Incidental Mutation 'R1171:Dchs1'
ID99406
Institutional Source Beutler Lab
Gene Symbol Dchs1
Ensembl Gene ENSMUSG00000036862
Gene Namedachsous cadherin related 1
Synonyms3110041P15Rik, C130033F22Rik
MMRRC Submission 039244-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1171 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location105752990-105787654 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105757714 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 2195 (S2195P)
Ref Sequence ENSEMBL: ENSMUSP00000077574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078482]
Predicted Effect probably benign
Transcript: ENSMUST00000078482
AA Change: S2195P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077574
Gene: ENSMUSG00000036862
AA Change: S2195P

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
CA 58 135 5.2e-11 SMART
CA 159 247 6.1e-17 SMART
CA 271 354 2.6e-30 SMART
CA 382 464 7.8e-26 SMART
CA 489 570 1.2e-34 SMART
CA 594 677 1.9e-27 SMART
CA 701 782 5.3e-11 SMART
CA 806 886 1e-12 SMART
CA 910 990 3.3e-14 SMART
CA 1016 1097 3.6e-18 SMART
CA 1121 1203 3.1e-34 SMART
CA 1233 1307 8.8e-16 SMART
low complexity region 1323 1335 N/A INTRINSIC
CA 1344 1427 9.9e-9 SMART
CA 1451 1537 1.5e-23 SMART
CA 1560 1640 7.2e-32 SMART
CA 1664 1742 1.8e-31 SMART
CA 1765 1846 7.8e-30 SMART
CA 1870 1951 3.7e-26 SMART
low complexity region 1957 1965 N/A INTRINSIC
CA 1979 2059 1.1e-6 SMART
CA 2083 2162 2.7e-18 SMART
CA 2186 2268 2.2e-26 SMART
CA 2291 2367 1e-18 SMART
CA 2391 2473 1.8e-23 SMART
CA 2497 2593 3.5e-21 SMART
CA 2617 2697 1.2e-25 SMART
CA 2721 2804 1.9e-18 SMART
CA 2828 2919 3e-3 SMART
transmembrane domain 2932 2954 N/A INTRINSIC
low complexity region 3001 3017 N/A INTRINSIC
low complexity region 3046 3055 N/A INTRINSIC
low complexity region 3088 3097 N/A INTRINSIC
low complexity region 3185 3196 N/A INTRINSIC
low complexity region 3237 3259 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131504
Predicted Effect silent
Transcript: ENSMUST00000140959
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.6%
  • 10x: 96.2%
  • 20x: 91.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, growth retardation, small lungs, abnormal cochlea morphology, abnormal kidney morphology, cardiovascular abnormalities and skeletal abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017D01Rik T C 19: 11,112,377 Y48C probably damaging Het
Acsm5 A T 7: 119,540,852 E492V probably damaging Het
Arid4a G A 12: 71,075,338 S509N probably benign Het
Atr T C 9: 95,907,323 F1511L probably damaging Het
BC005561 T C 5: 104,520,903 V1097A possibly damaging Het
Bdkrb2 G T 12: 105,592,157 R219L probably benign Het
Bhmt2 A T 13: 93,662,329 M328K probably benign Het
Btbd3 A G 2: 138,283,961 D286G probably benign Het
Bub1b T G 2: 118,606,686 L122V probably benign Het
Caml T C 13: 55,625,007 S155P probably damaging Het
Cfap43 T C 19: 47,835,711 K74E probably benign Het
Chst4 A G 8: 110,030,623 S120P probably damaging Het
Col11a1 A G 3: 114,066,564 D213G unknown Het
Cxcl10 TACTCAC TACTCACTCAC 5: 92,348,082 probably null Het
Cxcl10 CAC CACTAAC 5: 92,348,086 probably null Het
Cyp26b1 A T 6: 84,576,671 I167N possibly damaging Het
Ddx25 T A 9: 35,546,846 K326* probably null Het
Dip2c A T 13: 9,493,126 Y36F possibly damaging Het
Dock2 T C 11: 34,695,241 D538G probably damaging Het
E4f1 C T 17: 24,451,549 D55N probably damaging Het
Emp1 G T 6: 135,381,079 W141L probably damaging Het
Faim2 T A 15: 99,500,254 H271L probably benign Het
Fbxw9 T C 8: 85,066,078 M352T possibly damaging Het
Fcrls A T 3: 87,256,860 F321I probably benign Het
Frzb C T 2: 80,438,490 probably null Het
Gal3st1 G T 11: 3,998,931 K379N probably damaging Het
Gm5519 G A 19: 33,822,972 C22Y possibly damaging Het
Gpn3 T C 5: 122,378,520 F71L probably benign Het
H2-M9 A G 17: 36,641,653 V167A probably benign Het
Hars A G 18: 36,771,414 F182L possibly damaging Het
Hid1 T C 11: 115,352,717 T502A probably benign Het
Hipk3 G T 2: 104,471,676 T57K probably benign Het
Iqsec2 A G X: 152,144,731 S87G probably benign Het
Itpk1 G A 12: 102,606,119 L112F probably damaging Het
Klk9 T A 7: 43,794,393 D110E possibly damaging Het
Lemd3 A T 10: 120,949,341 M535K possibly damaging Het
Lipg A T 18: 74,945,823 S453T possibly damaging Het
Lrrc75a A T 11: 62,609,243 W150R probably damaging Het
Lyg1 T C 1: 37,947,224 E143G probably damaging Het
Map3k1 A G 13: 111,755,643 V1026A probably benign Het
Mgat3 T A 15: 80,211,637 F222I probably benign Het
Mindy4 A T 6: 55,255,616 N348I possibly damaging Het
Myo1b A C 1: 51,778,525 F532C probably damaging Het
Naif1 T A 2: 32,452,546 N36K probably damaging Het
Nkpd1 C A 7: 19,524,087 A597E possibly damaging Het
Npr2 A G 4: 43,647,260 D772G possibly damaging Het
Olfr2 T C 7: 107,001,584 N92S probably benign Het
Olfr658 T G 7: 104,644,997 D123A probably damaging Het
Pcolce2 A T 9: 95,694,740 M355L probably benign Het
Pdgfra A T 5: 75,173,447 I394F probably damaging Het
Pdzrn3 G A 6: 101,150,877 R943C probably damaging Het
Pml A G 9: 58,234,538 V337A probably damaging Het
Pnpla2 T A 7: 141,458,881 M321K probably benign Het
Poln A T 5: 34,103,940 N546K probably damaging Het
Ppp1r16a C T 15: 76,693,669 Q328* probably null Het
Prss28 T A 17: 25,310,055 F123L possibly damaging Het
Psg18 A G 7: 18,346,079 V399A probably benign Het
Rab5a T C 17: 53,506,415 C212R probably damaging Het
Ranbp6 A T 19: 29,812,279 D224E probably benign Het
Recql4 T C 15: 76,704,039 I1104M possibly damaging Het
Rev1 A T 1: 38,088,500 N226K possibly damaging Het
Rhbdl3 T A 11: 80,353,592 V375E possibly damaging Het
Senp6 T A 9: 80,116,725 N423K possibly damaging Het
Sertad2 C G 11: 20,648,091 L96V probably benign Het
Slc33a1 T A 3: 63,953,894 T296S probably benign Het
Smurf2 G A 11: 106,852,618 P188S possibly damaging Het
Spta1 T A 1: 174,211,614 Y1174* probably null Het
Stra6l A T 4: 45,864,982 T103S probably benign Het
Swt1 C T 1: 151,405,521 A352T probably damaging Het
Tdgf1 C A 9: 110,943,167 V54L probably benign Het
Tigd2 T A 6: 59,211,376 N409K possibly damaging Het
Tlr6 G T 5: 64,955,250 H105N probably benign Het
