Incidental Mutation 'R7051:Dscam'
ID 547623
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 045148-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7051 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 96392040-96971952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 96620986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 574 (T574M)
Ref Sequence ENSEMBL: ENSMUSP00000056040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056102]
AlphaFold Q9ERC8
Predicted Effect probably benign
Transcript: ENSMUST00000056102
AA Change: T574M

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
AA Change: T574M

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 95% (80/84)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5930422O12Rik C T 8: 33,919,201 (GRCm39) S7L unknown Het
Aggf1 T C 13: 95,488,125 (GRCm39) K674R possibly damaging Het
Ampd1 T C 3: 102,997,389 (GRCm39) F264L probably damaging Het
Ankle1 A T 8: 71,860,387 (GRCm39) S302C probably damaging Het
Ankrd17 G A 5: 90,514,310 (GRCm39) probably benign Het
Arhgap18 T A 10: 26,725,917 (GRCm39) N47K possibly damaging Het
Atp5pb T C 3: 105,851,083 (GRCm39) N205D probably benign Het
Atp8b3 C T 10: 80,355,858 (GRCm39) E1285K probably benign Het
Atp8b3 C A 10: 80,365,552 (GRCm39) V401L probably damaging Het
Cacna1a G A 8: 85,356,544 (GRCm39) R1929Q possibly damaging Het
Cadm2 C T 16: 66,679,767 (GRCm39) S22N possibly damaging Het
Ccdc177 C T 12: 80,805,927 (GRCm39) V116M probably damaging Het
Cdhr18 A G 14: 13,828,486 (GRCm38) V758A Het
Cdkl2 A T 5: 92,181,084 (GRCm39) I185N probably damaging Het
Cfhr2 T A 1: 139,738,716 (GRCm39) I282L probably benign Het
Clns1a T A 7: 97,361,824 (GRCm39) probably null Het
Commd2 A T 3: 57,554,107 (GRCm39) I198N probably damaging Het
Creb3l2 C T 6: 37,313,200 (GRCm39) V365I possibly damaging Het
Dcaf6 A T 1: 165,251,886 (GRCm39) N79K possibly damaging Het
Dlg5 T C 14: 24,196,263 (GRCm39) N1622D possibly damaging Het
Dock7 C T 4: 98,834,969 (GRCm39) R1802H probably damaging Het
Dpy19l2 T C 9: 24,495,789 (GRCm39) K643R probably benign Het
Fam209 A G 2: 172,315,969 (GRCm39) T115A probably damaging Het
Fastkd5 C T 2: 130,456,337 (GRCm39) C751Y probably damaging Het
Fat3 C A 9: 16,289,123 (GRCm39) L133F probably damaging Het
Fcsk A T 8: 111,616,971 (GRCm39) I393N probably damaging Het
Frmd6 T C 12: 70,944,170 (GRCm39) V516A possibly damaging Het
Fry G A 5: 150,318,634 (GRCm39) D955N possibly damaging Het
Gm7298 T C 6: 121,751,993 (GRCm39) probably null Het
Golga7b T A 19: 42,256,899 (GRCm39) *168R probably null Het
Golim4 T A 3: 75,800,309 (GRCm39) Q395L probably benign Het
Gxylt2 T A 6: 100,781,537 (GRCm39) L404* probably null Het
H1f4 A G 13: 23,806,422 (GRCm39) V20A probably benign Het
Ighmbp2 G T 19: 3,311,462 (GRCm39) S984R probably damaging Het
Irf8 C T 8: 121,466,581 (GRCm39) R9W probably damaging Het
Itga4 T C 2: 79,148,470 (GRCm39) V788A possibly damaging Het
Kifap3 G A 1: 163,621,649 (GRCm39) R99H probably damaging Het
Kiss1r T C 10: 79,754,688 (GRCm39) S61P probably damaging Het
Krtap6-1 A T 16: 88,828,606 (GRCm39) M1L unknown Het
Large2 A T 2: 92,197,367 (GRCm39) M411K probably damaging Het
Lcor A G 19: 41,574,191 (GRCm39) D982G probably benign Het
Lingo1 A G 9: 56,527,467 (GRCm39) V374A probably benign Het
Lrch1 A G 14: 75,022,962 (GRCm39) V637A probably damaging Het
Lyar T C 5: 38,382,024 (GRCm39) V2A probably damaging Het
Nell1 C T 7: 50,098,592 (GRCm39) S298L unknown Het
Ogfod3 T A 11: 121,086,031 (GRCm39) I188F probably damaging Het
Opa3 C A 7: 18,978,961 (GRCm39) A142E possibly damaging Het
Or5b123 T A 19: 13,596,769 (GRCm39) M81K possibly damaging Het
Or5k1 T C 16: 58,617,538 (GRCm39) T224A probably benign Het
Pald1 T C 10: 61,159,125 (GRCm39) R769G probably benign Het
Pappa2 T A 1: 158,784,753 (GRCm39) T86S unknown Het
Papss1 T C 3: 131,307,811 (GRCm39) Y266H probably damaging Het
Pcdhga7 C A 18: 37,849,994 (GRCm39) A667D probably damaging Het
Pcsk5 T A 19: 17,411,095 (GRCm39) T1766S probably benign Het
Pds5b T A 5: 150,717,747 (GRCm39) N1129K possibly damaging Het
Pop7 T C 5: 137,499,952 (GRCm39) N127S probably damaging Het
Ppfibp2 A G 7: 107,316,925 (GRCm39) E300G probably damaging Het
Ppp4r3b A G 11: 29,132,507 (GRCm39) K87E probably damaging Het
Psmd3 T A 11: 98,573,659 (GRCm39) M35K possibly damaging Het
Pus7 A G 5: 23,980,677 (GRCm39) V191A probably damaging Het
Rptor C T 11: 119,765,012 (GRCm39) probably benign Het
Sacs A G 14: 61,446,377 (GRCm39) M2808V probably benign Het
Scube3 G A 17: 28,386,573 (GRCm39) V831I probably benign Het
Sin3a A T 9: 57,011,218 (GRCm39) N492Y probably damaging Het
Slc12a3 A G 8: 95,092,572 (GRCm39) T998A probably damaging Het
Slc4a1 T C 11: 102,247,084 (GRCm39) N501S probably benign Het
Sltm G A 9: 70,466,348 (GRCm39) G94R probably damaging Het
Smc4 T A 3: 68,934,835 (GRCm39) W650R probably damaging Het
Smg7 A G 1: 152,724,601 (GRCm39) S527P probably damaging Het
Tcf20 T C 15: 82,740,279 (GRCm39) N391D probably damaging Het
Tiam2 G A 17: 3,498,758 (GRCm39) V845M probably damaging Het
Tln2 A G 9: 67,253,699 (GRCm39) F793L probably benign Het
Uckl1 T C 2: 181,216,037 (GRCm39) I193V probably damaging Het
Ugt1a5 A G 1: 88,094,077 (GRCm39) M102V probably benign Het
Usp38 G A 8: 81,727,750 (GRCm39) P328S possibly damaging Het
Vmn1r189 A G 13: 22,286,285 (GRCm39) V184A possibly damaging Het
Vps13d C A 4: 144,889,914 (GRCm39) A597S probably benign Het
Wdr47 T A 3: 108,525,840 (GRCm39) L121Q probably damaging Het
Wiz A G 17: 32,580,507 (GRCm39) S315P probably damaging Het
Zc3h13 T C 14: 75,568,597 (GRCm39) S1297P probably damaging Het
Zfp27 AATCCGCTTGTGCA AA 7: 29,594,446 (GRCm39) 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
R1824:Dscam UTSW 16 96,626,781 (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
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'- TATCAAGTTCAAGTCCTCTGAGG -3'
(R):5'- CGTGACACGTACATCCACTG -3'

Sequencing Primer
(F):5'- CCTCTGAGGACCCAGGATTTTATAG -3'
(R):5'- ATCCACTGCCGCGTAATTGG -3'
Posted On 2019-05-13