Incidental Mutation 'IGL01601:Chgb'
ID 91786
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chgb
Ensembl Gene ENSMUSG00000027350
Gene Name chromogranin B
Synonyms Scg-1, secretogranin I
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL01601
Quality Score
Status
Chromosome 2
Chromosomal Location 132623562-132636999 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 132635411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 451 (I451K)
Ref Sequence ENSEMBL: ENSMUSP00000028826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028826]
AlphaFold P16014
Predicted Effect probably benign
Transcript: ENSMUST00000028826
AA Change: I451K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000028826
Gene: ENSMUSG00000027350
AA Change: I451K

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Granin 26 677 8.1e-238 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tyrosine-sulfated secretory protein abundant in peptidergic endocrine cells and neurons. This protein may serve as a precursor for regulatory peptides. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced catecholamine secretion from adrenal chromaffin cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 T C 17: 43,020,940 (GRCm39) D628G probably benign Het
Aldh1l1 T A 6: 90,568,823 (GRCm39) I708N probably damaging Het
Ank3 T A 10: 69,840,555 (GRCm39) F985I possibly damaging Het
Arap2 A G 5: 62,798,685 (GRCm39) W1315R probably damaging Het
Arhgef33 C A 17: 80,655,112 (GRCm39) Q106K probably damaging Het
Atad5 G A 11: 79,986,343 (GRCm39) G477S probably benign Het
Cln6 T A 9: 62,754,252 (GRCm39) I98N probably damaging Het
Commd1 T C 11: 22,849,981 (GRCm39) E234G probably damaging Het
Dock2 C A 11: 34,189,528 (GRCm39) probably null Het
Flrt2 T C 12: 95,746,369 (GRCm39) S236P probably damaging Het
Garnl3 G A 2: 32,887,701 (GRCm39) Q770* probably null Het
Gpr22 C T 12: 31,760,044 (GRCm39) probably benign Het
Hmcn1 A T 1: 150,503,164 (GRCm39) D3880E probably benign Het
Lgals8 T C 13: 12,471,219 (GRCm39) probably benign Het
Mccc1 A G 3: 36,044,101 (GRCm39) V214A probably benign Het
Nat8l T C 5: 34,155,809 (GRCm39) L155P probably damaging Het
Nckipsd A G 9: 108,691,154 (GRCm39) S359G probably benign Het
Pex6 A C 17: 47,034,650 (GRCm39) N785T probably damaging Het
Potefam1 A T 2: 111,023,823 (GRCm39) C104S unknown Het
Ptprz1 T A 6: 23,000,437 (GRCm39) H842Q probably damaging Het
Rhno1 A T 6: 128,335,021 (GRCm39) S101T probably damaging Het
Rnf103 T G 6: 71,486,167 (GRCm39) V266G probably damaging Het
Slc25a39 T C 11: 102,296,544 (GRCm39) D100G probably damaging Het
Sspo T C 6: 48,463,313 (GRCm39) L3746P probably benign Het
Svep1 C T 4: 58,084,872 (GRCm39) G1822E probably damaging Het
Tbl3 T A 17: 24,921,291 (GRCm39) D500V probably damaging Het
Tmc5 T C 7: 118,223,047 (GRCm39) probably benign Het
Usp20 C T 2: 30,901,806 (GRCm39) R524W probably benign Het
Wnk2 G T 13: 49,230,038 (GRCm39) P829T probably damaging Het
Zmiz1 A G 14: 25,582,068 (GRCm39) N84S possibly damaging Het
Other mutations in Chgb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03031:Chgb APN 2 132,635,434 (GRCm39) missense probably benign 0.03
R0317:Chgb UTSW 2 132,635,731 (GRCm39) missense probably benign 0.06
R0513:Chgb UTSW 2 132,627,897 (GRCm39) splice site probably benign
R0607:Chgb UTSW 2 132,635,255 (GRCm39) missense probably benign
R1177:Chgb UTSW 2 132,635,390 (GRCm39) missense possibly damaging 0.55
R1468:Chgb UTSW 2 132,634,720 (GRCm39) missense probably benign 0.00
R1468:Chgb UTSW 2 132,634,720 (GRCm39) missense probably benign 0.00
R1595:Chgb UTSW 2 132,635,657 (GRCm39) missense probably benign 0.22
R1994:Chgb UTSW 2 132,628,418 (GRCm39) missense possibly damaging 0.93
R3861:Chgb UTSW 2 132,635,064 (GRCm39) missense probably damaging 0.99
R4074:Chgb UTSW 2 132,635,847 (GRCm39) missense possibly damaging 0.48
R4354:Chgb UTSW 2 132,635,864 (GRCm39) missense probably damaging 1.00
R4815:Chgb UTSW 2 132,635,219 (GRCm39) missense probably benign 0.27
R4983:Chgb UTSW 2 132,635,602 (GRCm39) missense probably damaging 1.00
R5426:Chgb UTSW 2 132,635,453 (GRCm39) missense possibly damaging 0.63
R5711:Chgb UTSW 2 132,634,618 (GRCm39) missense probably benign 0.00
R5946:Chgb UTSW 2 132,634,516 (GRCm39) missense probably benign
R7116:Chgb UTSW 2 132,623,237 (GRCm39) start gained probably benign
R8978:Chgb UTSW 2 132,634,498 (GRCm39) missense probably benign 0.00
R9033:Chgb UTSW 2 132,634,914 (GRCm39) missense probably damaging 1.00
R9428:Chgb UTSW 2 132,635,154 (GRCm39) missense probably damaging 0.99
Posted On 2013-12-09