GRCm39) |
H129R |
probably damaging |
Het |
Pex11g |
T |
C |
8: 3,509,363 (GRCm39) |
N188S |
possibly damaging |
Het |
Pla2g3 |
A |
G |
11: 3,442,170 (GRCm39) |
D410G |
probably benign |
Het |
Pnma1 |
C |
A |
12: 84,194,232 (GRCm39) |
W157L |
probably benign |
Het |
Pofut2 |
A |
G |
10: 77,103,090 (GRCm39) |
Y362C |
probably damaging |
Het |
Ppp1r14c |
C |
A |
10: 3,373,567 (GRCm39) |
S126* |
probably null |
Het |
Psg27 |
T |
C |
7: 18,299,081 (GRCm39) |
H80R |
probably benign |
Het |
Rere |
T |
A |
4: 150,554,770 (GRCm39) |
V156D |
probably damaging |
Het |
Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
Samd8 |
G |
A |
14: 21,830,227 (GRCm39) |
V281I |
probably benign |
Het |
Scarf1 |
A |
G |
11: 75,404,401 (GRCm39) |
|
probably benign |
Het |
Scgb2b27 |
A |
G |
7: 33,712,722 (GRCm39) |
L40P |
probably benign |
Het |
Sdk1 |
A |
T |
5: 142,147,708 (GRCm39) |
H1780L |
probably benign |
Het |
Slc10a6 |
T |
C |
5: 103,754,521 (GRCm39) |
T337A |
probably benign |
Het |
Slc44a4 |
A |
T |
17: 35,140,219 (GRCm39) |
D208V |
probably benign |
Het |
Slco1c1 |
G |
T |
6: 141,493,553 (GRCm39) |
C363F |
probably benign |
Het |
Smg5 |
T |
A |
3: 88,261,848 (GRCm39) |
L707Q |
probably damaging |
Het |
Supt5 |
A |
T |
7: 28,016,412 (GRCm39) |
D789E |
probably benign |
Het |
Tbcd |
A |
G |
11: 121,464,648 (GRCm39) |
Y561C |
probably damaging |
Het |
Tectb |
T |
C |
19: 55,183,097 (GRCm39) |
L316P |
probably benign |
Het |
Thrsp |
T |
C |
7: 97,066,326 (GRCm39) |
T129A |
possibly damaging |
Het |
Tnpo3 |
T |
C |
6: 29,558,851 (GRCm39) |
H693R |
probably benign |
Het |
Trim54 |
T |
G |
5: 31,294,478 (GRCm39) |
D335E |
probably benign |
Het |
Tsr1 |
A |
G |
11: 74,790,126 (GRCm39) |
D107G |
probably benign |
Het |
Ttc41 |
A |
T |
10: 86,595,089 (GRCm39) |
E954D |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,538,595 (GRCm39) |
L34701P |
possibly damaging |
Het |
Vmn1r119 |
A |
C |
7: 20,746,034 (GRCm39) |
V116G |
probably damaging |
Het |
Vmn1r219 |
G |
A |
13: 23,346,769 (GRCm39) |
|
probably benign |
Het |
Zc3h12c |
T |
A |
9: 52,028,010 (GRCm39) |
M470L |
probably benign |
Het |
Zmynd8 |
T |
C |
2: 165,654,668 (GRCm39) |
K615E |
possibly 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 |
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'- ATCACCGCTGGAACCCTTAG -3'
(R):5'- CTCCCGGTCTAAAGGTCTTTG -3'
Sequencing Primer
(F):5'- CTGGAACCCTTAGACTTGGTGC -3'
(R):5'- GGTCTAAAGGTCTTTGCACCCG -3'
|
Posted On |
2022-04-18 |