Incidental Mutation 'R2176:Nell2'
ID 236907
Institutional Source Beutler Lab
Gene Symbol Nell2
Ensembl Gene ENSMUSG00000022454
Gene Name NEL-like 2
Synonyms A330108N19Rik, mel91
MMRRC Submission 040178-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2176 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 95117321-95426677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95333038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 174 (I174V)
Ref Sequence ENSEMBL: ENSMUSP00000155436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075275] [ENSMUST00000166170] [ENSMUST00000229933] [ENSMUST00000229981]
AlphaFold Q61220
Predicted Effect possibly damaging
Transcript: ENSMUST00000075275
AA Change: I174V

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074751
Gene: ENSMUSG00000022454
AA Change: I174V

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: I174V

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131665
Gene: ENSMUSG00000022454
AA Change: I174V

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: I174V

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000229981
AA Change: I174V

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.1987 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (64/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a T A 5: 121,657,649 (GRCm39) Y548F probably benign Het
Armc9 T C 1: 86,127,614 (GRCm39) L83P probably damaging Het
BC051665 A T 13: 60,932,344 (GRCm39) probably benign Het
Casp3 A G 8: 47,082,791 (GRCm39) N3S probably damaging Het
Ccdc174 G A 6: 91,865,070 (GRCm39) M109I probably benign Het
Ccr6 T A 17: 8,475,073 (GRCm39) F93I probably damaging Het
Clvs2 T C 10: 33,471,811 (GRCm39) S165G probably damaging Het
Cntnap5c T C 17: 58,320,941 (GRCm39) V171A probably benign Het
Dennd5a C A 7: 109,504,327 (GRCm39) probably null Het
Dock2 T A 11: 34,586,044 (GRCm39) Y546F probably benign Het
Fat2 A G 11: 55,158,401 (GRCm39) probably null Het
Focad T A 4: 88,197,481 (GRCm39) Y625N unknown Het
Fyb1 A G 15: 6,609,435 (GRCm39) K3E probably damaging Het
Gm14496 G A 2: 181,633,130 (GRCm39) D38N probably benign Het
Gm20403 T C 12: 55,033,155 (GRCm39) T54A probably benign Het
Gm9830 A G 9: 44,375,556 (GRCm39) noncoding transcript Het
Hectd1 A T 12: 51,792,277 (GRCm39) S2487R probably damaging Het
Il5ra A G 6: 106,715,233 (GRCm39) L175S probably benign Het
Inhca A G 9: 103,136,566 (GRCm39) probably benign Het
Itgav C T 2: 83,633,599 (GRCm39) R983C probably damaging Het
Kcna10 T C 3: 107,102,032 (GRCm39) V221A probably damaging Het
Kif13b G A 14: 64,907,120 (GRCm39) V35I probably benign Het
Kif6 G A 17: 50,062,258 (GRCm39) E473K probably damaging Het
Mfsd14a T C 3: 116,426,042 (GRCm39) T452A probably benign Het
Mllt1 A G 17: 57,204,398 (GRCm39) S382P probably benign Het
Myo15b T C 11: 115,757,398 (GRCm39) W1083R probably damaging Het
Noct G A 3: 51,157,117 (GRCm39) probably null Het
Nvl A T 1: 180,962,639 (GRCm39) probably benign Het
Ofcc1 T C 13: 40,250,595 (GRCm39) S574G probably benign Het
Or10a3m G A 7: 108,313,339 (GRCm39) V248I probably damaging Het
Or11h4 T C 14: 50,973,681 (GRCm39) M313V probably benign Het
Or4a75 A T 2: 89,447,924 (GRCm39) M204K possibly damaging Het
Pip5k1a A T 3: 94,972,807 (GRCm39) S415T probably damaging Het
Pkhd1 G A 1: 20,623,741 (GRCm39) P785S probably damaging Het
Plcg2 A G 8: 118,339,733 (GRCm39) Y1048C probably damaging Het
Ppp3cb A T 14: 20,570,720 (GRCm39) V337E probably benign Het
Prkg2 T C 5: 99,114,368 (GRCm39) probably benign Het
Prl7a2 T G 13: 27,843,089 (GRCm39) Y238S probably benign Het
Psg28 T A 7: 18,161,804 (GRCm39) D233V probably damaging Het
Rad50 A G 11: 53,589,036 (GRCm39) C221R probably benign Het
Rgl3 A G 9: 21,887,254 (GRCm39) probably benign Het
Rgsl1 T A 1: 153,701,014 (GRCm39) probably benign Het
Ror1 C A 4: 100,299,071 (GRCm39) R815S probably damaging Het
Rrp1b C A 17: 32,275,534 (GRCm39) D360E probably benign Het
Ryr3 T C 2: 112,496,680 (GRCm39) Q3682R possibly damaging Het
Sdr42e1 A T 8: 118,389,616 (GRCm39) F342I possibly damaging Het
Setd5 A G 6: 113,128,114 (GRCm39) R1337G probably benign Het
Siglecf T C 7: 43,001,140 (GRCm39) V36A probably damaging Het
Slc4a5 G A 6: 83,239,542 (GRCm39) G152D probably damaging Het
Sptbn4 T G 7: 27,063,587 (GRCm39) M2280L probably benign Het
Syngr2 T C 11: 117,703,406 (GRCm39) I74T probably damaging Het
Tm9sf1 T C 14: 55,878,866 (GRCm39) I175M possibly damaging Het
Tmc3 A G 7: 83,258,516 (GRCm39) E502G probably damaging Het
Tph1 T A 7: 46,311,463 (GRCm39) D88V possibly damaging Het
Tpr A G 1: 150,295,691 (GRCm39) K979E possibly damaging Het
Usp47 A G 7: 111,691,934 (GRCm39) T799A probably benign Het
Utf1 A G 7: 139,523,920 (GRCm39) E45G possibly damaging Het
Vmn1r208 A T 13: 22,956,772 (GRCm39) C242S probably damaging Het
Wrnip1 T C 13: 33,004,223 (GRCm39) I498T probably damaging Het
Ypel2 T A 11: 86,862,699 (GRCm39) H18L probably benign Het
Zan T G 5: 137,420,110 (GRCm39) D2849A unknown Het
Zfp647 A T 15: 76,795,860 (GRCm39) F267I probably damaging Het
Zfp786 G T 6: 47,797,905 (GRCm39) H344Q possibly damaging Het
Zswim3 G T 2: 164,662,614 (GRCm39) A365S probably benign Het
Zswim5 T C 4: 116,830,238 (GRCm39) W538R 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
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'- CAAATGAGGAGTGACTTCTTACCAG -3'
(R):5'- ATCAGACTCCACTACCGCTCTG -3'

Sequencing Primer
(F):5'- GGAGTGACTTCTTACCAGTTTAAAAC -3'
(R):5'- ACCGCTCTGGCACTCAC -3'
Posted On 2014-10-02