Incidental Mutation 'IGL00559:Nell2'
ID 12326
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nell2
Ensembl Gene ENSMUSG00000022454
Gene Name NEL-like 2
Synonyms A330108N19Rik, mel91
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00559
Quality Score
Status
Chromosome 15
Chromosomal Location 95117321-95426677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95425166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 62 (L62P)
Ref Sequence ENSEMBL: ENSMUSP00000155490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075275] [ENSMUST00000166170] [ENSMUST00000229933] [ENSMUST00000229981]
AlphaFold Q61220
Predicted Effect possibly damaging
Transcript: ENSMUST00000075275
AA Change: L62P

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074751
Gene: ENSMUSG00000022454
AA Change: L62P

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
TSPN 32 217 9.94e-64 SMART
LamG 86 216 3.97e-8 SMART
coiled coil region 242 271 N/A INTRINSIC
VWC 277 333 6.18e-10 SMART
VWC 337 398 3.57e0 SMART
EGF 403 442 2.02e-1 SMART
EGF_CA 443 484 2.8e-9 SMART
EGF_CA 485 525 9.47e-7 SMART
EGF 527 556 1.28e-3 SMART
EGF_CA 558 604 2.13e-9 SMART
EGF_like 605 644 9.39e-4 SMART
VWC 643 695 8.88e-1 SMART
VWC 703 758 1.13e-17 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000166170
AA Change: L62P

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131665
Gene: ENSMUSG00000022454
AA Change: L62P

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
TSPN 32 217 9.94e-64 SMART
LamG 86 216 3.97e-8 SMART
coiled coil region 242 271 N/A INTRINSIC
VWC 277 333 6.18e-10 SMART
VWC 337 398 3.57e0 SMART
EGF 403 442 2.02e-1 SMART
EGF_CA 443 484 2.8e-9 SMART
EGF_CA 485 525 9.47e-7 SMART
EGF 527 556 1.28e-3 SMART
EGF_CA 558 604 2.13e-9 SMART
EGF_like 605 644 9.39e-4 SMART
VWC 643 695 8.88e-1 SMART
VWC 703 758 1.13e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229933
AA Change: L62P

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect possibly damaging
Transcript: ENSMUST00000229981
AA Change: L62P

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
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 glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygous null mice display enhanced long term potentiation in the dentate gyrus of the hippocampus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cers4 G A 8: 4,571,216 (GRCm39) D262N probably benign Het
Cyp2d26 G A 15: 82,675,244 (GRCm39) A370V probably benign Het
Dnah7c T C 1: 46,846,449 (GRCm39) M4000T possibly damaging Het
Enkd1 C T 8: 106,430,974 (GRCm39) probably benign Het
H60b A G 10: 22,161,692 (GRCm39) H60R probably benign Het
Hmgb4 T C 4: 128,154,082 (GRCm39) N162S probably benign Het
Htt T C 5: 35,006,448 (GRCm39) probably benign Het
Kbtbd6 A G 14: 79,690,688 (GRCm39) D461G probably damaging Het
Pi4k2b T A 5: 52,908,790 (GRCm39) F205L probably damaging Het
Polr1b G T 2: 128,955,651 (GRCm39) V521F probably damaging Het
Prn G A 2: 131,795,335 (GRCm39) V152I probably benign Het
Ryr1 T C 7: 28,711,667 (GRCm39) probably benign Het
Sema3c G T 5: 17,899,858 (GRCm39) G450V probably damaging Het
Sema3d G A 5: 12,613,189 (GRCm39) R422K probably benign Het
Snw1 T C 12: 87,515,501 (GRCm39) D16G probably damaging Het
Tas2r121 T C 6: 132,677,484 (GRCm39) I163V probably benign Het
Other mutations in Nell2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00919:Nell2 APN 15 95,281,608 (GRCm39) missense possibly damaging 0.88
IGL01124:Nell2 APN 15 95,194,060 (GRCm39) missense probably damaging 1.00
IGL01356:Nell2 APN 15 95,127,064 (GRCm39) missense probably damaging 0.99
IGL01865:Nell2 APN 15 95,282,962 (GRCm39) missense possibly damaging 0.74
IGL02324:Nell2 APN 15 95,126,982 (GRCm39) missense probably damaging 0.99
IGL02505:Nell2 APN 15 95,194,144 (GRCm39) splice site probably benign
PIT4495001:Nell2 UTSW 15 95,281,608 (GRCm39) missense probably benign 0.33
R0112:Nell2 UTSW 15 95,329,562 (GRCm39) splice site probably benign
R0139:Nell2 UTSW 15 95,330,782 (GRCm39) missense probably benign 0.13
R0355:Nell2 UTSW 15 95,330,782 (GRCm39) missense probably benign 0.13
R0481:Nell2 UTSW 15 95,330,563 (GRCm39) splice site probably null
R0535:Nell2 UTSW 15 95,329,488 (GRCm39) missense probably benign 0.10
R0607:Nell2 UTSW 15 95,127,095 (GRCm39) missense probably benign 0.06
R1378:Nell2 UTSW 15 95,130,402 (GRCm39) missense probably damaging 1.00
R1688:Nell2 UTSW 15 95,329,494 (GRCm39) missense probably damaging 0.97
R2054:Nell2 UTSW 15 95,332,990 (GRCm39) missense probably benign 0.00
R2163:Nell2 UTSW 15 95,327,859 (GRCm39) missense probably damaging 1.00
R2176:Nell2 UTSW 15 95,333,038 (GRCm39) missense probably damaging 0.97
R3745:Nell2 UTSW 15 95,330,554 (GRCm39) missense probably damaging 1.00
R5055:Nell2 UTSW 15 95,371,460 (GRCm39) missense probably benign 0.00
R5184:Nell2 UTSW 15 95,425,690 (GRCm39) missense possibly damaging 0.78
R5382:Nell2 UTSW 15 95,127,091 (GRCm39) missense probably damaging 1.00
R6145:Nell2 UTSW 15 95,371,442 (GRCm39) missense probably damaging 1.00
R6264:Nell2 UTSW 15 95,244,706 (GRCm39) missense probably damaging 0.99
R6337:Nell2 UTSW 15 95,283,025 (GRCm39) missense probably damaging 1.00
R6423:Nell2 UTSW 15 95,425,163 (GRCm39) missense probably damaging 1.00
R6438:Nell2 UTSW 15 95,130,379 (GRCm39) missense probably damaging 1.00
R6579:Nell2 UTSW 15 95,282,957 (GRCm39) missense possibly damaging 0.88
R6810:Nell2 UTSW 15 95,139,468 (GRCm39) missense probably damaging 1.00
R6894:Nell2 UTSW 15 95,244,768 (GRCm39) missense probably damaging 1.00
R7016:Nell2 UTSW 15 95,127,032 (GRCm39) missense possibly damaging 0.87
R7266:Nell2 UTSW 15 95,333,274 (GRCm39) missense possibly damaging 0.50
R7761:Nell2 UTSW 15 95,330,550 (GRCm39) missense probably damaging 1.00
R7839:Nell2 UTSW 15 95,196,819 (GRCm39) missense probably benign 0.01
R7965:Nell2 UTSW 15 95,129,216 (GRCm39) missense probably damaging 0.99
R8000:Nell2 UTSW 15 95,333,155 (GRCm39) missense probably damaging 1.00
R8856:Nell2 UTSW 15 95,281,552 (GRCm39) missense probably damaging 1.00
R8880:Nell2 UTSW 15 95,129,329 (GRCm39) missense probably damaging 1.00
R8951:Nell2 UTSW 15 95,139,424 (GRCm39) missense probably damaging 1.00
R9036:Nell2 UTSW 15 95,194,117 (GRCm39) missense probably damaging 1.00
R9071:Nell2 UTSW 15 95,244,682 (GRCm39) nonsense probably null
R9383:Nell2 UTSW 15 95,282,957 (GRCm39) missense possibly damaging 0.88
R9496:Nell2 UTSW 15 95,194,097 (GRCm39) missense probably benign 0.10
X0038:Nell2 UTSW 15 95,425,693 (GRCm39) missense probably benign
Z1088:Nell2 UTSW 15 95,332,978 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06