Incidental Mutation 'R6810:Nell2'
ID 533779
Institutional Source Beutler Lab
Gene Symbol Nell2
Ensembl Gene ENSMUSG00000022454
Gene Name NEL-like 2
Synonyms A330108N19Rik, mel91
MMRRC Submission 044923-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6810 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 95117321-95426677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95139468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 588 (D588G)
Ref Sequence ENSEMBL: ENSMUSP00000131665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075275] [ENSMUST00000166170] [ENSMUST00000229933] [ENSMUST00000229981]
AlphaFold Q61220
Predicted Effect probably damaging
Transcript: ENSMUST00000075275
AA Change: D588G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074751
Gene: ENSMUSG00000022454
AA Change: D588G

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 damaging
Transcript: ENSMUST00000166170
AA Change: D588G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131665
Gene: ENSMUSG00000022454
AA Change: D588G

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 damaging
Transcript: ENSMUST00000229933
AA Change: D588G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000229981
AA Change: D588G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency 96% (53/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg5 A T 8: 95,660,570 (GRCm39) T70S probably damaging Het
Adora1 T C 1: 134,161,777 (GRCm39) Y106C probably damaging Het
Aox3 T A 1: 58,180,590 (GRCm39) N250K probably benign Het
Ap2b1 A T 11: 83,226,317 (GRCm39) Y238F possibly damaging Het
Birc6 G A 17: 74,919,215 (GRCm39) S2015N possibly damaging Het
C7 A G 15: 5,037,136 (GRCm39) F581L probably damaging Het
Cd27 A T 6: 125,210,627 (GRCm39) H203Q probably damaging Het
Cdk2 A G 10: 128,535,456 (GRCm39) V274A probably benign Het
Cenpe A G 3: 134,949,583 (GRCm39) T1351A probably benign Het
Chd7 T C 4: 8,839,523 (GRCm39) L1353P probably damaging Het
Dcc C T 18: 71,503,764 (GRCm39) V945M probably damaging Het
Dio1 A G 4: 107,154,922 (GRCm39) V118A probably damaging Het
Dst C T 1: 34,251,379 (GRCm39) T1818M probably damaging Het
Dthd1 T A 5: 62,971,672 (GRCm39) M165K probably benign Het
Eif5b A G 1: 38,085,741 (GRCm39) I929V probably benign Het
F5 T A 1: 164,014,471 (GRCm39) S581T probably damaging Het
Fanca A C 8: 124,013,216 (GRCm39) I761S probably damaging Het
Fat2 T C 11: 55,173,067 (GRCm39) T2549A possibly damaging Het
Fut2 A G 7: 45,299,929 (GRCm39) L281P probably damaging Het
Gm19410 C A 8: 36,239,733 (GRCm39) A143E probably damaging Het
Gm5431 T C 11: 48,779,803 (GRCm39) D651G probably damaging Het
Hook3 A C 8: 26,522,450 (GRCm39) probably null Het
Ivd G T 2: 118,700,242 (GRCm39) V90L probably benign Het
Klhdc7b A G 15: 89,272,559 (GRCm39) Y1147C possibly damaging Het
Mlh1 G A 9: 111,070,626 (GRCm39) T363M possibly damaging Het
Ndufa3 A T 7: 3,622,476 (GRCm39) I45F probably damaging Het
Nhlrc3 T C 3: 53,360,996 (GRCm39) N253S probably benign Het
Nlrp4c T A 7: 6,069,754 (GRCm39) F552I probably damaging Het
Or51g1 A C 7: 102,634,042 (GRCm39) S110A probably damaging Het
Or5j3 G A 2: 86,128,267 (GRCm39) A36T probably benign Het
Pcdhga12 T C 18: 37,900,232 (GRCm39) S355P probably benign Het
Pcdhga7 A T 18: 37,848,926 (GRCm39) Y311F probably benign Het
Phldb2 A G 16: 45,569,088 (GRCm39) probably null Het
Plscr4 G A 9: 92,365,889 (GRCm39) V120I probably damaging Het
Plxna4 A G 6: 32,287,457 (GRCm39) V480A probably benign Het
Psrc1 A T 3: 108,292,664 (GRCm39) K152N possibly damaging Het
Ptcd3 A C 6: 71,862,516 (GRCm39) V473G probably damaging Het
Rab11fip1 ACTCT ACT 8: 27,642,760 (GRCm39) probably null Het
Semp2l2b C T 10: 21,942,616 (GRCm39) G455R probably damaging Het
Skint6 T C 4: 112,805,577 (GRCm39) probably null Het
Slc24a1 A G 9: 64,855,605 (GRCm39) V434A probably benign Het
Snd1 T A 6: 28,668,609 (GRCm39) V432E probably benign Het
Syne2 C T 12: 75,989,659 (GRCm39) T1847M probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tes C A 6: 17,104,651 (GRCm39) N377K probably benign Het
Tfip11 T A 5: 112,481,463 (GRCm39) I452N probably benign Het
Tgfbi T C 13: 56,785,016 (GRCm39) S658P probably benign Het
Tmx4 A C 2: 134,462,594 (GRCm39) D112E probably damaging Het
Tnn G T 1: 159,932,412 (GRCm39) D1367E probably damaging Het
Triobp A G 15: 78,850,815 (GRCm39) N323S possibly damaging Het
Usp40 T C 1: 87,908,755 (GRCm39) D582G probably benign Het
Vmn2r99 A G 17: 19,600,296 (GRCm39) K440R probably benign Het
Zfp707 T A 15: 75,846,748 (GRCm39) L193Q probably damaging Het
Zfp748 T C 13: 67,689,844 (GRCm39) Y472C probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- ACATCTTTGGTCTCCAACATTCAAC -3'
(R):5'- TCCTCGGTTTCAAGGTTTGC -3'

Sequencing Primer
(F):5'- AACATTCACTCTTACTCTGCTACAGG -3'
(R):5'- GCTGGCATTCAGAATTATAGTAGC -3'
Posted On 2018-09-12