Incidental Mutation 'IGL01527:Gap43'
ID89590
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gap43
Ensembl Gene ENSMUSG00000047261
Gene Namegrowth associated protein 43
SynonymsB-50, Basp2, GAP-43, neuromodulin
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01527
Quality Score
Status
Chromosome16
Chromosomal Location42248442-42340651 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 42292153 bp
ZygosityHeterozygous
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]
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: 35,567,833 probably null Het
Abca13 T A 11: 9,290,788 W884R possibly damaging Het
Ahi1 T C 10: 20,960,085 probably benign Het
Ankfn1 G T 11: 89,391,639 P394Q probably benign Het
AW549877 T C 15: 3,988,683 Y170C probably damaging Het
Cacnb2 T C 2: 14,984,270 I393T possibly damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Col22a1 T C 15: 71,907,031 E269G probably damaging Het
Cyp24a1 A G 2: 170,496,566 L70P probably damaging Het
Cyp8b1 T C 9: 121,914,995 K424E probably damaging Het
Dicer1 G A 12: 104,691,610 Q1902* probably null Het
Dst T A 1: 34,247,653 L544Q probably damaging Het
Esrp2 T C 8: 106,132,233 T591A probably benign Het
Kif17 G A 4: 138,269,086 V125I probably benign Het
Lancl2 T C 6: 57,732,322 S370P probably damaging Het
Macf1 T C 4: 123,493,160 I203V possibly damaging Het
Mphosph9 A G 5: 124,283,624 probably benign Het
Ncapg A G 5: 45,672,384 I143V possibly damaging Het
Nr3c1 A G 18: 39,486,637 V199A probably benign Het
Obscn T A 11: 59,064,417 N3890I possibly damaging Het
Olfr130 A G 17: 38,068,095 N308S probably benign Het
Olfr669 T A 7: 104,938,991 V155E possibly damaging Het
Olfr92 A T 17: 37,111,809 Y58N probably damaging Het
Olfr951 A G 9: 39,393,818 H6R probably benign Het
Palmd C A 3: 116,927,188 E166* probably null Het
Pdzd2 T C 15: 12,445,664 E327G probably damaging Het
Pex13 T C 11: 23,656,111 T40A probably benign Het
Pkd2 T C 5: 104,498,884 probably benign Het
Plb1 A G 5: 32,317,123 T643A probably damaging Het
Prlr T A 15: 10,329,171 D577E probably benign Het
Slc44a3 A G 3: 121,527,128 C75R probably damaging Het
Susd6 A T 12: 80,874,319 N230I possibly damaging Het
Tbx10 A G 19: 3,998,227 R251G probably damaging Het
Ttc30a1 T C 2: 75,980,516 I408V probably benign Het
Uap1l1 A G 2: 25,363,804 probably null Het
Ugt2b5 A G 5: 87,136,209 V308A possibly damaging Het
Usp28 C A 9: 49,025,873 H147Q probably benign Het
Vmn1r203 T C 13: 22,524,277 I76T possibly damaging Het
Vmn2r104 A G 17: 20,042,896 I101T possibly damaging Het
Vmn2r17 T A 5: 109,453,140 L768H probably damaging Het
Other mutations in Gap43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02354:Gap43 APN 16 42340508 start gained probably benign
IGL02361:Gap43 APN 16 42340508 start gained probably benign
IGL02563:Gap43 APN 16 42292132 missense probably benign 0.00
R0531:Gap43 UTSW 16 42292328 missense probably damaging 1.00
R1118:Gap43 UTSW 16 42291804 missense probably benign 0.00
R2039:Gap43 UTSW 16 42292352 missense possibly damaging 0.80
R4739:Gap43 UTSW 16 42292218 missense probably benign 0.00
R6044:Gap43 UTSW 16 42292187 missense probably benign 0.01
R7299:Gap43 UTSW 16 42292252 missense probably damaging 1.00
Posted On2013-12-03