Mutagenetix > Incidental Mutation

Incidental Mutation 'R9489:Scg2'

716788

Institutional Source

Beutler Lab

Gene Symbol

Scg2

Ensembl Gene

ENSMUSG00000050711

Gene Name

secretogranin II

Synonyms

SgII, Chgc

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79412386-79417837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79412936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 556 (Y556H)

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: Y596H

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

SMART Domains

Protein: ENSMUSP00000062556
Gene: ENSMUSG00000050711
AA Change: Y596H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000185234
AA Change: Y556H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139740
Gene: ENSMUSG00000050711
AA Change: Y556H

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 61,002,683 (GRCm39)	S24C	probably damaging	Het
6430548M08Rik	G	A	8: 120,872,380 (GRCm39)	V103I	possibly damaging	Het
Acaca	C	T	11: 84,183,842 (GRCm39)	T1240I	probably benign	Het
Adam19	T	C	11: 46,028,449 (GRCm39)	V694A	probably benign	Het
Adipor1	A	G	1: 134,352,553 (GRCm39)	D108G	probably damaging	Het
Arhgef4	A	G	1: 34,761,745 (GRCm39)	T334A	unknown	Het
Bcl11a	T	C	11: 24,114,582 (GRCm39)	F642L	probably benign	Het
Camk2d	T	C	3: 126,561,209 (GRCm39)	Y108H	probably damaging	Het
Castor2	G	T	5: 134,164,536 (GRCm39)	V166L	probably benign	Het
Catsper1	A	G	19: 5,387,785 (GRCm39)	T355A	probably benign	Het
Ccdc69	T	A	11: 54,945,856 (GRCm39)	N50I	possibly damaging	Het
Chd8	A	T	14: 52,457,055 (GRCm39)	L971Q	probably damaging	Het
Chrna10	C	A	7: 101,762,801 (GRCm39)	A130S	probably benign	Het
Ciao1	G	A	2: 127,087,684 (GRCm39)	T217I	probably damaging	Het
Cldn1	A	T	16: 26,181,924 (GRCm39)	I95N	probably damaging	Het
Cluh	C	T	11: 74,558,772 (GRCm39)	R1253C	possibly damaging	Het
Cngb3	A	T	4: 19,505,187 (GRCm39)	Q640L	probably benign	Het
Cyp2c40	A	T	19: 39,766,443 (GRCm39)	V384D	probably damaging	Het
Cyp2d26	T	A	15: 82,674,672 (GRCm39)	M437L	probably benign	Het
Cyp2j7	T	C	4: 96,103,591 (GRCm39)	T315A	probably damaging	Het
D430041D05Rik	A	G	2: 104,087,189 (GRCm39)	S596P	probably benign	Het
Dagla	A	T	19: 10,233,053 (GRCm39)	V448D	probably damaging	Het
Ddx59	A	T	1: 136,344,594 (GRCm39)	E88D	probably benign	Het
Dnhd1	A	G	7: 105,300,804 (GRCm39)	I54V	probably benign	Het
Dnttip1	A	C	2: 164,593,162 (GRCm39)	D95A	probably benign	Het
Efna3	T	C	3: 89,222,818 (GRCm39)	T207A	probably benign	Het
Eprs1	A	C	1: 185,139,895 (GRCm39)	S995R	probably benign	Het
Eprs1	G	A	1: 185,139,896 (GRCm39)	S995N	probably benign	Het
Erbb2	T	C	11: 98,311,746 (GRCm39)	V94A	possibly damaging	Het
Etl4	A	T	2: 20,771,345 (GRCm39)	I607F	possibly damaging	Het
Ets2	G	T	16: 95,516,121 (GRCm39)	E234*	probably null	Het
Fgf6	A	C	6: 126,992,814 (GRCm39)	Y89S	probably damaging	Het
Fmn2	C	T	1: 174,436,194 (GRCm39)	Q722*	probably null	Het
Gata3un	CGG	CG	2: 9,888,075 (GRCm39)		probably null	Het
Gdpd5	A	G	7: 99,103,031 (GRCm39)	D330G		Het
Glipr1	A	G	10: 111,832,801 (GRCm39)	S46P	probably damaging	Het
Gnptab	A	G	10: 88,268,992 (GRCm39)	Y565C	probably damaging	Het
H2-M10.2	C	T	17: 36,596,936 (GRCm39)	V47I	probably benign	Het
Heatr5b	T	A	17: 79,060,679 (GRCm39)	K1999*	probably null	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Kif9	G	A	9: 110,346,710 (GRCm39)	R616H	probably benign	Het
Krt87	G	T	15: 101,336,484 (GRCm39)	C56*	probably null	Het
