Incidental Mutation 'R7529:Dchs2'
| ID |
583176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dchs2
|
| Ensembl Gene |
ENSMUSG00000102692 |
| Gene Name |
dachsous cadherin related 2 |
| Synonyms |
LOC229459 |
| MMRRC Submission |
045601-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R7529 (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 83261705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 2658
(V2658M)
|
| 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: V2658M
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: V2658M
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (79/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
T |
A |
7: 127,836,336 (GRCm39) |
K86* |
probably null |
Het |
| Ablim3 |
A |
C |
18: 61,955,039 (GRCm39) |
S317A |
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,089,157 (GRCm39) |
S524P |
probably damaging |
Het |
| Agps |
C |
A |
2: 75,662,696 (GRCm39) |
A47E |
possibly damaging |
Het |
| Arhgef15 |
G |
T |
11: 68,844,848 (GRCm39) |
R250S |
probably damaging |
Het |
| Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
| Atoh8 |
G |
T |
6: 72,200,825 (GRCm39) |
D288E |
probably benign |
Het |
| B3galt2 |
A |
C |
1: 143,522,274 (GRCm39) |
K137Q |
probably benign |
Het |
| Cacna2d4 |
G |
A |
6: 119,247,727 (GRCm39) |
V343I |
probably benign |
Het |
| Cage1 |
T |
C |
13: 38,209,731 (GRCm39) |
N82S |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,737,669 (GRCm39) |
S2725P |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,965,769 (GRCm39) |
N414D |
probably damaging |
Het |
| Cgnl1 |
A |
C |
9: 71,539,040 (GRCm39) |
L1154R |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,233,942 (GRCm39) |
M382K |
probably benign |
Het |
| Dlgap5 |
T |
C |
14: 47,653,876 (GRCm39) |
N51S |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,940,692 (GRCm39) |
|
probably null |
Het |
| Dnal1 |
A |
G |
12: 84,178,117 (GRCm39) |
I35V |
probably benign |
Het |
| Dtnbp1 |
A |
G |
13: 45,084,546 (GRCm39) |
F198S |
probably damaging |
Het |
| Edar |
A |
T |
10: 58,447,830 (GRCm39) |
S160T |
probably benign |
Het |
| Enpp3 |
A |
T |
10: 24,674,072 (GRCm39) |
N409K |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,282,686 (GRCm39) |
C726* |
probably null |
Het |
| Extl2 |
G |
A |
3: 115,821,055 (GRCm39) |
V301I |
possibly damaging |
Het |
| G2e3 |
A |
G |
12: 51,418,387 (GRCm39) |
Q594R |
probably damaging |
Het |
| Gal3st2c |
A |
G |
1: 93,937,039 (GRCm39) |
N328S |
probably benign |
Het |
| Galnt17 |
A |
G |
5: 131,335,218 (GRCm39) |
V74A |
probably damaging |
Het |
| Ggta1 |
A |
G |
2: 35,304,256 (GRCm39) |
W76R |
probably damaging |
Het |
| Gm9772 |
T |
A |
17: 22,226,140 (GRCm39) |
D48V |
probably benign |
Het |
| Herpud2 |
T |
C |
9: 25,020,193 (GRCm39) |
T388A |
probably damaging |
Het |
| Ighv5-9-1 |
A |
G |
12: 113,699,954 (GRCm39) |
S53P |
possibly damaging |
Het |
| Il23r |
T |
A |
6: 67,467,720 (GRCm39) |
M16L |
possibly damaging |
Het |
| Ints1 |
G |
A |
5: 139,753,481 (GRCm39) |
A717V |
possibly damaging |
Het |
| Itpr2 |
A |
T |
6: 146,096,096 (GRCm39) |
L2122Q |
probably damaging |
Het |
| Klrg2 |
A |
T |
6: 38,607,266 (GRCm39) |
V248E |
probably damaging |
Het |
| Krtap5-5 |
A |
G |
7: 141,783,429 (GRCm39) |
C74R |
unknown |
Het |
| Luzp1 |
G |
T |
4: 136,268,243 (GRCm39) |
L155F |
probably damaging |
Het |
| Mcam |
T |
C |
9: 44,050,192 (GRCm39) |
V209A |
probably benign |
Het |
| Med1 |
G |
C |
11: 98,046,791 (GRCm39) |
T1335R |
unknown |
Het |
