Incidental Mutation 'R9339:Dscam'
ID 707410
Institutional Source Beutler Lab
Gene Symbol Dscam
Ensembl Gene ENSMUSG00000050272
Gene Name DS cell adhesion molecule
Synonyms 4932410A21Rik
MMRRC Submission
Accession Numbers

Genbank: NM_031174; MGI: 1196281
Essential gene? Essential (E-score: 1.000) question?
Stock # R9339 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 96592079-97170752 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96716063 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 882 (V882A)
Ref Sequence ENSEMBL: ENSMUSP00000056040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056102]
AlphaFold Q9ERC8
Predicted Effect possibly damaging
Transcript: ENSMUST00000056102
AA Change: V882A

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
AA Change: V882A

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: 99.4%
Validation Efficiency 99% (77/78)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,849,657 E304G unknown Het
4933425L06Rik C T 13: 105,109,606 T225I probably benign Het
4933436I01Rik T A X: 67,921,083 K57* probably null Het
Aar2 T C 2: 156,550,973 V94A probably benign Het
Abcb9 T C 5: 124,090,113 T22A possibly damaging Het
Adam25 T C 8: 40,753,874 V59A probably damaging Het
Ampd2 T C 3: 108,080,300 D103G probably damaging Het
Ankrd12 A G 17: 65,984,413 S1342P probably benign Het
Atp13a2 A G 4: 141,003,260 T739A probably benign Het
Catsperg1 T A 7: 29,195,460 N571Y probably benign Het
Cela3b A G 4: 137,425,044 I74T probably damaging Het
Cfhr1 A G 1: 139,557,555 L51P probably benign Het
Ckap5 T A 2: 91,565,755 D534E probably benign Het
Cstf3 C T 2: 104,663,433 P594L probably damaging Het
Ctdp1 A G 18: 80,449,474 L602P probably damaging Het
Defa24 A G 8: 21,734,543 T3A probably damaging Het
Dmgdh A G 13: 93,711,433 H546R probably benign Het
Dydc2 A G 14: 41,049,303 *140Q probably null Het
Ehd4 T C 2: 120,091,227 D516G possibly damaging Het
En1 T C 1: 120,607,164 V394A unknown Het
Erich3 T G 3: 154,763,235 L1108R unknown Het
Erp27 A G 6: 136,919,947 S86P probably benign Het
Esr1 A C 10: 4,746,798 S216R probably damaging Het
Fbxo40 A T 16: 36,968,924 I608N probably damaging Het
Fcna G A 2: 25,627,770 Q23* probably null Het
Foxn4 C T 5: 114,256,894 R324Q probably benign Het
Gata6 A G 18: 11,054,520 T150A probably damaging Het
Gbp2b T A 3: 142,611,417 H511Q probably benign Het
Gm4788 T A 1: 139,754,306 Y184F probably benign Het
Gpr171 C A 3: 59,097,941 V138L probably damaging Het
Grhl2 G A 15: 37,344,660 V509I probably benign Het
Gzmd G A 14: 56,130,412 P135S probably damaging Het
Hhatl C A 9: 121,789,796 C90F probably benign Het
Hspg2 A G 4: 137,551,169 K3050R probably benign Het
Kcnh3 T C 15: 99,232,905 Y468H probably damaging Het
Lhfp A G 3: 53,043,470 H55R probably benign Het
Lpgat1 T C 1: 191,719,376 V38A probably benign Het
Lrrc49 A G 9: 60,602,748 I479T probably benign Het
Map1b A T 13: 99,431,062 I1717N unknown Het
Map3k20 G T 2: 72,441,872 R781S possibly damaging Het
Mcm3ap A G 10: 76,470,524 E157G probably benign Het
Mylk2 A G 2: 152,913,450 E178G probably damaging Het
Naaladl2 A G 3: 24,002,982 L605P probably damaging Het
Nox4 G A 7: 87,376,240 R525Q probably benign Het
Olfr1249 T C 2: 89,630,211 E229G probably damaging Het
Olfr63 T C 17: 33,269,657 V311A probably benign Het
Padi3 A T 4: 140,795,617 I348N probably benign Het
Pcdh18 T C 3: 49,754,886 D660G probably damaging Het
Pdgfra T A 5: 75,194,974 S1048R probably damaging Het
Pkhd1l1 T C 15: 44,589,553 V3958A probably damaging Het
Ppargc1b C A 18: 61,323,196 C80F probably damaging Het
Rbm28 T C 6: 29,128,675 E590G probably benign Het
Rbm47 T C 5: 66,026,483 E259G possibly damaging Het
Rint1 A G 5: 23,788,357 *37W probably null Het
Sacs G A 14: 61,205,860 R1785Q probably benign Het
Samm50 T C 15: 84,211,075 C421R probably benign Het
Scnn1b G T 7: 121,912,031 A314S probably damaging Het
Sf3b3 C A 8: 110,816,222 V868L probably benign Het
Sirt5 G T 13: 43,376,851 V136L probably benign Het
Slc1a7 T C 4: 107,993,040 V116A probably damaging Het
Slc24a4 G A 12: 102,264,379 V510M probably damaging Het
Slc35f5 T C 1: 125,589,891 I116T probably benign Het
Spata4 T C 8: 54,600,864 S22P probably benign Het
Sqstm1 A G 11: 50,200,898 V324A probably benign Het
Stmnd1 G A 13: 46,299,603 A252T probably benign Het
Tbl1xr1 C A 3: 22,203,986 N470K possibly damaging Het
Thap12 T C 7: 98,715,116 S164P possibly damaging Het
Thsd1 A G 8: 22,243,882 Y315C probably damaging Het
Tnni2 C A 7: 142,443,935 D102E probably damaging Het
Trav7n-4 A C 14: 53,091,392 N16T probably benign Het
Trpm7 T C 2: 126,823,986 K900R probably benign Het
Tspoap1 T A 11: 87,778,013 C1371S probably benign Het
Tssk5 A G 15: 76,372,956 M242T possibly damaging Het
Ubn2 A G 6: 38,483,144 I607V probably benign Het
Ubr2 A T 17: 46,973,939 V551E probably benign Het
Vipr2 A G 12: 116,094,724 N87S probably damaging Het
Vmn2r18 T A 5: 151,561,667 K787N probably damaging Het
Wwc2 A T 8: 47,900,824 W92R probably damaging Het
Zfp141 A G 7: 42,476,215 Y278H probably damaging Het
Zfp827 T C 8: 79,118,258 S686P probably benign Het
Other mutations in Dscam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Dscam APN 16 96608065 missense possibly damaging 0.64
IGL00841:Dscam APN 16 96819877 missense probably damaging 1.00
IGL01289:Dscam APN 16 96643882 nonsense probably null
IGL01358:Dscam APN 16 96610343 missense possibly damaging 0.68
IGL01431:Dscam APN 16 96652078 critical splice donor site probably null
IGL01444:Dscam APN 16 96673709 missense possibly damaging 0.95
IGL01767:Dscam APN 16 96654936 missense probably damaging 1.00
IGL01866:Dscam APN 16 96685350 missense probably benign 0.06
IGL02020:Dscam APN 16 96716069 missense probably damaging 1.00
IGL02023:Dscam APN 16 96801197 missense probably benign 0.06
IGL02057:Dscam APN 16 96716073 nonsense probably null
IGL02389:Dscam APN 16 96640897 missense probably benign 0.27
IGL02409:Dscam APN 16 96819888 missense possibly damaging 0.46
IGL02694:Dscam APN 16 96593276 missense probably benign 0.00
IGL02899:Dscam APN 16 96709247 missense probably damaging 0.98
IGL02956:Dscam APN 16 96801272 missense probably damaging 0.98
IGL03035:Dscam APN 16 96819970 missense possibly damaging 0.94
IGL03191:Dscam APN 16 96820769 missense probably benign 0.36
growler UTSW 16 96820997 missense probably damaging 0.99
Twostep UTSW 16 96825782 splice site probably null
F6893:Dscam UTSW 16 97056460 missense possibly damaging 0.78
K3955:Dscam UTSW 16 96673687 missense probably benign 0.00
R0024:Dscam UTSW 16 96593385 nonsense probably null
R0057:Dscam UTSW 16 96673736 missense probably damaging 1.00
R0057:Dscam UTSW 16 96673736 missense probably damaging 1.00
R0117:Dscam UTSW 16 96673678 missense probably benign 0.33
R0211:Dscam UTSW 16 96716079 missense possibly damaging 0.50
R0280:Dscam UTSW 16 97039006 missense possibly damaging 0.62
R0355:Dscam UTSW 16 96654905 missense probably benign 0.00
R0380:Dscam UTSW 16 97056610 missense probably damaging 1.00
R0445:Dscam UTSW 16 96772503 missense probably damaging 1.00
R0492:Dscam UTSW 16 96825782 splice site probably null
R0534:Dscam UTSW 16 96652172 missense possibly damaging 0.67
R0593:Dscam UTSW 16 96772408 missense probably benign 0.19
R0707:Dscam UTSW 16 96825782 splice site probably null
R0738:Dscam UTSW 16 96819781 missense possibly damaging 0.48
R1017:Dscam UTSW 16 96833433 missense probably damaging 1.00
R1377:Dscam UTSW 16 96772494 missense probably damaging 1.00
R1440:Dscam UTSW 16 96819951 missense probably damaging 1.00
R1442:Dscam UTSW 16 96608074 missense possibly damaging 0.94
R1464:Dscam UTSW 16 96801253 missense possibly damaging 0.94
R1464:Dscam UTSW 16 96801253 missense possibly damaging 0.94
R1478:Dscam UTSW 16 96790910 missense probably benign 0.15
R1530:Dscam UTSW 16 96819874 missense probably damaging 1.00
R1731:Dscam UTSW 16 96819876 missense probably damaging 1.00
R1765:Dscam UTSW 16 96685379 missense probably benign 0.00
R1824:Dscam UTSW 16 96825581 missense probably benign 0.00
R1933:Dscam UTSW 16 96593214 missense probably benign 0.00
R2005:Dscam UTSW 16 97038920 missense probably benign 0.02
R2006:Dscam UTSW 16 96819912 missense probably damaging 1.00
R2101:Dscam UTSW 16 96610349 missense probably benign 0.00
R2177:Dscam UTSW 16 96610324 missense probably damaging 0.98
R2342:Dscam UTSW 16 96619502 missense probably damaging 1.00
R2851:Dscam UTSW 16 96622715 missense possibly damaging 0.94
R2929:Dscam UTSW 16 96685412 missense possibly damaging 0.76
R3055:Dscam UTSW 16 96801355 missense probably damaging 1.00
R3157:Dscam UTSW 16 96678510 missense probably benign 0.16
R3159:Dscam UTSW 16 96678510 missense probably benign 0.16
R3944:Dscam UTSW 16 96820997 missense probably damaging 0.99
R4080:Dscam UTSW 16 96683772 missense probably benign 0.01
R4285:Dscam UTSW 16 96709109 critical splice donor site probably null
R4384:Dscam UTSW 16 96709216 missense probably damaging 0.99
R4460:Dscam UTSW 16 96610319 missense probably damaging 1.00
R4575:Dscam UTSW 16 96825623 missense possibly damaging 0.82
R4594:Dscam UTSW 16 96717996 missense possibly damaging 0.78
R4643:Dscam UTSW 16 96685301 missense probably damaging 0.96
R4698:Dscam UTSW 16 96610324 missense probably damaging 1.00
R4716:Dscam UTSW 16 96619571 missense possibly damaging 0.80
R4743:Dscam UTSW 16 96830056 missense probably benign 0.00
R4766:Dscam UTSW 16 96643988 missense probably benign 0.02
R4899:Dscam UTSW 16 96683818 missense probably benign 0.01
R4987:Dscam UTSW 16 96697521 missense probably benign 0.00
R4990:Dscam UTSW 16 96825515 missense probably benign 0.12
R5123:Dscam UTSW 16 96772437 missense probably damaging 1.00
R5130:Dscam UTSW 16 96819779 missense probably benign 0.00
R5328:Dscam UTSW 16 96673678 missense probably benign 0.33
R5666:Dscam UTSW 16 96718164 missense probably benign 0.23
R5670:Dscam UTSW 16 96718164 missense probably benign 0.23
R5678:Dscam UTSW 16 96790900 missense probably benign 0.16
R5827:Dscam UTSW 16 96649991 critical splice donor site probably null
R5907:Dscam UTSW 16 96820920 missense probably damaging 0.97
R6032:Dscam UTSW 16 96649991 critical splice donor site probably null
R6032:Dscam UTSW 16 96649991 critical splice donor site probably null
R6103:Dscam UTSW 16 96825581 missense probably benign
R6240:Dscam UTSW 16 96619502 missense probably damaging 1.00
R6257:Dscam UTSW 16 96673714 missense possibly damaging 0.94
R6361:Dscam UTSW 16 96622811 missense probably benign 0.08
R6405:Dscam UTSW 16 96678425 missense probably damaging 1.00
R6444:Dscam UTSW 16 96619644 missense probably damaging 1.00
R6560:Dscam UTSW 16 96825735 missense probably benign 0.00
R6598:Dscam UTSW 16 96819784 missense probably damaging 1.00
R6622:Dscam UTSW 16 96645073 missense probably benign 0.06
R6792:Dscam UTSW 16 96593255 missense probably damaging 0.96
R6792:Dscam UTSW 16 96648237 missense probably damaging 1.00
R6827:Dscam UTSW 16 97038991 missense probably damaging 1.00
R6868:Dscam UTSW 16 96829940 missense probably damaging 1.00
R6898:Dscam UTSW 16 96829900 missense probably benign 0.02
R6903:Dscam UTSW 16 96820788 missense probably damaging 1.00
R7051:Dscam UTSW 16 96819786 missense probably benign 0.01
R7146:Dscam UTSW 16 96829917 nonsense probably null
R7180:Dscam UTSW 16 96825564 missense probably damaging 0.97
R7209:Dscam UTSW 16 96650344 splice site probably null
R7247:Dscam UTSW 16 96820808 missense probably damaging 0.99
R7269:Dscam UTSW 16 96678401 missense probably benign 0.00
R7301:Dscam UTSW 16 97056532 missense probably benign 0.01
R7328:Dscam UTSW 16 96645035 nonsense probably null
R7368:Dscam UTSW 16 96643931 missense probably benign 0.00
R7425:Dscam UTSW 16 96629398 missense probably damaging 1.00
R7474:Dscam UTSW 16 96819889 missense possibly damaging 0.88
R7536:Dscam UTSW 16 96641026 splice site probably null
R7624:Dscam UTSW 16 96610324 missense probably damaging 1.00
R7766:Dscam UTSW 16 96790901 missense probably benign 0.31
R7817:Dscam UTSW 16 96640864 missense probably benign
R7843:Dscam UTSW 16 96825630 missense probably damaging 0.99
R7911:Dscam UTSW 16 96643922 missense probably benign 0.01
R8108:Dscam UTSW 16 96643879 missense probably benign 0.01
R8128:Dscam UTSW 16 96801174 splice site probably null
R8770:Dscam UTSW 16 96654906 missense possibly damaging 0.50
R8876:Dscam UTSW 16 96619628 missense probably damaging 0.96
R9005:Dscam UTSW 16 96801380 missense probably damaging 1.00
R9009:Dscam UTSW 16 97038916 missense probably benign 0.10
R9168:Dscam UTSW 16 96619568 missense possibly damaging 0.82
R9176:Dscam UTSW 16 96685353 missense probably benign 0.37
R9244:Dscam UTSW 16 96685229 missense possibly damaging 0.62
R9374:Dscam UTSW 16 97056657 missense probably benign 0.19
R9385:Dscam UTSW 16 97039003 missense probably benign
R9674:Dscam UTSW 16 96640836 missense probably benign 0.03
X0025:Dscam UTSW 16 96709161 missense probably damaging 1.00
Z1088:Dscam UTSW 16 96772561 missense probably benign 0.01
Z1177:Dscam UTSW 16 96608189 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CCATGTTTCAGGGCTTCACC -3'
(R):5'- CAATGACTGAGTGCTGGAGTTG -3'

Sequencing Primer
(F):5'- CCTGACATGATCACAGCCTCTG -3'
(R):5'- GGGTAAAAGCCTATTTTCCCAC -3'
Posted On 2022-04-18