Incidental Mutation 'R1164:Chga'
ID 100846
Institutional Source Beutler Lab
Gene Symbol Chga
Ensembl Gene ENSMUSG00000021194
Gene Name chromogranin A
Synonyms ChrA
MMRRC Submission 039237-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R1164 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 102521228-102531287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102529304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 427 (E427G)
Ref Sequence ENSEMBL: ENSMUSP00000021610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021610]
AlphaFold P26339
Predicted Effect probably damaging
Transcript: ENSMUST00000021610
AA Change: E427G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021610
Gene: ENSMUSG00000021194
AA Change: E427G

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Granin 25 95 3e-26 PFAM
Pfam:Granin 87 463 1.7e-95 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223100
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the granin family of acidic secretory glycoproteins that are expressed in endocrine cells and neurons. The encoded preproprotein undergoes proteolytic processing to generate multiple functions peptides including pancreastatin, catestatin and serpinin. The encoded protein plays important roles in the neuroendocrine system including regulated secretion of peptide hormones and neurotransmitters. Mice lacking the encoded protein exhibit elevated blood pressure which can be rescued by transgenic expression of the human ortholog. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygotes and heterozygotes for one allele display hypertension, abnormal plasma and adrenal adrenaline and noradrenaline levels and, in homozygotes, partial embryonic lethality. Homozygotes for a second allele only have elevated urinary adrenaline, noradrenaline and dopamine levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,621,305 (GRCm39) M1055K probably damaging Het
Adprh A T 16: 38,270,702 (GRCm39) D34E probably benign Het
Aldh1a1 A T 19: 20,595,310 (GRCm39) M80L probably benign Het
Arap2 T A 5: 62,840,820 (GRCm39) D682V probably damaging Het
Atp4a T A 7: 30,417,117 (GRCm39) L500Q probably benign Het
Atp6v1c2 T C 12: 17,358,317 (GRCm39) E10G probably damaging Het
B4galt2 G A 4: 117,734,141 (GRCm39) R299W possibly damaging Het
Bltp3a T C 17: 28,114,354 (GRCm39) probably null Het
Brinp1 A C 4: 68,716,928 (GRCm39) S307A probably benign Het
Cacna2d1 G A 5: 16,566,874 (GRCm39) probably null Het
Ccdc3 T C 2: 5,146,077 (GRCm39) V137A possibly damaging Het
Ccnb1ip1 T C 14: 51,029,594 (GRCm39) K156R possibly damaging Het
Cfap77 A T 2: 28,852,700 (GRCm39) W191R probably damaging Het
Chrnd A T 1: 87,120,267 (GRCm39) Y32F probably benign Het
Cks1b C A 3: 89,323,249 (GRCm39) probably benign Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dip2a C A 10: 76,112,231 (GRCm39) R1098L possibly damaging Het
Dmbx1 T A 4: 115,775,455 (GRCm39) H275L probably damaging Het
Dmrt2 A G 19: 25,655,357 (GRCm39) M319V possibly damaging Het
Dock8 A G 19: 25,067,391 (GRCm39) Y345C probably benign Het
Dpp6 A G 5: 27,926,103 (GRCm39) T668A probably benign Het
Eef1d A G 15: 75,774,526 (GRCm39) probably null Het
Epb41l3 A G 17: 69,581,762 (GRCm39) T568A possibly damaging Het
Erc2 A G 14: 28,024,929 (GRCm39) R603G probably damaging Het
Fam83d T C 2: 158,625,170 (GRCm39) S254P probably damaging Het
Fcgr4 A T 1: 170,856,739 (GRCm39) H202L possibly damaging Het
Gm4922 C T 10: 18,659,469 (GRCm39) A418T possibly damaging Het
Kmo A G 1: 175,486,125 (GRCm39) H416R probably benign Het
Lao1 A G 4: 118,822,602 (GRCm39) N174S probably benign Het
Lrwd1 A T 5: 136,159,844 (GRCm39) H406Q probably benign Het
Magoh A G 4: 107,744,459 (GRCm39) I143V probably benign Het
Mpz A G 1: 170,986,008 (GRCm39) H49R possibly damaging Het
Nav1 T C 1: 135,400,148 (GRCm39) N474S probably benign Het
Ndufb10 T G 17: 24,941,757 (GRCm39) E68D probably benign Het
Obscn T C 11: 58,926,913 (GRCm39) D5534G possibly damaging Het
Or13c7d T C 4: 43,770,991 (GRCm39) T7A probably benign Het
Or14j5 T A 17: 38,161,575 (GRCm39) F31I probably damaging Het
Or1j16 A T 2: 36,530,132 (GRCm39) Y27F probably benign Het
Or4d10 A T 19: 12,051,605 (GRCm39) Y130* probably null Het
Or52l1 A T 7: 104,830,040 (GRCm39) F160Y probably benign Het
Or8k30 C A 2: 86,339,028 (GRCm39) T75K probably damaging Het
Padi1 A T 4: 140,559,640 (GRCm39) V79E possibly damaging Het
Pdha2 A G 3: 140,917,260 (GRCm39) Y83H probably damaging Het
Phpt1 A G 2: 25,464,727 (GRCm39) I42T probably damaging Het
Pot1b A C 17: 55,981,085 (GRCm39) S310A probably benign Het
Ptpn13 G A 5: 103,637,639 (GRCm39) V176I probably damaging Het
Ptprf A G 4: 118,114,689 (GRCm39) S189P probably damaging Het
Rere A T 4: 150,619,341 (GRCm39) Q381L unknown Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Scn8a G A 15: 100,938,043 (GRCm39) C1804Y probably benign Het
Sema3c G A 5: 17,883,312 (GRCm39) D307N probably benign Het
Siah2 T C 3: 58,583,737 (GRCm39) E183G probably benign Het
Smarca5 G A 8: 81,437,260 (GRCm39) L699F probably damaging Het
Smo T A 6: 29,754,718 (GRCm39) S263T probably benign Het
Sox2 A G 3: 34,704,848 (GRCm39) E95G probably damaging Het
T T C 17: 8,658,771 (GRCm39) S171P probably benign Het
Tmc7 G T 7: 118,141,247 (GRCm39) A628D probably benign Het
Tmem45a2 A G 16: 56,869,789 (GRCm39) S52P probably damaging Het
Tubb3 C T 8: 124,148,186 (GRCm39) A373V probably damaging Het
Upp2 A G 2: 58,653,716 (GRCm39) Y69C probably damaging Het
Utp4 A G 8: 107,627,476 (GRCm39) probably null Het
Vmn1r59 T A 7: 5,457,410 (GRCm39) M117L probably benign Het
Xkr8 T C 4: 132,459,722 (GRCm39) S19G probably benign Het
Zbed6 G A 1: 133,586,941 (GRCm39) T132I probably damaging Het
Zbtb24 T C 10: 41,340,523 (GRCm39) Y518H probably damaging Het
Zfp324 T C 7: 12,705,551 (GRCm39) I580T probably benign Het
Zfp995 G A 17: 22,098,960 (GRCm39) H425Y probably damaging Het
Other mutations in Chga
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Chga APN 12 102,529,058 (GRCm39) missense probably damaging 0.98
IGL02674:Chga APN 12 102,529,160 (GRCm39) missense probably damaging 1.00
FR4589:Chga UTSW 12 102,527,661 (GRCm39) small insertion probably benign
R0018:Chga UTSW 12 102,524,764 (GRCm39) missense probably damaging 0.97
R0463:Chga UTSW 12 102,529,210 (GRCm39) nonsense probably null
R1603:Chga UTSW 12 102,530,866 (GRCm39) splice site probably null
R1727:Chga UTSW 12 102,527,696 (GRCm39) missense possibly damaging 0.85
R1778:Chga UTSW 12 102,527,959 (GRCm39) missense probably benign
R1800:Chga UTSW 12 102,522,164 (GRCm39) missense probably damaging 0.99
R2071:Chga UTSW 12 102,529,122 (GRCm39) missense probably damaging 1.00
R3415:Chga UTSW 12 102,529,043 (GRCm39) missense probably benign 0.00
R3696:Chga UTSW 12 102,527,724 (GRCm39) missense probably damaging 0.98
R5022:Chga UTSW 12 102,529,096 (GRCm39) missense probably damaging 1.00
R5507:Chga UTSW 12 102,528,868 (GRCm39) missense probably benign 0.39
R5959:Chga UTSW 12 102,528,114 (GRCm39) missense probably benign
R7338:Chga UTSW 12 102,529,100 (GRCm39) missense probably damaging 1.00
R7410:Chga UTSW 12 102,528,866 (GRCm39) missense probably benign 0.00
R7694:Chga UTSW 12 102,527,606 (GRCm39) missense probably benign 0.05
R8084:Chga UTSW 12 102,528,328 (GRCm39) missense probably benign 0.29
R8211:Chga UTSW 12 102,527,678 (GRCm39) missense possibly damaging 0.71
R8505:Chga UTSW 12 102,528,004 (GRCm39) missense probably damaging 0.98
R8878:Chga UTSW 12 102,527,720 (GRCm39) missense possibly damaging 0.84
R9043:Chga UTSW 12 102,529,054 (GRCm39) missense possibly damaging 0.78
R9139:Chga UTSW 12 102,528,144 (GRCm39) missense probably benign 0.45
R9346:Chga UTSW 12 102,525,548 (GRCm39) missense probably damaging 0.99
R9764:Chga UTSW 12 102,525,613 (GRCm39) missense possibly damaging 0.71
RF001:Chga UTSW 12 102,527,682 (GRCm39) small insertion probably benign
RF002:Chga UTSW 12 102,527,680 (GRCm39) small insertion probably benign
RF006:Chga UTSW 12 102,527,671 (GRCm39) small insertion probably benign
RF009:Chga UTSW 12 102,527,679 (GRCm39) small insertion probably benign
RF010:Chga UTSW 12 102,527,662 (GRCm39) small insertion probably benign
RF014:Chga UTSW 12 102,527,664 (GRCm39) small insertion probably benign
RF014:Chga UTSW 12 102,527,652 (GRCm39) small insertion probably benign
RF015:Chga UTSW 12 102,527,679 (GRCm39) small insertion probably benign
RF022:Chga UTSW 12 102,527,679 (GRCm39) small insertion probably benign
RF033:Chga UTSW 12 102,527,655 (GRCm39) small insertion probably benign
RF035:Chga UTSW 12 102,527,686 (GRCm39) small insertion probably benign
RF044:Chga UTSW 12 102,527,655 (GRCm39) small insertion probably benign
RF048:Chga UTSW 12 102,527,680 (GRCm39) small insertion probably benign
RF048:Chga UTSW 12 102,527,662 (GRCm39) small insertion probably benign
RF049:Chga UTSW 12 102,527,652 (GRCm39) small insertion probably benign
RF052:Chga UTSW 12 102,527,675 (GRCm39) small insertion probably benign
RF054:Chga UTSW 12 102,527,682 (GRCm39) small insertion probably benign
RF056:Chga UTSW 12 102,527,683 (GRCm39) small insertion probably benign
RF058:Chga UTSW 12 102,527,675 (GRCm39) small insertion probably benign
RF060:Chga UTSW 12 102,527,683 (GRCm39) small insertion probably benign
RF061:Chga UTSW 12 102,527,686 (GRCm39) small insertion probably benign
RF061:Chga UTSW 12 102,527,672 (GRCm39) small insertion probably benign
Predicted Primers
Posted On 2014-01-15