Incidental Mutation 'IGL01527:Gap43'
ID 89590
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gap43
Ensembl Gene ENSMUSG00000047261
Gene Name growth associated protein 43
Synonyms B-50, neuromodulin, GAP-43, Basp2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01527
Quality Score
Status
Chromosome 16
Chromosomal Location 42068915-42161014 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 42112516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 82 (E82K)
Ref Sequence ENSEMBL: ENSMUSP00000099881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102817]
AlphaFold P06837
PDB Structure Calmodulin and Nm peptide complex [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000102817
AA Change: E82K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099881
Gene: ENSMUSG00000047261
AA Change: E82K

DomainStartEndE-ValueType
IQ 30 52 1.31e-5 SMART
Pfam:Neuromodulin 66 227 1.9e-62 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has been termed a 'growth' or 'plasticity' protein because it is expressed at high levels in neuronal growth cones during development and axonal regeneration. This protein is considered a crucial component of an effective regenerative response in the nervous system. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality, abnormal optic nerve innervation, and decreased body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik G T 17: 35,878,730 (GRCm39) probably null Het
Abca13 T A 11: 9,240,788 (GRCm39) W884R possibly damaging Het
Ahi1 T C 10: 20,835,984 (GRCm39) probably benign Het
Ankfn1 G T 11: 89,282,465 (GRCm39) P394Q probably benign Het
Cacnb2 T C 2: 14,989,081 (GRCm39) I393T possibly damaging Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Col22a1 T C 15: 71,778,880 (GRCm39) E269G probably damaging Het
Cyp24a1 A G 2: 170,338,486 (GRCm39) L70P probably damaging Het
Cyp8b1 T C 9: 121,744,061 (GRCm39) K424E probably damaging Het
Dicer1 G A 12: 104,657,869 (GRCm39) Q1902* probably null Het
Dst T A 1: 34,286,734 (GRCm39) L544Q probably damaging Het
Esrp2 T C 8: 106,858,865 (GRCm39) T591A probably benign Het
Ift70a1 T C 2: 75,810,860 (GRCm39) I408V probably benign Het
Kif17 G A 4: 137,996,397 (GRCm39) V125I probably benign Het
Lancl2 T C 6: 57,709,307 (GRCm39) S370P probably damaging Het
Macf1 T C 4: 123,386,953 (GRCm39) I203V possibly damaging Het
Mphosph9 A G 5: 124,421,687 (GRCm39) probably benign Het
Ncapg A G 5: 45,829,726 (GRCm39) I143V possibly damaging Het
Nr3c1 A G 18: 39,619,690 (GRCm39) V199A probably benign Het
Obscn T A 11: 58,955,243 (GRCm39) N3890I possibly damaging Het
Or2g7 A G 17: 38,378,986 (GRCm39) N308S probably benign Het
Or2h2c A T 17: 37,422,701 (GRCm39) Y58N probably damaging Het
Or52n5 T A 7: 104,588,198 (GRCm39) V155E possibly damaging Het
Or8g32 A G 9: 39,305,114 (GRCm39) H6R probably benign Het
Palmd C A 3: 116,720,837 (GRCm39) E166* probably null Het
Pdzd2 T C 15: 12,445,750 (GRCm39) E327G probably damaging Het
Pex13 T C 11: 23,606,111 (GRCm39) T40A probably benign Het
Pkd2 T C 5: 104,646,750 (GRCm39) probably benign Het
Plb1 A G 5: 32,474,467 (GRCm39) T643A probably damaging Het
Prlr T A 15: 10,329,257 (GRCm39) D577E probably benign Het
Rimoc1 T C 15: 4,018,165 (GRCm39) Y170C probably damaging Het
Slc44a3 A G 3: 121,320,777 (GRCm39) C75R probably damaging Het
Susd6 A T 12: 80,921,093 (GRCm39) N230I possibly damaging Het
Tbx10 A G 19: 4,048,227 (GRCm39) R251G probably damaging Het
Uap1l1 A G 2: 25,253,816 (GRCm39) probably null Het
Ugt2b5 A G 5: 87,284,068 (GRCm39) V308A possibly damaging Het
Usp28 C A 9: 48,937,173 (GRCm39) H147Q probably benign Het
Vmn1r203 T C 13: 22,708,447 (GRCm39) I76T possibly damaging Het
Vmn2r104 A G 17: 20,263,158 (GRCm39) I101T possibly damaging Het
Vmn2r17 T A 5: 109,601,006 (GRCm39) L768H probably damaging Het
Other mutations in Gap43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02354:Gap43 APN 16 42,160,871 (GRCm39) start gained probably benign
IGL02361:Gap43 APN 16 42,160,871 (GRCm39) start gained probably benign
IGL02563:Gap43 APN 16 42,112,495 (GRCm39) missense probably benign 0.00
R0531:Gap43 UTSW 16 42,112,691 (GRCm39) missense probably damaging 1.00
R1118:Gap43 UTSW 16 42,112,167 (GRCm39) missense probably benign 0.00
R2039:Gap43 UTSW 16 42,112,715 (GRCm39) missense possibly damaging 0.80
R4739:Gap43 UTSW 16 42,112,581 (GRCm39) missense probably benign 0.00
R6044:Gap43 UTSW 16 42,112,550 (GRCm39) missense probably benign 0.01
R7299:Gap43 UTSW 16 42,112,615 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03