Incidental Mutation 'IGL02899:Ncan'
ID 363501
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 # IGL02899
Quality Score
Status
Chromosome 8
Chromosomal Location 70545735-70573494 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70567698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 138 (R138H)
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: R138H

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: R138H

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 A G 2: 166,710,971 (GRCm39) probably benign Het
Btbd7 A G 12: 102,803,921 (GRCm39) L373P probably damaging Het
Capn3 A G 2: 120,322,382 (GRCm39) N414S possibly damaging Het
Ccdc186 A T 19: 56,781,920 (GRCm39) I753N probably benign Het
Ccser2 G A 14: 36,662,716 (GRCm39) T156I probably benign Het
Celsr1 A G 15: 85,915,927 (GRCm39) M682T probably damaging Het
Cep97 C A 16: 55,738,903 (GRCm39) S267I probably damaging Het
Dhx35 A G 2: 158,643,370 (GRCm39) Y39C probably damaging Het
Dscam A T 16: 96,510,447 (GRCm39) D937E probably damaging Het
Elmod2 A G 8: 84,043,562 (GRCm39) Y202H probably damaging Het
Fyco1 T C 9: 123,659,396 (GRCm39) N260S possibly damaging Het
Gm5591 A G 7: 38,218,842 (GRCm39) L677P probably damaging Het
Gmppa A G 1: 75,418,474 (GRCm39) probably null Het
Hltf C T 3: 20,153,981 (GRCm39) T639I probably damaging Het
Inhca C A 9: 103,154,773 (GRCm39) V173L probably damaging Het
Kpnb1 T C 11: 97,066,612 (GRCm39) Y321C probably damaging Het
Lgr4 G A 2: 109,748,598 (GRCm39) G45R probably damaging Het
Ltn1 T C 16: 87,179,547 (GRCm39) D1538G probably benign Het
Maf1 T A 15: 76,237,220 (GRCm39) probably benign Het
Morn5 T C 2: 35,945,049 (GRCm39) F91S probably damaging Het
Or10ak7 A T 4: 118,791,859 (GRCm39) M62K probably damaging Het
Or5ac21 G T 16: 59,123,649 (GRCm39) L44F probably damaging Het
Parg T C 14: 31,960,531 (GRCm39) L82S probably damaging Het
Ppp2r2b A T 18: 42,778,874 (GRCm39) H417Q probably damaging Het
Rb1cc1 T C 1: 6,334,807 (GRCm39) L98P probably damaging Het
Ryr1 C A 7: 28,748,220 (GRCm39) V3752L possibly damaging Het
Slc25a12 A G 2: 71,109,979 (GRCm39) L489P probably damaging Het
Slc38a8 C T 8: 120,212,282 (GRCm39) V354M probably benign Het
Slf2 A G 19: 44,930,459 (GRCm39) E512G probably benign Het
Tarbp1 A G 8: 127,180,583 (GRCm39) M597T probably damaging Het
Tgfb3 G A 12: 86,116,550 (GRCm39) R163C probably damaging Het
Tmco5b A G 2: 113,127,265 (GRCm39) M279V probably benign Het
Ttll9 G A 2: 152,844,871 (GRCm39) G413D probably damaging Het
Tut1 A G 19: 8,939,751 (GRCm39) D245G probably damaging Het
Usf3 T A 16: 44,041,589 (GRCm39) V2023E probably damaging Het
Vps33a C T 5: 123,669,239 (GRCm39) G554D probably damaging Het
Zfp27 C A 7: 29,595,680 (GRCm39) R95M possibly damaging 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
IGL02543:Ncan APN 8 70,561,221 (GRCm39) missense probably benign 0.37
IGL02551:Ncan APN 8 70,555,112 (GRCm39) missense probably damaging 1.00
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 2015-12-18