Incidental Mutation 'R3928:Scg5'
ID 308355
Institutional Source Beutler Lab
Gene Symbol Scg5
Ensembl Gene ENSMUSG00000023236
Gene Name secretogranin V
Synonyms 7B2, Sgne1, Sgne-1
MMRRC Submission 040823-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R3928 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 113606707-113659466 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113622230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 124 (K124R)
Ref Sequence ENSEMBL: ENSMUSP00000024005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024005]
AlphaFold P12961
Predicted Effect probably damaging
Transcript: ENSMUST00000024005
AA Change: K124R

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024005
Gene: ENSMUSG00000023236
AA Change: K124R

DomainStartEndE-ValueType
Pfam:Secretogranin_V 23 160 4e-13 PFAM
Meta Mutation Damage Score 0.0844 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted chaperone protein that prevents the aggregation of other secreted proteins, including proteins that are associated with neurodegenerative and metabolic disease. The encoded protein may be best known for its role in the trafficking and activation of prohormone convertase PC2 (encoded by Gene ID: 5126). Phosphorylation of the encoded protein has been shown to have an inhibitory effect on its chaperone function. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene often die before weaning and display a variety of metabolic defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr A T 11: 76,359,561 (GRCm39) H181Q probably benign Het
Atrx T C X: 104,923,523 (GRCm39) I157V possibly damaging Het
Birc6 A G 17: 74,918,170 (GRCm39) D1856G possibly damaging Het
Birc6 A G 17: 74,945,404 (GRCm39) T2811A probably damaging Het
Brsk2 T C 7: 141,552,155 (GRCm39) F108S probably damaging Het
Clasp2 C A 9: 113,735,173 (GRCm39) H1004N probably benign Het
Cntd1 G A 11: 101,178,345 (GRCm39) V315I probably benign Het
Col13a1 A G 10: 61,703,304 (GRCm39) probably benign Het
Ctps1 T A 4: 120,399,093 (GRCm39) H553L probably benign Het
Dpysl2 A G 14: 67,061,880 (GRCm39) I242T possibly damaging Het
Exoc3l C T 8: 106,017,549 (GRCm39) probably benign Het
Fam229a A G 4: 129,385,204 (GRCm39) probably benign Het
Fshr C T 17: 89,292,962 (GRCm39) R572H probably damaging Het
Gm5501 A G 18: 9,917,267 (GRCm39) noncoding transcript Het
Gmpr A G 13: 45,683,223 (GRCm39) I165V probably benign Het
Gnat3 G A 5: 18,208,892 (GRCm39) probably benign Het
H1f8 A G 6: 115,925,757 (GRCm39) K185E probably benign Het
H2-Q4 T G 17: 35,598,666 (GRCm39) L16R unknown Het
Hs2st1 T C 3: 144,140,389 (GRCm39) K311E possibly damaging Het
Kcnj15 A G 16: 95,097,368 (GRCm39) E330G possibly damaging Het
Kif3a A G 11: 53,461,441 (GRCm39) K29E probably benign Het
Krtap4-1 A G 11: 99,518,983 (GRCm39) V9A unknown Het
Lmntd2 C T 7: 140,791,117 (GRCm39) G432S probably damaging Het
Me3 T C 7: 89,482,898 (GRCm39) probably benign Het
Myo1d G T 11: 80,375,087 (GRCm39) R996S probably benign Het
Myo9a T A 9: 59,802,566 (GRCm39) W2018R probably damaging Het
Nphp3 G T 9: 103,888,929 (GRCm39) V265F probably damaging Het
Or10ak9 T C 4: 118,726,179 (GRCm39) L66P probably damaging Het
Or5p67 A G 7: 107,922,232 (GRCm39) I217T probably benign Het
Or8c16 T C 9: 38,130,131 (GRCm39) M1T probably null Het
Pgp A G 17: 24,690,315 (GRCm39) E247G probably damaging Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plch1 G A 3: 63,675,044 (GRCm39) A202V probably damaging Het
Rbm11 G A 16: 75,389,932 (GRCm39) probably null Het
Serpina3j A T 12: 104,285,916 (GRCm39) H357L probably damaging Het
St6gal2 A G 17: 55,803,324 (GRCm39) D353G possibly damaging Het
Tdpoz3 T C 3: 93,734,216 (GRCm39) I297T possibly damaging Het
Tdrd5 G A 1: 156,128,348 (GRCm39) T136I probably benign Het
Tfcp2l1 T A 1: 118,597,206 (GRCm39) I429K possibly damaging Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Top1 T C 2: 160,529,669 (GRCm39) probably benign Het
Trim61 A G 8: 65,465,969 (GRCm39) F431L probably benign Het
Trmo C T 4: 46,382,647 (GRCm39) G150S probably damaging Het
Vmn1r183 T C 7: 23,754,997 (GRCm39) S267P probably damaging Het
Xirp2 T A 2: 67,342,013 (GRCm39) F1418Y possibly damaging Het
Zfp114 T C 7: 23,880,467 (GRCm39) V271A possibly damaging Het
Zfp710 A G 7: 79,731,134 (GRCm39) R104G probably damaging Het
Other mutations in Scg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Scg5 APN 2 113,657,915 (GRCm39) unclassified probably benign
IGL02124:Scg5 APN 2 113,622,382 (GRCm39) splice site probably benign
R5265:Scg5 UTSW 2 113,607,210 (GRCm39) nonsense probably null
R6378:Scg5 UTSW 2 113,657,737 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- AGCCAGTGACTCAAGATTTCC -3'
(R):5'- AAAGATGTTTCTTCCCACGCTG -3'

Sequencing Primer
(F):5'- ATACTGGCTTGGTCATATCCAAC -3'
(R):5'- TTCTTCCCACGCTGCAGGG -3'
Posted On 2015-04-17