Incidental Mutation 'R5507:Chga'
ID 431001
Institutional Source Beutler Lab
Gene Symbol Chga
Ensembl Gene ENSMUSG00000021194
Gene Name chromogranin A
Synonyms ChrA
MMRRC Submission 043068-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R5507 (G1)
Quality Score 174
Status Validated
Chromosome 12
Chromosomal Location 102521228-102531287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102528868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 282 (S282P)
Ref Sequence ENSEMBL: ENSMUSP00000021610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021610]
AlphaFold P26339
Predicted Effect probably benign
Transcript: ENSMUST00000021610
AA Change: S282P

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021610
Gene: ENSMUSG00000021194
AA Change: S282P

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.2%
Validation Efficiency 100% (66/66)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A G 4: 39,451,084 (GRCm39) T97A probably damaging Het
1700017N19Rik T C 10: 100,445,095 (GRCm39) S27P probably benign Het
Acoxl C A 2: 127,726,394 (GRCm39) A256E probably damaging Het
Akap9 A G 5: 4,018,683 (GRCm39) E1088G probably benign Het
Alox12 T C 11: 70,145,238 (GRCm39) T112A possibly damaging Het
Ampd2 A G 3: 107,984,929 (GRCm39) V379A probably damaging Het
Ap4e1 C A 2: 126,850,818 (GRCm39) H49N probably damaging Het
Arhgap11a T C 2: 113,672,023 (GRCm39) T260A probably benign Het
Atg2a T C 19: 6,295,100 (GRCm39) F171S possibly damaging Het
Bpifb9b A T 2: 154,158,947 (GRCm39) Y488F possibly damaging Het
C2cd2 T C 16: 97,682,820 (GRCm39) T139A probably benign Het
Cct8l1 A T 5: 25,721,377 (GRCm39) T31S probably benign Het
Cdhr1 A T 14: 36,804,802 (GRCm39) N469K probably damaging Het
Chrnb4 T G 9: 54,942,296 (GRCm39) H326P probably damaging Het
Cntnap1 A G 11: 101,074,303 (GRCm39) T748A probably benign Het
Cpsf3 T A 12: 21,347,929 (GRCm39) L250H probably damaging Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dppa5a T A 9: 78,275,353 (GRCm39) D10V possibly damaging Het
Dsc2 G A 18: 20,179,336 (GRCm39) T244I probably damaging Het
Elavl4 T C 4: 110,070,403 (GRCm39) T144A probably benign Het
Ephb1 C T 9: 101,813,315 (GRCm39) V776M probably damaging Het
Fcrl1 C T 3: 87,298,549 (GRCm39) S348F probably benign Het
Fga T A 3: 82,940,643 (GRCm39) W766R probably damaging Het
Galnt14 A G 17: 73,802,661 (GRCm39) V477A probably damaging Het
Gcdh A G 8: 85,619,486 (GRCm39) L103P probably damaging Het
Gm27013 G A 6: 130,652,942 (GRCm39) T840I probably damaging Het
Gpr179 A T 11: 97,229,156 (GRCm39) W1000R probably damaging Het
Hectd4 C T 5: 121,419,164 (GRCm39) A581V unknown Het
Ints12 T A 3: 132,814,921 (GRCm39) V376E probably damaging Het
Krt77 T C 15: 101,769,665 (GRCm39) I402V probably benign Het
Marchf1 T C 8: 66,871,542 (GRCm39) V102A probably damaging Het
Meis1 A T 11: 18,966,168 (GRCm39) N68K probably benign Het
Mthfd1l A G 10: 4,056,432 (GRCm39) E916G probably benign Het
Muc5ac T C 7: 141,361,569 (GRCm39) F1627L possibly damaging Het
Myef2 A T 2: 124,958,623 (GRCm39) M102K probably benign Het
Naip6 A C 13: 100,435,423 (GRCm39) H1033Q probably benign Het
Nid1 T A 13: 13,663,622 (GRCm39) C760* probably null Het
Nt5dc1 A T 10: 34,273,226 (GRCm39) C191S probably benign Het
Nup214 A G 2: 31,878,188 (GRCm39) E285G possibly damaging Het
Nvl A G 1: 180,962,601 (GRCm39) L123P probably damaging Het
Or5t9 T A 2: 86,659,661 (GRCm39) H188Q probably damaging Het
Otog A G 7: 45,911,123 (GRCm39) E658G probably damaging Het
Pam16 G T 16: 4,435,880 (GRCm39) probably benign Het
Psg17 T C 7: 18,553,851 (GRCm39) D133G probably benign Het
Rabgap1l A G 1: 160,178,898 (GRCm39) S21P possibly damaging Het
Rgs22 T A 15: 36,099,798 (GRCm39) M306L probably damaging Het
Ruvbl1 A G 6: 88,444,582 (GRCm39) K59R probably benign Het
Samd9l T C 6: 3,373,898 (GRCm39) E1121G possibly damaging Het
Serpinb13 A G 1: 106,926,332 (GRCm39) N169S probably benign Het
Setbp1 T A 18: 79,129,927 (GRCm39) T102S probably damaging Het
Syn3 A T 10: 85,916,090 (GRCm39) S299T probably benign Het
Taar7a A G 10: 23,868,529 (GRCm39) L284P probably damaging Het
Tlr6 C A 5: 65,110,749 (GRCm39) Q719H probably damaging Het
Tmem131 T A 1: 36,928,361 (GRCm39) D76V probably damaging Het
Tradd T G 8: 105,986,257 (GRCm39) D145A possibly damaging Het
Usp20 A T 2: 30,900,238 (GRCm39) M251L probably benign Het
Vmn2r96 T A 17: 18,818,091 (GRCm39) L556Q probably damaging Het
Xrcc2 A G 5: 25,897,317 (GRCm39) S211P probably benign 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
R1164:Chga UTSW 12 102,529,304 (GRCm39) missense probably damaging 1.00
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
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 PCR Primer
(F):5'- AGCTCCTTTGAGGTTTGCAG -3'
(R):5'- CCAGGATCTCTGAAGCCATAGG -3'

Sequencing Primer
(F):5'- GCAGGGTCTTGCTTCATGCTC -3'
(R):5'- AGCTTCATGGAGCGGTCAG -3'
Posted On 2016-10-05