Incidental Mutation 'R1378:Nell2'
ID 162967
Institutional Source Beutler Lab
Gene Symbol Nell2
Ensembl Gene ENSMUSG00000022454
Gene Name NEL-like 2
Synonyms A330108N19Rik, mel91
MMRRC Submission 039442-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1378 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 95117321-95426677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95130402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 657 (V657E)
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: V657E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074751
Gene: ENSMUSG00000022454
AA Change: V657E

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: V657E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131665
Gene: ENSMUSG00000022454
AA Change: V657E

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: V657E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000229981
AA Change: V657E

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
Meta Mutation Damage Score 0.1477 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 100% (57/57)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A G 5: 36,126,030 (GRCm39) T342A probably damaging Het
Alg1 A G 16: 5,061,580 (GRCm39) N406D probably damaging Het
Atp13a4 A T 16: 29,239,246 (GRCm39) M825K probably damaging Het
Birc6 T A 17: 74,967,450 (GRCm39) I4117K probably damaging Het
Brinp2 A T 1: 158,074,624 (GRCm39) L499Q possibly damaging Het
Brwd1 A T 16: 95,842,570 (GRCm39) V789D probably benign Het
Ccdc153 C G 9: 44,154,958 (GRCm39) L94V probably null Het
Ccna1 A G 3: 54,957,150 (GRCm39) V237A probably damaging Het
Cct7 T A 6: 85,444,545 (GRCm39) probably null Het
Cenpb C T 2: 131,020,230 (GRCm39) probably benign Het
Chrne T A 11: 70,505,956 (GRCm39) probably null Het
Clstn3 T A 6: 124,415,378 (GRCm39) D662V probably damaging Het
Clu G T 14: 66,212,350 (GRCm39) C189F probably damaging Het
Cstdc5 A G 16: 36,179,929 (GRCm39) C63R probably benign Het
Cul7 C T 17: 46,973,052 (GRCm39) R1388C probably damaging Het
Dgka T C 10: 128,571,696 (GRCm39) probably null Het
Dop1b A G 16: 93,567,280 (GRCm39) T1236A probably benign Het
Edn2 A G 4: 120,019,095 (GRCm39) E28G probably benign Het
Elp3 T C 14: 65,830,380 (GRCm39) I24V probably benign Het
Faap24 T C 7: 35,092,326 (GRCm39) E197G probably benign Het
Fam13a T A 6: 58,933,736 (GRCm39) M285L probably benign Het
Gm9944 T A 4: 144,179,773 (GRCm39) probably benign Het
Gsdmc3 T C 15: 63,731,435 (GRCm39) probably benign Het
Gvin3 T A 7: 106,201,373 (GRCm39) I624F probably damaging Het
Ift22 A C 5: 136,941,757 (GRCm39) K133T probably benign Het
Il23r T A 6: 67,429,394 (GRCm39) K316I possibly damaging Het
Klra17 T A 6: 129,842,647 (GRCm39) E217V probably damaging Het
Nlrp4d C A 7: 10,098,111 (GRCm39) K850N probably benign Het
Nsmce4a C T 7: 130,139,900 (GRCm39) R276Q probably benign Het
Or10d4 T C 9: 39,580,962 (GRCm39) L203P probably damaging Het
Or4p8 T A 2: 88,727,370 (GRCm39) R190S probably benign Het
Or52s1b T C 7: 102,822,475 (GRCm39) D123G probably damaging Het
Or52z14 A T 7: 103,253,145 (GRCm39) R95* probably null Het
Pclo T C 5: 14,732,327 (GRCm39) S3610P probably benign Het
Pon3 T G 6: 5,230,813 (GRCm39) D238A probably benign Het
Ppp4r4 T C 12: 103,547,751 (GRCm39) probably benign Het
Rad18 T C 6: 112,658,297 (GRCm39) probably benign Het
Ralgapa1 T C 12: 55,723,711 (GRCm39) Y1652C probably damaging Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Sel1l T C 12: 91,799,871 (GRCm39) probably null Het
Soat1 A G 1: 156,294,352 (GRCm39) probably benign Het
Tex15 A T 8: 34,065,244 (GRCm39) N1558I probably damaging Het
Tmem132d A T 5: 128,346,011 (GRCm39) F170L probably benign Het
Tro G T X: 149,438,567 (GRCm39) P30Q probably damaging Het
Tubg2 G T 11: 101,047,699 (GRCm39) E95* probably null Het
Unc45b G A 11: 82,827,678 (GRCm39) S725N probably benign Het
Vmn2r7 A G 3: 64,599,025 (GRCm39) S511P possibly damaging Het
Vps35l G T 7: 118,393,795 (GRCm39) E515* probably null Het
Vps35l A T 7: 118,393,796 (GRCm39) E515V probably damaging Het
Zfp174 G A 16: 3,667,353 (GRCm39) E181K 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
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
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
Predicted Primers PCR Primer
(F):5'- AGATATTTTCCACTCTTGGGTGAAGGC -3'
(R):5'- CCATAGATATTGACGAATGCGGGACTG -3'

Sequencing Primer
(F):5'- gggggaggggaaaaggg -3'
(R):5'- GGACTGGGAGGCACAGC -3'
Posted On 2014-03-17