Incidental Mutation 'R8897:Dchs2'
| ID |
678081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dchs2
|
| Ensembl Gene |
ENSMUSG00000102692 |
| Gene Name |
dachsous cadherin related 2 |
| Synonyms |
LOC229459 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R8897 (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 G
at 83036720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 489
(L489R)
|
| 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: L489R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: L489R
| 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: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,635,934 (GRCm39) |
L329Q |
probably damaging |
Het |
| Adam26b |
A |
T |
8: 43,974,009 (GRCm39) |
M331K |
possibly damaging |
Het |
| Ak3 |
T |
C |
19: 29,025,118 (GRCm39) |
S38G |
probably damaging |
Het |
| Ankrd10 |
A |
T |
8: 11,665,788 (GRCm39) |
C271S |
possibly damaging |
Het |
| Ap1s3 |
A |
G |
1: 79,601,494 (GRCm39) |
Y66H |
probably damaging |
Het |
| Ap4b1 |
A |
T |
3: 103,729,065 (GRCm39) |
I736L |
probably benign |
Het |
| Arpp19 |
T |
A |
9: 74,963,948 (GRCm39) |
M67K |
possibly damaging |
Het |
| Brf1 |
T |
G |
12: 112,951,589 (GRCm39) |
H130P |
probably damaging |
Het |
| Cacna1s |
C |
G |
1: 136,045,392 (GRCm39) |
T1680S |
probably benign |
Het |
| Cckar |
C |
T |
5: 53,864,583 (GRCm39) |
|
probably benign |
Het |
| Cd93 |
T |
C |
2: 148,283,532 (GRCm39) |
K605E |
probably benign |
Het |
| Cdcp3 |
T |
C |
7: 130,867,566 (GRCm39) |
M1409T |
unknown |
Het |
| Ces1h |
C |
T |
8: 94,080,093 (GRCm39) |
V474I |
unknown |
Het |
| Cfap70 |
A |
T |
14: 20,493,669 (GRCm39) |
|
probably null |
Het |
| Ch25h |
G |
A |
19: 34,452,441 (GRCm39) |
T29I |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 48,222,739 (GRCm39) |
T329S |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,315,623 (GRCm39) |
N1139S |
probably damaging |
Het |
| Cyp2j6 |
G |
T |
4: 96,414,087 (GRCm39) |
H393N |
probably benign |
Het |
| Cyp8b1 |
C |
A |
9: 121,745,358 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,110,098 (GRCm39) |
T1173A |
probably benign |
Het |
| Exoc3l2 |
T |
G |
7: 19,203,931 (GRCm39) |
|
probably null |
Het |
| Fastkd3 |
G |
A |
13: 68,732,303 (GRCm39) |
R208H |
probably damaging |
Het |
| Fbxo16 |
C |
A |
14: 65,531,287 (GRCm39) |
R64S |
probably benign |
Het |
| Frem3 |
A |
T |
8: 81,339,419 (GRCm39) |
I571F |
probably damaging |
Het |
| Ftsj3 |
T |
A |
11: 106,144,602 (GRCm39) |
D129V |
probably damaging |
Het |
| Gm6370 |
A |
G |
5: 146,430,447 (GRCm39) |
T211A |
probably benign |
Het |
| Gpr171 |
A |
T |
3: 59,005,116 (GRCm39) |
S220T |
probably benign |
Het |
| Gsta3 |
T |
C |
1: 21,330,370 (GRCm39) |
I124T |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,316,112 (GRCm39) |
I4335V |
probably benign |
Het |
| Ift80 |
T |
C |
3: 68,857,809 (GRCm39) |
I279V |
probably benign |
Het |
| Ighv1-13 |
T |
A |
12: 114,594,439 (GRCm39) |
M47K |
unknown |
Het |
| Il22ra2 |
A |
G |
10: 19,507,401 (GRCm39) |
N138S |
probably damaging |
Het |
| Impact |
A |
G |
18: 13,123,551 (GRCm39) |
D298G |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,643,943 (GRCm39) |
|
probably null |
Het |
| Kif5b |
T |
C |
18: 6,225,437 (GRCm39) |
N198D |
probably damaging |
Het |
| Klhl36 |
A |
G |
8: 120,597,279 (GRCm39) |
T327A |
probably benign |
Het |
| Lepr |
A |
G |
4: 101,649,233 (GRCm39) |
N878S |
probably damaging |
Het |
| Lpxn |
T |
A |
19: 12,802,525 (GRCm39) |
F244L |
probably damaging |
Het |
| Lrriq4 |
C |
A |
3: 30,709,807 (GRCm39) |
L384I |
probably damaging |
Het |
| Ltbp4 |
A |
C |
7: 27,026,119 (GRCm39) |
I629S |
probably benign |
Het |
| Lypd5 |
T |
C |
7: 24,051,015 (GRCm39) |
V42A |
probably benign |
Het |
| Mc4r |
A |
G |
18: 66,992,304 (GRCm39) |
S270P |
probably damaging |
Het |
| Mctp2 |
T |
G |
7: 71,909,311 (GRCm39) |
M1L |
probably benign |
Het |
| Myh4 |
G |
A |
11: 67,137,362 (GRCm39) |
E528K |
possibly damaging |
Het |
| Nes |
T |
A |
3: 87,886,653 (GRCm39) |
H1637Q |
possibly damaging |
Het |
| Or4f7 |
T |
C |
2: 111,644,576 (GRCm39) |
D165G |
probably benign |
Het |
| Or5g25 |
A |
T |
2: 85,478,187 (GRCm39) |
H159Q |
possibly damaging |
Het |
| Or8b3b |
C |
T |
9: 38,584,147 (GRCm39) |
V198I |
probably damaging |
Het |
| Pan3 |
T |
C |
5: 147,387,472 (GRCm39) |
M147T |
probably benign |
Het |
| Pcdhga6 |
G |
T |
18: 37,841,642 (GRCm39) |
R454L |
probably benign |
Het |
| Pdss2 |
A |
G |
10: 43,221,663 (GRCm39) |
S192G |
probably damaging |
Het |
| Pld6 |
A |
T |
11: 59,678,382 (GRCm39) |
M27K |
probably benign |
Het |
| Plec |
C |
T |
15: 76,057,598 (GRCm39) |
R4113H |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,467,953 (GRCm39) |
S1379P |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 79,019,566 (GRCm39) |
H35R |
probably damaging |
Het |
| Rasgrp2 |
A |
G |
19: 6,453,100 (GRCm39) |
T75A |
probably benign |
Het |
| Rexo1 |
A |
G |
10: 80,378,437 (GRCm39) |
L1172P |
probably damaging |
Het |
| Rfx7 |
C |
T |
9: 72,525,123 (GRCm39) |
S771L |
probably benign |
Het |
| Rpap3 |
A |
G |
15: 97,585,998 (GRCm39) |
I331T |
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,546,002 (GRCm39) |
|
probably null |
Het |
| Sec23ip |
T |
A |
7: 128,354,467 (GRCm39) |
V241D |
probably benign |
Het |
| Sez6l |
C |
A |
5: 112,588,744 (GRCm39) |
Q656H |
possibly damaging |
Het |
| Sh3gl2 |
A |
T |
4: 85,273,597 (GRCm39) |
I50L |
probably benign |
Het |
| Tab2 |
T |
C |
10: 7,786,897 (GRCm39) |
D605G |
probably damaging |
Het |
| Tas2r110 |
T |
A |
6: 132,845,374 (GRCm39) |
V135D |
probably damaging |
Het |
| Thap12 |
T |
C |
7: 98,364,534 (GRCm39) |
M234T |
probably benign |
Het |
| Trhr |
C |
A |
15: 44,060,736 (GRCm39) |
D85E |
probably benign |
Het |
| Trim67 |
A |
G |
8: 125,552,718 (GRCm39) |
I607V |
probably benign |
Het |
| Trpm4 |
C |
T |
7: 44,960,055 (GRCm39) |
C760Y |
probably benign |
Het |
| Ttll9 |
T |
C |
2: 152,844,841 (GRCm39) |
V403A |
probably damaging |
Het |
| Uhrf1 |
T |
C |
17: 56,617,817 (GRCm39) |
Y180H |
probably damaging |
Het |
| Unc119b |
C |
T |
5: 115,272,977 (GRCm39) |
|
probably benign |
Het |
| Vmn2r44 |
T |
A |
7: 8,381,242 (GRCm39) |
D217V |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zscan4-ps3 |
A |
T |
7: 11,346,767 (GRCm39) |
R268* |
probably null |
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 |
|
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 |
|
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'- TCGAGTCTCAGTGTCCGATG -3'
(R):5'- CGCCTGGTCAGCATCTAAAG -3'
Sequencing Primer
(F):5'- TCTCAGTGTCCGATGCCGAC -3'
(R):5'- TGGTCAGCATCTAAAGCGCTG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation