Incidental Mutation 'R8693:Dchs2'
| ID |
668484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dchs2
|
| Ensembl Gene |
ENSMUSG00000102692 |
| Gene Name |
dachsous cadherin related 2 |
| Synonyms |
LOC229459 |
| MMRRC Submission |
068547-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R8693 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
83035255-83264516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83192631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 1692
(V1692D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000191829]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191829
AA Change: V1692D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: V1692D
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
C |
19: 43,810,474 (GRCm39) |
S924P |
probably benign |
Het |
| Acacb |
A |
G |
5: 114,364,844 (GRCm39) |
H1508R |
probably damaging |
Het |
| Adam34 |
T |
C |
8: 44,104,641 (GRCm39) |
M335V |
probably benign |
Het |
| Akap8 |
A |
T |
17: 32,529,625 (GRCm39) |
N438K |
probably damaging |
Het |
| Alpi |
C |
A |
1: 87,026,405 (GRCm39) |
G529C |
unknown |
Het |
| Arhgap30 |
T |
C |
1: 171,225,094 (GRCm39) |
V50A |
probably damaging |
Het |
| Armh1 |
T |
C |
4: 117,088,960 (GRCm39) |
E145G |
probably damaging |
Het |
| Ccdc177 |
A |
G |
12: 80,804,582 (GRCm39) |
L564P |
unknown |
Het |
| Cdk12 |
C |
T |
11: 98,141,133 (GRCm39) |
P1458L |
unknown |
Het |
| Chek1 |
A |
G |
9: 36,625,140 (GRCm39) |
F314L |
probably benign |
Het |
| Cndp1 |
T |
C |
18: 84,646,938 (GRCm39) |
D250G |
probably damaging |
Het |
| Cnot3 |
T |
C |
7: 3,656,522 (GRCm39) |
V239A |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,258,492 (GRCm39) |
M2246T |
probably benign |
Het |
| Crhr2 |
A |
G |
6: 55,079,779 (GRCm39) |
F187S |
possibly damaging |
Het |
| Dctd |
T |
A |
8: 48,565,046 (GRCm39) |
I57N |
probably damaging |
Het |
| Dennd5b |
A |
T |
6: 148,911,272 (GRCm39) |
L977* |
probably null |
Het |
| Dhrs13 |
G |
C |
11: 77,923,492 (GRCm39) |
R70P |
possibly damaging |
Het |
| Dysf |
T |
C |
6: 84,088,952 (GRCm39) |
S865P |
probably damaging |
Het |
| Eif2ak3 |
A |
T |
6: 70,858,535 (GRCm39) |
I275F |
possibly damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,262,718 (GRCm39) |
I757N |
probably damaging |
Het |
| Exog |
A |
G |
9: 119,276,108 (GRCm39) |
Q110R |
possibly damaging |
Het |
| Fbxl4 |
T |
C |
4: 22,403,704 (GRCm39) |
C426R |
probably benign |
Het |
| Fndc11 |
A |
C |
2: 180,863,864 (GRCm39) |
H223P |
probably damaging |
Het |
| Frmd3 |
T |
A |
4: 74,080,286 (GRCm39) |
S334R |
probably damaging |
Het |
| Galnt14 |
A |
T |
17: 73,833,257 (GRCm39) |
I239N |
probably damaging |
Het |
| Gm5930 |
C |
T |
14: 44,576,015 (GRCm39) |
M1I |
probably null |
Het |
| Igkv4-63 |
A |
G |
6: 69,355,051 (GRCm39) |
S77P |
probably benign |
Het |
| Igkv5-48 |
G |
A |
6: 69,703,779 (GRCm39) |
S42F |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 33,854,884 (GRCm39) |
Y1992F |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,721,981 (GRCm39) |
Y3788C |
unknown |
Het |
| Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
| Lpo |
T |
C |
11: 87,700,066 (GRCm39) |
N525S |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,046,599 (GRCm39) |
H1399R |
unknown |
Het |
| Mga |
T |
A |
2: 119,794,407 (GRCm39) |
V2697E |
possibly damaging |
Het |
| Msto1 |
T |
C |
3: 88,819,184 (GRCm39) |
T188A |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,310,384 (GRCm39) |
H1456R |
probably damaging |
Het |
| Or10d1 |
G |
T |
9: 39,483,800 (GRCm39) |
P252T |
probably damaging |
Het |
| Pbld1 |
A |
T |
10: 62,910,890 (GRCm39) |
K248* |
probably null |
Het |
| Pcdhb12 |
G |
A |
18: 37,570,474 (GRCm39) |
R540H |
probably benign |
Het |
| Pcx |
G |
T |
19: 4,652,039 (GRCm39) |
A96S |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,094,696 (GRCm39) |
I174V |
probably benign |
Het |
| Psme3 |
T |
C |
11: 101,211,422 (GRCm39) |
I193T |
probably damaging |
Het |
| Pygl |
A |
T |
12: 70,244,180 (GRCm39) |
M587K |
probably benign |
Het |
| Rph3a |
A |
T |
5: 121,100,501 (GRCm39) |
H132Q |
probably damaging |
Het |
| Scrib |
C |
A |
15: 75,936,354 (GRCm39) |
D501Y |
probably damaging |
Het |
| Sdad1 |
C |
A |
5: 92,452,857 (GRCm39) |
R127L |
probably benign |
Het |
| Setdb1 |
T |
C |
3: 95,249,041 (GRCm39) |
T356A |
probably damaging |
Het |
| Sh3bgrl3 |
T |
C |
4: 133,855,116 (GRCm39) |
D73G |
probably benign |
Het |
| Sipa1l1 |
G |
T |
12: 82,216,517 (GRCm39) |
|
probably benign |
Het |
| Slc17a8 |
G |
A |
10: 89,428,758 (GRCm39) |
A261V |
probably benign |
Het |
| Sox6 |
T |
A |
7: 115,261,632 (GRCm39) |
I195F |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,090,928 (GRCm39) |
K809E |
possibly damaging |
Het |
| Tmem30c |
G |
A |
16: 57,086,855 (GRCm39) |
T316M |
probably damaging |
Het |
| Tnfrsf19 |
T |
C |
14: 61,208,451 (GRCm39) |
T357A |
probably benign |
Het |
| Top2a |
T |
A |
11: 98,900,868 (GRCm39) |
T574S |
probably damaging |
Het |
| Trappc3l |
G |
A |
10: 33,974,917 (GRCm39) |
C133Y |
probably damaging |
Het |
| Unk |
C |
T |
11: 115,938,640 (GRCm39) |
T81I |
probably damaging |
Het |
| Vamp1 |
G |
A |
6: 125,217,388 (GRCm39) |
R144K |
unknown |
Het |
| Wnt9b |
T |
C |
11: 103,624,487 (GRCm39) |
N101S |
probably damaging |
Het |
| Wwtr1 |
T |
A |
3: 57,369,945 (GRCm39) |
D390V |
probably 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 |
|
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'- AGCGATGTAAGCTGTGGTAG -3'
(R):5'- GGCTACTCTCTCCCATGAGTAC -3'
Sequencing Primer
(F):5'- CTGTGGTAGAGTAAGCAAGCAGTC -3'
(R):5'- CTGAATCCGTGTCTTCAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation