Incidental Mutation 'R8506:Dchs2'
| ID |
655554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dchs2
|
| Ensembl Gene |
ENSMUSG00000102692 |
| Gene Name |
dachsous cadherin related 2 |
| Synonyms |
LOC229459 |
| MMRRC Submission |
067842-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R8506 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
83035255-83264516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83208481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 1845
(I1845L)
|
| 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: I1845L
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: I1845L
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
A |
T |
9: 101,820,171 (GRCm39) |
E197V |
possibly damaging |
Het |
| Alkbh8 |
C |
T |
9: 3,335,616 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,586,851 (GRCm39) |
A498T |
probably damaging |
Het |
| Antxr1 |
T |
A |
6: 87,165,155 (GRCm39) |
E427D |
possibly damaging |
Het |
| App |
A |
C |
16: 84,879,704 (GRCm39) |
V143G |
unknown |
Het |
| Bod1l |
C |
A |
5: 41,976,398 (GRCm39) |
E1639* |
probably null |
Het |
| C2cd2 |
T |
C |
16: 97,676,621 (GRCm39) |
D122G |
|
Het |
| Ccdc88b |
G |
T |
19: 6,824,690 (GRCm39) |
P1357T |
probably damaging |
Het |
| Ccnyl1 |
A |
G |
1: 64,753,821 (GRCm39) |
T211A |
possibly damaging |
Het |
| Cdc25a |
T |
C |
9: 109,720,820 (GRCm39) |
Y434H |
probably damaging |
Het |
| Ceacam16 |
C |
A |
7: 19,586,195 (GRCm39) |
A106S |
unknown |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Chpf2 |
T |
C |
5: 24,793,295 (GRCm39) |
L87P |
probably damaging |
Het |
| Col5a2 |
A |
T |
1: 45,481,944 (GRCm39) |
I60N |
unknown |
Het |
| Cux1 |
T |
A |
5: 136,337,358 (GRCm39) |
E718V |
probably damaging |
Het |
| Disp3 |
C |
T |
4: 148,326,027 (GRCm39) |
V1244I |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,940,108 (GRCm39) |
S1685P |
probably benign |
Het |
| Etnppl |
G |
A |
3: 130,423,122 (GRCm39) |
V274I |
possibly damaging |
Het |
| Evc2 |
T |
C |
5: 37,540,486 (GRCm39) |
S561P |
probably damaging |
Het |
| Fga |
A |
G |
3: 82,940,623 (GRCm39) |
E759G |
probably damaging |
Het |
| Gdpd5 |
T |
C |
7: 99,103,157 (GRCm39) |
F372S |
probably benign |
Het |
| Gpr155 |
T |
C |
2: 73,173,806 (GRCm39) |
T868A |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,380,863 (GRCm39) |
D3580G |
possibly damaging |
Het |
| Hmbs |
A |
G |
9: 44,252,921 (GRCm39) |
|
probably null |
Het |
| Ibsp |
A |
T |
5: 104,457,947 (GRCm39) |
E161D |
probably damaging |
Het |
| Ighv8-4 |
A |
G |
12: 114,987,728 (GRCm39) |
V90A |
possibly damaging |
Het |
| Itpr2 |
A |
G |
6: 146,319,914 (GRCm39) |
|
probably null |
Het |
| Kcnc2 |
T |
A |
10: 112,291,537 (GRCm39) |
F242I |
probably damaging |
Het |
| Kcnj5 |
A |
G |
9: 32,233,628 (GRCm39) |
I229T |
probably damaging |
Het |
| Lamb1 |
A |
T |
12: 31,379,360 (GRCm39) |
L1791F |
probably damaging |
Het |
| Med6 |
A |
T |
12: 81,641,734 (GRCm39) |
M1K |
probably null |
Het |
| Mei4 |
A |
G |
9: 81,861,291 (GRCm39) |
D294G |
probably benign |
Het |
| Nat10 |
T |
C |
2: 103,562,582 (GRCm39) |
