Incidental Mutation 'IGL02543:Ncan'
ID 298287
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncan
Ensembl Gene ENSMUSG00000002341
Gene Name neurocan
Synonyms Cspg3-rs, Tgfbit, Cspg3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02543
Quality Score
Status
Chromosome 8
Chromosomal Location 70545735-70573494 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70561221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 582 (D582G)
Ref Sequence ENSEMBL: ENSMUSP00000002412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002412]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000002412
AA Change: D582G

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: D582G

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G T 19: 31,895,495 (GRCm39) A193S probably damaging Het
Adcy4 T C 14: 56,006,627 (GRCm39) T1069A probably benign Het
Arg2 A T 12: 79,197,533 (GRCm39) I184F probably benign Het
Asb18 G A 1: 89,942,113 (GRCm39) P63S probably damaging Het
Cep85 T C 4: 133,883,634 (GRCm39) H85R possibly damaging Het
Chfr A G 5: 110,291,413 (GRCm39) probably null Het
Cog2 A G 8: 125,256,698 (GRCm39) N148S probably benign Het
Csgalnact1 T C 8: 68,913,720 (GRCm39) T162A probably damaging Het
Ddi1 C T 9: 6,266,183 (GRCm39) G62D possibly damaging Het
Dhx33 T C 11: 70,878,066 (GRCm39) Y435C probably damaging Het
Dsc3 A T 18: 20,098,885 (GRCm39) C765S probably benign Het
Egfem1 T A 3: 29,722,529 (GRCm39) D362E probably benign Het
Gm28040 A T 1: 133,247,069 (GRCm39) I26F possibly damaging Het
Gm28778 T C 1: 53,338,202 (GRCm39) M22T probably benign Het
Hdac1-ps A G 17: 78,799,303 (GRCm39) E98G probably damaging Het
Hipk2 A G 6: 38,680,436 (GRCm39) I968T possibly damaging Het
Hlx T G 1: 184,462,948 (GRCm39) S235R probably damaging Het
Jag1 T C 2: 136,933,867 (GRCm39) probably benign Het
Kdr A G 5: 76,125,607 (GRCm39) probably benign Het
Klhl3 T C 13: 58,166,685 (GRCm39) E435G probably damaging Het
L3mbtl4 T C 17: 68,768,607 (GRCm39) probably benign Het
Large1 T A 8: 73,775,042 (GRCm39) M223L probably benign Het
Lrp1b T C 2: 40,760,413 (GRCm39) K2838E possibly damaging Het
Nedd9 T C 13: 41,470,211 (GRCm39) D314G probably damaging Het
Nip7 T C 8: 107,784,825 (GRCm39) probably benign Het
Or10j27 T G 1: 172,957,901 (GRCm39) K294N probably damaging Het
Or52ae9 A T 7: 103,389,710 (GRCm39) C246S possibly damaging Het
Or7a42 C A 10: 78,791,773 (GRCm39) H245N probably damaging Het
P3h1 T C 4: 119,095,053 (GRCm39) probably benign Het
Pcp4l1 C T 1: 171,003,133 (GRCm39) probably benign Het
Plekhm2 C T 4: 141,369,330 (GRCm39) G118D probably benign Het
Prkg1 T C 19: 30,602,134 (GRCm39) D374G possibly damaging Het
Ptcd1 A G 5: 145,091,497 (GRCm39) L534P possibly damaging Het
Rnf123 A G 9: 107,943,547 (GRCm39) S563P probably damaging Het
Scart1 A G 7: 139,800,491 (GRCm39) M91V probably benign Het
Sdk2 A T 11: 113,759,747 (GRCm39) I418N possibly damaging Het
Slc26a4 A G 12: 31,578,688 (GRCm39) I655T possibly damaging Het
Syne1 T C 10: 4,993,618 (GRCm39) K524R probably damaging Het
Tanc1 G T 2: 59,663,602 (GRCm39) G1120C probably damaging Het
Tbc1d22a C T 15: 86,123,372 (GRCm39) A135V probably benign Het
Tenm3 A C 8: 48,751,991 (GRCm39) W942G probably damaging Het
Thsd7b G A 1: 130,092,840 (GRCm39) V1247I probably benign Het
Treml1 A G 17: 48,667,459 (GRCm39) T115A possibly damaging Het
Ttn T C 2: 76,540,306 (GRCm39) T34227A probably benign Het
Ugt2b38 T A 5: 87,571,342 (GRCm39) D230V probably benign Het
Vmn1r203 G A 13: 22,709,074 (GRCm39) G285D probably damaging Het
Vmn2r76 A G 7: 85,879,356 (GRCm39) S315P probably benign Het
Vmn2r98 T G 17: 19,286,083 (GRCm39) S194A probably benign Het
Wdr1 G A 5: 38,703,165 (GRCm39) S137F probably damaging Het
Wnt7b C T 15: 85,443,097 (GRCm39) probably benign Het
Zfp668 A T 7: 127,467,494 (GRCm39) C27* probably null Het
Other mutations in Ncan
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Ncan APN 8 70,567,921 (GRCm39) missense probably benign 0.24
IGL00924:Ncan APN 8 70,561,039 (GRCm39) missense possibly damaging 0.78
IGL01319:Ncan APN 8 70,550,212 (GRCm39) missense probably damaging 0.99
IGL01407:Ncan APN 8 70,554,607 (GRCm39) missense probably benign 0.17
IGL01528:Ncan APN 8 70,562,731 (GRCm39) missense probably benign 0.00
IGL01567:Ncan APN 8 70,560,984 (GRCm39) missense probably benign 0.09
IGL01808:Ncan APN 8 70,560,090 (GRCm39) critical splice donor site probably null
IGL02551:Ncan APN 8 70,555,112 (GRCm39) missense probably damaging 1.00
IGL02899:Ncan APN 8 70,567,698 (GRCm39) missense possibly damaging 0.95
IGL02940:Ncan APN 8 70,562,735 (GRCm39) missense probably benign 0.02
IGL03058:Ncan APN 8 70,560,582 (GRCm39) missense possibly damaging 0.83
learned UTSW 8 70,550,731 (GRCm39) nonsense probably null
sagacious UTSW 8 70,565,240 (GRCm39) missense probably damaging 0.99
R0219:Ncan UTSW 8 70,567,984 (GRCm39) missense probably benign 0.08
R0538:Ncan UTSW 8 70,561,252 (GRCm39) missense possibly damaging 0.86
R0540:Ncan UTSW 8 70,567,809 (GRCm39) missense possibly damaging 0.93
R0854:Ncan UTSW 8 70,565,202 (GRCm39) missense probably damaging 1.00
R0918:Ncan UTSW 8 70,561,039 (GRCm39) missense possibly damaging 0.78
R1344:Ncan UTSW 8 70,560,819 (GRCm39) missense probably benign
R1575:Ncan UTSW 8 70,562,848 (GRCm39) missense probably benign 0.27
R1739:Ncan UTSW 8 70,560,736 (GRCm39) missense probably benign 0.03
R1847:Ncan UTSW 8 70,555,104 (GRCm39) missense probably damaging 0.96
R1859:Ncan UTSW 8 70,567,998 (GRCm39) missense possibly damaging 0.94
R2320:Ncan UTSW 8 70,560,868 (GRCm39) missense probably benign
R2370:Ncan UTSW 8 70,565,463 (GRCm39) missense probably benign 0.05
R3407:Ncan UTSW 8 70,564,801 (GRCm39) missense probably damaging 1.00
R3408:Ncan UTSW 8 70,564,801 (GRCm39) missense probably damaging 1.00
R3961:Ncan UTSW 8 70,562,950 (GRCm39) missense probably benign 0.05
R4155:Ncan UTSW 8 70,562,727 (GRCm39) missense possibly damaging 0.87
R4156:Ncan UTSW 8 70,562,727 (GRCm39) missense possibly damaging 0.87
R4365:Ncan UTSW 8 70,567,861 (GRCm39) missense probably damaging 1.00
R4858:Ncan UTSW 8 70,556,705 (GRCm39) missense probably benign 0.00
R4925:Ncan UTSW 8 70,562,604 (GRCm39) missense probably benign 0.02
R4942:Ncan UTSW 8 70,552,944 (GRCm39) missense probably damaging 1.00
R4976:Ncan UTSW 8 70,567,675 (GRCm39) missense probably damaging 0.98
R5119:Ncan UTSW 8 70,567,675 (GRCm39) missense probably damaging 0.98
R5141:Ncan UTSW 8 70,565,487 (GRCm39) missense probably damaging 1.00
R5679:Ncan UTSW 8 70,565,276 (GRCm39) missense probably damaging 1.00
R5706:Ncan UTSW 8 70,554,667 (GRCm39) missense probably damaging 0.99
R5915:Ncan UTSW 8 70,550,731 (GRCm39) nonsense probably null
R6033:Ncan UTSW 8 70,565,240 (GRCm39) missense probably damaging 0.99
R6033:Ncan UTSW 8 70,565,240 (GRCm39) missense probably damaging 0.99
R6223:Ncan UTSW 8 70,562,604 (GRCm39) missense probably benign 0.02
R6390:Ncan UTSW 8 70,567,899 (GRCm39) missense probably benign 0.34
R6533:Ncan UTSW 8 70,549,007 (GRCm39) missense probably benign 0.01
R6836:Ncan UTSW 8 70,552,965 (GRCm39) missense possibly damaging 0.84
R6869:Ncan UTSW 8 70,560,557 (GRCm39) missense probably benign 0.08
R7229:Ncan UTSW 8 70,552,961 (GRCm39) missense possibly damaging 0.69
R7232:Ncan UTSW 8 70,564,738 (GRCm39) missense probably damaging 1.00
R7293:Ncan UTSW 8 70,567,861 (GRCm39) missense probably damaging 0.98
R7406:Ncan UTSW 8 70,562,749 (GRCm39) missense probably benign 0.00
R7474:Ncan UTSW 8 70,554,691 (GRCm39) missense possibly damaging 0.53
R7779:Ncan UTSW 8 70,567,661 (GRCm39) missense probably damaging 0.99
R7973:Ncan UTSW 8 70,550,225 (GRCm39) missense probably benign 0.00
R8113:Ncan UTSW 8 70,561,221 (GRCm39) missense possibly damaging 0.58
R8269:Ncan UTSW 8 70,560,330 (GRCm39) missense probably benign 0.01
R8947:Ncan UTSW 8 70,555,171 (GRCm39) missense probably damaging 0.98
R9324:Ncan UTSW 8 70,560,648 (GRCm39) missense possibly damaging 0.75
R9717:Ncan UTSW 8 70,554,628 (GRCm39) missense probably damaging 1.00
R9803:Ncan UTSW 8 70,560,751 (GRCm39) missense probably benign 0.06
Z1177:Ncan UTSW 8 70,550,122 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16