Incidental Mutation 'R6533:Ncan'
ID 520193
Institutional Source Beutler Lab
Gene Symbol Ncan
Ensembl Gene ENSMUSG00000002341
Gene Name neurocan
Synonyms Cspg3-rs, Tgfbit, Cspg3
MMRRC Submission 044659-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6533 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 70545735-70573494 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 70549007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 1257 (A1257V)
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: A1257V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: A1257V

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (44/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010B08Rik C T 2: 173,561,628 (GRCm39) probably benign Het
4932414N04Rik G T 2: 68,546,662 (GRCm39) E115* probably null Het
Abhd16a G A 17: 35,317,785 (GRCm39) probably null Het
Ankrd28 T A 14: 31,454,041 (GRCm39) I244L possibly damaging Het
Barx2 T C 9: 31,824,275 (GRCm39) Y38C probably damaging Het
Btn2a2 C A 13: 23,665,951 (GRCm39) E294* probably null Het
Ceacam2 C G 7: 25,230,136 (GRCm39) V157L probably benign Het
Ces2c T A 8: 105,578,725 (GRCm39) F334L possibly damaging Het
Col7a1 T C 9: 108,790,426 (GRCm39) I958T unknown Het
Dcp2 T A 18: 44,532,731 (GRCm39) D82E probably benign Het
Dnah8 T C 17: 30,965,964 (GRCm39) L2432S probably damaging Het
Dst A G 1: 34,342,590 (GRCm39) D7582G probably benign Het
Fat3 T A 9: 15,910,195 (GRCm39) I1936L probably benign Het
Gsdmc4 T A 15: 63,763,909 (GRCm39) N396I probably damaging Het
Lonrf2 A C 1: 38,852,349 (GRCm39) D167E probably benign Het
Marf1 T C 16: 13,933,663 (GRCm39) D1575G probably benign Het
Med23 T C 10: 24,769,518 (GRCm39) L101P probably damaging Het
Myh3 A G 11: 66,981,245 (GRCm39) I703V probably damaging Het
Nipal4 A T 11: 46,041,234 (GRCm39) Y320* probably null Het
Obox5 A T 7: 15,491,532 (GRCm39) Q24L probably benign Het
Orc1 T C 4: 108,454,644 (GRCm39) S345P probably benign Het
P4hb A T 11: 120,462,469 (GRCm39) I79N probably damaging Het
Phf3 A T 1: 30,845,399 (GRCm39) I1262N probably damaging Het
Pigo A T 4: 43,022,697 (GRCm39) N291K probably benign Het
Ppargc1b C T 18: 61,440,845 (GRCm39) R691H possibly damaging Het
Ppm1m T C 9: 106,074,069 (GRCm39) probably benign Het
Ptprd A T 4: 76,046,765 (GRCm39) D500E probably damaging Het
Rab3gap2 T A 1: 184,965,151 (GRCm39) probably null Het
Rnf214 A G 9: 45,811,361 (GRCm39) S101P probably benign Het
Sdhc A G 1: 170,957,396 (GRCm39) S162P possibly damaging Het
Spta1 C T 1: 174,071,713 (GRCm39) T2231I probably damaging Het
Stxbp2 T A 8: 3,692,683 (GRCm39) D578E probably benign Het
Tacc2 A T 7: 130,224,567 (GRCm39) E417D possibly damaging Het
Tas2r144 A T 6: 42,192,280 (GRCm39) N7Y probably benign Het
Tasp1 A G 2: 139,676,277 (GRCm39) *421R probably null Het
Tigd5 A G 15: 75,782,039 (GRCm39) I134V possibly damaging Het
Tmem95 A T 11: 69,768,843 (GRCm39) M1K probably null Het
Trappc10 T C 10: 78,024,728 (GRCm39) M1134V probably damaging Het
Unc45a T G 7: 79,983,817 (GRCm39) K326N probably damaging Het
Vmn1r59 A G 7: 5,457,463 (GRCm39) V99A probably benign Het
Vmn2r4 T C 3: 64,322,519 (GRCm39) T67A probably benign Het
Vmn2r85 A T 10: 130,262,529 (GRCm39) M70K probably benign Het
Zftraf1 C A 15: 76,531,930 (GRCm39) E283* probably null Het
Zkscan8 A G 13: 21,704,748 (GRCm39) F325S probably 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
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
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
Predicted Primers PCR Primer
(F):5'- TTAATGGCTGGGAAGTGACCTAG -3'
(R):5'- CTTTGCATCCCTCTGAGGAG -3'

Sequencing Primer
(F):5'- TTCCAGGAGGACCTCAGTAACAG -3'
(R):5'- TCTGAGGAGGCCAGTGG -3'
Posted On 2018-06-06