Incidental Mutation 'IGL03323:Necap2'
ID 416560
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Necap2
Ensembl Gene ENSMUSG00000028923
Gene Name NECAP endocytosis associated 2
Synonyms 1110005F07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # IGL03323
Quality Score
Status
Chromosome 4
Chromosomal Location 140793823-140805668 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 140795533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 242 (I242N)
Ref Sequence ENSEMBL: ENSMUSP00000030760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030760] [ENSMUST00000153721]
AlphaFold Q9D1J1
Predicted Effect possibly damaging
Transcript: ENSMUST00000030760
AA Change: I242N

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030760
Gene: ENSMUSG00000028923
AA Change: I242N

DomainStartEndE-ValueType
Pfam:DUF1681 6 163 1.7e-60 PFAM
low complexity region 181 197 N/A INTRINSIC
low complexity region 249 262 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122933
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132906
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145621
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149178
Predicted Effect probably benign
Transcript: ENSMUST00000153721
SMART Domains Protein: ENSMUSP00000121918
Gene: ENSMUSG00000028923

DomainStartEndE-ValueType
Pfam:DUF1681 1 75 4.6e-32 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a member of the adaptin-ear-binding coat-associated protein family. Studies of a similar protein in rat suggest a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 A T 14: 103,292,730 (GRCm39) D418V probably damaging Het
Ahdc1 G A 4: 132,792,739 (GRCm39) G1327S probably benign Het
Bcl2l15 A T 3: 103,740,719 (GRCm39) I62L probably benign Het
Ccdc7a A T 8: 129,785,244 (GRCm39) D105E probably benign Het
Cldn12 C A 5: 5,558,421 (GRCm39) G2V probably damaging Het
Eapp G T 12: 54,720,400 (GRCm39) H272N probably damaging Het
Fcrla A G 1: 170,755,114 (GRCm39) probably benign Het
Fmnl3 C T 15: 99,219,162 (GRCm39) G787S probably damaging Het
Fmo5 G T 3: 97,546,323 (GRCm39) probably null Het
Golgb1 G T 16: 36,733,815 (GRCm39) E1021* probably null Het
Hspa4 A T 11: 53,155,960 (GRCm39) N648K probably benign Het
Iigp1 T C 18: 60,522,896 (GRCm39) F5L probably benign Het
Lad1 T A 1: 135,758,712 (GRCm39) probably null Het
Man2b2 T C 5: 36,975,858 (GRCm39) D399G probably benign Het
Mc5r C T 18: 68,472,286 (GRCm39) T215I probably benign Het
Mx2 A G 16: 97,347,575 (GRCm39) S156G probably damaging Het
Nme8 C T 13: 19,873,120 (GRCm39) E175K probably benign Het
Notch4 T A 17: 34,801,445 (GRCm39) C1098S probably damaging Het
Or1j16 T A 2: 36,530,153 (GRCm39) M34K possibly damaging Het
Or7a42 T C 10: 78,791,434 (GRCm39) Y132H probably benign Het
Osbpl9 A G 4: 108,919,656 (GRCm39) probably benign Het
Prag1 T C 8: 36,607,162 (GRCm39) S968P probably damaging Het
Qsox2 A G 2: 26,110,991 (GRCm39) S125P probably benign Het
Rptn A G 3: 93,304,460 (GRCm39) T598A probably benign Het
Slc2a2 G A 3: 28,780,439 (GRCm39) M375I probably damaging Het
Tmed9 C T 13: 55,744,691 (GRCm39) T173I probably damaging Het
Trank1 A G 9: 111,181,184 (GRCm39) D402G probably damaging Het
Ttc21a G T 9: 119,769,602 (GRCm39) probably benign Het
Vmn2r58 T C 7: 41,511,295 (GRCm39) M503V probably benign Het
Other mutations in Necap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Necap2 APN 4 140,794,879 (GRCm39) missense probably damaging 1.00
IGL01339:Necap2 APN 4 140,802,276 (GRCm39) missense probably benign 0.03
IGL02172:Necap2 APN 4 140,805,621 (GRCm39) unclassified probably benign
R4794:Necap2 UTSW 4 140,798,912 (GRCm39) intron probably benign
R4951:Necap2 UTSW 4 140,799,834 (GRCm39) splice site probably null
R6931:Necap2 UTSW 4 140,805,523 (GRCm39) critical splice donor site probably null
R8377:Necap2 UTSW 4 140,795,534 (GRCm39) missense probably benign 0.00
R8461:Necap2 UTSW 4 140,797,531 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02