Incidental Mutation 'R7090:Dchs2'
| ID |
550136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dchs2
|
| Ensembl Gene |
ENSMUSG00000102692 |
| Gene Name |
dachsous cadherin related 2 |
| Synonyms |
LOC229459 |
| MMRRC Submission |
045184-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R7090 (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 83255581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 2426
(T2426A)
|
| 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: T2426A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: T2426A
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Calm3 |
A |
T |
7: 16,651,004 (GRCm39) |
Y139* |
probably null |
Het |
| Ccdc27 |
T |
C |
4: 154,112,523 (GRCm39) |
N584S |
probably benign |
Het |
| Cdh24 |
C |
G |
14: 54,876,964 (GRCm39) |
G13A |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,452,677 (GRCm39) |
K1281E |
probably damaging |
Het |
| Clasp1 |
G |
T |
1: 118,409,816 (GRCm39) |
G4C |
probably benign |
Het |
| Cul9 |
G |
T |
17: 46,811,765 (GRCm39) |
P2488T |
probably damaging |
Het |
| Daam2 |
A |
G |
17: 49,789,973 (GRCm39) |
V428A |
probably damaging |
Het |
| Dcaf8 |
A |
G |
1: 172,016,535 (GRCm39) |
S441G |
probably damaging |
Het |
| Dnai3 |
C |
A |
3: 145,746,582 (GRCm39) |
K881N |
possibly damaging |
Het |
| Dpys |
A |
G |
15: 39,690,279 (GRCm39) |
V358A |
probably damaging |
Het |
| Efhd1 |
A |
G |
1: 87,217,219 (GRCm39) |
D112G |
probably damaging |
Het |
| Exoc1 |
T |
C |
5: 76,714,800 (GRCm39) |
S120P |
unknown |
Het |
| Fyco1 |
A |
G |
9: 123,626,784 (GRCm39) |
L1309S |
probably damaging |
Het |
| Gm14403 |
A |
G |
2: 177,201,114 (GRCm39) |
N111S |
possibly damaging |
Het |
| Gm5901 |
A |
G |
7: 105,026,555 (GRCm39) |
T108A |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Itgb5 |
T |
G |
16: 33,705,464 (GRCm39) |
D251E |
probably damaging |
Het |
| Kcnk15 |
T |
C |
2: 163,700,637 (GRCm39) |
V292A |
probably benign |
Het |
| Kdm2a |
A |
T |
19: 4,369,169 (GRCm39) |
Y1149N |
probably damaging |
Het |
| Kdm3a |
T |
C |
6: 71,572,529 (GRCm39) |
T1011A |
possibly damaging |
Het |
| Krt35 |
A |
T |
11: 99,986,498 (GRCm39) |
|
probably null |
Het |
| Lipn |
T |
A |
19: 34,049,180 (GRCm39) |
D115E |
possibly damaging |
Het |
| Lpin3 |
T |
G |
2: 160,738,672 (GRCm39) |
L208R |
probably damaging |
Het |
| Ltf |
C |
A |
9: 110,855,048 (GRCm39) |
Q354K |
probably benign |
Het |
| Marf1 |
C |
A |
16: 13,929,566 (GRCm39) |
C1680F |
possibly damaging |
Het |
| Mtss2 |
T |
A |
8: 111,456,656 (GRCm39) |
V242E |
probably damaging |
Het |
| Myo7b |
T |
C |
18: 32,131,765 (GRCm39) |
Y477C |
probably damaging |
Het |
| Nbn |
T |
A |
4: 15,981,350 (GRCm39) |
S481T |
probably benign |
Het |
| Ncoa2 |
A |
G |
1: 13,257,062 (GRCm39) |
Y146H |
probably damaging |
Het |
| Ntng1 |
A |
T |
3: 109,842,496 (GRCm39) |
C92* |
probably null |
Het |
| Or10ad1b |
C |
T |
15: 98,125,083 (GRCm39) |
V150I |
probably benign |
Het |
| Or2n1b |
G |
A |
17: 38,460,385 (GRCm39) |
G302D |
probably benign |
Het |
| Or8k18 |
T |
A |
2: 86,085,420 (GRCm39) |
N206Y |
probably damaging |
Het |
| Or8k31-ps1 |
T |
C |
2: 86,356,471 (GRCm39) |
I17V |
probably benign |
Het |
| Os9 |
A |
T |
10: 126,935,547 (GRCm39) |
S308T |
probably benign |
Het |
| Otx2 |
T |
A |
14: 48,896,192 (GRCm39) |
T289S |
probably benign |
Het |
| Pakap |
C |
T |
4: 57,648,042 (GRCm39) |
A60V |
probably benign |
Het |
| Pigg |
A |
G |
5: 108,484,378 (GRCm39) |
T675A |
possibly damaging |
Het |
| Pink1 |
C |
T |
4: 138,042,912 (GRCm39) |
E461K |
probably damaging |
Het |
| Pip5k1a |
A |
G |
3: 94,967,809 (GRCm39) |
S543P |
possibly damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,206,611 (GRCm39) |
T454A |
probably benign |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Rab31 |
C |
T |
17: 66,005,012 (GRCm39) |
V83I |
possibly damaging |
Het |
| Rabggtb |
G |
T |
3: 153,615,986 (GRCm39) |
D117E |
probably benign |
Het |
| Rbl1 |
T |
C |
2: 156,994,820 (GRCm39) |
H951R |
probably benign |
Het |
| Sapcd2 |
A |
G |
2: 25,266,091 (GRCm39) |
S314G |
probably benign |
Het |
| Septin4 |
T |
C |
11: 87,475,264 (GRCm39) |
L164P |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,356,760 (GRCm39) |
E541G |
probably damaging |
Het |
| Slc26a7 |
C |
A |
4: 14,565,460 (GRCm39) |
G208* |
probably null |
Het |
| Smco2 |
A |
G |
6: 146,772,711 (GRCm39) |
I304M |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,818,491 (GRCm39) |
|
probably null |
Het |
| Spocd1 |
T |
C |
4: 129,847,691 (GRCm39) |
F552L |
|
Het |
| St6galnac2 |
T |
C |
11: 116,568,461 (GRCm39) |
D334G |
probably damaging |
Het |
| Sub1 |
A |
G |
15: 11,986,572 (GRCm39) |
S92P |
probably benign |
Het |
| Syne2 |
T |
C |
12: 75,989,125 (GRCm39) |
F1829L |
probably benign |
Het |
| Tdrd1 |
T |
C |
19: 56,839,833 (GRCm39) |
V631A |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 111,958,904 (GRCm39) |
S113P |
probably benign |
Het |
| Tgfbrap1 |
A |
C |
1: 43,110,725 (GRCm39) |
V260G |
probably damaging |
Het |
| Tyw3 |
G |
C |
3: 154,299,426 (GRCm39) |
S94R |
probably benign |
Het |
| Urb2 |
T |
C |
8: 124,757,338 (GRCm39) |
V1015A |
probably benign |
Het |
| Usp5 |
A |
G |
6: 124,806,357 (GRCm39) |
M1T |
probably null |
Het |
| Utrn |
T |
C |
10: 12,560,260 (GRCm39) |
D1343G |
possibly damaging |
Het |
| Vmn2r56 |
T |
C |
7: 12,449,254 (GRCm39) |
Y328C |
probably damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,613,972 (GRCm39) |
E564V |
possibly damaging |
Het |
| Zc3h8 |
T |
C |
2: 128,777,241 (GRCm39) |
T133A |
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 |
|
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 |
|
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'- GCAGCCAAGTTTGCTATCAGTC -3'
(R):5'- GCTGACTTCACTTGCCACTG -3'
Sequencing Primer
(F):5'- GCCAAGTTTGCTATCAGTCAGGAC -3'
(R):5'- ACATGCCTGATGTCTGTAGAGAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation