Incidental Mutation 'R7694:Dchs2'
| ID |
593533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dchs2
|
| Ensembl Gene |
ENSMUSG00000102692 |
| Gene Name |
dachsous cadherin related 2 |
| Synonyms |
LOC229459 |
| MMRRC Submission |
045757-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R7694 (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 C
at 83036789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 512
(L512P)
|
| 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: L512P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: L512P
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
G |
17: 14,109,144 (GRCm39) |
S1571A |
probably damaging |
Het |
| Agbl1 |
C |
A |
7: 76,348,513 (GRCm39) |
A870D |
unknown |
Het |
| Alpl |
C |
T |
4: 137,471,120 (GRCm39) |
G339R |
probably damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,504,498 (GRCm39) |
Y415H |
probably damaging |
Het |
| Cd69 |
G |
A |
6: 129,247,008 (GRCm39) |
R111C |
possibly damaging |
Het |
| Cdh26 |
A |
T |
2: 178,101,896 (GRCm39) |
T172S |
probably damaging |
Het |
| Cflar |
T |
A |
1: 58,791,966 (GRCm39) |
V423E |
|
Het |
| Cgrrf1 |
A |
C |
14: 47,091,415 (GRCm39) |
Q313P |
possibly damaging |
Het |
| Chga |
G |
A |
12: 102,527,606 (GRCm39) |
A87T |
probably benign |
Het |
| Chrna4 |
T |
A |
2: 180,660,386 (GRCm39) |
D102V |
|
Het |
| Cpvl |
A |
T |
6: 53,909,502 (GRCm39) |
Y211* |
probably null |
Het |
| Cyp26a1 |
G |
A |
19: 37,689,512 (GRCm39) |
D403N |
possibly damaging |
Het |
| Dll3 |
A |
C |
7: 28,001,170 (GRCm39) |
M1R |
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,503,337 (GRCm39) |
T1564A |
probably damaging |
Het |
| Efhb |
A |
G |
17: 53,707,836 (GRCm39) |
S776P |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,758,822 (GRCm39) |
S1831G |
probably damaging |
Het |
| Fat1 |
G |
T |
8: 45,441,967 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
T |
C |
4: 141,632,375 (GRCm39) |
K1255E |
probably benign |
Het |
| Fitm2 |
C |
T |
2: 163,311,892 (GRCm39) |
C107Y |
probably damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,621,146 (GRCm39) |
V153A |
probably benign |
Het |
| Ggnbp2 |
A |
G |
11: 84,751,539 (GRCm39) |
V87A |
possibly damaging |
Het |
| Glb1l |
G |
T |
1: 75,178,436 (GRCm39) |
A334E |
probably damaging |
Het |
| Gnas |
T |
G |
2: 174,142,005 (GRCm39) |
L784R |
probably damaging |
Het |
| Gtf2i |
C |
T |
5: 134,311,659 (GRCm39) |
E223K |
probably damaging |
Het |
| H2-M10.5 |
T |
C |
17: 37,084,641 (GRCm39) |
Y122H |
probably damaging |
Het |
| Hikeshi |
G |
A |
7: 89,579,554 (GRCm39) |
Q6* |
probably null |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Irak2 |
A |
C |
6: 113,667,859 (GRCm39) |
D528A |
probably damaging |
Het |
| Lcn2 |
A |
G |
2: 32,278,042 (GRCm39) |
C17R |
unknown |
Het |
| Lcp2 |
G |
T |
11: 34,000,924 (GRCm39) |
V36L |
probably benign |
Het |
| Lin7c |
T |
C |
2: 109,726,617 (GRCm39) |
S89P |
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,395,204 (GRCm39) |
A74T |
probably benign |
Het |
| Lrrtm3 |
T |
A |
10: 63,923,818 (GRCm39) |
M450L |
probably benign |
Het |
| Lsm11 |
C |
T |
11: 45,824,768 (GRCm39) |
R253Q |
probably benign |
Het |
| Map9 |
A |
T |
3: 82,266,290 (GRCm39) |
|
probably benign |
Het |
| Mmp2 |
T |
A |
8: 93,558,358 (GRCm39) |
D142E |
possibly damaging |
Het |
| Nrn1l |
A |
T |
8: 106,621,430 (GRCm39) |
T127S |
probably damaging |
Het |
| Or14c46 |
T |
C |
7: 85,918,983 (GRCm39) |
T5A |
probably damaging |
Het |
| Pelp1 |
G |
A |
11: 70,285,585 (GRCm39) |
T761I |
probably damaging |
Het |
| Pmm2 |
T |
A |
16: 8,463,254 (GRCm39) |
V63E |
probably damaging |
Het |
| Ptprb |
T |
A |
10: 116,208,853 (GRCm39) |
L1942H |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,465,366 (GRCm39) |
C1350S |
possibly damaging |
Het |
| Rnf44 |
A |
G |
13: 54,829,841 (GRCm39) |
V381A |
probably damaging |
Het |
| Robo3 |
G |
A |
9: 37,329,816 (GRCm39) |
P1167S |
probably benign |
Het |
| Ryk |
A |
G |
9: 102,775,979 (GRCm39) |
E489G |
probably damaging |
Het |
| Satb2 |
T |
A |
1: 56,910,683 (GRCm39) |
I321L |
probably benign |
Het |
| Sh2b1 |
A |
T |
7: 126,066,929 (GRCm39) |
V655E |
probably benign |
Het |
| Slc16a12 |
G |
A |
19: 34,648,035 (GRCm39) |
T486M |
probably damaging |
Het |
| Slc34a1 |
G |
T |
13: 55,561,221 (GRCm39) |
R562L |
probably benign |
Het |
| Slc4a9 |
A |
G |
18: 36,669,902 (GRCm39) |
E779G |
probably damaging |
Het |
| Strc |
C |
A |
2: 121,207,577 (GRCm39) |
C598F |
probably damaging |
Het |
| Stxbp6 |
A |
T |
12: 44,948,810 (GRCm39) |
F100I |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,424,671 (GRCm39) |
T135A |
probably benign |
Het |
| Tmcc1 |
G |
A |
6: 116,110,805 (GRCm39) |
P159S |
|
Het |
| Tmem106b |
T |
A |
6: 13,078,105 (GRCm39) |
M100K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,578,039 (GRCm39) |
T24285S |
probably damaging |
Het |
| Vmn1r116 |
G |
A |
7: 20,606,337 (GRCm39) |
V53M |
possibly damaging |
Het |
| Zar1 |
A |
T |
5: 72,738,193 (GRCm39) |
S70T |
probably benign |
Het |
| Zfp235 |
C |
T |
7: 23,841,525 (GRCm39) |
T648M |
probably benign |
Het |
| Zfp937 |
C |
T |
2: 150,081,268 (GRCm39) |
H433Y |
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 |
|
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'- TCCTTGGAAAGTGGGAACGG -3'
(R):5'- TGATGCTGAAGGATGGCAC -3'
Sequencing Primer
(F):5'- AACGGAGTCTTTGCGCTGC -3'
(R):5'- ACACTCTTCCTCGGGTGACAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation