Incidental Mutation 'R4074:Chgb'
ID 316442
Institutional Source Beutler Lab
Gene Symbol Chgb
Ensembl Gene ENSMUSG00000027350
Gene Name chromogranin B
Synonyms secretogranin I, Scg-1
MMRRC Submission 040855-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R4074 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 132781278-132795079 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 132793927 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 596 (D596E)
Ref Sequence ENSEMBL: ENSMUSP00000028826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028826]
AlphaFold P16014
Predicted Effect possibly damaging
Transcript: ENSMUST00000028826
AA Change: D596E

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000028826
Gene: ENSMUSG00000027350
AA Change: D596E

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Granin 26 677 8.1e-238 PFAM
Meta Mutation Damage Score 0.2913 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 95% (63/66)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T C 2: 19,480,590 E422G probably damaging Het
5830473C10Rik T A 5: 90,592,868 probably null Het
8430408G22Rik A G 6: 116,652,068 N124S possibly damaging Het
Ace3 A G 11: 105,997,214 Y287C probably damaging Het
Arfgap3 C T 15: 83,303,129 A510T probably damaging Het
Atg12 A G 18: 46,737,424 F92L probably benign Het
Axl A G 7: 25,763,911 probably benign Het
Cmtr2 T A 8: 110,221,217 F53Y possibly damaging Het
Cnot10 A G 9: 114,622,947 F254L possibly damaging Het
Crb2 G T 2: 37,786,843 C251F probably damaging Het
Crybg3 A T 16: 59,555,757 probably benign Het
Cytl1 A G 5: 37,735,596 I17V unknown Het
D930020B18Rik A G 10: 121,656,218 probably benign Het
Dnah11 A G 12: 118,045,678 M2083T probably benign Het
Dst A G 1: 34,192,269 E2656G probably benign Het
Dst T C 1: 34,228,461 F4995L probably damaging Het
Egf C T 3: 129,735,969 R264Q probably benign Het
Eps15l1 A G 8: 72,380,284 I482T probably damaging Het
Eqtn A G 4: 94,919,962 I201T possibly damaging Het
Ero1l A T 14: 45,292,436 probably null Het
Etl4 T C 2: 20,809,219 probably benign Het
Fcho1 T C 8: 71,710,369 H672R probably damaging Het
Glt6d1 T C 2: 25,794,127 D289G probably damaging Het
Gm16427 A T 5: 93,485,198 M50K probably damaging Het
Gm5134 T A 10: 76,008,531 W574R probably damaging Het
Gm5346 A T 8: 43,626,350 F279Y probably damaging Het
Gm5414 T C 15: 101,625,553 N332D probably benign Het
Gnb3 T A 6: 124,836,979 E215D probably benign Het
Ighv1-30 C T 12: 114,817,401 noncoding transcript Het
Ighv1-4 A G 12: 114,487,527 S15P possibly damaging Het
Igkv1-133 T G 6: 67,725,521 Y74* probably null Het
Il17f G A 1: 20,777,763 probably benign Het
Itpr2 C T 6: 146,373,244 probably null Het
Krtap31-1 T C 11: 99,908,232 I87T possibly damaging Het
Lilra6 A T 7: 3,914,890 F85Y probably benign Het
Lrig3 C T 10: 126,013,408 T999I probably benign Het
Myh7b T C 2: 155,618,758 I277T probably damaging Het
Myo3b T C 2: 70,289,464 F984S probably damaging Het
Naip5 G A 13: 100,246,064 R46W probably damaging Het
Nup205 T A 6: 35,192,040 probably null Het
Olfr670 A T 7: 104,960,716 N5K probably damaging Het
Pde11a C T 2: 76,337,898 R237H probably damaging Het
Pdk4 T C 6: 5,491,865 N69S probably benign Het
Pot1a T C 6: 25,752,357 probably null Het
Psg23 A T 7: 18,607,118 S404T possibly damaging Het
Rev1 T G 1: 38,054,238 K1075T possibly damaging Het
Rrbp1 T G 2: 143,963,110 Q1045P probably benign Het
Scg2 A C 1: 79,436,857 F50V probably damaging Het
Sel1l3 A G 5: 53,154,287 Y619H probably damaging Het
Slco1a5 A T 6: 142,268,224 I57K possibly damaging Het
Srp72 C A 5: 76,998,251 T633K probably benign Het
Swt1 A G 1: 151,394,769 V565A probably benign Het
Tesk1 A G 4: 43,443,606 I58V possibly damaging Het
Tm2d3 T A 7: 65,697,750 L49* probably null Het
Tmprss11e T C 5: 86,715,643 T188A possibly damaging Het
Tnxb A G 17: 34,671,871 N396S probably benign Het
Tuba8 T A 6: 121,222,797 S147T probably damaging Het
Usp8 A G 2: 126,752,370 D822G probably damaging Het
Vmn2r13 T A 5: 109,156,700 I622F probably damaging Het
Vmn2r24 A T 6: 123,787,415 H417L possibly damaging Het
Zfp608 A T 18: 54,898,108 V920E probably damaging Het
Zmym2 T C 14: 56,903,004 L100P probably damaging Het
Other mutations in Chgb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01601:Chgb APN 2 132793491 missense probably benign 0.00
IGL03031:Chgb APN 2 132793514 missense probably benign 0.03
R0317:Chgb UTSW 2 132793811 missense probably benign 0.06
R0513:Chgb UTSW 2 132785977 splice site probably benign
R0607:Chgb UTSW 2 132793335 missense probably benign
R1177:Chgb UTSW 2 132793470 missense possibly damaging 0.55
R1468:Chgb UTSW 2 132792800 missense probably benign 0.00
R1468:Chgb UTSW 2 132792800 missense probably benign 0.00
R1595:Chgb UTSW 2 132793737 missense probably benign 0.22
R1994:Chgb UTSW 2 132786498 missense possibly damaging 0.93
R3861:Chgb UTSW 2 132793144 missense probably damaging 0.99
R4354:Chgb UTSW 2 132793944 missense probably damaging 1.00
R4815:Chgb UTSW 2 132793299 missense probably benign 0.27
R4983:Chgb UTSW 2 132793682 missense probably damaging 1.00
R5426:Chgb UTSW 2 132793533 missense possibly damaging 0.63
R5711:Chgb UTSW 2 132792698 missense probably benign 0.00
R5946:Chgb UTSW 2 132792596 missense probably benign
R7116:Chgb UTSW 2 132781317 start gained probably benign
R8978:Chgb UTSW 2 132792578 missense probably benign 0.00
R9033:Chgb UTSW 2 132792994 missense probably damaging 1.00
R9428:Chgb UTSW 2 132793234 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGCAACCCAGATGACAGTTTTC -3'
(R):5'- AGGGGCACTCACATTCTCAC -3'

Sequencing Primer
(F):5'- CAACCCAGATGACAGTTTTCTTGAGG -3'
(R):5'- CCGTTATCAGACATGTTGATGC -3'
Posted On 2015-05-15