Mutagenetix > Incidental Mutation

Incidental Mutation 'R4560:Scg2'

343020

Institutional Source

Beutler Lab

Gene Symbol

Scg2

Ensembl Gene

ENSMUSG00000050711

Gene Name

secretogranin II

Synonyms

SgII, Chgc

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4560 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79434669-79440120 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79435181 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 568 (H568Q)

Ref Sequence

ENSEMBL: ENSMUSP00000139740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049972] [ENSMUST00000185234]

AlphaFold

Q03517

Predicted Effect

probably damaging
Transcript: ENSMUST00000049972
AA Change: H608Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000062556
Gene: ENSMUSG00000050711
AA Change: H608Q

Domain	Start	End	E-Value	Type
Pfam:Granin	27	614	7.2e-235	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000185234
AA Change: H568Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139740
Gene: ENSMUSG00000050711
AA Change: H568Q

Domain	Start	End	E-Value	Type
Pfam:Granin	27	319	1.4e-123	PFAM
Pfam:Granin	316	574	7.1e-91	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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. Studies in rodents suggest that the full-length protein, secretogranin II, is involved in the packaging or sorting of peptide hormones and neuropeptides into secretory vesicles. The full-length protein is cleaved to produce the active peptide secretoneurin, which exerts chemotaxic effects on specific cell types, and EM66, whose function is unknown. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,741,757	S750P	probably damaging	Het
Adcy4	A	C	14: 55,778,950		probably null	Het
Atp8b1	A	T	18: 64,556,879	L594*	probably null	Het
Atp8b1	C	T	18: 64,568,247	V347I	probably benign	Het
Axin1	A	G	17: 26,173,771	D342G	probably damaging	Het
Bace2	G	A	16: 97,421,980	R368Q	probably damaging	Het
Capn10	T	C	1: 92,939,362	Y105H	probably damaging	Het
Ccdc89	T	G	7: 90,427,128	L182R	probably damaging	Het
Cdk5rap2	A	G	4: 70,315,331	F537S	probably benign	Het
Cidec	A	T	6: 113,428,438	M118K	probably damaging	Het
Cog8	A	T	8: 107,052,211		probably null	Het
Ctif	A	T	18: 75,519,881	L435Q	probably damaging	Het
Dhx9	A	G	1: 153,467,157	V533A	probably damaging	Het
Drc1	T	A	5: 30,363,097	M594K	probably benign	Het
Dthd1	C	T	5: 62,827,092	T380I	probably damaging	Het
Fat2	A	G	11: 55,265,951	S3475P	possibly damaging	Het
G6pd2	G	A	5: 61,810,343	R487H	possibly damaging	Het
Hcrtr2	A	G	9: 76,254,688	V140A	probably damaging	Het
Ikbke	C	T	1: 131,272,120	C243Y	probably damaging	Het
Il21	C	A	3: 37,225,484	E128*	probably null	Het
Kdm7a	C	T	6: 39,152,823	R473Q	probably damaging	Het
Me3	G	T	7: 89,849,730	R506L	probably benign	Het
Mtf2	T	A	5: 108,086,989		probably null	Het
Nbas	A	G	12: 13,583,527	N2311S	probably benign	Het
Nomo1	G	T	7: 46,041,480	V97L	probably damaging	Het
Pcdhb11	G	A	18: 37,423,734	V706I	possibly damaging	Het
Pkhd1	G	A	1: 20,211,858	R2920C	probably damaging	Het
Prox2	T	C	12: 85,095,043	T129A	probably benign	Het
Rgs18	T	G	1: 144,755,982	I131L	probably benign	Het
Rnf19b	G	T	4: 129,071,823	C57F	probably damaging	Het
Rpl11	T	C	4: 136,051,211	Y122C	probably damaging	Het
Sarnp	A	G	10: 128,846,543	K5R	probably damaging	Het
Sept10	T	C	10: 59,183,595	Y150C	probably damaging	Het
Slco1b2	A	G	6: 141,671,167	T409A	probably benign	Het
Smco2	T	A	6: 146,871,176	V292D	possibly damaging	Het
Smok3c	A	G	5: 138,064,484	M78V	probably benign	Het
Spag16	C	A	1: 69,844,296	F61L	probably benign	Het
Spata22	G	A	11: 73,345,759	R297H	probably damaging	Het
Syt3	C	A	7: 44,395,944	P536Q	probably benign	Het
Tmem117	A	T	15: 95,094,796	M446L	probably benign	Het
Trim9	A	C	12: 70,347,118	Y17*	probably null	Het
Tsga10	A	G	1: 37,807,082	M321T	probably benign	Het
Ttc13	A	G	8: 124,675,277	L657P	probably damaging	Het
Ubxn1	C	T	19: 8,874,224	T207I	probably benign	Het
Vmn2r117	A	T	17: 23,459,877	V791D	probably damaging	Het
Vps54	C	G	11: 21,312,260	C785W	possibly damaging	Het
Zfp616	A	G	11: 74,083,034	D43G	probably benign	Het
Zfp952	A	G	17: 33,003,954	H469R	probably benign	Het

Other mutations in Scg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Scg2	APN	1	79436821	missense	probably benign	0.16
IGL02083:Scg2	APN	1	79436224	missense	probably benign	0.00
IGL02316:Scg2	APN	1	79435681	missense	probably damaging	1.00
IGL02338:Scg2	APN	1	79436493	missense	possibly damaging	0.93
R0281:Scg2	UTSW	1	79435512	missense	possibly damaging	0.95
R0384:Scg2	UTSW	1	79435549	missense	probably benign	0.42
R0501:Scg2	UTSW	1	79435603	missense	probably damaging	1.00
R0909:Scg2	UTSW	1	79435782	missense	possibly damaging	0.74
R1773:Scg2	UTSW	1	79435635	missense	probably benign	0.04
R2254:Scg2	UTSW	1	79436500	missense	probably damaging	1.00
R4074:Scg2	UTSW	1	79436857	missense	probably damaging	0.97
R4076:Scg2	UTSW	1	79436857	missense	probably damaging	0.97
R4097:Scg2	UTSW	1	79435821	missense	probably damaging	0.99
R4621:Scg2	UTSW	1	79436664	missense	probably benign	0.08
R4876:Scg2	UTSW	1	79435919	missense	probably damaging	1.00
R4944:Scg2	UTSW	1	79436476	nonsense	probably null
R5829:Scg2	UTSW	1	79436920	missense	probably damaging	1.00
R6158:Scg2	UTSW	1	79435400	missense	probably damaging	1.00
R6248:Scg2	UTSW	1	79436306	missense	probably benign	0.29
R6365:Scg2	UTSW	1	79435300	missense	probably benign
R6459:Scg2	UTSW	1	79436290	missense	probably damaging	1.00
R6676:Scg2	UTSW	1	79435782	missense	possibly damaging	0.74
R6693:Scg2	UTSW	1	79436020	missense	probably benign	0.01
R7259:Scg2	UTSW	1	79436985	missense	probably benign
R7393:Scg2	UTSW	1	79435231	missense	probably damaging	1.00
R7578:Scg2	UTSW	1	79436895	missense	probably damaging	0.99
R7608:Scg2	UTSW	1	79436181	missense	probably benign	0.00
R8166:Scg2	UTSW	1	79435583	missense	possibly damaging	0.56
R8247:Scg2	UTSW	1	79436519	missense	possibly damaging	0.92
R8296:Scg2	UTSW	1	79435505	missense	probably benign	0.13
R8308:Scg2	UTSW	1	79436859	missense	probably benign	0.18
R8789:Scg2	UTSW	1	79435783	missense	probably benign	0.05
R9252:Scg2	UTSW	1	79436352	missense	probably damaging	0.98
R9286:Scg2	UTSW	1	79435936	missense	probably damaging	1.00
R9489:Scg2	UTSW	1	79435219	missense	probably damaging	1.00
R9605:Scg2	UTSW	1	79435219	missense	probably damaging	1.00
Z1176:Scg2	UTSW	1	79436789	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CCCCAAAATGACCTGGAGTC -3'
(R):5'- CAACCAGCTGAAGAGAGTGC -3'

Sequencing Primer
(F):5'- GACCTGGAGTCATCTGCCTATAC -3'
(R):5'- CCATCAAGGAACATCTGGGGC -3'

Posted On

2015-09-24