Incidental Mutation 'R8757:Dchs2'
| ID |
671672 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dchs2
|
| Ensembl Gene |
ENSMUSG00000102692 |
| Gene Name |
dachsous cadherin related 2 |
| Synonyms |
LOC229459 |
| MMRRC Submission |
068621-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R8757 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
83035255-83264516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83261567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 2612
(V2612M)
|
| 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: V2612M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: V2612M
| 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 |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
T |
C |
11: 117,697,112 (GRCm39) |
V237A |
probably benign |
Het |
| Abca15 |
G |
A |
7: 120,006,631 (GRCm39) |
V1632M |
probably damaging |
Het |
| Adam20 |
A |
T |
8: 41,248,943 (GRCm39) |
H351L |
probably benign |
Het |
| Ak9 |
T |
C |
10: 41,299,036 (GRCm39) |
V1579A |
unknown |
Het |
| Apol7e |
T |
C |
15: 77,602,065 (GRCm39) |
V221A |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,933,640 (GRCm39) |
H754R |
probably damaging |
Het |
| Atp6v0d2 |
T |
A |
4: 19,910,649 (GRCm39) |
R80S |
probably benign |
Het |
| Cers3 |
G |
A |
7: 66,435,850 (GRCm39) |
V270M |
probably damaging |
Het |
| Ces3a |
A |
G |
8: 105,784,129 (GRCm39) |
H443R |
probably damaging |
Het |
| Cnot7 |
A |
G |
8: 40,947,080 (GRCm39) |
V269A |
probably benign |
Het |
| Cntn1 |
T |
G |
15: 92,153,801 (GRCm39) |
F485V |
possibly damaging |
Het |
| Copa |
A |
G |
1: 171,947,081 (GRCm39) |
I1068M |
probably benign |
Het |
| Dgkz |
T |
C |
2: 91,775,922 (GRCm39) |
T114A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,586,067 (GRCm39) |
D538E |
probably benign |
Het |
| Epn3 |
C |
A |
11: 94,386,848 (GRCm39) |
G174V |
possibly damaging |
Het |
| Evx2 |
C |
T |
2: 74,486,226 (GRCm39) |
A388T |
probably benign |
Het |
| Fancd2 |
T |
C |
6: 113,537,054 (GRCm39) |
M553T |
possibly damaging |
Het |
| Ficd |
G |
T |
5: 113,876,575 (GRCm39) |
R250L |
probably damaging |
Het |
| Fmo2 |
A |
G |
1: 162,708,005 (GRCm39) |
S377P |
probably benign |
Het |
| Gm19410 |
A |
T |
8: 36,276,119 (GRCm39) |
Q1592L |
possibly damaging |
Het |
| Gm4792 |
T |
A |
10: 94,131,049 (GRCm39) |
T87S |
unknown |
Het |
| Gm8947 |
C |
A |
1: 151,068,809 (GRCm39) |
T214K |
probably benign |
Het |
| H6pd |
C |
T |
4: 150,066,758 (GRCm39) |
V551I |
probably benign |
Het |
| Hace1 |
T |
A |
10: 45,546,539 (GRCm39) |
I391N |
possibly damaging |
Het |
| Heyl |
C |
T |
4: 123,127,666 (GRCm39) |
R3W |
probably damaging |
Het |
| Htr4 |
T |
A |
18: 62,545,335 (GRCm39) |
V40E |
probably damaging |
Het |
| Ighg1 |
A |
T |
12: 113,292,657 (GRCm39) |
L304* |
probably null |
Het |
| Igkv1-135 |
T |
A |
6: 67,587,470 (GRCm39) |
W114R |
possibly damaging |
Het |
| Itga8 |
