Incidental Mutation 'IGL01865:Nell2'
ID 178455
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 # IGL01865
Quality Score
Status
Chromosome 15
Chromosomal Location 95117321-95426677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95282962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 360 (V360A)
Ref Sequence ENSEMBL: ENSMUSP00000155436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075275] [ENSMUST00000166170] [ENSMUST00000229933] [ENSMUST00000229981]
AlphaFold Q61220
Predicted Effect probably benign
Transcript: ENSMUST00000075275
AA Change: V360A

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000074751
Gene: ENSMUSG00000022454
AA Change: V360A

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: ENSMUST00000166170
AA Change: V360A

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131665
Gene: ENSMUSG00000022454
AA Change: V360A

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: ENSMUST00000229933
AA Change: V360A

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000229981
AA Change: V360A

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik T C 7: 127,836,107 (GRCm39) H162R probably damaging Het
Adamts10 T A 17: 33,772,140 (GRCm39) M1096K probably damaging Het
Asap3 G T 4: 135,963,715 (GRCm39) C325F probably damaging Het
Atm T C 9: 53,372,302 (GRCm39) E2160G probably damaging Het
Col4a1 G A 8: 11,251,790 (GRCm39) probably benign Het
Ctdp1 C T 18: 80,499,199 (GRCm39) G248S probably damaging Het
Dcaf5 A T 12: 80,386,088 (GRCm39) D679E probably benign Het
Efcab2 C A 1: 178,303,253 (GRCm39) Y91* probably null Het
Eif3d G T 15: 77,851,546 (GRCm39) T88K probably benign Het
Gapvd1 G A 2: 34,585,515 (GRCm39) A1049V probably null Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm18856 T A 13: 14,139,508 (GRCm39) probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm9991 A G 1: 90,606,635 (GRCm39) noncoding transcript Het
Hapln1 T C 13: 89,749,784 (GRCm39) Y110H probably damaging Het
Htr1f A G 16: 64,746,282 (GRCm39) Y337H probably damaging Het
Kirrel1 T A 3: 86,993,731 (GRCm39) S509C probably damaging Het
Limch1 A T 5: 67,131,923 (GRCm39) R138* probably null Het
Lypla1 A C 1: 4,907,259 (GRCm39) I108L probably damaging Het
Mc3r A G 2: 172,090,975 (GRCm39) N66D probably damaging Het
Melk T A 4: 44,344,988 (GRCm39) C373S probably benign Het
Myocd C A 11: 65,091,723 (GRCm39) S73I probably benign Het
Npas4 G A 19: 5,035,819 (GRCm39) Q782* probably null Het
Or7a36 A T 10: 78,820,512 (GRCm39) D296V possibly damaging Het
Pdzd8 T C 19: 59,288,077 (GRCm39) K1108E possibly damaging Het
Per2 A G 1: 91,349,239 (GRCm39) I1044T probably benign Het
Pgm3 A G 9: 86,437,371 (GRCm39) F501S possibly damaging Het
Ppp1r3c A G 19: 36,711,578 (GRCm39) V64A probably benign Het
Ptpn6 A T 6: 124,709,428 (GRCm39) I15N probably damaging Het
Pxk T C 14: 8,136,923 (GRCm38) V148A possibly damaging Het
Rngtt T A 4: 33,325,157 (GRCm39) probably benign Het
Rtkn2 T G 10: 67,871,705 (GRCm39) S364R probably benign Het
Rtn1 A C 12: 72,266,074 (GRCm39) L167R probably damaging Het
Sp2 G A 11: 96,851,868 (GRCm39) T352I probably damaging Het
Tbc1d17 A G 7: 44,492,113 (GRCm39) M459T possibly damaging Het
Tbcd T A 11: 121,481,206 (GRCm39) M694K possibly damaging Het
Tln2 G A 9: 67,157,896 (GRCm39) R1148* probably null Het
Trim27 T C 13: 21,376,662 (GRCm39) V294A probably damaging Het
Tspyl5 G T 15: 33,687,858 (GRCm39) A29E unknown Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vrk2 C T 11: 26,485,560 (GRCm39) V143I possibly damaging Het
Zfp952 G A 17: 33,221,791 (GRCm39) R52Q probably benign Het
Zfp979 A T 4: 147,699,774 (GRCm39) D55E probably benign Het
Other mutations in Nell2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00559:Nell2 APN 15 95,425,166 (GRCm39) missense possibly damaging 0.94
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
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 2014-05-07