Incidental Mutation 'R4455:Necap1'
ID 329139
Institutional Source Beutler Lab
Gene Symbol Necap1
Ensembl Gene ENSMUSG00000030327
Gene Name NECAP endocytosis associated 1
Synonyms 1200016B17Rik
MMRRC Submission 041715-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R4455 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 122851516-122865902 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 122864328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 270 (S270F)
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 possibly damaging
Transcript: ENSMUST00000032477
AA Change: S270F

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032477
Gene: ENSMUSG00000030327
AA Change: S270F

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
Meta Mutation Damage Score 0.0978 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (61/61)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A G 9: 108,274,395 (GRCm39) H166R possibly damaging Het
Aktip T C 8: 91,851,479 (GRCm39) E248G probably benign Het
Ankk1 A G 9: 49,329,366 (GRCm39) V336A probably benign Het
Aoc1 T A 6: 48,882,401 (GRCm39) D92E probably damaging Het
Aoc1l3 A T 6: 48,964,394 (GRCm39) N134I possibly damaging Het
Arfgef2 T C 2: 166,736,635 (GRCm39) I1769T probably benign Het
Arfgef3 A T 10: 18,483,423 (GRCm39) S1434T probably benign Het
Baz1a C A 12: 54,958,153 (GRCm39) V1033L probably benign Het
Bbs12 T C 3: 37,374,461 (GRCm39) V418A probably damaging Het
Cacnb4 A G 2: 52,355,665 (GRCm39) V214A probably damaging Het
Calhm6 A T 10: 34,002,531 (GRCm39) I184N probably damaging Het
Camk2d T C 3: 126,574,052 (GRCm39) V153A probably damaging Het
Ccdc18 C T 5: 108,309,395 (GRCm39) S330L possibly damaging Het
Cdh11 T C 8: 103,374,455 (GRCm39) D500G probably benign Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Clca4a G A 3: 144,663,020 (GRCm39) P610S probably damaging Het
Dctn1 T C 6: 83,172,031 (GRCm39) L807P probably damaging Het
Dop1b T C 16: 93,563,103 (GRCm39) L869P probably damaging Het
Egr2 GAA GA 10: 67,375,733 (GRCm39) probably null Het
Eya1 C T 1: 14,253,420 (GRCm39) V519M probably damaging Het
Fam227b T A 2: 125,988,188 (GRCm39) probably benign Het
Fsip2 G T 2: 82,821,120 (GRCm39) A5618S possibly damaging Het
Grb10 T G 11: 11,917,665 (GRCm39) Q72P possibly damaging Het
H3f3a G T 1: 180,630,668 (GRCm39) R129S probably benign Het
Hfm1 T C 5: 107,034,374 (GRCm39) probably null Het
Kansl1 T C 11: 104,315,184 (GRCm39) T285A possibly damaging Het
Krtap16-1 A T 11: 99,876,559 (GRCm39) C282S probably benign Het
Magi1 A G 6: 93,762,438 (GRCm39) V89A probably damaging Het
Mllt1 A G 17: 57,226,965 (GRCm39) Y71H probably damaging Het
Ms4a14 T A 19: 11,280,990 (GRCm39) T523S possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Muc5b T C 7: 141,412,555 (GRCm39) S1834P unknown Het
Piwil2 T C 14: 70,628,014 (GRCm39) M752V probably benign Het
Prune1 G A 3: 95,189,207 (GRCm39) probably null Het
Ptpro A G 6: 137,370,657 (GRCm39) E586G probably damaging Het
Rela T A 19: 5,697,290 (GRCm39) I499K probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Scara5 T A 14: 66,000,196 (GRCm39) D455E probably benign Het
Slc2a4 G A 11: 69,834,148 (GRCm39) probably benign Het
Sntb2 G A 8: 107,718,239 (GRCm39) probably null Het
Sspo C T 6: 48,442,450 (GRCm39) R1982C probably damaging Het
Tsen34 G A 7: 3,698,097 (GRCm39) probably null Het
Ttc28 AC A 5: 111,371,924 (GRCm39) probably null Het
Ttn T C 2: 76,777,257 (GRCm39) M1382V probably benign Het
Utp18 G A 11: 93,776,273 (GRCm39) R71C probably benign Het
Xrn1 T A 9: 95,855,698 (GRCm39) probably benign Het
Yeats2 A G 16: 19,980,743 (GRCm39) K187R 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
R5347:Necap1 UTSW 6 122,857,706 (GRCm39) missense probably benign 0.01
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'- ATAGTCTGGGAAGCAGCTGC -3'
(R):5'- ATCCAGCCTGAATGCACAGAG -3'

Sequencing Primer
(F):5'- TCGGTAGGAGGTCTAGGGAGC -3'
(R):5'- CCTGAATGCACAGAGAAGCTACG -3'
Posted On 2015-07-21