Incidental Mutation 'R1824:Dscam'
ID 206725
Institutional Source Beutler Lab
Gene Symbol Dscam
Ensembl Gene ENSMUSG00000050272
Gene Name DS cell adhesion molecule
Synonyms 4932410A21Rik, Down syndrome cell adhesion molecule
MMRRC Submission 039852-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1824 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 96392040-96971952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 96626781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 376 (V376G)
Ref Sequence ENSEMBL: ENSMUSP00000056040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056102]
AlphaFold Q9ERC8
Predicted Effect probably benign
Transcript: ENSMUST00000056102
AA Change: V376G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
AA Change: V376G

DomainStartEndE-ValueType
IG_like 37 109 1.47e0 SMART
IG 130 218 8.33e-1 SMART
IGc2 237 300 8.7e-13 SMART
IGc2 326 392 1.24e-8 SMART
IGc2 419 491 1.1e-9 SMART
IGc2 516 582 1.99e-7 SMART
IGc2 608 676 1.84e-11 SMART
IGc2 702 773 6.01e-16 SMART
IG 794 883 1.73e-7 SMART
FN3 885 969 7.34e-9 SMART
FN3 985 1073 4.06e-11 SMART
FN3 1088 1174 7.23e-8 SMART
FN3 1189 1270 2.6e-9 SMART
IGc2 1301 1366 2.05e-9 SMART
FN3 1380 1460 7.17e-12 SMART
FN3 1477 1557 4.35e1 SMART
transmembrane domain 1595 1617 N/A INTRINSIC
low complexity region 1799 1809 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.2%
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 immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit background-sensitive perinatal lethality associated with respiratory distress, altered C4 ventral root and pre-inspiratory neuron signaling, and abnormal response to hypercapnia. [provided by MGI curators]
Allele List at MGI

All alleles(9) : Targeted(6) Gene trapped(1) Spontaneous(2)

Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik T C 10: 70,708,086 (GRCm39) noncoding transcript Het
Aadacl2fm1 C A 3: 59,840,001 (GRCm39) Y24* probably null Het
Abl1 T A 2: 31,690,656 (GRCm39) M706K probably benign Het
Abtb1 T C 6: 88,813,536 (GRCm39) T401A probably benign Het
Acd A G 8: 106,427,122 (GRCm39) L96P probably damaging Het
Arsi T A 18: 61,045,369 (GRCm39) W20R probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Asic3 C T 5: 24,618,749 (GRCm39) Q14* probably null Het
Asxl3 T A 18: 22,655,125 (GRCm39) I1045N probably damaging Het
Atr T C 9: 95,818,474 (GRCm39) I2149T probably damaging Het
Begain A G 12: 108,999,025 (GRCm39) probably null Het
Brca2 C T 5: 150,460,387 (GRCm39) T554I possibly damaging Het
Brd10 T C 19: 29,693,814 (GRCm39) N1960S probably damaging Het
C1s2 C T 6: 124,612,641 (GRCm39) V11I probably benign Het
Cacna1i T C 15: 80,260,990 (GRCm39) F1333L possibly damaging Het
Camsap2 T C 1: 136,201,521 (GRCm39) T662A possibly damaging Het
Cep164 C T 9: 45,690,226 (GRCm39) V1367M probably damaging Het
Cfap46 C A 7: 139,219,518 (GRCm39) A1316S probably benign Het
Cic T C 7: 24,987,691 (GRCm39) S553P probably damaging Het
Cilk1 T A 9: 78,065,144 (GRCm39) D351E probably benign Het
Clcn2 C T 16: 20,534,712 (GRCm39) A12T probably benign Het
Clip2 A G 5: 134,532,081 (GRCm39) Y540H probably benign Het
Coil A G 11: 88,872,923 (GRCm39) N428S possibly damaging Het
Cpxm1 A C 2: 130,237,617 (GRCm39) V196G probably damaging Het
Cr2 A G 1: 194,839,624 (GRCm39) V601A probably damaging Het
Cyp3a25 T A 5: 145,921,763 (GRCm39) K390N probably damaging Het
Dclre1a T C 19: 56,535,150 (GRCm39) probably null Het
Dennd4a G C 9: 64,766,640 (GRCm39) probably null Het
Dlg5 T C 14: 24,199,512 (GRCm39) H1464R probably benign Het
Dmac2 T G 7: 25,324,217 (GRCm39) M225R probably damaging Het
Dnah8 T C 17: 30,950,154 (GRCm39) V1991A possibly damaging Het
Dync1li1 A G 9: 114,538,252 (GRCm39) D203G probably benign Het
Eva1c A G 16: 90,663,331 (GRCm39) T22A probably benign Het
Fam110b A G 4: 5,799,029 (GRCm39) D149G probably benign Het
Fras1 A T 5: 96,918,547 (GRCm39) I3528F probably damaging Het
Fsip1 T C 2: 118,063,389 (GRCm39) D360G probably damaging Het
Galnt14 T C 17: 74,016,934 (GRCm39) T41A probably benign Het
Gdf3 T A 6: 122,586,921 (GRCm39) Q2L probably benign Het
Glrp1 A G 1: 88,437,511 (GRCm39) probably null Het
Gm3336 C G 8: 71,173,066 (GRCm39) probably null Het
Gm8674 C T 13: 50,054,844 (GRCm39) noncoding transcript Het
Gnat1 A G 9: 107,553,774 (GRCm39) Y226H probably damaging Het
Grk5 T C 19: 61,078,410 (GRCm39) V489A probably damaging Het
H1f8 A G 6: 115,925,719 (GRCm39) Y1C probably null Het
Igfbpl1 C A 4: 45,826,406 (GRCm39) A130S probably benign Het
Impdh1 T A 6: 29,205,087 (GRCm39) D261V probably benign Het
Itgal T A 7: 126,913,232 (GRCm39) S610T probably damaging Het
Jcad A G 18: 4,649,293 (GRCm39) T55A probably benign Het
Jup G A 11: 100,264,963 (GRCm39) R663* probably null Het
Kalrn C T 16: 34,114,585 (GRCm39) G556D probably damaging Het
Krt81 T C 15: 101,358,020 (GRCm39) E411G probably damaging Het
Lcat T C 8: 106,666,520 (GRCm39) E334G probably damaging Het
Lhcgr T C 17: 89,057,585 (GRCm39) E302G probably benign Het
Magi1 A G 6: 93,676,620 (GRCm39) V913A possibly damaging Het
Mrpl19 A T 6: 81,941,060 (GRCm39) probably null Het
Muc4 G T 16: 32,576,307 (GRCm39) probably benign Het
Mycbp2 A G 14: 103,489,945 (GRCm39) V953A possibly damaging Het
Myo3a G A 2: 22,401,054 (GRCm39) V600I probably benign Het
Ndufv3 G A 17: 31,750,219 (GRCm39) R467Q probably damaging Het
Ngef A G 1: 87,430,986 (GRCm39) probably null Het
Nisch A T 14: 30,898,389 (GRCm39) probably benign Het
Nlrp4c G A 7: 6,069,955 (GRCm39) probably null Het
Nup153 A T 13: 46,867,223 (GRCm39) S154T probably damaging Het
Obscn A G 11: 58,885,658 (GRCm39) probably benign Het
Or2t1 T A 14: 14,328,774 (GRCm38) L221Q probably damaging Het
Or4a74 G T 2: 89,439,693 (GRCm39) P251H probably damaging Het
Or6c219 T C 10: 129,781,206 (GRCm39) M242V possibly damaging Het
Otogl T C 10: 107,615,692 (GRCm39) N1869S probably benign Het
Phf24 G T 4: 42,934,661 (GRCm39) C136F probably damaging Het
Phldb2 A T 16: 45,646,374 (GRCm39) V65E probably benign Het
Pkhd1 C A 1: 20,417,681 (GRCm39) G2490V probably damaging Het
Prl8a8 A T 13: 27,692,433 (GRCm39) M186K probably damaging Het
Qars1 T C 9: 108,391,809 (GRCm39) V70A probably damaging Het
Rac1 C T 5: 143,502,980 (GRCm39) V14I probably benign Het
Rapgef5 T A 12: 117,652,419 (GRCm39) probably null Het
Slc16a12 G A 19: 34,648,278 (GRCm39) T405M possibly damaging Het
Slc17a6 A G 7: 51,311,294 (GRCm39) Y336C probably damaging Het
Slc30a9 T C 5: 67,505,395 (GRCm39) L441P probably damaging Het
Slc45a2 T C 15: 11,022,172 (GRCm39) S305P probably damaging Het
Sod3 G T 5: 52,525,504 (GRCm39) V68L probably benign Het
Sp1 T G 15: 102,339,438 (GRCm39) S773A possibly damaging Het
Spen C A 4: 141,200,096 (GRCm39) G2821C probably damaging Het
Tagap1 A G 17: 7,223,425 (GRCm39) S424P probably benign Het
Tbc1d22a T C 15: 86,119,770 (GRCm39) V22A possibly damaging Het
Tfec C T 6: 16,840,467 (GRCm39) probably null Het
Thsd7a A T 6: 12,409,041 (GRCm39) probably null Het
Tnfsf15 C A 4: 63,651,588 (GRCm39) G112V probably benign Het
Tnfsf9 A G 17: 57,412,738 (GRCm39) T103A probably benign Het
Tnxb C T 17: 34,911,307 (GRCm39) R1537* probably null Het
Tpra1 A G 6: 88,888,805 (GRCm39) N329S probably benign Het
Ttc12 A G 9: 49,368,184 (GRCm39) F281S probably damaging Het
Unc79 A G 12: 103,025,579 (GRCm39) N322S probably damaging Het
Unk G T 11: 115,921,268 (GRCm39) probably benign Het
Usp4 G T 9: 108,225,207 (GRCm39) G31W probably damaging Het
Vcan G T 13: 89,853,331 (GRCm39) A543D possibly damaging Het
Vil1 A C 1: 74,457,606 (GRCm39) I80L probably benign Het
Vmn2r27 C T 6: 124,208,593 (GRCm39) G51S probably benign Het
Vpreb1a A G 16: 16,686,935 (GRCm39) probably null Het
Zbtb6 C T 2: 37,319,829 (GRCm39) C33Y probably damaging Het
Zfp330 A T 8: 83,492,644 (GRCm39) C189* probably null Het
Zfp942 T A 17: 22,147,522 (GRCm39) H369L probably damaging Het
Zfp943 T A 17: 22,211,361 (GRCm39) I149K probably benign Het
Zfyve19 G A 2: 119,042,016 (GRCm39) V162M probably benign Het
Other mutations in Dscam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Dscam APN 16 96,409,265 (GRCm39) missense possibly damaging 0.64
IGL00841:Dscam APN 16 96,621,077 (GRCm39) missense probably damaging 1.00
IGL01289:Dscam APN 16 96,445,082 (GRCm39) nonsense probably null
IGL01358:Dscam APN 16 96,411,543 (GRCm39) missense possibly damaging 0.68
IGL01431:Dscam APN 16 96,453,278 (GRCm39) critical splice donor site probably null
IGL01444:Dscam APN 16 96,474,909 (GRCm39) missense possibly damaging 0.95
IGL01767:Dscam APN 16 96,456,136 (GRCm39) missense probably damaging 1.00
IGL01866:Dscam APN 16 96,486,550 (GRCm39) missense probably benign 0.06
IGL02020:Dscam APN 16 96,517,269 (GRCm39) missense probably damaging 1.00
IGL02023:Dscam APN 16 96,602,397 (GRCm39) missense probably benign 0.06
IGL02057:Dscam APN 16 96,517,273 (GRCm39) nonsense probably null
IGL02389:Dscam APN 16 96,442,097 (GRCm39) missense probably benign 0.27
IGL02409:Dscam APN 16 96,621,088 (GRCm39) missense possibly damaging 0.46
IGL02694:Dscam APN 16 96,394,476 (GRCm39) missense probably benign 0.00
IGL02899:Dscam APN 16 96,510,447 (GRCm39) missense probably damaging 0.98
IGL02956:Dscam APN 16 96,602,472 (GRCm39) missense probably damaging 0.98
IGL03035:Dscam APN 16 96,621,170 (GRCm39) missense possibly damaging 0.94
IGL03191:Dscam APN 16 96,621,969 (GRCm39) missense probably benign 0.36
growler UTSW 16 96,622,197 (GRCm39) missense probably damaging 0.99
Twostep UTSW 16 96,626,982 (GRCm39) splice site probably null
F6893:Dscam UTSW 16 96,857,660 (GRCm39) missense possibly damaging 0.78
K3955:Dscam UTSW 16 96,474,887 (GRCm39) missense probably benign 0.00
R0024:Dscam UTSW 16 96,394,585 (GRCm39) nonsense probably null
R0057:Dscam UTSW 16 96,474,936 (GRCm39) missense probably damaging 1.00
R0057:Dscam UTSW 16 96,474,936 (GRCm39) missense probably damaging 1.00
R0117:Dscam UTSW 16 96,474,878 (GRCm39) missense probably benign 0.33
R0211:Dscam UTSW 16 96,517,279 (GRCm39) missense possibly damaging 0.50
R0280:Dscam UTSW 16 96,840,206 (GRCm39) missense possibly damaging 0.62
R0355:Dscam UTSW 16 96,456,105 (GRCm39) missense probably benign 0.00
R0380:Dscam UTSW 16 96,857,810 (GRCm39) missense probably damaging 1.00
R0445:Dscam UTSW 16 96,573,703 (GRCm39) missense probably damaging 1.00
R0492:Dscam UTSW 16 96,626,982 (GRCm39) splice site probably null
R0534:Dscam UTSW 16 96,453,372 (GRCm39) missense possibly damaging 0.67
R0593:Dscam UTSW 16 96,573,608 (GRCm39) missense probably benign 0.19
R0707:Dscam UTSW 16 96,626,982 (GRCm39) splice site probably null
R0738:Dscam UTSW 16 96,620,981 (GRCm39) missense possibly damaging 0.48
R1017:Dscam UTSW 16 96,634,633 (GRCm39) missense probably damaging 1.00
R1377:Dscam UTSW 16 96,573,694 (GRCm39) missense probably damaging 1.00
R1440:Dscam UTSW 16 96,621,151 (GRCm39) missense probably damaging 1.00
R1442:Dscam UTSW 16 96,409,274 (GRCm39) missense possibly damaging 0.94
R1464:Dscam UTSW 16 96,602,453 (GRCm39) missense possibly damaging 0.94
R1464:Dscam UTSW 16 96,602,453 (GRCm39) missense possibly damaging 0.94
R1478:Dscam UTSW 16 96,592,110 (GRCm39) missense probably benign 0.15
R1530:Dscam UTSW 16 96,621,074 (GRCm39) missense probably damaging 1.00
R1731:Dscam UTSW 16 96,621,076 (GRCm39) missense probably damaging 1.00
R1765:Dscam UTSW 16 96,486,579 (GRCm39) missense probably benign 0.00
R1933:Dscam UTSW 16 96,394,414 (GRCm39) missense probably benign 0.00
R2005:Dscam UTSW 16 96,840,120 (GRCm39) missense probably benign 0.02
R2006:Dscam UTSW 16 96,621,112 (GRCm39) missense probably damaging 1.00
R2101:Dscam UTSW 16 96,411,549 (GRCm39) missense probably benign 0.00
R2177:Dscam UTSW 16 96,411,524 (GRCm39) missense probably damaging 0.98
R2342:Dscam UTSW 16 96,420,702 (GRCm39) missense probably damaging 1.00
R2851:Dscam UTSW 16 96,423,915 (GRCm39) missense possibly damaging 0.94
R2929:Dscam UTSW 16 96,486,612 (GRCm39) missense possibly damaging 0.76
R3055:Dscam UTSW 16 96,602,555 (GRCm39) missense probably damaging 1.00
R3157:Dscam UTSW 16 96,479,710 (GRCm39) missense probably benign 0.16
R3159:Dscam UTSW 16 96,479,710 (GRCm39) missense probably benign 0.16
R3944:Dscam UTSW 16 96,622,197 (GRCm39) missense probably damaging 0.99
R4080:Dscam UTSW 16 96,484,972 (GRCm39) missense probably benign 0.01
R4285:Dscam UTSW 16 96,510,309 (GRCm39) critical splice donor site probably null
R4384:Dscam UTSW 16 96,510,416 (GRCm39) missense probably damaging 0.99
R4460:Dscam UTSW 16 96,411,519 (GRCm39) missense probably damaging 1.00
R4575:Dscam UTSW 16 96,626,823 (GRCm39) missense possibly damaging 0.82
R4594:Dscam UTSW 16 96,519,196 (GRCm39) missense possibly damaging 0.78
R4643:Dscam UTSW 16 96,486,501 (GRCm39) missense probably damaging 0.96
R4698:Dscam UTSW 16 96,411,524 (GRCm39) missense probably damaging 1.00
R4716:Dscam UTSW 16 96,420,771 (GRCm39) missense possibly damaging 0.80
R4743:Dscam UTSW 16 96,631,256 (GRCm39) missense probably benign 0.00
R4766:Dscam UTSW 16 96,445,188 (GRCm39) missense probably benign 0.02
R4899:Dscam UTSW 16 96,485,018 (GRCm39) missense probably benign 0.01
R4987:Dscam UTSW 16 96,498,721 (GRCm39) missense probably benign 0.00
R4990:Dscam UTSW 16 96,626,715 (GRCm39) missense probably benign 0.12
R5123:Dscam UTSW 16 96,573,637 (GRCm39) missense probably damaging 1.00
R5130:Dscam UTSW 16 96,620,979 (GRCm39) missense probably benign 0.00
R5328:Dscam UTSW 16 96,474,878 (GRCm39) missense probably benign 0.33
R5666:Dscam UTSW 16 96,519,364 (GRCm39) missense probably benign 0.23
R5670:Dscam UTSW 16 96,519,364 (GRCm39) missense probably benign 0.23
R5678:Dscam UTSW 16 96,592,100 (GRCm39) missense probably benign 0.16
R5827:Dscam UTSW 16 96,451,191 (GRCm39) critical splice donor site probably null
R5907:Dscam UTSW 16 96,622,120 (GRCm39) missense probably damaging 0.97
R6032:Dscam UTSW 16 96,451,191 (GRCm39) critical splice donor site probably null
R6032:Dscam UTSW 16 96,451,191 (GRCm39) critical splice donor site probably null
R6103:Dscam UTSW 16 96,626,781 (GRCm39) missense probably benign
R6240:Dscam UTSW 16 96,420,702 (GRCm39) missense probably damaging 1.00
R6257:Dscam UTSW 16 96,474,914 (GRCm39) missense possibly damaging 0.94
R6361:Dscam UTSW 16 96,424,011 (GRCm39) missense probably benign 0.08
R6405:Dscam UTSW 16 96,479,625 (GRCm39) missense probably damaging 1.00
R6444:Dscam UTSW 16 96,420,844 (GRCm39) missense probably damaging 1.00
R6560:Dscam UTSW 16 96,626,935 (GRCm39) missense probably benign 0.00
R6598:Dscam UTSW 16 96,620,984 (GRCm39) missense probably damaging 1.00
R6622:Dscam UTSW 16 96,446,273 (GRCm39) missense probably benign 0.06
R6792:Dscam UTSW 16 96,449,437 (GRCm39) missense probably damaging 1.00
R6792:Dscam UTSW 16 96,394,455 (GRCm39) missense probably damaging 0.96
R6827:Dscam UTSW 16 96,840,191 (GRCm39) missense probably damaging 1.00
R6868:Dscam UTSW 16 96,631,140 (GRCm39) missense probably damaging 1.00
R6898:Dscam UTSW 16 96,631,100 (GRCm39) missense probably benign 0.02
R6903:Dscam UTSW 16 96,621,988 (GRCm39) missense probably damaging 1.00
R7051:Dscam UTSW 16 96,620,986 (GRCm39) missense probably benign 0.01
R7146:Dscam UTSW 16 96,631,117 (GRCm39) nonsense probably null
R7180:Dscam UTSW 16 96,626,764 (GRCm39) missense probably damaging 0.97
R7209:Dscam UTSW 16 96,451,544 (GRCm39) splice site probably null
R7247:Dscam UTSW 16 96,622,008 (GRCm39) missense probably damaging 0.99
R7269:Dscam UTSW 16 96,479,601 (GRCm39) missense probably benign 0.00
R7301:Dscam UTSW 16 96,857,732 (GRCm39) missense probably benign 0.01
R7328:Dscam UTSW 16 96,446,235 (GRCm39) nonsense probably null
R7368:Dscam UTSW 16 96,445,131 (GRCm39) missense probably benign 0.00
R7425:Dscam UTSW 16 96,430,598 (GRCm39) missense probably damaging 1.00
R7474:Dscam UTSW 16 96,621,089 (GRCm39) missense possibly damaging 0.88
R7536:Dscam UTSW 16 96,442,226 (GRCm39) splice site probably null
R7624:Dscam UTSW 16 96,411,524 (GRCm39) missense probably damaging 1.00
R7766:Dscam UTSW 16 96,592,101 (GRCm39) missense probably benign 0.31
R7817:Dscam UTSW 16 96,442,064 (GRCm39) missense probably benign
R7843:Dscam UTSW 16 96,626,830 (GRCm39) missense probably damaging 0.99
R7911:Dscam UTSW 16 96,445,122 (GRCm39) missense probably benign 0.01
R8108:Dscam UTSW 16 96,445,079 (GRCm39) missense probably benign 0.01
R8128:Dscam UTSW 16 96,602,374 (GRCm39) splice site probably null
R8770:Dscam UTSW 16 96,456,106 (GRCm39) missense possibly damaging 0.50
R8876:Dscam UTSW 16 96,420,828 (GRCm39) missense probably damaging 0.96
R9005:Dscam UTSW 16 96,602,580 (GRCm39) missense probably damaging 1.00
R9009:Dscam UTSW 16 96,840,116 (GRCm39) missense probably benign 0.10
R9168:Dscam UTSW 16 96,420,768 (GRCm39) missense possibly damaging 0.82
R9176:Dscam UTSW 16 96,486,553 (GRCm39) missense probably benign 0.37
R9244:Dscam UTSW 16 96,486,429 (GRCm39) missense possibly damaging 0.62
R9339:Dscam UTSW 16 96,517,263 (GRCm39) missense possibly damaging 0.89
R9374:Dscam UTSW 16 96,857,857 (GRCm39) missense probably benign 0.19
R9385:Dscam UTSW 16 96,840,203 (GRCm39) missense probably benign
R9674:Dscam UTSW 16 96,442,036 (GRCm39) missense probably benign 0.03
X0025:Dscam UTSW 16 96,510,361 (GRCm39) missense probably damaging 1.00
Z1088:Dscam UTSW 16 96,573,761 (GRCm39) missense probably benign 0.01
Z1177:Dscam UTSW 16 96,409,389 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGAGTGACTCTGCATGGCTC -3'
(R):5'- TTTCAACAGTGTCAATACCTTGTGG -3'

Sequencing Primer
(F):5'- GTGACTCTGCATGGCTCTCTCC -3'
(R):5'- TATTTAACTCCCCAGAGCCACTG -3'
Posted On 2014-06-23