Incidental Mutation 'R7343:Dscaml1'
ID 570022
Institutional Source Beutler Lab
Gene Symbol Dscaml1
Ensembl Gene ENSMUSG00000032087
Gene Name DS cell adhesion molecule like 1
Synonyms 4921507G06Rik, 4930435C18Rik
MMRRC Submission 045433-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.416) question?
Stock # R7343 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 45338735-45665011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45664214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 2030 (R2030G)
Ref Sequence ENSEMBL: ENSMUSP00000034592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034592]
AlphaFold Q4VA61
Predicted Effect probably benign
Transcript: ENSMUST00000034592
AA Change: R2030G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034592
Gene: ENSMUSG00000032087
AA Change: R2030G

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
low complexity region 28 55 N/A INTRINSIC
IG_like 96 168 1.22e0 SMART
IG 189 277 1.15e-3 SMART
IGc2 296 359 2.54e-14 SMART
IGc2 385 451 8.12e-13 SMART
IGc2 478 550 9.55e-10 SMART
IGc2 575 640 9.78e-7 SMART
IGc2 666 734 5.93e-6 SMART
IGc2 760 832 6.75e-10 SMART
IG 853 943 1e-3 SMART
FN3 945 1029 6.64e-7 SMART
FN3 1045 1133 9.46e-12 SMART
FN3 1148 1234 3.2e-9 SMART
FN3 1249 1332 3.48e-10 SMART
IGc2 1363 1428 1.49e-11 SMART
FN3 1442 1522 3.42e-9 SMART
FN3 1537 1618 2.14e-1 SMART
low complexity region 1671 1683 N/A INTRINSIC
low complexity region 2018 2026 N/A INTRINSIC
low complexity region 2035 2069 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit impaired self-avoidance in multiple cell types in the retina. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A C 6: 83,139,353 (GRCm39) N426T probably benign Het
6430548M08Rik A G 8: 120,872,327 (GRCm39) D85G probably benign Het
Abcb11 C T 2: 69,130,211 (GRCm39) D282N probably damaging Het
Abcg3 A T 5: 105,116,100 (GRCm39) F245I probably benign Het
Abhd17a G T 10: 80,419,991 (GRCm39) F231L possibly damaging Het
Adgra1 A T 7: 139,456,058 (GRCm39) D562V probably damaging Het
Akap7 C A 10: 25,165,567 (GRCm39) probably benign Het
Akap9 A G 5: 4,096,364 (GRCm39) D2413G probably damaging Het
Akr1c18 A T 13: 4,187,236 (GRCm39) C193S probably damaging Het
Aloxe3 A T 11: 69,023,569 (GRCm39) M231L probably benign Het
Apoh A G 11: 108,286,674 (GRCm39) T33A probably benign Het
Atp13a5 T C 16: 29,140,567 (GRCm39) N330D probably benign Het
C1ql3 T G 2: 13,015,589 (GRCm39) M24L probably benign Het
Cacna1d T C 14: 29,845,014 (GRCm39) N712S probably benign Het
Cbs T C 17: 31,838,113 (GRCm39) M379V possibly damaging Het
Ccdc167 T C 17: 29,924,517 (GRCm39) D28G probably damaging Het
Ccp110 A T 7: 118,323,798 (GRCm39) Q679L probably benign Het
Ccz1 A T 5: 143,935,000 (GRCm39) L310H probably damaging Het
Cerkl A T 2: 79,259,104 (GRCm39) D44E probably damaging Het
Cfap221 T A 1: 119,922,828 (GRCm39) E38V possibly damaging Het
Chia1 T A 3: 106,039,331 (GRCm39) *474R probably null Het
Clint1 C T 11: 45,774,590 (GRCm39) T32M probably damaging Het
Clk3 A T 9: 57,668,239 (GRCm39) F227L probably damaging Het
Col5a3 C T 9: 20,705,242 (GRCm39) probably null Het
Cul2 T C 18: 3,426,873 (GRCm39) I501T probably benign Het
Dag1 G A 9: 108,086,292 (GRCm39) A283V possibly damaging Het
Ddr2 A T 1: 169,809,647 (GRCm39) W777R probably damaging Het
Deaf1 A T 7: 140,902,871 (GRCm39) V151D probably damaging Het
Dido1 A T 2: 180,316,914 (GRCm39) V631E possibly damaging Het
Dpp4 G A 2: 62,189,245 (GRCm39) Q429* probably null Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
E2f8 T A 7: 48,517,713 (GRCm39) M697L probably damaging Het
Eef2kmt C A 16: 5,065,299 (GRCm39) G303W probably damaging Het
Eif2ak1 A G 5: 143,814,489 (GRCm39) Y182C probably damaging Het
Epha6 G T 16: 59,780,793 (GRCm39) A636E probably damaging Het
Fancd2 G A 6: 113,513,900 (GRCm39) V95I probably benign Het
Fbln5 A T 12: 101,727,075 (GRCm39) C292S probably damaging Het
Fgfr4 A G 13: 55,306,968 (GRCm39) Y219C probably damaging Het
Frem1 T G 4: 82,912,359 (GRCm39) K670T probably damaging Het
Fsip2 A T 2: 82,809,711 (GRCm39) H2010L probably benign Het
Gas2l2 A T 11: 83,312,816 (GRCm39) L832* probably null Het
Gbe1 A G 16: 70,157,903 (GRCm39) T101A probably benign Het
Gm5114 T A 7: 39,058,180 (GRCm39) I480F probably damaging Het
Gm7145 A T 1: 117,913,842 (GRCm39) R241S probably damaging Het
Gnal G A 18: 67,268,596 (GRCm39) V161I probably benign Het
Gtpbp1 T C 15: 79,575,243 (GRCm39) C46R probably benign Het
Gucy2c A T 6: 136,679,746 (GRCm39) L971Q probably damaging Het
Hsp90b1 T C 10: 86,528,047 (GRCm39) E740G probably damaging Het
Lingo2 G A 4: 35,709,450 (GRCm39) L177F possibly damaging Het
Mfsd6l A G 11: 68,447,874 (GRCm39) T242A possibly damaging Het
Mmadhc C T 2: 50,181,457 (GRCm39) R71K probably damaging Het
Mrm3 G T 11: 76,140,726 (GRCm39) V245L probably damaging Het
Nav3 T A 10: 109,739,619 (GRCm39) I117F probably damaging Het
Noc3l A T 19: 38,783,468 (GRCm39) V636D probably damaging Het
Nwd1 A T 8: 73,438,410 (GRCm39) Q1486L probably damaging Het
Or10aa1 A T 1: 173,870,419 (GRCm39) K301M probably damaging Het
Or2y10 A G 11: 49,455,329 (GRCm39) T194A possibly damaging Het
Or3a10 G T 11: 73,935,726 (GRCm39) R125S possibly damaging Het
Or4c11c T G 2: 88,662,190 (GRCm39) I243R probably damaging Het
Or6c5b C G 10: 129,245,852 (GRCm39) L206V possibly damaging Het
Pax9 T A 12: 56,742,647 (GRCm39) M1K probably null Het
Pcdha1 T C 18: 37,063,702 (GRCm39) V122A probably damaging Het
Pgpep1l A T 7: 67,887,469 (GRCm39) S44T probably damaging Het
Pla2g3 C T 11: 3,443,022 (GRCm39) L452F possibly damaging Het
Plbd2 G A 5: 120,631,214 (GRCm39) R188W probably damaging Het
Ppp1r42 G A 1: 10,039,082 (GRCm39) P346L probably benign Het
Prdm8 T A 5: 98,332,375 (GRCm39) V92D probably damaging Het
Ripor2 C A 13: 24,885,427 (GRCm39) S554* probably null Het
Rps19 T C 7: 24,584,571 (GRCm39) V4A probably damaging Het
Rrm2b T A 15: 37,944,817 (GRCm39) I159F probably benign Het
Rusc1 C A 3: 88,999,057 (GRCm39) G242W probably damaging Het
Sarm1 A G 11: 78,388,083 (GRCm39) S68P possibly damaging Het
Sctr G A 1: 119,949,955 (GRCm39) R48Q probably benign Het
Slc22a4 A G 11: 53,877,364 (GRCm39) F509S possibly damaging Het
Slc39a12 G A 2: 14,456,811 (GRCm39) A600T probably damaging Het
Spta1 A T 1: 174,050,915 (GRCm39) H1798L probably damaging Het
Sulf2 T G 2: 165,919,536 (GRCm39) D804A possibly damaging Het
Suz12 A T 11: 79,910,529 (GRCm39) E316D probably benign Het
Tbrg4 A G 11: 6,570,065 (GRCm39) S270P probably benign Het
Tecta T C 9: 42,248,628 (GRCm39) T1925A probably damaging Het
Thrap3 A T 4: 126,072,223 (GRCm39) F390I probably damaging Het
Tpr C A 1: 150,269,245 (GRCm39) A70E unknown Het
Trpv4 G C 5: 114,774,520 (GRCm39) P188R probably benign Het
Txlna A C 4: 129,525,953 (GRCm39) L298R probably damaging Het
Ubr4 T C 4: 139,140,749 (GRCm39) S1223P probably benign Het
Ucp1 A T 8: 84,021,881 (GRCm39) T238S probably damaging Het
Ush2a A G 1: 188,147,943 (GRCm39) S957G probably benign Het
Usp34 A G 11: 23,438,868 (GRCm39) N3496D Het
Vmn2r50 T C 7: 9,784,277 (GRCm39) probably null Het
Wdr54 A G 6: 83,131,921 (GRCm39) V130A probably benign Het
Zfp692 A T 11: 58,202,331 (GRCm39) E362V probably damaging Het
Zfp811 A G 17: 33,016,487 (GRCm39) Y518H probably damaging Het
Zfp994 A C 17: 22,419,049 (GRCm39) C633W probably benign Het
Other mutations in Dscaml1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Dscaml1 APN 9 45,581,498 (GRCm39) nonsense probably null
IGL00497:Dscaml1 APN 9 45,663,536 (GRCm39) missense probably damaging 1.00
IGL00895:Dscaml1 APN 9 45,662,551 (GRCm39) missense probably damaging 0.99
IGL01011:Dscaml1 APN 9 45,594,970 (GRCm39) missense possibly damaging 0.76
IGL01086:Dscaml1 APN 9 45,613,960 (GRCm39) splice site probably benign
IGL01125:Dscaml1 APN 9 45,660,930 (GRCm39) critical splice acceptor site probably null
IGL01132:Dscaml1 APN 9 45,663,626 (GRCm39) nonsense probably null
IGL01356:Dscaml1 APN 9 45,658,155 (GRCm39) missense probably benign 0.03
IGL01459:Dscaml1 APN 9 45,653,981 (GRCm39) nonsense probably null
IGL01552:Dscaml1 APN 9 45,359,206 (GRCm39) missense probably damaging 1.00
IGL02033:Dscaml1 APN 9 45,595,080 (GRCm39) missense probably damaging 1.00
IGL02044:Dscaml1 APN 9 45,658,241 (GRCm39) nonsense probably null
IGL02095:Dscaml1 APN 9 45,359,001 (GRCm39) missense probably damaging 1.00
IGL02166:Dscaml1 APN 9 45,594,999 (GRCm39) missense probably damaging 0.98
IGL02262:Dscaml1 APN 9 45,643,378 (GRCm39) missense probably benign 0.44
IGL02262:Dscaml1 APN 9 45,656,414 (GRCm39) missense probably benign
IGL02340:Dscaml1 APN 9 45,581,474 (GRCm39) missense possibly damaging 0.66
IGL02604:Dscaml1 APN 9 45,655,626 (GRCm39) unclassified probably benign
IGL02619:Dscaml1 APN 9 45,359,094 (GRCm39) missense probably damaging 1.00
IGL02805:Dscaml1 APN 9 45,359,195 (GRCm39) missense probably damaging 0.98
IGL03409:Dscaml1 APN 9 45,581,401 (GRCm39) missense probably damaging 1.00
D3080:Dscaml1 UTSW 9 45,595,623 (GRCm39) missense probably benign 0.44
IGL03050:Dscaml1 UTSW 9 45,654,297 (GRCm39) missense probably damaging 1.00
R0149:Dscaml1 UTSW 9 45,653,978 (GRCm39) nonsense probably null
R0582:Dscaml1 UTSW 9 45,579,562 (GRCm39) missense possibly damaging 0.77
R0629:Dscaml1 UTSW 9 45,632,716 (GRCm39) missense probably damaging 0.98
R0632:Dscaml1 UTSW 9 45,643,432 (GRCm39) missense probably benign 0.06
R0815:Dscaml1 UTSW 9 45,656,372 (GRCm39) missense probably benign 0.00
R1162:Dscaml1 UTSW 9 45,663,647 (GRCm39) splice site probably benign
R1449:Dscaml1 UTSW 9 45,653,521 (GRCm39) missense possibly damaging 0.95
R1474:Dscaml1 UTSW 9 45,596,519 (GRCm39) missense probably damaging 1.00
R1481:Dscaml1 UTSW 9 45,583,941 (GRCm39) missense probably benign 0.01
R1533:Dscaml1 UTSW 9 45,361,882 (GRCm39) missense probably damaging 0.99
R1542:Dscaml1 UTSW 9 45,660,738 (GRCm39) missense possibly damaging 0.84
R1572:Dscaml1 UTSW 9 45,632,631 (GRCm39) missense probably benign 0.00
R1627:Dscaml1 UTSW 9 45,664,445 (GRCm39) missense probably damaging 1.00
R1634:Dscaml1 UTSW 9 45,584,047 (GRCm39) missense probably damaging 1.00
R1713:Dscaml1 UTSW 9 45,663,988 (GRCm39) missense possibly damaging 0.49
R1777:Dscaml1 UTSW 9 45,595,054 (GRCm39) missense possibly damaging 0.58
R1812:Dscaml1 UTSW 9 45,662,584 (GRCm39) critical splice donor site probably null
R1834:Dscaml1 UTSW 9 45,594,930 (GRCm39) missense probably benign 0.00
R1907:Dscaml1 UTSW 9 45,651,778 (GRCm39) missense probably damaging 1.00
R1953:Dscaml1 UTSW 9 45,581,522 (GRCm39) missense probably benign 0.01
R2056:Dscaml1 UTSW 9 45,661,430 (GRCm39) missense probably damaging 0.99
R2193:Dscaml1 UTSW 9 45,596,532 (GRCm39) missense probably benign 0.21
R2497:Dscaml1 UTSW 9 45,656,376 (GRCm39) missense probably benign 0.00
R3768:Dscaml1 UTSW 9 45,643,435 (GRCm39) missense possibly damaging 0.94
R3891:Dscaml1 UTSW 9 45,628,782 (GRCm39) missense possibly damaging 0.84
R4110:Dscaml1 UTSW 9 45,643,366 (GRCm39) missense probably benign 0.07
R4706:Dscaml1 UTSW 9 45,361,878 (GRCm39) missense probably damaging 1.00
R4716:Dscaml1 UTSW 9 45,361,890 (GRCm39) missense probably damaging 1.00
R4719:Dscaml1 UTSW 9 45,583,993 (GRCm39) missense probably benign 0.13
R4770:Dscaml1 UTSW 9 45,581,404 (GRCm39) missense probably damaging 1.00
R4924:Dscaml1 UTSW 9 45,656,487 (GRCm39) missense probably damaging 1.00
R5167:Dscaml1 UTSW 9 45,628,730 (GRCm39) missense probably damaging 1.00
R5346:Dscaml1 UTSW 9 45,361,857 (GRCm39) missense possibly damaging 0.63
R5737:Dscaml1 UTSW 9 45,656,483 (GRCm39) missense probably damaging 0.99
R5977:Dscaml1 UTSW 9 45,632,596 (GRCm39) missense probably benign 0.19
R6073:Dscaml1 UTSW 9 45,361,881 (GRCm39) missense probably benign 0.22
R6276:Dscaml1 UTSW 9 45,579,458 (GRCm39) missense possibly damaging 0.62
R6415:Dscaml1 UTSW 9 45,594,975 (GRCm39) nonsense probably null
R6527:Dscaml1 UTSW 9 45,623,482 (GRCm39) nonsense probably null
R6582:Dscaml1 UTSW 9 45,664,104 (GRCm39) missense probably benign 0.00
R6655:Dscaml1 UTSW 9 45,658,235 (GRCm39) missense probably benign 0.00
R6772:Dscaml1 UTSW 9 45,621,609 (GRCm39) missense probably damaging 1.00
R6799:Dscaml1 UTSW 9 45,361,881 (GRCm39) missense probably benign 0.22
R6892:Dscaml1 UTSW 9 45,595,128 (GRCm39) missense probably damaging 0.99
R6918:Dscaml1 UTSW 9 45,341,805 (GRCm39) missense probably benign
R6967:Dscaml1 UTSW 9 45,585,821 (GRCm39) missense probably damaging 0.97
R7214:Dscaml1 UTSW 9 45,581,437 (GRCm39) missense probably benign 0.01
R7286:Dscaml1 UTSW 9 45,654,044 (GRCm39) critical splice donor site probably null
R7315:Dscaml1 UTSW 9 45,656,423 (GRCm39) missense probably benign 0.00
R7338:Dscaml1 UTSW 9 45,585,802 (GRCm39) missense probably benign 0.12
R7395:Dscaml1 UTSW 9 45,613,703 (GRCm39) missense possibly damaging 0.73
R7439:Dscaml1 UTSW 9 45,621,624 (GRCm39) missense possibly damaging 0.94
R7484:Dscaml1 UTSW 9 45,660,744 (GRCm39) splice site probably null
R7545:Dscaml1 UTSW 9 45,596,681 (GRCm39) missense probably benign 0.11
R7979:Dscaml1 UTSW 9 45,595,029 (GRCm39) missense probably damaging 1.00
R8005:Dscaml1 UTSW 9 45,628,808 (GRCm39) missense probably damaging 1.00
R8181:Dscaml1 UTSW 9 45,658,140 (GRCm39) missense possibly damaging 0.86
R8262:Dscaml1 UTSW 9 45,658,438 (GRCm39) intron probably benign
R8428:Dscaml1 UTSW 9 45,653,884 (GRCm39) missense probably benign 0.00
R8725:Dscaml1 UTSW 9 45,341,759 (GRCm39) missense probably benign 0.00
R8727:Dscaml1 UTSW 9 45,341,759 (GRCm39) missense probably benign 0.00
R8796:Dscaml1 UTSW 9 45,359,026 (GRCm39) missense probably damaging 0.99
R8840:Dscaml1 UTSW 9 45,634,718 (GRCm39) missense probably damaging 0.99
R9291:Dscaml1 UTSW 9 45,359,251 (GRCm39) missense probably damaging 1.00
R9394:Dscaml1 UTSW 9 45,661,354 (GRCm39) missense possibly damaging 0.64
R9610:Dscaml1 UTSW 9 45,579,522 (GRCm39) missense possibly damaging 0.95
R9611:Dscaml1 UTSW 9 45,579,522 (GRCm39) missense possibly damaging 0.95
R9653:Dscaml1 UTSW 9 45,643,466 (GRCm39) critical splice donor site probably null
R9699:Dscaml1 UTSW 9 45,654,315 (GRCm39) missense probably damaging 0.97
X0058:Dscaml1 UTSW 9 45,663,426 (GRCm39) missense probably benign 0.00
Z1177:Dscaml1 UTSW 9 45,584,089 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ACTACTGCAACCTGCCACTG -3'
(R):5'- CATTTCGAGTAGTGAGTCCCTGG -3'

Sequencing Primer
(F):5'- AAGTCTGAGGCCTTCTTCCGAAAG -3'
(R):5'- AGTAGTGAGTCCCTGGAGCCC -3'
Posted On 2019-09-13