Tmprss9 A C 10: 80,879,858 T15P possibly damaging Het
Tnik C T 3: 28,532,940 T120M probably damaging Het
Tnr T A 1: 159,858,210 I337N probably damaging Het
Top3a A G 11: 60,750,593 Y422H probably benign Het
Trim67 A G 8: 124,829,081 N768S probably damaging Het
Ttn A G 2: 76,705,966 V35016A probably benign Het
Utrn A C 10: 12,481,308 S312R probably damaging Het
Vdac2 A G 14: 21,837,811 Y62C probably damaging Het
Vwa5b2 A G 16: 20,604,984 T1216A probably benign Het
Wfdc16 T C 2: 164,638,483 K31E possibly damaging Het
Wtip C T 7: 34,125,496 C221Y probably damaging Het
Xrn1 A G 9: 95,991,011 D640G possibly damaging Het
Zdhhc5 T C 2: 84,692,341 R293G probably benign Het
Zfp536 T C 7: 37,569,634 D119G probably damaging Het
Zfp81 T C 17: 33,335,280 T187A probably benign Het
Zfp810 C T 9: 22,278,826 G262D possibly damaging Het
Zfp963 A C 8: 69,743,019 I203M possibly damaging Het
Zfpm2 T C 15: 41,101,679 M520T probably damaging Het
Zswim8 G A 14: 20,713,113 R360Q possibly damaging Het
Zwilch T A 9: 64,158,717 H254L possibly damaging Het
Other mutations in Dchs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Dchs1 APN 7 105758743 missense probably damaging 1.00
IGL00422:Dchs1 APN 7 105758029 missense possibly damaging 0.88
IGL00427:Dchs1 APN 7 105758424 missense probably damaging 0.98
IGL00469:Dchs1 APN 7 105755261 missense probably damaging 1.00
IGL00470:Dchs1 APN 7 105758207 missense probably damaging 1.00
IGL00534:Dchs1 APN 7 105757943 missense probably benign
IGL01292:Dchs1 APN 7 105760891 missense probably damaging 0.98
IGL01380:Dchs1 APN 7 105762211 missense probably damaging 1.00
IGL01396:Dchs1 APN 7 105772283 missense probably damaging 1.00
IGL01448:Dchs1 APN 7 105771927 missense probably damaging 0.98
IGL01759:Dchs1 APN 7 105755302 missense probably benign 0.00
IGL01829:Dchs1 APN 7 105755397 missense probably damaging 0.99
IGL01946:Dchs1 APN 7 105759105 missense probably damaging 1.00
IGL01955:Dchs1 APN 7 105757591 missense probably benign 0.00
IGL02012:Dchs1 APN 7 105764297 missense probably damaging 0.98
IGL02222:Dchs1 APN 7 105764887 missense probably damaging 1.00
IGL02261:Dchs1 APN 7 105772569 missense probably damaging 1.00
IGL02365:Dchs1 APN 7 105755188 missense probably benign 0.22
IGL02430:Dchs1 APN 7 105771971 missense probably benign 0.34
IGL02500:Dchs1 APN 7 105755806 missense probably benign
IGL02741:Dchs1 APN 7 105757323 missense probably damaging 1.00
IGL02890:Dchs1 APN 7 105756491 missense probably damaging 1.00
IGL03213:Dchs1 APN 7 105755072 missense probably damaging 1.00
P0026:Dchs1 UTSW 7 105758405 missense probably damaging 0.99
PIT4377001:Dchs1 UTSW 7 105757588 missense probably damaging 1.00
PIT4791001:Dchs1 UTSW 7 105758971 missense probably damaging 1.00
R0013:Dchs1 UTSW 7 105755836 missense possibly damaging 0.90
R0090:Dchs1 UTSW 7 105755932 missense probably benign 0.18
R0091:Dchs1 UTSW 7 105766094 splice site probably benign
R0193:Dchs1 UTSW 7 105764983 missense probably benign 0.40
R0395:Dchs1 UTSW 7 105758538 missense probably damaging 1.00
R0448:Dchs1 UTSW 7 105765927 missense probably benign 0.00
R0480:Dchs1 UTSW 7 105771489 missense probably benign 0.14
R0485:Dchs1 UTSW 7 105772727 missense probably benign 0.00
R0566:Dchs1 UTSW 7 105759195 missense probably benign 0.00
R0571:Dchs1 UTSW 7 105771996 missense probably damaging 1.00
R0573:Dchs1 UTSW 7 105758778 missense probably damaging 0.98
R0577:Dchs1 UTSW 7 105764255 missense possibly damaging 0.78
R0622:Dchs1 UTSW 7 105763449 missense probably damaging 1.00
R0654:Dchs1 UTSW 7 105772349 missense probably damaging 1.00
R0677:Dchs1 UTSW 7 105764984 missense probably damaging 1.00
R1241:Dchs1 UTSW 7 105758178 missense probably damaging 1.00
R1389:Dchs1 UTSW 7 105755571 missense probably benign 0.40
R1427:Dchs1 UTSW 7 105766191 missense probably benign 0.06
R1458:Dchs1 UTSW 7 105755244 missense probably damaging 1.00
R1513:Dchs1 UTSW 7 105772071 nonsense probably null
R1524:Dchs1 UTSW 7 105764525 missense probably damaging 1.00
R1525:Dchs1 UTSW 7 105758931 missense probably damaging 1.00
R1534:Dchs1 UTSW 7 105772040 missense probably damaging 0.98
R1567:Dchs1 UTSW 7 105771861 missense probably benign 0.01
R1577:Dchs1 UTSW 7 105765955 missense probably damaging 1.00
R1603:Dchs1 UTSW 7 105762770 missense probably benign 0.24
R1676:Dchs1 UTSW 7 105754921 missense probably benign 0.40
R1794:Dchs1 UTSW 7 105771720 missense probably benign 0.02
R1826:Dchs1 UTSW 7 105757627 missense probably damaging 1.00
R1892:Dchs1 UTSW 7 105764156 missense probably benign 0.00
R1924:Dchs1 UTSW 7 105772280 missense possibly damaging 0.81
R1932:Dchs1 UTSW 7 105765902 missense probably damaging 1.00
R1962:Dchs1 UTSW 7 105764201 missense probably damaging 1.00
R1985:Dchs1 UTSW 7 105772398 missense possibly damaging 0.72
R1993:Dchs1 UTSW 7 105762548 missense probably benign 0.00
R2007:Dchs1 UTSW 7 105755325 missense probably damaging 1.00
R2316:Dchs1 UTSW 7 105764204 missense possibly damaging 0.71
R2351:Dchs1 UTSW 7 105754094 missense probably benign
R2474:Dchs1 UTSW 7 105755074 missense probably benign 0.37
R2474:Dchs1 UTSW 7 105772838 missense probably damaging 1.00
R3429:Dchs1 UTSW 7 105756504 missense possibly damaging 0.85
R3430:Dchs1 UTSW 7 105756504 missense possibly damaging 0.85
R3737:Dchs1 UTSW 7 105762316 missense possibly damaging 0.88
R3767:Dchs1 UTSW 7 105757085 missense possibly damaging 0.67
R3874:Dchs1 UTSW 7 105761635 missense probably damaging 1.00
R3883:Dchs1 UTSW 7 105762563 missense probably damaging 1.00
R4105:Dchs1 UTSW 7 105765140 missense probably damaging 1.00
R4209:Dchs1 UTSW 7 105766190 missense probably damaging 0.99
R4329:Dchs1 UTSW 7 105753759 missense probably damaging 1.00
R4516:Dchs1 UTSW 7 105754852 missense probably damaging 1.00
R4579:Dchs1 UTSW 7 105754765 missense probably damaging 1.00
R4579:Dchs1 UTSW 7 105758973 missense probably benign
R4588:Dchs1 UTSW 7 105756041 missense probably benign
R4613:Dchs1 UTSW 7 105772724 missense probably damaging 1.00
R4632:Dchs1 UTSW 7 105754355 missense probably benign 0.02
R4696:Dchs1 UTSW 7 105764627 missense probably damaging 1.00
R4725:Dchs1 UTSW 7 105755253 missense probably damaging 0.98