I585V |
probably benign |
Het |
| Nid1 |
T |
C |
13: 13,650,759 (GRCm39) |
V432A |
probably damaging |
Het |
| Nlrp4c |
G |
T |
7: 6,103,775 (GRCm39) |
G903V |
possibly damaging |
Het |
| Nrf1 |
G |
A |
6: 30,126,256 (GRCm39) |
A416T |
probably benign |
Het |
| Nsl1 |
G |
C |
1: 190,808,832 (GRCm39) |
C173S |
unknown |
Het |
| Obsl1 |
G |
A |
1: 75,482,300 (GRCm39) |
A190V |
probably benign |
Het |
| Or13a22 |
G |
A |
7: 140,073,336 (GRCm39) |
V262I |
probably benign |
Het |
| Or51f1d |
T |
A |
7: 102,700,709 (GRCm39) |
M68K |
probably damaging |
Het |
| Or5b3 |
A |
G |
19: 13,388,604 (GRCm39) |
T224A |
possibly damaging |
Het |
| Or5w8 |
A |
T |
2: 87,688,181 (GRCm39) |
I221F |
probably damaging |
Het |
| Or8k3 |
A |
G |
2: 86,058,922 (GRCm39) |
L131P |
possibly damaging |
Het |
| Or8k38 |
T |
C |
2: 86,488,745 (GRCm39) |
D19G |
probably benign |
Het |
| Osbpl1a |
G |
A |
18: 12,901,643 (GRCm39) |
T621I |
probably benign |
Het |
| Pabpc4l |
G |
A |
3: 46,400,832 (GRCm39) |
R271* |
probably null |
Het |
| Paics |
A |
T |
5: 77,112,437 (GRCm39) |
D307V |
possibly damaging |
Het |
| Pcdhga9 |
A |
G |
18: 37,871,737 (GRCm39) |
D522G |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,590,759 (GRCm39) |
C1020S |
unknown |
Het |
| Pfkfb4 |
T |
G |
9: 108,834,667 (GRCm39) |
D113E |
possibly damaging |
Het |
| Plod3 |
A |
G |
5: 137,017,830 (GRCm39) |
Y202C |
probably damaging |
Het |
| Pmp22 |
T |
A |
11: 63,049,090 (GRCm39) |
M111K |
probably damaging |
Het |
| Pole2 |
A |
C |
12: 69,255,734 (GRCm39) |
S344A |
probably benign |
Het |
| Pom121l2 |
A |
G |
13: 22,167,789 (GRCm39) |
T687A |
probably benign |
Het |
| Psmd6 |
A |
G |
14: 14,114,181 (GRCm38) |
S313P |
probably damaging |
Het |
| Rd3 |
T |
G |
1: 191,715,228 (GRCm39) |
M1R |
probably null |
Het |
| Rtn4ip1 |
G |
A |
10: 43,804,352 (GRCm39) |
V235I |
probably benign |
Het |
| Senp5 |
T |
C |
16: 31,787,719 (GRCm39) |
I635V |
probably damaging |
Het |
| Stox2 |
T |
C |
8: 47,645,108 (GRCm39) |
E784G |
possibly damaging |
Het |
| Syce2 |
A |
T |
8: 85,613,795 (GRCm39) |
D168V |
probably benign |
Het |
| Taar6 |
A |
G |
10: 23,861,529 (GRCm39) |
S6P |
probably benign |
Het |
| Tbc1d16 |
A |
C |
11: 119,039,784 (GRCm39) |
H675Q |
probably damaging |
Het |
| Tmem151b |
A |
T |
17: 45,856,327 (GRCm39) |
I371N |
probably damaging |
Het |
| Trim31 |
A |
T |
17: 37,218,150 (GRCm39) |
|
probably null |
Het |
| Usp48 |
A |
G |
4: 137,338,029 (GRCm39) |
Y268C |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,207,270 (GRCm39) |
S17P |
probably benign |
Het |
| Vmn2r110 |
T |
A |
17: 20,804,627 (GRCm39) |
N98Y |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,446,891 (GRCm39) |
D515E |
probably benign |
Het |
| Yeats2 |
T |
G |
16: 19,971,684 (GRCm39) |
I42M |
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 |
|
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'- TCAGTACTAGTGCGAGATGGC -3'
(R):5'- TTTCAAGACCACGACCTTAGAG -3'
Sequencing Primer
(F):5'- AGATGGCGGTGTCCCTTCATTATC -3'
(R):5'- ACCACGACCTTAGAGAATTTGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation