Incidental Mutation 'R7249:Dchs2'
| ID |
563742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dchs2
|
| Ensembl Gene |
ENSMUSG00000102692 |
| Gene Name |
dachsous cadherin related 2 |
| Synonyms |
LOC229459 |
| MMRRC Submission |
045312-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R7249 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
83035255-83264516 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 83035336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 28
(Q28*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000191829]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000191829
AA Change: Q28*
|
| SMART Domains |
Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: Q28*
| 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: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
T |
C |
8: 79,974,970 (GRCm39) |
T38A |
probably benign |
Het |
| 3425401B19Rik |
G |
T |
14: 32,385,271 (GRCm39) |
S231R |
possibly damaging |
Het |
| Abi1 |
T |
C |
2: 22,847,101 (GRCm39) |
E250G |
possibly damaging |
Het |
| Actl6b |
T |
A |
5: 137,553,347 (GRCm39) |
S120T |
probably damaging |
Het |
| Adgrv1 |
G |
A |
13: 81,522,378 (GRCm39) |
H5920Y |
probably damaging |
Het |
| Adra2c |
G |
A |
5: 35,438,299 (GRCm39) |
R357H |
probably damaging |
Het |
| Ap3d1 |
T |
C |
10: 80,577,767 (GRCm39) |
D20G |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,506,583 (GRCm39) |
D847E |
possibly damaging |
Het |
| Cacna1d |
T |
C |
14: 29,864,660 (GRCm39) |
E434G |
probably damaging |
Het |
| Carm1 |
T |
C |
9: 21,497,505 (GRCm39) |
Y356H |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,741,663 (GRCm39) |
K1075R |
probably damaging |
Het |
| Cyp27b1 |
G |
T |
10: 126,886,918 (GRCm39) |
|
probably null |
Het |
| D630045J12Rik |
A |
T |
6: 38,113,885 (GRCm39) |
V1769D |
possibly damaging |
Het |
| Dpp4 |
A |
G |
2: 62,215,547 (GRCm39) |
F107L |
probably benign |
Het |
| Eln |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
5: 134,739,935 (GRCm39) |
|
probably benign |
Het |
| Faap24 |
A |
G |
7: 35,094,485 (GRCm39) |
V105A |
probably benign |
Het |
| Gabra6 |
A |
T |
11: 42,208,259 (GRCm39) |
D166E |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,033,126 (GRCm39) |
E117G |
probably damaging |
Het |
| H2-T10 |
T |
C |
17: 36,430,269 (GRCm39) |
D224G |
probably damaging |
Het |
| Hspa12a |
T |
A |
19: 58,793,865 (GRCm39) |
E332V |
probably benign |
Het |
| Htr5b |
T |
A |
1: 121,438,203 (GRCm39) |
N343Y |
probably damaging |
Het |
| Irf8 |
C |
A |
8: 121,466,571 (GRCm39) |
N5K |
possibly damaging |
Het |
| Itgb1 |
C |
A |
8: 129,446,885 (GRCm39) |
Q467K |
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,212,550 (GRCm39) |
C1522F |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,025,596 (GRCm39) |
L138I |
probably benign |
Het |
| Lrrc8b |
G |
T |
5: 105,629,133 (GRCm39) |
R493L |
probably benign |
Het |
| Malrd1 |
G |
T |
2: 15,628,151 (GRCm39) |
C400F |
probably damaging |
Het |
| Marchf8 |
G |
A |
6: 116,383,195 (GRCm39) |
E257K |
probably benign |
Het |
| Mastl |
G |
A |
2: 23,036,151 (GRCm39) |
H122Y |
probably damaging |
Het |
| Mis18a |
T |
C |
16: 90,523,202 (GRCm39) |
K98R |
possibly damaging |
Het |
| Msra |
A |
G |
14: 64,678,212 (GRCm39) |
V28A |
probably benign |
Het |
| Mtmr7 |
A |
G |
8: 41,043,520 (GRCm39) |
V177A |
probably benign |
Het |
| Nelfcd |
T |
C |
2: 174,264,999 (GRCm39) |
|
probably null |
Het |
| Nemp1 |
T |
C |
10: 127,529,395 (GRCm39) |
S226P |
probably damaging |
Het |
| Nmnat1 |
G |
A |
4: 149,554,099 (GRCm39) |
T147I |
probably null |
Het |
| Ntng2 |
A |
G |
2: 29,118,004 (GRCm39) |
V148A |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,878,245 (GRCm39) |
H304R |
possibly damaging |
Het |
| Or4a2 |
T |
C |
2: 89,248,217 (GRCm39) |
Y180C |
probably damaging |
Het |
| Phldb2 |
C |
A |
16: 45,621,977 (GRCm39) |
A623S |
probably damaging |
Het |
| Pitrm1 |
C |
T |
13: 6,610,161 (GRCm39) |
T411I |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,974,773 (GRCm39) |
R429Q |
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,849,741 (GRCm39) |
|
probably null |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Pnp |
G |
A |
14: 51,188,887 (GRCm39) |
V227I |
probably benign |
Het |
| Pskh1 |
T |
C |
8: 106,639,886 (GRCm39) |
S189P |
possibly damaging |
Het |
| Rbpms2 |
T |
G |
9: 65,556,632 (GRCm39) |
V24G |
probably damaging |
Het |
| Robo3 |
T |
A |
9: 37,336,129 (GRCm39) |
I446L |
probably benign |
Het |
| Septin8 |
A |
T |
11: 53,425,949 (GRCm39) |
K174I |
probably damaging |
Het |
| Shank1 |
C |
T |
7: 43,976,585 (GRCm39) |
A561V |
unknown |
Het |
| Slco4a1 |
A |
G |
2: 180,106,604 (GRCm39) |
Y262C |
probably benign |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Spidr |
T |
C |
16: 15,784,512 (GRCm39) |
S519G |
probably benign |
Het |
| Ssx2ip |
A |
G |
3: 146,132,193 (GRCm39) |
N218S |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,056,270 (GRCm39) |
V381A |
probably benign |
Het |
| Svil |
T |
C |
18: 5,062,247 (GRCm39) |
S769P |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,061,732 (GRCm39) |
C2595S |
possibly damaging |
Het |
| Tiam1 |
T |
C |
16: 89,640,143 (GRCm39) |
Y858C |
probably damaging |
Het |
| Tie1 |
A |
G |
4: 118,343,425 (GRCm39) |
V146A |
probably benign |
Het |
| Traf3ip1 |
G |
T |
1: 91,455,361 (GRCm39) |
E578D |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,324,663 (GRCm39) |
Y247C |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,826,729 (GRCm39) |
W896R |
probably damaging |
Het |
| Vmn1r157 |
T |
C |
7: 22,461,125 (GRCm39) |
S2P |
probably benign |
Het |
| Xkr4 |
T |
A |
1: 3,287,033 (GRCm39) |
T386S |
probably damaging |
Het |
| Zdhhc24 |
T |
G |
19: 4,928,889 (GRCm39) |
V38G |
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 |
|
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'- AGTTGCAGATGCCACCTTG -3'
(R):5'- AAAGCCATTCCCATCCTGTTGC -3'
Sequencing Primer
(F):5'- CTTCCCTGGCTTAATACTGAAGAGG -3'
(R):5'- TTGCTGAGCTGCTGGCAAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation