Incidental Mutation 'R1842:Necap1'
ID 205812
Institutional Source Beutler Lab
Gene Symbol Necap1
Ensembl Gene ENSMUSG00000030327
Gene Name NECAP endocytosis associated 1
Synonyms 1200016B17Rik
MMRRC Submission 039867-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # R1842 (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 122851547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 7 (Y7C)
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 damaging
Transcript: ENSMUST00000032477
AA Change: Y7C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032477
Gene: ENSMUSG00000030327
AA Change: Y7C

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: 97.4%
  • 3x: 96.7%
  • 10x: 94.8%
  • 20x: 90.8%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 G T 11: 110,087,865 (GRCm39) N1087K probably benign Het
Abcc3 G A 11: 94,250,438 (GRCm39) T921I probably benign Het
Abr T A 11: 76,399,812 (GRCm39) I4F probably damaging Het
Adcy10 T A 1: 165,330,812 (GRCm39) V25D probably damaging Het
Ahnak T A 19: 8,983,231 (GRCm39) M1505K probably damaging Het
Alms1-ps2 T C 6: 85,773,231 (GRCm39) noncoding transcript Het
Apob C G 12: 8,061,559 (GRCm39) T3347S probably damaging Het
Arhgap27 C A 11: 103,230,822 (GRCm39) G11W probably damaging Het
Ccdc110 A T 8: 46,393,605 (GRCm39) I106F probably damaging Het
Ccdc28b T A 4: 129,514,806 (GRCm39) D101V probably damaging Het
Ccdc30 T C 4: 119,188,324 (GRCm39) E566G probably benign Het
Cenpm T C 15: 82,123,565 (GRCm39) S111G probably benign Het
Cep55 A G 19: 38,046,348 (GRCm39) I34V probably benign Het
Dcdc2a T C 13: 25,291,585 (GRCm39) L190S probably damaging Het
Dhh T C 15: 98,792,441 (GRCm39) probably null Het
Dst A G 1: 34,203,200 (GRCm39) N703S probably null Het
E030025P04Rik G A 11: 109,030,396 (GRCm39) L164F unknown Het
Efcab5 A G 11: 77,025,701 (GRCm39) V538A probably benign Het
Egflam A G 15: 7,333,422 (GRCm39) S177P probably benign Het
Ehbp1l1 A T 19: 5,775,958 (GRCm39) C31S probably damaging Het
Eif2d C A 1: 131,098,797 (GRCm39) Q532K probably damaging Het
Elf3 T C 1: 135,184,531 (GRCm39) D175G possibly damaging Het
F5 T C 1: 164,012,129 (GRCm39) V449A probably damaging Het
Fam110a A T 2: 151,811,954 (GRCm39) I272N probably damaging Het
Fbxo34 A G 14: 47,768,464 (GRCm39) D608G probably damaging Het
Flrt2 T C 12: 95,746,058 (GRCm39) L132P probably damaging Het
Frg2f1 A T 4: 119,388,277 (GRCm39) V74D possibly damaging Het
Gad1 G T 2: 70,404,597 (GRCm39) E162D probably benign Het
Glb1l A G 1: 75,177,104 (GRCm39) V444A probably damaging Het
Gm10770 G A 2: 150,021,076 (GRCm39) T147I probably damaging Het
Gm43302 T C 5: 105,425,602 (GRCm39) I276V probably benign Het
Greb1 T C 12: 16,746,244 (GRCm39) H1314R probably damaging Het
Hapln2 A G 3: 87,931,308 (GRCm39) V69A probably damaging Het
Hcn1 T C 13: 118,112,544 (GRCm39) I836T probably damaging Het
Hspa5 A G 2: 34,665,815 (GRCm39) D553G probably damaging Het
Iqgap1 A T 7: 80,410,631 (GRCm39) I194N probably damaging Het
Kansl3 A G 1: 36,390,825 (GRCm39) V304A probably damaging Het
Kdm5d C T Y: 927,798 (GRCm39) S716L probably damaging Het
Klra6 T C 6: 129,999,573 (GRCm39) T132A probably benign Het
Krt26 CTAGTA CTA 11: 99,224,352 (GRCm39) probably benign Het
Lrp1 A G 10: 127,409,337 (GRCm39) I1594T possibly damaging Het
Lrp2bp A G 8: 46,464,152 (GRCm39) D15G probably benign Het
Map4k1 T C 7: 28,686,588 (GRCm39) L170P probably damaging Het
Mast3 A G 8: 71,233,037 (GRCm39) F1108L possibly damaging Het
Mettl5 G T 2: 69,715,686 (GRCm39) L6I unknown Het
Mfsd14a A T 3: 116,426,057 (GRCm39) F447I possibly damaging Het
Mrc2 A G 11: 105,228,546 (GRCm39) I642V probably damaging Het
Nsd1 G A 13: 55,394,258 (GRCm39) E723K probably damaging Het
Nsun3 A T 16: 62,596,755 (GRCm39) L121H probably damaging Het
Nsun6 A T 2: 15,014,288 (GRCm39) M284K probably damaging Het
Nutf2 T C 8: 106,603,242 (GRCm39) probably null Het
Odad2 A T 18: 7,223,551 (GRCm39) D497E probably benign Het
Or1j20 A T 2: 36,759,601 (GRCm39) N8Y probably damaging Het
Or5d38 A T 2: 87,954,471 (GRCm39) M286K probably damaging Het
Pacs1 T C 19: 5,205,912 (GRCm39) E288G probably damaging Het
Peg10 A T 6: 4,756,381 (GRCm39) probably benign Het
Rab38 G A 7: 88,099,730 (GRCm39) E82K possibly damaging Het
Rgsl1 T A 1: 153,675,543 (GRCm39) E206V probably damaging Het
Saxo5 T A 8: 3,533,668 (GRCm39) F295L possibly damaging Het
Scube3 G A 17: 28,384,063 (GRCm39) V521I probably damaging Het
Sgpp1 C T 12: 75,762,982 (GRCm39) V400M probably damaging Het
Slc18b1 T C 10: 23,681,891 (GRCm39) S152P possibly damaging Het
Slit1 A T 19: 41,709,477 (GRCm39) probably null Het
Spata31d1e T C 13: 59,890,320 (GRCm39) Y82C probably damaging Het
Spta1 A G 1: 174,023,513 (GRCm39) K640R probably benign Het
Svil A G 18: 5,062,373 (GRCm39) T898A probably damaging Het
Timm44 A G 8: 4,310,510 (GRCm39) probably null Het
Tomm40 A G 7: 19,447,650 (GRCm39) S127P probably benign Het
Vmn2r23 T A 6: 123,706,649 (GRCm39) V493D possibly damaging Het
Yeats2 T C 16: 19,989,988 (GRCm39) V288A probably damaging Het
Zfhx4 C T 3: 5,466,558 (GRCm39) R2239W probably damaging Het
Zscan2 A C 7: 80,525,301 (GRCm39) K341Q 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
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
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'- CGTTACTCAAGATGGCGAGC -3'
(R):5'- AGGAGCAGACGATGTCTCAG -3'

Sequencing Primer
(F):5'- CGAGCCAGGCGCATCAG -3'
(R):5'- AAGTAGACGGAGCCGCC -3'
Posted On 2014-06-23