Incidental Mutation 'R5347:Necap1'
ID 422667
Institutional Source Beutler Lab
Gene Symbol Necap1
Ensembl Gene ENSMUSG00000030327
Gene Name NECAP endocytosis associated 1
Synonyms 1200016B17Rik
MMRRC Submission 042926-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # R5347 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 122851516-122865902 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122857706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 96 (I96V)
Ref Sequence ENSEMBL: ENSMUSP00000032477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032477]
AlphaFold Q9CR95
PDB Structure Solution structure of NECAP1 protein [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000032477
AA Change: I96V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000032477
Gene: ENSMUSG00000030327
AA Change: I96V

DomainStartEndE-ValueType
Pfam:DUF1681 7 164 1.5e-59 PFAM
low complexity region 182 200 N/A INTRINSIC
low complexity region 233 248 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203394
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203715
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing two characteristic WXXF motifs. The encoded protein localizes to clathrin-coated vesicles, where it binds components of the adapter protein complexes and aids in endocytosis. Loss of function of this gene results in early infantile epileptic encephalopathy-21. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a A G 2: 48,782,166 (GRCm39) Y233C probably damaging Het
Agl A G 3: 116,584,814 (GRCm39) S169P probably damaging Het
Arid1b C T 17: 5,341,332 (GRCm39) Q879* probably null Het
Bbs2 A G 8: 94,819,178 (GRCm39) S64P probably damaging Het
Bend7 G A 2: 4,768,052 (GRCm39) R336Q probably damaging Het
Cacna2d2 A G 9: 107,391,313 (GRCm39) T447A probably benign Het
Ccdc168 T A 1: 44,096,955 (GRCm39) Y1381F probably benign Het
Ccdc169 A T 3: 55,049,740 (GRCm39) probably benign Het
Cdan1 A G 2: 120,560,546 (GRCm39) S275P possibly damaging Het
Cdh15 A G 8: 123,588,802 (GRCm39) N292S probably null Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cnnm1 A G 19: 43,430,301 (GRCm39) H473R probably benign Het
Cplx4 G A 18: 66,103,157 (GRCm39) probably benign Het
Crb1 C T 1: 139,265,109 (GRCm39) G103E probably damaging Het
Dnaja3 T A 16: 4,512,346 (GRCm39) V250E possibly damaging Het
Dync2h1 T G 9: 7,129,727 (GRCm39) Q1757P probably damaging Het
Edem3 A G 1: 151,683,202 (GRCm39) Q626R probably damaging Het
Eif2b1 T C 5: 124,716,862 (GRCm39) probably benign Het
Esf1 T A 2: 139,996,801 (GRCm39) K521* probably null Het
Fbxl3 A C 14: 103,320,730 (GRCm39) V239G probably damaging Het
Fhip2a A G 19: 57,367,051 (GRCm39) D198G probably benign Het
Fto A G 8: 92,118,107 (GRCm39) probably benign Het
Gm5773 T C 3: 93,681,090 (GRCm39) L254P probably damaging Het
Gm5916 A T 9: 36,032,012 (GRCm39) W91R probably benign Het
Gpam A T 19: 55,077,269 (GRCm39) L174H probably damaging Het
Grk1 G A 8: 13,464,478 (GRCm39) R450Q probably damaging Het
Hc G A 2: 34,927,636 (GRCm39) A326V probably benign Het
Hectd4 T C 5: 121,442,511 (GRCm39) I1317T probably benign Het
Hlcs A G 16: 94,068,383 (GRCm39) V426A possibly damaging Het
Ighv1-23 T C 12: 114,728,376 (GRCm39) probably benign Het
Itgax G A 7: 127,740,474 (GRCm39) V754I probably benign Het
Krt24 T A 11: 99,173,556 (GRCm39) D255V probably damaging Het
Lnpk T C 2: 74,403,935 (GRCm39) probably benign Het
Loxhd1 G T 18: 77,454,237 (GRCm39) R478L probably damaging Het
Lrrc56 A G 7: 140,789,537 (GRCm39) Q518R probably benign Het
Mbl1 A T 14: 40,880,786 (GRCm39) I225F probably damaging Het
Mmp21 T C 7: 133,277,651 (GRCm39) S392G probably benign Het
Mug2 T G 6: 122,058,551 (GRCm39) F1318V probably damaging Het
Myo5c A G 9: 75,202,487 (GRCm39) N1447S probably null Het
Nbea A C 3: 55,948,297 (GRCm39) V543G probably damaging Het
Nr3c2 T A 8: 77,937,377 (GRCm39) M872K possibly damaging Het
Nrf1 C T 6: 30,118,967 (GRCm39) T362M probably benign Het
Or14j2 T C 17: 37,885,618 (GRCm39) E232G probably damaging Het
Pcare A G 17: 72,056,930 (GRCm39) S916P probably benign Het
Plekhm3 T C 1: 64,859,149 (GRCm39) E685G probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sbk3 A T 7: 4,970,422 (GRCm39) S316T probably benign Het
Serpinb9e T C 13: 33,441,767 (GRCm39) L233P probably damaging Het
Set T A 2: 29,959,422 (GRCm39) S132T possibly damaging Het
Slc17a4 C T 13: 24,092,800 (GRCm39) E11K possibly damaging Het
Slc22a6 T A 19: 8,595,917 (GRCm39) N86K possibly damaging Het
Slco1a6 A G 6: 142,032,325 (GRCm39) L600P probably damaging Het
Sp8 A G 12: 118,812,246 (GRCm39) K34E possibly damaging Het
Spen T A 4: 141,198,796 (GRCm39) E3254V probably benign Het
Tcf12 G A 9: 71,792,525 (GRCm39) P53S probably damaging Het
Tcf3 A G 10: 80,246,045 (GRCm39) V626A probably damaging Het
Trpc4ap A G 2: 155,514,908 (GRCm39) probably null Het
Ttc3 T A 16: 94,230,479 (GRCm39) V892D probably damaging Het
Tub G T 7: 108,625,978 (GRCm39) R243L possibly damaging Het
Tubgcp5 A G 7: 55,473,433 (GRCm39) Y837C probably damaging Het
Utp25 A T 1: 192,810,687 (GRCm39) D105E probably benign Het
Wdhd1 A T 14: 47,506,181 (GRCm39) Y244* probably null Het
Xdh T A 17: 74,232,027 (GRCm39) T228S probably benign Het
Zfp418 A C 7: 7,185,534 (GRCm39) Q499P probably benign Het
Zfpm1 G A 8: 123,062,269 (GRCm39) E443K possibly damaging Het
Zfy1 T C Y: 725,950 (GRCm39) H605R possibly damaging Het
Other mutations in Necap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03331:Necap1 APN 6 122,857,376 (GRCm39) missense probably benign 0.40
R0364:Necap1 UTSW 6 122,857,728 (GRCm39) splice site probably benign
R0788:Necap1 UTSW 6 122,858,495 (GRCm39) missense probably damaging 1.00
R1281:Necap1 UTSW 6 122,851,573 (GRCm39) missense possibly damaging 0.72
R1842:Necap1 UTSW 6 122,851,547 (GRCm39) missense probably damaging 1.00
R4367:Necap1 UTSW 6 122,864,337 (GRCm39) missense probably damaging 0.99
R4455:Necap1 UTSW 6 122,864,328 (GRCm39) missense possibly damaging 0.94
R5570:Necap1 UTSW 6 122,858,471 (GRCm39) missense probably damaging 0.99
R5881:Necap1 UTSW 6 122,858,503 (GRCm39) missense probably benign 0.42
R6247:Necap1 UTSW 6 122,857,611 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TCTCCTCAGCTAAGGACTGG -3'
(R):5'- ACCCAAAATACCATGCTCTCTTTTG -3'

Sequencing Primer
(F):5'- TCAGCTAAGGACTGGCGTGG -3'
(R):5'- CCATGCTCTCTTTTGTTAAATAAGC -3'
Posted On 2016-08-04