R4725:Dchs1 UTSW 7 105765552 missense probably damaging 1.00
R4738:Dchs1 UTSW 7 105758673 missense probably damaging 0.96
R4768:Dchs1 UTSW 7 105771620 missense possibly damaging 0.96
R4784:Dchs1 UTSW 7 105765926 missense probably damaging 1.00
R4864:Dchs1 UTSW 7 105755253 missense probably damaging 0.98
R4880:Dchs1 UTSW 7 105755730 missense probably benign 0.00
R4909:Dchs1 UTSW 7 105766255 missense probably damaging 1.00
R5102:Dchs1 UTSW 7 105772177 missense probably benign 0.09
R5109:Dchs1 UTSW 7 105765014 missense probably benign
R5126:Dchs1 UTSW 7 105753517 missense probably damaging 1.00
R5149:Dchs1 UTSW 7 105755658 missense probably damaging 0.98
R5330:Dchs1 UTSW 7 105754602 missense probably damaging 1.00
R5384:Dchs1 UTSW 7 105758029 missense probably damaging 1.00
R5384:Dchs1 UTSW 7 105772055 missense probably damaging 1.00
R5386:Dchs1 UTSW 7 105758029 missense probably damaging 1.00
R5622:Dchs1 UTSW 7 105755293 missense probably benign 0.11
R5623:Dchs1 UTSW 7 105772769 missense probably damaging 1.00
R5708:Dchs1 UTSW 7 105772809 missense probably damaging 1.00
R5718:Dchs1 UTSW 7 105755748 missense probably benign 0.01
R5743:Dchs1 UTSW 7 105771596 missense probably benign
R5759:Dchs1 UTSW 7 105764176 missense probably damaging 0.99
R5772:Dchs1 UTSW 7 105773040 missense probably damaging 1.00
R5860:Dchs1 UTSW 7 105772035 missense probably damaging 1.00
R5916:Dchs1 UTSW 7 105759166 missense probably damaging 1.00
R5965:Dchs1 UTSW 7 105755925 missense probably damaging 1.00
R5997:Dchs1 UTSW 7 105754095 missense probably benign 0.08
R6065:Dchs1 UTSW 7 105755421 missense probably damaging 1.00
R6136:Dchs1 UTSW 7 105760925 missense probably benign
R6137:Dchs1 UTSW 7 105765106 missense probably damaging 0.99
R6324:Dchs1 UTSW 7 105764938 missense probably benign 0.05
R6363:Dchs1 UTSW 7 105758472 missense probably benign 0.12
R6466:Dchs1 UTSW 7 105764541 missense probably benign 0.09
R6544:Dchs1 UTSW 7 105758178 missense probably damaging 1.00
R6572:Dchs1 UTSW 7 105758806 missense possibly damaging 0.94
R6579:Dchs1 UTSW 7 105762913 missense probably benign 0.17
R6632:Dchs1 UTSW 7 105761878 missense probably damaging 1.00
R6725:Dchs1 UTSW 7 105758793 missense probably damaging 0.99
R6789:Dchs1 UTSW 7 105757003 missense possibly damaging 0.61
R6868:Dchs1 UTSW 7 105763503 missense possibly damaging 0.91
R7058:Dchs1 UTSW 7 105757021 missense probably benign
R7064:Dchs1 UTSW 7 105763185 missense probably damaging 0.99
R7076:Dchs1 UTSW 7 105761871 missense probably benign 0.04
R7191:Dchs1 UTSW 7 105765439 missense possibly damaging 0.89
R7298:Dchs1 UTSW 7 105755131 nonsense probably null
R7380:Dchs1 UTSW 7 105758628 missense probably benign 0.35
R7438:Dchs1 UTSW 7 105754948 missense probably benign 0.30
R7496:Dchs1 UTSW 7 105761859 missense probably damaging 1.00
R7534:Dchs1 UTSW 7 105772373 missense probably benign 0.00
R7604:Dchs1 UTSW 7 105765982 missense probably damaging 1.00
R7631:Dchs1 UTSW 7 105759238 missense probably benign
Predicted Primers
Posted On2014-01-15