Incidental Mutation 'R2137:Scg3'
ID 235891
Institutional Source Beutler Lab
Gene Symbol Scg3
Ensembl Gene ENSMUSG00000032181
Gene Name secretogranin III
Synonyms SgIII, 1B1075, Chgd
MMRRC Submission 040140-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2137 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 75550471-75591338 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75584092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 136 (D136E)
Ref Sequence ENSEMBL: ENSMUSP00000149561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034699] [ENSMUST00000213324]
AlphaFold P47867
Predicted Effect probably damaging
Transcript: ENSMUST00000034699
AA Change: D136E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034699
Gene: ENSMUSG00000032181
AA Change: D136E

DomainStartEndE-ValueType
Pfam:SGIII 20 471 1.3e-215 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213324
AA Change: D136E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000215603
Meta Mutation Damage Score 0.1041 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (60/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Granins may serve as precursors for biologically active peptides. Some granins have been shown to function as helper proteins in sorting and proteolytic processing of prohormones; however, the function of this protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous knockout causes dysregulation of the secretion of active peptide hormones from endocrine cells, exacerbating the adverse effects of inadequate diet (obesity, diabetes) and stress conditions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd24 C T 10: 81,482,143 (GRCm39) T88I probably damaging Het
Atm A T 9: 53,364,675 (GRCm39) V49D probably damaging Het
Bub1b G T 2: 118,467,199 (GRCm39) E841* probably null Het
Cdh20 A T 1: 110,027,836 (GRCm39) N527I probably damaging Het
Cdh22 G A 2: 164,958,314 (GRCm39) probably benign Het
Cog1 T C 11: 113,550,127 (GRCm39) L262P probably damaging Het
Col22a1 T C 15: 71,878,797 (GRCm39) H120R possibly damaging Het
Col4a2 T C 8: 11,483,749 (GRCm39) S890P probably benign Het
Cubn T C 2: 13,340,978 (GRCm39) I2248V probably benign Het
Evpl T C 11: 116,112,665 (GRCm39) E1675G probably damaging Het
Faiml G A 9: 99,114,545 (GRCm39) P115S probably benign Het
Fgg A T 3: 82,915,745 (GRCm39) D62V possibly damaging Het
Gak C T 5: 108,754,743 (GRCm39) probably null Het
Galntl6 C T 8: 58,988,939 (GRCm39) probably null Het
Glyr1 T C 16: 4,836,346 (GRCm39) Y501C probably benign Het
Gm9847 G T 12: 14,545,082 (GRCm39) noncoding transcript Het
Gria4 T G 9: 4,427,026 (GRCm39) probably benign Het
Il36b A G 2: 24,044,672 (GRCm39) N24S probably benign Het
Il6st C A 13: 112,639,392 (GRCm39) H606N possibly damaging Het
Itprid1 A G 6: 55,866,174 (GRCm39) Q189R probably damaging Het
Kctd10 A G 5: 114,505,389 (GRCm39) F202L probably damaging Het
Kif17 T A 4: 137,989,978 (GRCm39) D55E probably damaging Het
Klf1 C T 8: 85,629,775 (GRCm39) A200V possibly damaging Het
Klhl32 A T 4: 24,629,275 (GRCm39) Y497* probably null Het
Kng2 G T 16: 22,816,076 (GRCm39) probably benign Het
Lats1 T C 10: 7,577,611 (GRCm39) V245A possibly damaging Het
Mbd3l2 A T 9: 18,356,254 (GRCm39) D193V probably damaging Het
Ms4a18 A T 19: 10,974,695 (GRCm39) V332D possibly damaging Het
Mss51 T C 14: 20,537,591 (GRCm39) I47V probably benign Het
Myoz2 G A 3: 122,827,861 (GRCm39) T19M probably benign Het
Nampt T A 12: 32,880,309 (GRCm39) N67K probably benign Het
Ncor2 A T 5: 125,107,776 (GRCm39) I1607K probably damaging Het
Nudt4 T C 10: 95,399,600 (GRCm39) Q7R probably damaging Het
Or5b119 A G 19: 13,457,173 (GRCm39) Y130H probably damaging Het
Or5b121 T A 19: 13,507,802 (GRCm39) I255N probably damaging Het
Or8b12i T A 9: 20,082,463 (GRCm39) I135F probably damaging Het
Pgm2 A T 5: 64,273,709 (GRCm39) M565L probably benign Het
Phactr1 T G 13: 43,288,651 (GRCm39) F639V possibly damaging Het
Plod3 C A 5: 137,017,571 (GRCm39) R165S probably damaging Het
Polr2b T A 5: 77,468,193 (GRCm39) N164K probably benign Het
Rcbtb2 G A 14: 73,399,491 (GRCm39) G52S probably damaging Het
Rfc1 A G 5: 65,468,382 (GRCm39) probably null Het
Rheb A G 5: 25,012,601 (GRCm39) probably null Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Ripor2 G A 13: 24,905,817 (GRCm39) probably null Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Slc10a4 C T 5: 73,164,923 (GRCm39) L172F probably damaging Het
Slc35c2 A G 2: 165,123,299 (GRCm39) Y113H probably damaging Het
Slc47a1 T A 11: 61,235,318 (GRCm39) D505V probably benign Het
Snap29 C A 16: 17,246,113 (GRCm39) D244E possibly damaging Het
Taar1 T C 10: 23,797,168 (GRCm39) F289L probably benign Het
Thbs2 T A 17: 14,893,568 (GRCm39) N871Y probably damaging Het
Tmem108 T A 9: 103,377,162 (GRCm39) T96S possibly damaging Het
Tnk2 G T 16: 32,489,620 (GRCm39) probably null Het
Trak1 T A 9: 121,302,028 (GRCm39) M928K possibly damaging Het
Tuba3b A G 6: 145,564,559 (GRCm39) I110V probably benign Het
Tyk2 A G 9: 21,022,281 (GRCm39) probably benign Het
Ugt1a9 T A 1: 87,998,759 (GRCm39) C70S probably benign Het
Vmn2r10 A T 5: 109,151,410 (GRCm39) I68K possibly damaging Het
Wfs1 T C 5: 37,124,845 (GRCm39) E682G probably damaging Het
Zfp213 T C 17: 23,778,481 (GRCm39) probably null Het
Zfp809 T C 9: 22,146,434 (GRCm39) V41A probably benign Het
Zfp831 A G 2: 174,547,539 (GRCm39) K1574R possibly damaging Het
Other mutations in Scg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Scg3 APN 9 75,570,519 (GRCm39) missense probably damaging 1.00
IGL02221:Scg3 APN 9 75,590,939 (GRCm39) missense probably damaging 0.99
IGL03391:Scg3 APN 9 75,568,533 (GRCm39) critical splice donor site probably null
R0137:Scg3 UTSW 9 75,570,462 (GRCm39) unclassified probably benign
R0366:Scg3 UTSW 9 75,582,620 (GRCm39) splice site probably benign
R0650:Scg3 UTSW 9 75,576,617 (GRCm39) missense probably damaging 1.00
R0654:Scg3 UTSW 9 75,573,017 (GRCm39) missense probably damaging 1.00
R0666:Scg3 UTSW 9 75,551,222 (GRCm39) nonsense probably null
R0827:Scg3 UTSW 9 75,590,979 (GRCm39) missense possibly damaging 0.81
R1317:Scg3 UTSW 9 75,576,622 (GRCm39) missense probably damaging 1.00
R1553:Scg3 UTSW 9 75,576,586 (GRCm39) missense probably null 1.00
R1751:Scg3 UTSW 9 75,576,622 (GRCm39) missense probably damaging 1.00
R1761:Scg3 UTSW 9 75,584,040 (GRCm39) missense probably damaging 1.00
R1850:Scg3 UTSW 9 75,589,449 (GRCm39) missense possibly damaging 0.56
R2059:Scg3 UTSW 9 75,572,998 (GRCm39) missense probably damaging 1.00
R2384:Scg3 UTSW 9 75,573,008 (GRCm39) missense probably damaging 1.00
R3870:Scg3 UTSW 9 75,582,781 (GRCm39) splice site probably benign
R4260:Scg3 UTSW 9 75,558,979 (GRCm39) missense probably damaging 1.00
R5371:Scg3 UTSW 9 75,568,583 (GRCm39) missense probably damaging 1.00
R5417:Scg3 UTSW 9 75,576,538 (GRCm39) missense probably benign 0.02
R6013:Scg3 UTSW 9 75,584,090 (GRCm39) missense probably damaging 1.00
R7052:Scg3 UTSW 9 75,568,664 (GRCm39) nonsense probably null
R7202:Scg3 UTSW 9 75,590,992 (GRCm39) missense probably benign 0.06
R7211:Scg3 UTSW 9 75,589,366 (GRCm39) missense probably benign 0.00
R7471:Scg3 UTSW 9 75,589,374 (GRCm39) missense probably damaging 1.00
R7490:Scg3 UTSW 9 75,576,559 (GRCm39) missense possibly damaging 0.94
R7651:Scg3 UTSW 9 75,589,332 (GRCm39) missense probably benign 0.03
R7904:Scg3 UTSW 9 75,551,149 (GRCm39) missense probably damaging 1.00
R9045:Scg3 UTSW 9 75,570,522 (GRCm39) missense probably damaging 1.00
R9228:Scg3 UTSW 9 75,558,955 (GRCm39) missense probably damaging 1.00
R9785:Scg3 UTSW 9 75,589,322 (GRCm39) missense probably damaging 1.00
Z1176:Scg3 UTSW 9 75,576,598 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- CTTGACTTAGAACACTGCAGACTG -3'
(R):5'- TGTGCAGATCTCTCGCCTTG -3'

Sequencing Primer
(F):5'- GAACACTGCAGACTGTATTTTTCTG -3'
(R):5'- TACATAGAGGGTTCTCCAGTAGCC -3'
Posted On 2014-10-01