| Mroh2b |
A |
G |
15: 4,978,491 (GRCm39) |
I1346V |
probably damaging |
Het |
| Mrpl4 |
C |
G |
9: 20,918,975 (GRCm39) |
Q201E |
probably benign |
Het |
| Muc21 |
A |
T |
17: 35,930,123 (GRCm39) |
S1354R |
unknown |
Het |
| Mylk2 |
T |
C |
2: 152,757,624 (GRCm39) |
L326P |
probably damaging |
Het |
| Myot |
A |
T |
18: 44,479,240 (GRCm39) |
R326* |
probably null |
Het |
| Nox3 |
T |
A |
17: 3,722,050 (GRCm39) |
R288S |
probably damaging |
Het |
| Nox4 |
A |
T |
7: 87,044,976 (GRCm39) |
Y572F |
unknown |
Het |
| Or2v2 |
A |
G |
11: 49,003,686 (GRCm39) |
L289P |
probably damaging |
Het |
| Or5an10 |
A |
G |
19: 12,276,086 (GRCm39) |
S137P |
probably damaging |
Het |
| Pcdhb15 |
G |
T |
18: 37,607,526 (GRCm39) |
E253* |
probably null |
Het |
| Plcb2 |
T |
C |
2: 118,540,715 (GRCm39) |
H1052R |
probably damaging |
Het |
| Plpp5 |
A |
T |
8: 26,214,233 (GRCm39) |
Q250L |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,326,179 (GRCm39) |
Y38H |
probably benign |
Het |
| Pnpla8 |
A |
G |
12: 44,329,963 (GRCm39) |
K172E |
probably benign |
Het |
| Pramel23 |
T |
C |
4: 143,429,244 (GRCm39) |
|
|
Het |
| Prl8a9 |
T |
A |
13: 27,744,511 (GRCm39) |
D110V |
probably benign |
Het |
| Prrx1 |
T |
C |
1: 163,081,533 (GRCm39) |
|
probably null |
Het |
| Prss52 |
T |
A |
14: 64,347,037 (GRCm39) |
H70Q |
probably benign |
Het |
| Rcc1 |
T |
C |
4: 132,061,874 (GRCm39) |
T300A |
probably benign |
Het |
| Rnf114 |
T |
C |
2: 167,349,014 (GRCm39) |
V64A |
possibly damaging |
Het |
| Rnf168 |
T |
C |
16: 32,117,732 (GRCm39) |
I431T |
probably damaging |
Het |
| Rnmt |
A |
G |
18: 68,444,726 (GRCm39) |
M232V |
probably benign |
Het |
| Rrs1 |
A |
C |
1: 9,616,417 (GRCm39) |
Q223H |
probably benign |
Het |
| Scyl3 |
A |
T |
1: 163,771,438 (GRCm39) |
L261F |
probably damaging |
Het |
| Slc24a4 |
A |
T |
12: 102,230,707 (GRCm39) |
T533S |
probably benign |
Het |
| Slc26a2 |
A |
G |
18: 61,331,430 (GRCm39) |
L667P |
probably damaging |
Het |
| Snrnp40 |
T |
A |
4: 130,278,275 (GRCm39) |
V260D |
possibly damaging |
Het |
| Snrpa |
A |
C |
7: 26,888,878 (GRCm39) |
M174R |
probably benign |
Het |
| Ss18l1 |
C |
T |
2: 179,699,950 (GRCm39) |
A270V |
possibly damaging |
Het |
| Stk19 |
G |
T |
17: 35,043,632 (GRCm39) |
Q193K |
probably benign |
Het |
| Syne1 |
T |
A |
10: 5,374,382 (GRCm39) |
I142L |
probably damaging |
Het |
| Tbx2 |
T |
C |
11: 85,731,727 (GRCm39) |
S675P |
probably benign |
Het |
| Tcaf1 |
A |
G |
6: 42,652,289 (GRCm39) |
I731T |
probably damaging |
Het |
| Tg |
G |
T |
15: 66,566,617 (GRCm39) |
G1222W |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,816,922 (GRCm39) |
F1581L |
probably damaging |
Het |
| Ubr4 |
G |
C |
4: 139,149,728 (GRCm39) |
V520L |
probably benign |
Het |
| Wls |
A |
T |
3: 159,578,644 (GRCm39) |
N69Y |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,254,457 (GRCm39) |
F353L |
possibly damaging |
Het |
| Xkr6 |
G |
T |
14: 64,056,610 (GRCm39) |
V430F |
probably benign |
Het |
| Zfp64 |
C |
T |
2: 168,735,992 (GRCm39) |
G562R |
probably benign |
Het |
| Zfp663 |
T |
G |
2: 165,194,728 (GRCm39) |
E497A |
probably damaging |
Het |
| Zfp995 |
A |
T |
17: 22,099,333 (GRCm39) |
C300* |
probably null |
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 |
|
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'- GTTGCTTCATGCTCTGGACAG -3'
(R):5'- AAGAGACGTGTTTCTCCTCCTC -3'
Sequencing Primer
(F):5'- TCTGGACAGAGAAGCTAGTGCC -3'
(R):5'- CTCCTCATCTGTAGCTTGGATGG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation