Incidental Mutation 'IGL00924:Ncan'
ID 28025
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncan
Ensembl Gene ENSMUSG00000002341
Gene Name neurocan
Synonyms Cspg3, Cspg3-rs, neurocan, Tgfbit
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00924
Quality Score
Status
Chromosome 8
Chromosomal Location 70093085-70120873 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70108389 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 643 (M643L)
Ref Sequence ENSEMBL: ENSMUSP00000002412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002412]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000002412
AA Change: M643L

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: M643L

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 23 30 N/A INTRINSIC
IG 43 157 9.63e-6 SMART
LINK 157 254 2.22e-56 SMART
LINK 258 356 4.72e-60 SMART
low complexity region 575 586 N/A INTRINSIC
low complexity region 602 632 N/A INTRINSIC
low complexity region 663 677 N/A INTRINSIC
EGF 963 996 6.5e-5 SMART
EGF_CA 998 1034 9.77e-9 SMART
CLECT 1040 1161 1.97e-41 SMART
CCP 1167 1223 2.53e-12 SMART
low complexity region 1225 1256 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Neurocan is a chondroitin sulfate proteoglycan thought to be involved in the modulation of cell adhesion and migration.[supplied by OMIM, Jul 2002]
PHENOTYPE: Mice homozygous for targeted null mutations are viable and fertile and exhibit normal behavior and brain anatomy; however, mild defects in long term potentiation were noted. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,215,862 V112A probably benign Het
Atp1a4 T A 1: 172,246,772 I305F probably damaging Het
AW209491 A G 13: 14,637,075 N171S probably damaging Het
Bank1 G T 3: 136,247,634 A120E probably damaging Het
Bdp1 T A 13: 100,097,579 E206D possibly damaging Het
Brd1 T C 15: 88,729,409 K428E possibly damaging Het
C530008M17Rik A G 5: 76,858,986 T1065A unknown Het
Ccdc42 A G 11: 68,594,621 I191V probably benign Het
Coa7 G T 4: 108,338,308 G145C possibly damaging Het
Cpm T G 10: 117,676,066 I305S probably damaging Het
Dlc1 A T 8: 36,938,214 S140R probably benign Het
Dnajc14 A G 10: 128,817,319 T674A probably benign Het
Dnajc7 A G 11: 100,584,285 I437T possibly damaging Het
Entpd5 A T 12: 84,387,054 V147E probably damaging Het
Gpr139 A G 7: 119,184,287 C30R probably benign Het
Habp4 A G 13: 64,174,071 D174G probably damaging Het
Has3 T C 8: 106,878,599 F479S probably benign Het
Helb T A 10: 120,110,984 K141N probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kdm1b G A 13: 47,068,480 R465H probably benign Het
Lrrc57 A T 2: 120,606,051 M86K possibly damaging Het
Map7d1 A G 4: 126,238,605 V258A probably damaging Het
Mybbp1a T A 11: 72,443,567 F216Y probably damaging Het
Ngdn T C 14: 55,023,169 I278T probably damaging Het
Olfr1199 T C 2: 88,756,156 D173G possibly damaging Het
Olfr460 C T 6: 40,571,454 R23C probably benign Het
P4hb G T 11: 120,563,818 Q245K probably benign Het
Pcx G A 19: 4,620,937 V1089I probably benign Het
Phc3 A T 3: 30,936,475 M498K probably damaging Het
Pkd1 T A 17: 24,571,627 L1025* probably null Het
Sdhaf2 G A 19: 10,517,016 P110S probably damaging Het
Slc22a20 T C 19: 5,970,516 K538E probably benign Het
Soga1 T G 2: 157,040,705 M476L probably damaging Het
Spag11b T A 8: 19,142,640 V78D probably damaging Het
Tgm3 T C 2: 130,038,374 C367R probably damaging Het
Unc5a G A 13: 55,004,514 E741K probably damaging Het
Vmn2r58 A T 7: 41,837,467 L668H probably damaging Het
Wdr62 G A 7: 30,265,218 T367I probably damaging Het
Wdr62 G A 7: 30,242,806 P603S probably damaging Het
Xab2 G A 8: 3,611,723 R577W probably damaging Het
Other mutations in Ncan
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Ncan APN 8 70115271 missense probably benign 0.24
IGL01319:Ncan APN 8 70097562 missense probably damaging 0.99
IGL01407:Ncan APN 8 70101957 missense probably benign 0.17
IGL01528:Ncan APN 8 70110081 missense probably benign 0.00
IGL01567:Ncan APN 8 70108334 missense probably benign 0.09
IGL01808:Ncan APN 8 70107440 critical splice donor site probably null
IGL02543:Ncan APN 8 70108571 missense probably benign 0.37
IGL02551:Ncan APN 8 70102462 missense probably damaging 1.00
IGL02899:Ncan APN 8 70115048 missense possibly damaging 0.95
IGL02940:Ncan APN 8 70110085 missense probably benign 0.02
IGL03058:Ncan APN 8 70107932 missense possibly damaging 0.83
learned UTSW 8 70098081 nonsense probably null
sagacious UTSW 8 70112590 missense probably damaging 0.99
R0219:Ncan UTSW 8 70115334 missense probably benign 0.08
R0538:Ncan UTSW 8 70108602 missense possibly damaging 0.86
R0540:Ncan UTSW 8 70115159 missense possibly damaging 0.93
R0854:Ncan UTSW 8 70112552 missense probably damaging 1.00
R0918:Ncan UTSW 8 70108389 missense possibly damaging 0.78
R1344:Ncan UTSW 8 70108169 missense probably benign
R1575:Ncan UTSW 8 70110198 missense probably benign 0.27
R1739:Ncan UTSW 8 70108086 missense probably benign 0.03
R1847:Ncan UTSW 8 70102454 missense probably damaging 0.96
R1859:Ncan UTSW 8 70115348 missense possibly damaging 0.94
R2320:Ncan UTSW 8 70108218 missense probably benign
R2370:Ncan UTSW 8 70112813 missense probably benign 0.05
R3407:Ncan UTSW 8 70112151 missense probably damaging 1.00
R3408:Ncan UTSW 8 70112151 missense probably damaging 1.00
R3961:Ncan UTSW 8 70110300 missense probably benign 0.05
R4155:Ncan UTSW 8 70110077 missense possibly damaging 0.87
R4156:Ncan UTSW 8 70110077 missense possibly damaging 0.87
R4365:Ncan UTSW 8 70115211 missense probably damaging 1.00
R4858:Ncan UTSW 8 70104055 missense probably benign 0.00
R4925:Ncan UTSW 8 70109954 missense probably benign 0.02
R4942:Ncan UTSW 8 70100294 missense probably damaging 1.00
R4976:Ncan UTSW 8 70115025 missense probably damaging 0.98
R5119:Ncan UTSW 8 70115025 missense probably damaging 0.98
R5141:Ncan UTSW 8 70112837 missense probably damaging 1.00
R5679:Ncan UTSW 8 70112626 missense probably damaging 1.00
R5706:Ncan UTSW 8 70102017 missense probably damaging 0.99
R5915:Ncan UTSW 8 70098081 nonsense probably null
R6033:Ncan UTSW 8 70112590 missense probably damaging 0.99
R6033:Ncan UTSW 8 70112590 missense probably damaging 0.99
R6223:Ncan UTSW 8 70109954 missense probably benign 0.02
R6390:Ncan UTSW 8 70115249 missense probably benign 0.34
R6533:Ncan UTSW 8 70096357 missense probably benign 0.01
R6836:Ncan UTSW 8 70100315 missense possibly damaging 0.84
R6869:Ncan UTSW 8 70107907 missense probably benign 0.08
R7229:Ncan UTSW 8 70100311 missense possibly damaging 0.69
R7232:Ncan UTSW 8 70112088 missense probably damaging 1.00
R7293:Ncan UTSW 8 70115211 missense probably damaging 0.98
R7406:Ncan UTSW 8 70110099 missense probably benign 0.00
R7474:Ncan UTSW 8 70102041 missense possibly damaging 0.53
R7779:Ncan UTSW 8 70115011 missense probably damaging 0.99
R7973:Ncan UTSW 8 70097575 missense probably benign 0.00
R8113:Ncan UTSW 8 70108571 missense possibly damaging 0.58
R8269:Ncan UTSW 8 70107680 missense probably benign 0.01
R8947:Ncan UTSW 8 70102521 missense probably damaging 0.98
R9324:Ncan UTSW 8 70107998 missense possibly damaging 0.75
R9717:Ncan UTSW 8 70101978 missense probably damaging 1.00
R9803:Ncan UTSW 8 70108101 missense probably benign 0.06
Z1177:Ncan UTSW 8 70097472 missense probably damaging 0.99
Posted On 2013-04-17