Incidental Mutation 'IGL03323:Necap2'
ID416560
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Necap2
Ensembl Gene ENSMUSG00000028923
Gene NameNECAP endocytosis associated 2
Synonyms1110005F07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL03323
Quality Score
Status
Chromosome4
Chromosomal Location141066512-141078357 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 141068222 bp
ZygosityHeterozygous
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]
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: ENSMUST00000149178
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152915
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: 103,055,294 D418V probably damaging Het
Ahdc1 G A 4: 133,065,428 G1327S probably benign Het
Bcl2l15 A T 3: 103,833,403 I62L probably benign Het
Ccdc7a A T 8: 129,058,763 D105E probably benign Het
Cldn12 C A 5: 5,508,421 G2V probably damaging Het
Eapp G T 12: 54,673,615 H272N probably damaging Het
Fcrla A G 1: 170,927,545 probably benign Het
Fmnl3 C T 15: 99,321,281 G787S probably damaging Het
Fmo5 G T 3: 97,639,007 probably null Het
Golgb1 G T 16: 36,913,453 E1021* probably null Het
Hspa4 A T 11: 53,265,133 N648K probably benign Het
Iigp1 T C 18: 60,389,824 F5L probably benign Het
Lad1 T A 1: 135,830,974 probably null Het
Man2b2 T C 5: 36,818,514 D399G probably benign Het
Mc5r C T 18: 68,339,215 T215I probably benign Het
Mx2 A G 16: 97,546,375 S156G probably damaging Het
Nme8 C T 13: 19,688,950 E175K probably benign Het
Notch4 T A 17: 34,582,471 C1098S probably damaging Het
Olfr345 T A 2: 36,640,141 M34K possibly damaging Het
Olfr8 T C 10: 78,955,600 Y132H probably benign Het
Osbpl9 A G 4: 109,062,459 probably benign Het
Prag1 T C 8: 36,140,008 S968P probably damaging Het
Qsox2 A G 2: 26,220,979 S125P probably benign Het
Rptn A G 3: 93,397,153 T598A probably benign Het
Slc2a2 G A 3: 28,726,290 M375I probably damaging Het
Tmed9 C T 13: 55,596,878 T173I probably damaging Het
Trank1 A G 9: 111,352,116 D402G probably damaging Het
Ttc21a G T 9: 119,940,536 probably benign Het
Vmn2r58 T C 7: 41,861,871 M503V probably benign Het
Other mutations in Necap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Necap2 APN 4 141067568 missense probably damaging 1.00
IGL01339:Necap2 APN 4 141074965 missense probably benign 0.03
IGL02172:Necap2 APN 4 141078310 unclassified probably benign
R4794:Necap2 UTSW 4 141071601 intron probably benign
R4951:Necap2 UTSW 4 141072523 splice site probably null
R6931:Necap2 UTSW 4 141078212 critical splice donor site probably null
Posted On2016-08-02