Incidental Mutation 'R5881:Necap1'
ID 454418
Institutional Source Beutler Lab
Gene Symbol Necap1
Ensembl Gene ENSMUSG00000030327
Gene Name NECAP endocytosis associated 1
Synonyms 1200016B17Rik
MMRRC Submission 044085-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R5881 (G1)
Quality Score 192
Status Not validated
Chromosome 6
Chromosomal Location 122851516-122865902 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122858503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 115 (D115E)
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: D115E

PolyPhen 2 Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000032477
Gene: ENSMUSG00000030327
AA Change: D115E

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.3%
  • 10x: 94.5%
  • 20x: 78.4%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 A C 11: 95,725,213 (GRCm39) L159W probably damaging Het
Abi3 A T 11: 95,725,214 (GRCm39) L159M probably damaging Het
Adam11 A C 11: 102,664,636 (GRCm39) I406L probably benign Het
Ager G T 17: 34,819,051 (GRCm39) V300L probably damaging Het
Ank3 C T 10: 69,822,660 (GRCm39) S1726L probably benign Het
Boc A G 16: 44,311,014 (GRCm39) I740T probably damaging Het
C8a T A 4: 104,711,129 (GRCm39) D178V probably damaging Het
Ces3a G A 8: 105,777,198 (GRCm39) V174M probably damaging Het
Cisd1 A T 10: 71,172,244 (GRCm39) W13R probably damaging Het
Commd8 A T 5: 72,320,107 (GRCm39) D111E probably benign Het
Ddx60 A T 8: 62,490,104 (GRCm39) D1691V probably damaging Het
Desi2 A G 1: 178,065,479 (GRCm39) Y15C probably damaging Het
Dnmt1 A G 9: 20,864,013 (GRCm39) V24A probably damaging Het
Dock10 G A 1: 80,538,640 (GRCm39) T968M probably benign Het
Dsel A T 1: 111,787,168 (GRCm39) F1122L probably damaging Het
Eml3 T C 19: 8,910,807 (GRCm39) F220L probably damaging Het
Entpd2 A C 2: 25,290,824 (GRCm39) N443H probably damaging Het
Epgn A G 5: 91,176,222 (GRCm39) N36S probably benign Het
Fsip2 G T 2: 82,814,785 (GRCm39) S3506I possibly damaging Het
Gprin3 T C 6: 59,331,771 (GRCm39) S179G probably benign Het
Grifin G T 5: 140,549,342 (GRCm39) H125N possibly damaging Het
H1f9 A G 11: 94,858,989 (GRCm39) T95A possibly damaging Het
Hmcn1 A G 1: 150,506,078 (GRCm39) V3816A probably damaging Het
Hspa14 A G 2: 3,499,207 (GRCm39) F196L probably benign Het
Ice1 T C 13: 70,754,620 (GRCm39) K489E probably benign Het
Jmjd6 C T 11: 116,730,682 (GRCm39) W117* probably null Het
Lrit2 G T 14: 36,794,192 (GRCm39) A419S probably benign Het
Mc3r T C 2: 172,091,092 (GRCm39) S105P probably benign Het
Mccc1 A G 3: 36,018,531 (GRCm39) V601A probably benign Het
Myo1f A G 17: 33,795,627 (GRCm39) D91G probably damaging Het
Myo1f G A 17: 33,799,259 (GRCm39) E255K possibly damaging Het
Or4b12 A T 2: 90,096,786 (GRCm39) probably null Het
Or4k15b G A 14: 50,272,444 (GRCm39) R139C probably benign Het
Or51b6 T A 7: 103,555,883 (GRCm39) M79K probably damaging Het
Papln A G 12: 83,818,652 (GRCm39) E78G probably null Het
Phldb3 T C 7: 24,326,147 (GRCm39) probably null Het
Pkd1l2 A G 8: 117,724,321 (GRCm39) I2394T probably damaging Het
Ppa2 A T 3: 133,036,200 (GRCm39) N118I probably damaging Het
Ppef2 A T 5: 92,398,388 (GRCm39) C43* probably null Het
Pramel51 A G 12: 88,143,111 (GRCm39) L169P probably damaging Het
Rab27a G A 9: 72,992,321 (GRCm39) probably null Het
Rabgap1l A T 1: 160,169,683 (GRCm39) F47I probably damaging Het
Rala A G 13: 18,067,746 (GRCm39) I95T probably damaging Het
Rgl2 A G 17: 34,151,691 (GRCm39) D245G probably benign Het
Rnf34 A T 5: 123,002,146 (GRCm39) T35S probably damaging Het
Ros1 C T 10: 52,057,894 (GRCm39) R51Q probably benign Het
Samd9l T C 6: 3,372,716 (GRCm39) D1515G possibly damaging Het
Scn7a T C 2: 66,505,870 (GRCm39) E1673G probably benign Het
Slc6a20a A C 9: 123,470,773 (GRCm39) probably null Het
Tdrd5 A T 1: 156,122,070 (GRCm39) S280T probably damaging Het
Tent2 A T 13: 93,312,246 (GRCm39) C180* probably null Het
Tie1 T C 4: 118,332,800 (GRCm39) I911V possibly damaging Het
Vipas39 G A 12: 87,298,581 (GRCm39) R194* probably null Het
Ybx3 A C 6: 131,345,451 (GRCm39) N307K possibly damaging Het
Ylpm1 A T 12: 85,088,899 (GRCm39) H1216L probably 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
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
R6247:Necap1 UTSW 6 122,857,611 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- GTTGCATGCTATCTGCTGACTG -3'
(R):5'- TGGGTTTAACCAGGCATCAAC -3'

Sequencing Primer
(F):5'- TATCTGCTGACTGCCGGCC -3'
(R):5'- GGATCTAAAATACCTTACGGGCTG -3'
Posted On 2017-02-10