T |
C |
2: 12,266,940 (GRCm39) |
D165G |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,754,210 (GRCm39) |
V1210E |
unknown |
Het |
| Lipt2 |
GGCGCCCGCGCGCG |
GGCG |
7: 99,808,888 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
A |
G |
11: 103,348,766 (GRCm39) |
V2643A |
unknown |
Het |
| Map4k5 |
A |
G |
12: 69,897,598 (GRCm39) |
|
probably benign |
Het |
| Mecom |
A |
T |
3: 30,292,268 (GRCm39) |
D14E |
|
Het |
| Myo3a |
G |
T |
2: 22,448,319 (GRCm39) |
K969N |
possibly damaging |
Het |
| Nat3 |
T |
C |
8: 68,000,202 (GRCm39) |
I27T |
probably damaging |
Het |
| Nr1d1 |
G |
C |
11: 98,660,073 (GRCm39) |
R484G |
probably damaging |
Het |
| Nr2c1 |
T |
C |
10: 94,031,119 (GRCm39) |
L560P |
probably damaging |
Het |
| Or52e8 |
T |
C |
7: 104,624,325 (GRCm39) |
N293S |
probably damaging |
Het |
| Pik3cg |
T |
C |
12: 32,255,006 (GRCm39) |
D327G |
probably damaging |
Het |
| Ppihl |
A |
T |
5: 44,070,999 (GRCm39) |
N119I |
probably benign |
Het |
| Ppp1r13l |
G |
T |
7: 19,103,981 (GRCm39) |
G154V |
probably damaging |
Het |
| Psmc5 |
A |
G |
11: 106,153,687 (GRCm39) |
D382G |
probably benign |
Het |
| Ptprz1 |
C |
A |
6: 22,972,716 (GRCm39) |
Q209K |
possibly damaging |
Het |
| Rev1 |
A |
C |
1: 38,098,353 (GRCm39) |
L730R |
probably damaging |
Het |
| Rin3 |
G |
A |
12: 102,339,861 (GRCm39) |
V684I |
probably damaging |
Het |
| Ror1 |
T |
A |
4: 100,298,080 (GRCm39) |
F484L |
probably benign |
Het |
| Secisbp2 |
G |
A |
13: 51,833,869 (GRCm39) |
V670I |
possibly damaging |
Het |
| Sema6d |
G |
A |
2: 124,497,134 (GRCm39) |
C136Y |
probably damaging |
Het |
| Sf3a2 |
T |
A |
10: 80,640,138 (GRCm39) |
H316Q |
unknown |
Het |
| Slc18b1 |
T |
C |
10: 23,692,198 (GRCm39) |
|
silent |
Het |
| Sp100 |
T |
C |
1: 85,590,285 (GRCm39) |
V93A |
possibly damaging |
Het |
| Spta1 |
C |
T |
1: 174,040,940 (GRCm39) |
L1247F |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,144,618 (GRCm39) |
N21I |
probably damaging |
Het |
| Tbck |
G |
T |
3: 132,392,587 (GRCm39) |
M9I |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,274,500 (GRCm39) |
Y376C |
probably damaging |
Het |
| Tmem199 |
T |
A |
11: 78,398,633 (GRCm39) |
|
probably benign |
Het |
| Ttf2 |
A |
G |
3: 100,857,648 (GRCm39) |
L759P |
probably damaging |
Het |
| Ubqlnl |
T |
A |
7: 103,799,206 (GRCm39) |
H97L |
probably damaging |
Het |
| Zfp800 |
T |
C |
6: 28,244,270 (GRCm39) |
I232V |
probably benign |
Het |
| Zfp831 |
A |
G |
2: 174,487,874 (GRCm39) |
T850A |
probably benign |
Het |
| Zpld2 |
T |
C |
4: 133,930,282 (GRCm39) |
T8A |
unknown |
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 |
|
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'- AGCTTGAGTGAAGATACACCC -3'
(R):5'- CTGCCGATACCATGGTGATGTG -3'
Sequencing Primer
(F):5'- CTTGAGTGAAGATACACCCATCGG -3'
(R):5'- GATACCATGGTGATGTGACTCCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation