Incidental Mutation 'R4384:Dscam'
ID 326137
Institutional Source Beutler Lab
Gene Symbol Dscam
Ensembl Gene ENSMUSG00000050272
Gene Name DS cell adhesion molecule
Synonyms 4932410A21Rik
MMRRC Submission 042002-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4384 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 96592079-97170752 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96709216 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 948 (I948F)
Ref Sequence ENSEMBL: ENSMUSP00000056040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056102]
AlphaFold Q9ERC8
Predicted Effect probably damaging
Transcript: ENSMUST00000056102
AA Change: I948F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
AA Change: I948F

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
Meta Mutation Damage Score 0.2448 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 97% (56/58)
MGI Phenotype Strain: 4830358; 3840666;5305025;3761008
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer2 T A 4: 86,874,568 (GRCm38) V27E possibly damaging Het
Adam23 T C 1: 63,566,628 (GRCm38) Y624H probably damaging Het
Arhgef10 T A 8: 14,930,157 (GRCm38) C132* probably null Het
Boc A T 16: 44,491,182 (GRCm38) L726H probably damaging Het
Brip1 A T 11: 86,148,429 (GRCm38) D426E possibly damaging Het
Cadps2 T A 6: 23,412,988 (GRCm38) Q654L probably benign Het
Calr3 T A 8: 72,428,164 (GRCm38) D120V probably damaging Het
Cntnap3 A G 13: 64,748,460 (GRCm38) Y1067H probably damaging Het
Csnk1g1 T C 9: 66,019,908 (GRCm38) V119A probably damaging Het
Ddias G A 7: 92,858,223 (GRCm38) T828I probably damaging Het
Dennd4c A G 4: 86,811,450 (GRCm38) Y763C probably damaging Het
E030018B13Rik A G 7: 63,919,393 (GRCm38) probably benign Het
E2f8 G A 7: 48,867,099 (GRCm38) T844I possibly damaging Het
Eps8 T A 6: 137,499,592 (GRCm38) H603L probably benign Het
Esrrg G A 1: 188,043,711 (GRCm38) C122Y probably damaging Het
Frmd4a C T 2: 4,594,563 (GRCm38) R467* probably null Het
Gad2 G A 2: 22,685,410 (GRCm38) V509I probably benign Het
Gpat4 A G 8: 23,174,586 (GRCm38) I446T probably benign Het
Klhl12 T G 1: 134,487,654 (GRCm38) D435E probably damaging Het
Luc7l T C 17: 26,279,962 (GRCm38) probably benign Het
Marchf2 C A 17: 33,696,193 (GRCm38) M142I probably benign Het
Marf1 T A 16: 14,142,641 (GRCm38) Y513F possibly damaging Het
Mdm2 T C 10: 117,696,439 (GRCm38) D114G possibly damaging Het
Med1 G A 11: 98,152,862 (GRCm38) probably benign Het
Meikin C T 11: 54,417,787 (GRCm38) Q404* probably null Het
Myh9 A T 15: 77,791,712 (GRCm38) probably benign Het
Mylip T C 13: 45,389,958 (GRCm38) M1T probably null Het
Ncapg2 T C 12: 116,439,877 (GRCm38) probably null Het
Nmd3 T C 3: 69,724,398 (GRCm38) probably benign Het
Nwd2 T A 5: 63,806,571 (GRCm38) L1166H probably damaging Het
Or1j13 A G 2: 36,479,998 (GRCm38) L44P probably damaging Het
Or8b48 T C 9: 38,582,053 (GRCm38) Y259H probably damaging Het
Rubcn A G 16: 32,856,902 (GRCm38) I71T probably damaging Het
Rwdd3 T C 3: 121,158,757 (GRCm38) probably benign Het
Ryr2 T C 13: 11,605,233 (GRCm38) E3826G probably damaging Het
Sdad1 T C 5: 92,298,257 (GRCm38) Q273R probably benign Het
Sdha A T 13: 74,326,985 (GRCm38) I579K possibly damaging Het
Sema4d A G 13: 51,702,883 (GRCm38) L771P probably damaging Het
Shroom3 G T 5: 92,943,086 (GRCm38) V1151F probably damaging Het
Slc6a11 A G 6: 114,247,727 (GRCm38) E624G possibly damaging Het
Tada3 G T 6: 113,370,379 (GRCm38) R117S probably damaging Het
Tm9sf3 T C 19: 41,247,933 (GRCm38) M130V probably damaging Het
Trpc1 C A 9: 95,732,108 (GRCm38) M34I probably benign Het
Trpc4ap A G 2: 155,640,507 (GRCm38) V521A possibly damaging Het
Trpm2 A G 10: 77,917,725 (GRCm38) V1315A probably benign Het
Tvp23a A G 16: 10,428,682 (GRCm38) S80P probably benign Het
Usp54 A T 14: 20,550,085 (GRCm38) probably null Het
Vmn2r27 A G 6: 124,224,156 (GRCm38) Y281H probably benign Het
Vwf T A 6: 125,655,116 (GRCm38) I37N unknown Het
Zfp329 G A 7: 12,811,657 (GRCm38) probably benign Het
Zfp616 G T 11: 74,083,179 (GRCm38) L91F possibly damaging Het
Other mutations in Dscam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Dscam APN 16 96,608,065 (GRCm38) missense possibly damaging 0.64
IGL00841:Dscam APN 16 96,819,877 (GRCm38) missense probably damaging 1.00
IGL01289:Dscam APN 16 96,643,882 (GRCm38) nonsense probably null
IGL01358:Dscam APN 16 96,610,343 (GRCm38) missense possibly damaging 0.68
IGL01431:Dscam APN 16 96,652,078 (GRCm38) critical splice donor site probably null
IGL01444:Dscam APN 16 96,673,709 (GRCm38) missense possibly damaging 0.95
IGL01767:Dscam APN 16 96,654,936 (GRCm38) missense probably damaging 1.00
IGL01866:Dscam APN 16 96,685,350 (GRCm38) missense probably benign 0.06
IGL02020:Dscam APN 16 96,716,069 (GRCm38) missense probably damaging 1.00
IGL02023:Dscam APN 16 96,801,197 (GRCm38) missense probably benign 0.06
IGL02057:Dscam APN 16 96,716,073 (GRCm38) nonsense probably null
IGL02389:Dscam APN 16 96,640,897 (GRCm38) missense probably benign 0.27
IGL02409:Dscam APN 16 96,819,888 (GRCm38) missense possibly damaging 0.46
IGL02694:Dscam APN 16 96,593,276 (GRCm38) missense probably benign 0.00
IGL02899:Dscam APN 16 96,709,247 (GRCm38) missense probably damaging 0.98
IGL02956:Dscam APN 16 96,801,272 (GRCm38) missense probably damaging 0.98
IGL03035:Dscam APN 16 96,819,970 (GRCm38) missense possibly damaging 0.94
IGL03191:Dscam APN 16 96,820,769 (GRCm38) missense probably benign 0.36
growler UTSW 16 96,820,997 (GRCm38) missense probably damaging 0.99
Twostep UTSW 16 96,825,782 (GRCm38) splice site probably null
F6893:Dscam UTSW 16 97,056,460 (GRCm38) missense possibly damaging 0.78
K3955:Dscam UTSW 16 96,673,687 (GRCm38) missense probably benign 0.00
R0024:Dscam UTSW 16 96,593,385 (GRCm38) nonsense probably null
R0057:Dscam UTSW 16 96,673,736 (GRCm38) missense probably damaging 1.00
R0057:Dscam UTSW 16 96,673,736 (GRCm38) missense probably damaging 1.00
R0117:Dscam UTSW 16 96,673,678 (GRCm38) missense probably benign 0.33
R0211:Dscam UTSW 16 96,716,079 (GRCm38) missense possibly damaging 0.50
R0280:Dscam UTSW 16 97,039,006 (GRCm38) missense possibly damaging 0.62
R0355:Dscam UTSW 16 96,654,905 (GRCm38) missense probably benign 0.00
R0380:Dscam UTSW 16 97,056,610 (GRCm38) missense probably damaging 1.00
R0445:Dscam UTSW 16 96,772,503 (GRCm38) missense probably damaging 1.00
R0492:Dscam UTSW 16 96,825,782 (GRCm38) splice site probably null
R0534:Dscam UTSW 16 96,652,172 (GRCm38) missense possibly damaging 0.67
R0593:Dscam UTSW 16 96,772,408 (GRCm38) missense probably benign 0.19
R0707:Dscam UTSW 16 96,825,782 (GRCm38) splice site probably null
R0738:Dscam UTSW 16 96,819,781 (GRCm38) missense possibly damaging 0.48
R1017:Dscam UTSW 16 96,833,433 (GRCm38) missense probably damaging 1.00
R1377:Dscam UTSW 16 96,772,494 (GRCm38) missense probably damaging 1.00
R1440:Dscam UTSW 16 96,819,951 (GRCm38) missense probably damaging 1.00
R1442:Dscam UTSW 16 96,608,074 (GRCm38) missense possibly damaging 0.94
R1464:Dscam UTSW 16 96,801,253 (GRCm38) missense possibly damaging 0.94
R1464:Dscam UTSW 16 96,801,253 (GRCm38) missense possibly damaging 0.94
R1478:Dscam UTSW 16 96,790,910 (GRCm38) missense probably benign 0.15
R1530:Dscam UTSW 16 96,819,874 (GRCm38) missense probably damaging 1.00
R1731:Dscam UTSW 16 96,819,876 (GRCm38) missense probably damaging 1.00
R1765:Dscam UTSW 16 96,685,379 (GRCm38) missense probably benign 0.00
R1824:Dscam UTSW 16 96,825,581 (GRCm38) missense probably benign 0.00
R1933:Dscam UTSW 16 96,593,214 (GRCm38) missense probably benign 0.00
R2005:Dscam UTSW 16 97,038,920 (GRCm38) missense probably benign 0.02
R2006:Dscam UTSW 16 96,819,912 (GRCm38) missense probably damaging 1.00
R2101:Dscam UTSW 16 96,610,349 (GRCm38) missense probably benign 0.00
R2177:Dscam UTSW 16 96,610,324 (GRCm38) missense probably damaging 0.98
R2342:Dscam UTSW 16 96,619,502 (GRCm38) missense probably damaging 1.00
R2851:Dscam UTSW 16 96,622,715 (GRCm38) missense possibly damaging 0.94
R2929:Dscam UTSW 16 96,685,412 (GRCm38) missense possibly damaging 0.76
R3055:Dscam UTSW 16 96,801,355 (GRCm38) missense probably damaging 1.00
R3157:Dscam UTSW 16 96,678,510 (GRCm38) missense probably benign 0.16
R3159:Dscam UTSW 16 96,678,510 (GRCm38) missense probably benign 0.16
R3944:Dscam UTSW 16 96,820,997 (GRCm38) missense probably damaging 0.99
R4080:Dscam UTSW 16 96,683,772 (GRCm38) missense probably benign 0.01
R4285:Dscam UTSW 16 96,709,109 (GRCm38) critical splice donor site probably null
R4460:Dscam UTSW 16 96,610,319 (GRCm38) missense probably damaging 1.00
R4575:Dscam UTSW 16 96,825,623 (GRCm38) missense possibly damaging 0.82
R4594:Dscam UTSW 16 96,717,996 (GRCm38) missense possibly damaging 0.78
R4643:Dscam UTSW 16 96,685,301 (GRCm38) missense probably damaging 0.96
R4698:Dscam UTSW 16 96,610,324 (GRCm38) missense probably damaging 1.00
R4716:Dscam UTSW 16 96,619,571 (GRCm38) missense possibly damaging 0.80
R4743:Dscam UTSW 16 96,830,056 (GRCm38) missense probably benign 0.00
R4766:Dscam UTSW 16 96,643,988 (GRCm38) missense probably benign 0.02
R4899:Dscam UTSW 16 96,683,818 (GRCm38) missense probably benign 0.01
R4987:Dscam UTSW 16 96,697,521 (GRCm38) missense probably benign 0.00
R4990:Dscam UTSW 16 96,825,515 (GRCm38) missense probably benign 0.12
R5123:Dscam UTSW 16 96,772,437 (GRCm38) missense probably damaging 1.00
R5130:Dscam UTSW 16 96,819,779 (GRCm38) missense probably benign 0.00
R5328:Dscam UTSW 16 96,673,678 (GRCm38) missense probably benign 0.33
R5666:Dscam UTSW 16 96,718,164 (GRCm38) missense probably benign 0.23
R5670:Dscam UTSW 16 96,718,164 (GRCm38) missense probably benign 0.23
R5678:Dscam UTSW 16 96,790,900 (GRCm38) missense probably benign 0.16
R5827:Dscam UTSW 16 96,649,991 (GRCm38) critical splice donor site probably null
R5907:Dscam UTSW 16 96,820,920 (GRCm38) missense probably damaging 0.97
R6032:Dscam UTSW 16 96,649,991 (GRCm38) critical splice donor site probably null
R6032:Dscam UTSW 16 96,649,991 (GRCm38) critical splice donor site probably null
R6103:Dscam UTSW 16 96,825,581 (GRCm38) missense probably benign
R6240:Dscam UTSW 16 96,619,502 (GRCm38) missense probably damaging 1.00
R6257:Dscam UTSW 16 96,673,714 (GRCm38) missense possibly damaging 0.94
R6361:Dscam UTSW 16 96,622,811 (GRCm38) missense probably benign 0.08
R6405:Dscam UTSW 16 96,678,425 (GRCm38) missense probably damaging 1.00
R6444:Dscam UTSW 16 96,619,644 (GRCm38) missense probably damaging 1.00
R6560:Dscam UTSW 16 96,825,735 (GRCm38) missense probably benign 0.00
R6598:Dscam UTSW 16 96,819,784 (GRCm38) missense probably damaging 1.00
R6622:Dscam UTSW 16 96,645,073 (GRCm38) missense probably benign 0.06
R6792:Dscam UTSW 16 96,648,237 (GRCm38) missense probably damaging 1.00
R6792:Dscam UTSW 16 96,593,255 (GRCm38) missense probably damaging 0.96
R6827:Dscam UTSW 16 97,038,991 (GRCm38) missense probably damaging 1.00
R6868:Dscam UTSW 16 96,829,940 (GRCm38) missense probably damaging 1.00
R6898:Dscam UTSW 16 96,829,900 (GRCm38) missense probably benign 0.02
R6903:Dscam UTSW 16 96,820,788 (GRCm38) missense probably damaging 1.00
R7051:Dscam UTSW 16 96,819,786 (GRCm38) missense probably benign 0.01
R7146:Dscam UTSW 16 96,829,917 (GRCm38) nonsense probably null
R7180:Dscam UTSW 16 96,825,564 (GRCm38) missense probably damaging 0.97
R7209:Dscam UTSW 16 96,650,344 (GRCm38) splice site probably null
R7247:Dscam UTSW 16 96,820,808 (GRCm38) missense probably damaging 0.99
R7269:Dscam UTSW 16 96,678,401 (GRCm38) missense probably benign 0.00
R7301:Dscam UTSW 16 97,056,532 (GRCm38) missense probably benign 0.01
R7328:Dscam UTSW 16 96,645,035 (GRCm38) nonsense probably null
R7368:Dscam UTSW 16 96,643,931 (GRCm38) missense probably benign 0.00
R7425:Dscam UTSW 16 96,629,398 (GRCm38) missense probably damaging 1.00
R7474:Dscam UTSW 16 96,819,889 (GRCm38) missense possibly damaging 0.88
R7536:Dscam UTSW 16 96,641,026 (GRCm38) splice site probably null
R7624:Dscam UTSW 16 96,610,324 (GRCm38) missense probably damaging 1.00
R7766:Dscam UTSW 16 96,790,901 (GRCm38) missense probably benign 0.31
R7817:Dscam UTSW 16 96,640,864 (GRCm38) missense probably benign
R7843:Dscam UTSW 16 96,825,630 (GRCm38) missense probably damaging 0.99
R7911:Dscam UTSW 16 96,643,922 (GRCm38) missense probably benign 0.01
R8108:Dscam UTSW 16 96,643,879 (GRCm38) missense probably benign 0.01
R8128:Dscam UTSW 16 96,801,174 (GRCm38) splice site probably null
R8770:Dscam UTSW 16 96,654,906 (GRCm38) missense possibly damaging 0.50
R8876:Dscam UTSW 16 96,619,628 (GRCm38) missense probably damaging 0.96
R9005:Dscam UTSW 16 96,801,380 (GRCm38) missense probably damaging 1.00
R9009:Dscam UTSW 16 97,038,916 (GRCm38) missense probably benign 0.10
R9168:Dscam UTSW 16 96,619,568 (GRCm38) missense possibly damaging 0.82
R9176:Dscam UTSW 16 96,685,353 (GRCm38) missense probably benign 0.37
R9244:Dscam UTSW 16 96,685,229 (GRCm38) missense possibly damaging 0.62
R9339:Dscam UTSW 16 96,716,063 (GRCm38) missense possibly damaging 0.89
R9374:Dscam UTSW 16 97,056,657 (GRCm38) missense probably benign 0.19
R9385:Dscam UTSW 16 97,039,003 (GRCm38) missense probably benign
R9674:Dscam UTSW 16 96,640,836 (GRCm38) missense probably benign 0.03
X0025:Dscam UTSW 16 96,709,161 (GRCm38) missense probably damaging 1.00
Z1088:Dscam UTSW 16 96,772,561 (GRCm38) missense probably benign 0.01
Z1177:Dscam UTSW 16 96,608,189 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGCATTTCTATAGGCCATGGGG -3'
(R):5'- GACCAGTTCAGACAAGAAGCTG -3'

Sequencing Primer
(F):5'- GGGGAAAGGTCTAATTCTAAGTGTC -3'
(R):5'- GCTGGAAACATTGTATTGAGATTTCG -3'
Posted On 2015-07-06