Incidental Mutation 'R7632:Dchs2'
| ID |
589676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dchs2
|
| Ensembl Gene |
ENSMUSG00000102692 |
| Gene Name |
dachsous cadherin related 2 |
| Synonyms |
LOC229459 |
| MMRRC Submission |
045720-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R7632 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
83035255-83264516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 83255357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 2351
(A2351V)
|
| 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: A2351V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: A2351V
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
95% (63/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2a2 |
A |
G |
7: 141,211,236 (GRCm39) |
D924G |
probably benign |
Het |
| Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
| Atrnl1 |
A |
G |
19: 57,618,738 (GRCm39) |
D152G |
probably damaging |
Het |
| B3gnt8 |
A |
G |
7: 25,327,860 (GRCm39) |
I97V |
possibly damaging |
Het |
| Bach1 |
A |
G |
16: 87,517,031 (GRCm39) |
D524G |
probably benign |
Het |
| Caprin2 |
T |
C |
6: 148,784,954 (GRCm39) |
S107G |
probably damaging |
Het |
| Ccnb1 |
A |
G |
13: 100,918,209 (GRCm39) |
I207T |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,400,515 (GRCm39) |
D151G |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,851,115 (GRCm39) |
|
probably null |
Het |
| Cep83 |
A |
T |
10: 94,586,502 (GRCm39) |
R433W |
probably damaging |
Het |
| Cspg4b |
C |
A |
13: 113,457,420 (GRCm39) |
S1155R |
|
Het |
| D3Ertd751e |
A |
G |
3: 41,708,163 (GRCm39) |
E100G |
probably benign |
Het |
| Dhx40 |
T |
C |
11: 86,690,263 (GRCm39) |
T253A |
probably benign |
Het |
| Dqx1 |
A |
G |
6: 83,036,680 (GRCm39) |
D228G |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,627,327 (GRCm39) |
M4002T |
probably benign |
Het |
| Flcn |
C |
T |
11: 59,686,625 (GRCm39) |
W376* |
probably null |
Het |
| Flnc |
A |
T |
6: 29,446,984 (GRCm39) |
Y1037F |
probably damaging |
Het |
| Fut11 |
T |
A |
14: 20,745,096 (GRCm39) |
V9E |
probably benign |
Het |
| Fv1 |
T |
A |
4: 147,954,392 (GRCm39) |
N319K |
possibly damaging |
Het |
| Ghrhr |
G |
T |
6: 55,361,727 (GRCm39) |
G298V |
probably benign |
Het |
| Gm5800 |
T |
A |
14: 51,953,905 (GRCm39) |
|
probably null |
Het |
| Grin2b |
A |
G |
6: 135,709,553 (GRCm39) |
M1331T |
probably benign |
Het |
| Hyou1 |
A |
G |
9: 44,292,433 (GRCm39) |
|
probably null |
Het |
| Igkv1-117 |
C |
A |
6: 68,098,792 (GRCm39) |
Q114K |
probably damaging |
Het |
| Igkv4-68 |
A |
G |
6: 69,282,048 (GRCm39) |
V41A |
possibly damaging |
Het |
| Inpp4b |
A |
G |
8: 82,772,968 (GRCm39) |
N754S |
probably damaging |
Het |
| Isl2 |
G |
A |
9: 55,448,440 (GRCm39) |
|
probably null |
Het |
| Kat2a |
G |
A |
11: 100,599,422 (GRCm39) |
Q523* |
probably null |
Het |
| Lypd3 |
T |
C |
7: 24,337,865 (GRCm39) |
F77S |
possibly damaging |
Het |
| Map4k2 |
T |
C |
19: 6,394,084 (GRCm39) |
L297P |
probably benign |
Het |
| Naca |
T |
C |
10: 127,876,375 (GRCm39) |
V469A |
unknown |
Het |
| Notch3 |
C |
T |
17: 32,377,480 (GRCm39) |
V199I |
probably benign |
Het |
| Or4k44 |
T |
C |
2: 111,368,521 (GRCm39) |
I38V |
possibly damaging |
Het |
| Or5b119 |
T |
C |
19: 13,456,795 (GRCm39) |
M256V |
possibly damaging |
Het |
| Pabpc1 |
TGTACCTGTTGCATGGTA |
TGTA |
15: 36,598,212 (GRCm39) |
|
probably null |
Het |
| Pcdhb8 |
A |
T |
18: 37,488,648 (GRCm39) |
I109L |
probably benign |
Het |
| Pde2a |
A |
G |
7: 101,133,801 (GRCm39) |
D104G |
possibly damaging |
Het |
| Phip |
A |
G |
9: 82,785,243 (GRCm39) |
V824A |
probably benign |
Het |
| Plekhg4 |
T |
C |
8: 106,106,782 (GRCm39) |
Y853H |
probably damaging |
Het |
| Plod1 |
T |
C |
4: 148,011,481 (GRCm39) |
K248R |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,953,600 (GRCm39) |
Y656N |
probably benign |
Het |
| Pogz |
G |
A |
3: 94,763,517 (GRCm39) |
|
probably null |
Het |
| Ppp1r3e |
T |
A |
14: 55,114,526 (GRCm39) |
S79C |
probably damaging |
Het |
| Pprc1 |
T |
A |
19: 46,060,721 (GRCm39) |
D1595E |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,547,783 (GRCm39) |
V205A |
probably benign |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,116 (GRCm39) |
V346A |
possibly damaging |
Het |
| Rgs12 |
T |
A |
5: 35,122,934 (GRCm39) |
L239H |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,385,727 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACCGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Scaf1 |
A |
T |
7: 44,656,503 (GRCm39) |
V792D |
unknown |
Het |
| Scrn2 |
G |
T |
11: 96,923,968 (GRCm39) |
R284L |
possibly damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,423,948 (GRCm39) |
Q461L |
possibly damaging |
Het |
| Slc18b1 |
A |
G |
10: 23,702,080 (GRCm39) |
T434A |
probably benign |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Smc4 |
CTA |
CTATA |
3: 68,925,400 (GRCm39) |
|
probably benign |
Het |
| Snx33 |
A |
T |
9: 56,833,702 (GRCm39) |
D122E |
probably damaging |
Het |
| Srebf2 |
G |
T |
15: 82,069,497 (GRCm39) |
V680L |
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Tecpr1 |
C |
T |
5: 144,155,544 (GRCm39) |
V5M |
probably benign |
Het |
| Tfg |
A |
G |
16: 56,532,997 (GRCm39) |
V54A |
possibly damaging |
Het |
| Tmem237 |
C |
T |
1: 59,156,060 (GRCm39) |
C30Y |
probably benign |
Het |
| Tmem245 |
T |
C |
4: 56,916,787 (GRCm39) |
K444R |
probably benign |
Het |
| Trim25 |
T |
G |
11: 88,906,602 (GRCm39) |
L446R |
probably null |
Het |
| Usp37 |
T |
C |
1: 74,507,533 (GRCm39) |
T495A |
probably benign |
Het |
| Vmn1r94 |
T |
G |
7: 19,901,696 (GRCm39) |
T203P |
probably damaging |
Het |
| Ywhah |
T |
A |
5: 33,184,010 (GRCm39) |
M71K |
probably benign |
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 |
|
|
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'- GCTTTAGATGAGAAATCAGGCC -3'
(R):5'- ACTGGTGGATTATCATTGACATCC -3'
Sequencing Primer
(F):5'- CTTGGGCTGAACGATTGAA -3'
(R):5'- ATGATGACGGAACCCTCTGTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation