Incidental Mutation 'RF012:Dchs2'
ID 603254
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) question?
Stock # RF012 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 83035255-83264516 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83262375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 2881 (E2881G)
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: E2881G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000141425
Gene: ENSMUSG00000102692
AA Change: E2881G

DomainStartEndE-ValueType
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: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.8%
Validation Efficiency 89% (56/63)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T A 12: 113,453,552 (GRCm39) L123Q probably damaging Het
AI837181 GCG GCGTCG 19: 5,475,255 (GRCm39) probably benign Het
Akr1e1 T A 13: 4,645,125 (GRCm39) N242I probably damaging Het
Ankrd7 G C 6: 18,869,274 (GRCm39) E194Q possibly damaging Het
Ano3 A G 2: 110,527,868 (GRCm39) F517L possibly damaging Het
Arhgef4 CAAA C 1: 34,763,565 (GRCm39) probably benign Het
Arid1a AGACGACGA AGACGA 4: 133,480,131 (GRCm39) probably benign Het
Atp2c2 G T 8: 120,472,253 (GRCm39) A436S possibly damaging Het
BC004004 T A 17: 29,501,782 (GRCm39) V107E probably benign Het
Begain CGCCGC CGCCGCAGCCGC 12: 108,999,353 (GRCm39) probably benign Het
Cad GT G 5: 31,217,556 (GRCm39) probably benign Het
Chi3l1 A T 1: 134,112,909 (GRCm39) T122S probably benign Het
Clic6 A G 16: 92,327,697 (GRCm39) S501G possibly damaging Het
Col6a3 A C 1: 90,738,282 (GRCm39) L1079R probably damaging Het
Coro2a T C 4: 46,542,336 (GRCm39) K346E probably damaging Het
Ctsf A G 19: 4,908,694 (GRCm39) N325D probably benign Het
Dnah14 A G 1: 181,455,463 (GRCm39) T863A probably damaging Het
Dnai2 A T 11: 114,641,242 (GRCm39) I356F probably damaging Het
Dusp4 ACGGCGGCGGCGGC ACGGCGGCGGC 8: 35,274,953 (GRCm39) probably benign Het
Efhb T C 17: 53,720,545 (GRCm39) N647D probably damaging Het
Efhd2 CCG CCGACGGCG 4: 141,602,079 (GRCm39) probably benign Het
Eif3i A G 4: 129,485,872 (GRCm39) Y318H probably damaging Het
Fbxl5 T C 5: 43,930,847 (GRCm39) H80R probably damaging Het
Gab3 TCT TCTGCT X: 74,043,626 (GRCm39) probably benign Het
Gne G T 4: 44,060,045 (GRCm39) A147D probably damaging Het
Gpi1 A T 7: 33,901,902 (GRCm39) H538Q probably damaging Het
Itih2 T C 2: 10,122,214 (GRCm39) H229R possibly damaging Het
Kdm7a A G 6: 39,183,447 (GRCm39) V41A probably damaging Het
Krtap28-10 GCCACA GCCACACCCACA 1: 83,019,857 (GRCm39) probably benign Het
Lipa A T 19: 34,486,498 (GRCm39) S141R probably damaging Het
Medag G T 5: 149,335,459 (GRCm39) C6F probably benign Het
Nefh GGCCTCT GGCCTCTCCTGGGGACTTTGCCTCT 11: 4,891,055 (GRCm39) probably benign Het
Nefh GGGACTTGGCCTCACCTGGGGACTTGGCCTC GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,030 (GRCm39) probably benign Het
Nefh GACTTGGCCTCACCTGGG GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG 11: 4,891,032 (GRCm39) probably benign Het
Opa1 A G 16: 29,432,784 (GRCm39) I482M probably damaging Het
Or12e14 A T 2: 87,677,103 (GRCm39) I163L probably benign Het
Pgf T C 12: 85,216,316 (GRCm39) probably null Het
Pkhd1l1 TTTT TTTTTTTTTTTATTT 15: 44,421,901 (GRCm39) probably benign Het
Pou2f1 G A 1: 165,740,800 (GRCm39) T134I unknown Het
Pramel32 T A 4: 88,546,006 (GRCm39) R445S probably damaging Het
Prss52 A G 14: 64,350,922 (GRCm39) S236G probably damaging Het
Rpsa A G 9: 119,960,105 (GRCm39) T223A probably benign Het
Shprh A G 10: 11,040,585 (GRCm39) N686S probably benign Het
Six3 CGG CGGTGG 17: 85,928,796 (GRCm39) probably benign Het
Six4 TG T 12: 73,150,356 (GRCm39) probably null Het
Slc22a27 C T 19: 7,903,949 (GRCm39) G63S probably benign Het
Tmcc2 G T 1: 132,288,756 (GRCm39) N310K probably damaging Het
Tmem144 A T 3: 79,729,961 (GRCm39) L263Q probably damaging Het
Tpra1 T C 6: 88,886,324 (GRCm39) V101A probably damaging Het
Troap T C 15: 98,973,281 (GRCm39) S16P probably benign Het
Ttn T C 2: 76,543,915 (GRCm39) T33024A probably benign Het
Usp2 A ACATGTGACCTGTTCTTCACTTACT 9: 44,000,427 (GRCm39) probably benign Het
Was CTCCTCCT C X: 7,952,470 (GRCm39) probably null Het
Zfp672 A G 11: 58,206,938 (GRCm39) V461A probably benign Het
Other mutations in Dchs2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Z1177:Dchs2 UTSW 3 83,178,447 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TGAGAGTGTCAGGGAGTACTGC -3'
(R):5'- ATTCACAAACACGCTGCAGG -3'

Sequencing Primer
(F):5'- GAGTACTGCCTCCTGGTTCAG -3'
(R):5'- ACACGCTGCAGGATGTG -3'
Posted On 2019-12-04