Incidental Mutation 'R4716:Dscam'
ID 354080
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 041983-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4716 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 96392040-96971952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 96420771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 1705 (T1705K)
Ref Sequence ENSEMBL: ENSMUSP00000056040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056102]
AlphaFold Q9ERC8
Predicted Effect possibly damaging
Transcript: ENSMUST00000056102
AA Change: T1705K

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
AA Change: T1705K

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,471,088 (GRCm39) R578* probably null Het
Adam8 T A 7: 139,563,851 (GRCm39) D717V probably benign Het
Aknad1 T C 3: 108,682,417 (GRCm39) probably null Het
Alk A T 17: 72,512,937 (GRCm39) W341R probably damaging Het
Ankdd1b G A 13: 96,591,091 (GRCm39) Q101* probably null Het
Anpep A C 7: 79,476,380 (GRCm39) S829A probably benign Het
Armh3 A G 19: 45,948,781 (GRCm39) S233P probably damaging Het
Ate1 A T 7: 130,115,511 (GRCm39) C72S probably damaging Het
Atp6v0a4 G A 6: 38,037,999 (GRCm39) L533F probably damaging Het
Bach1 T C 16: 87,512,267 (GRCm39) probably benign Het
Baz2b T C 2: 59,799,599 (GRCm39) D240G probably benign Het
Cdc14b C T 13: 64,357,014 (GRCm39) S21N probably damaging Het
Cdh3 A G 8: 107,270,520 (GRCm39) I466V probably benign Het
Cog1 A G 11: 113,547,923 (GRCm39) E137G probably damaging Het
Col4a2 A G 8: 11,452,224 (GRCm39) D180G probably damaging Het
Cyp2c40 A T 19: 39,791,105 (GRCm39) probably null Het
Dclk2 C T 3: 86,827,188 (GRCm39) R97H probably damaging Het
Ddx52 T C 11: 83,846,031 (GRCm39) probably null Het
Dhx58 C T 11: 100,587,797 (GRCm39) probably null Het
Dmp1 T A 5: 104,360,427 (GRCm39) S368T probably damaging Het
Dnah17 C A 11: 117,964,474 (GRCm39) V2435L probably benign Het
Dnajc7 A G 11: 100,510,402 (GRCm39) V10A probably benign Het
Dscaml1 G A 9: 45,361,890 (GRCm39) V217M probably damaging Het
Dync2h1 A G 9: 7,142,648 (GRCm39) probably null Het
F5 A G 1: 164,021,488 (GRCm39) D1321G probably damaging Het
Fam174a C T 1: 95,241,770 (GRCm39) P77S probably benign Het
Fars2 G A 13: 36,389,051 (GRCm39) R180H probably damaging Het
Fnbp1 T C 2: 30,945,532 (GRCm39) T154A probably benign Het
Fsip2 T A 2: 82,805,203 (GRCm39) N507K probably damaging Het
Glg1 G T 8: 111,887,407 (GRCm39) Y449* probably null Het
Gm15130 A T 2: 110,964,560 (GRCm39) Y187* probably null Het
Gm973 A T 1: 59,591,713 (GRCm39) K366* probably null Het
H2bc11 T A 13: 22,227,533 (GRCm39) V45E possibly damaging Het
Hao1 A G 2: 134,347,540 (GRCm39) I255T probably damaging Het
Herc6 T A 6: 57,575,423 (GRCm39) V148E probably damaging Het
Insm2 T A 12: 55,647,677 (GRCm39) C474S possibly damaging Het
Itch T C 2: 155,052,502 (GRCm39) probably null Het
Itga2 A G 13: 114,993,909 (GRCm39) V748A probably damaging Het
Itga9 T A 9: 118,510,826 (GRCm39) S452T probably damaging Het
Kdm4b C A 17: 56,693,178 (GRCm39) D338E probably benign Het
Krt40 G A 11: 99,431,045 (GRCm39) R155C probably damaging Het
Krtap16-1 A G 11: 99,876,000 (GRCm39) V468A probably damaging Het
Lactb2 G A 1: 13,708,619 (GRCm39) P143L probably damaging Het
Lrba C A 3: 86,550,021 (GRCm39) T2330K probably damaging Het
Lrp2bp A T 8: 46,466,208 (GRCm39) I106F probably benign Het
Luzp2 A G 7: 54,485,710 (GRCm39) K2E probably damaging Het
Lypd6 T C 2: 50,078,855 (GRCm39) probably null Het
Maml1 A T 11: 50,148,694 (GRCm39) D1015E probably benign Het
Mdfi T G 17: 48,131,906 (GRCm39) D106A possibly damaging Het
Olfm3 T C 3: 114,874,755 (GRCm39) M17T probably benign Het
Or2n1d A C 17: 38,646,731 (GRCm39) I228L possibly damaging Het
Or2o1 A G 11: 49,051,717 (GRCm39) Y292C probably damaging Het
Or8c16 T A 9: 38,130,714 (GRCm39) N198K probably damaging Het
Or8g30 A G 9: 39,230,725 (GRCm39) F62L probably benign Het
Otud7b T G 3: 96,058,227 (GRCm39) L261V probably damaging Het
P2ry1 A G 3: 60,910,893 (GRCm39) N11D probably damaging Het
Pate2 T C 9: 35,596,978 (GRCm39) probably benign Het
Pcdhb16 A T 18: 37,612,458 (GRCm39) T473S probably benign Het
Per1 A G 11: 68,992,057 (GRCm39) E137G probably damaging Het
Phf11d T C 14: 59,590,791 (GRCm39) T189A probably benign Het
Pik3r5 C A 11: 68,386,030 (GRCm39) S738R possibly damaging Het
Pikfyve A G 1: 65,285,635 (GRCm39) Y913C possibly damaging Het
Pkd1 T G 17: 24,795,107 (GRCm39) S2265A probably damaging Het
Pkhd1l1 C A 15: 44,419,428 (GRCm39) N2964K probably damaging Het
Plch1 T G 3: 63,688,967 (GRCm39) D79A probably damaging Het
Pnliprp1 A C 19: 58,728,901 (GRCm39) T363P possibly damaging Het
Ppp1r10 T A 17: 36,240,352 (GRCm39) D547E probably benign Het
Prkdc T A 16: 15,628,701 (GRCm39) I3482K probably benign Het
Ptpn4 A G 1: 119,649,598 (GRCm39) Y333H probably damaging Het
Ptpru T A 4: 131,548,279 (GRCm39) M73L probably benign Het
Rrp12 A G 19: 41,865,867 (GRCm39) Y698H probably damaging Het
Scaf8 T C 17: 3,227,398 (GRCm39) F338L unknown Het
Slc17a1 G T 13: 24,064,576 (GRCm39) V347L probably benign Het
Slc1a2 T A 2: 102,578,883 (GRCm39) V263E probably damaging Het
Slc29a4 T C 5: 142,704,327 (GRCm39) V327A probably benign Het
Slc6a3 A C 13: 73,705,195 (GRCm39) I229L probably benign Het
Sos2 T C 12: 69,654,145 (GRCm39) I703V probably benign Het
Srpk1 T C 17: 28,840,982 (GRCm39) T15A probably benign Het
St6gal2 A T 17: 55,817,367 (GRCm39) Q510L probably benign Het
Stk24 T C 14: 121,532,130 (GRCm39) D289G possibly damaging Het
Taf2 T G 15: 54,929,364 (GRCm39) K64T probably benign Het
Tbx3 A G 5: 119,813,735 (GRCm39) E257G possibly damaging Het
Tmem102 A T 11: 69,695,022 (GRCm39) F317I probably damaging Het
Trav10 A G 14: 53,743,497 (GRCm39) S33G possibly damaging Het
Ttn T A 2: 76,745,408 (GRCm39) I5214F probably damaging Het
Ube2f T A 1: 91,182,002 (GRCm39) L2Q probably damaging Het
Ube4b A G 4: 149,429,069 (GRCm39) F857L probably damaging Het
Vmn2r18 T A 5: 151,485,602 (GRCm39) I631F possibly damaging Het
Zfp280d T A 9: 72,219,947 (GRCm39) S241T possibly damaging Het
Zfp638 T A 6: 83,956,544 (GRCm39) L1717* probably null Het
Zfp719 A G 7: 43,240,535 (GRCm39) N708D possibly damaging 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
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'- CATCACATCTATTGCATTGGTGTG -3'
(R):5'- TGTTTTCACAAGAAGCCGAGC -3'

Sequencing Primer
(F):5'- TGTGTGATTGAGAAAGCCCAACC -3'
(R):5'- AGAAGCCGAGCCTCTCTATCTG -3'
Posted On 2015-10-21