Ldlr	A	G	9: 21,646,626 (GRCm39)	D264G	probably damaging	Het
Lrrk2	A	T	15: 91,621,420 (GRCm39)	D998V	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mmp9	A	G	2: 164,793,146 (GRCm39)	N432D	probably benign	Het
Mrc1	A	G	2: 14,324,110 (GRCm39)	N1149S	probably benign	Het
Mta1	A	T	12: 113,095,085 (GRCm39)	M448L	probably benign	Het
Myo1c	T	A	11: 75,559,899 (GRCm39)	V661E	probably benign	Het
Ndc1	T	C	4: 107,247,863 (GRCm39)		probably null	Het
Npy	A	C	6: 49,804,545 (GRCm39)	T89P	possibly damaging	Het
Or12e13	T	G	2: 87,663,478 (GRCm39)	F32V	probably benign	Het
Or52e19	A	G	7: 102,959,452 (GRCm39)	I175V	probably benign	Het
Or52e8	A	T	7: 104,624,856 (GRCm39)	M116K	probably damaging	Het
Or8b12i	A	G	9: 20,082,093 (GRCm39)	V258A	probably damaging	Het
Osgin2	G	T	4: 15,998,427 (GRCm39)	H398Q	probably damaging	Het
Pepd	A	C	7: 34,743,218 (GRCm39)	D419A	probably benign	Het
Pikfyve	A	T	1: 65,303,561 (GRCm39)	S1694C	probably benign	Het
Polq	A	G	16: 36,843,173 (GRCm39)	I236V	probably benign	Het
Prkag3	T	G	1: 74,786,378 (GRCm39)	Q189P	probably damaging	Het
Rab6b	A	T	9: 103,017,601 (GRCm39)	T31S	probably benign	Het
Ralgapb	C	T	2: 158,268,283 (GRCm39)	P129S	possibly damaging	Het
Ryr3	A	T	2: 112,491,966 (GRCm39)	L3795Q	probably damaging	Het
Sash1	C	T	10: 8,605,169 (GRCm39)	V1074M	probably benign	Het
Scfd2	T	C	5: 74,680,235 (GRCm39)	D306G	probably damaging	Het
Serpina3j	A	G	12: 104,286,093 (GRCm39)	N416S	probably damaging	Het
Serpinb6c	T	A	13: 34,081,421 (GRCm39)	Q76L	probably null	Het
Setd7	G	A	3: 51,450,139 (GRCm39)	Q96*	probably null	Het
Sf3b4	C	T	3: 96,080,946 (GRCm39)	R85W	probably damaging	Het
Sik3	T	A	9: 46,120,117 (GRCm39)	H735Q	probably benign	Het
Slain1	A	C	14: 103,902,112 (GRCm39)	T60P		Het
Slc36a3	T	C	11: 55,040,726 (GRCm39)	E69G	unknown	Het
Sorcs3	A	T	19: 48,711,364 (GRCm39)	Y643F	probably damaging	Het
Spta1	A	G	1: 174,035,880 (GRCm39)	Y1062C	probably damaging	Het
Ssc5d	C	T	7: 4,940,599 (GRCm39)	P904L	probably benign	Het
Stat5b	T	A	11: 100,699,276 (GRCm39)	H25L	possibly damaging	Het
Synj2	A	G	17: 6,063,794 (GRCm39)	I513V	probably benign	Het
Tenm2	T	C	11: 36,834,791 (GRCm39)	E68G	probably damaging	Het
Thsd7a	C	T	6: 12,352,022 (GRCm39)	G1058R		Het
Traf3ip2	T	A	10: 39,521,772 (GRCm39)	D443E	probably benign	Het
Traf6	G	T	2: 101,524,625 (GRCm39)	C235F	probably damaging	Het
Treh	A	G	9: 44,592,416 (GRCm39)	D47G	probably damaging	Het
Txndc16	A	T	14: 45,442,799 (GRCm39)	F132Y	probably damaging	Het
Uggt1	A	T	1: 36,273,886 (GRCm39)		probably null	Het
Usp25	A	T	16: 76,874,046 (GRCm39)	I541F	probably damaging	Het
Zfp51	A	G	17: 21,684,291 (GRCm39)	E302G	probably damaging	Het
Zfp648	A	T	1: 154,080,110 (GRCm39)	T90S	probably benign	Het
Zfp84	A	G	7: 29,476,264 (GRCm39)	T319A	possibly damaging	Het
Zkscan17	T	A	11: 59,378,037 (GRCm39)	H538L	probably damaging	Het
Zyg11a	G	T	4: 108,062,376 (GRCm39)	P142T	probably damaging	Het

Other mutations in Scg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Scg2	APN	1	79,414,538 (GRCm39)	missense	probably benign	0.16
IGL02083:Scg2	APN	1	79,413,941 (GRCm39)	missense	probably benign	0.00
IGL02316:Scg2	APN	1	79,413,398 (GRCm39)	missense	probably damaging	1.00
IGL02338:Scg2	APN	1	79,414,210 (GRCm39)	missense	possibly damaging	0.93
R0281:Scg2	UTSW	1	79,413,229 (GRCm39)	missense	possibly damaging	0.95
R0384:Scg2	UTSW	1	79,413,266 (GRCm39)	missense	probably benign	0.42
R0501:Scg2	UTSW	1	79,413,320 (GRCm39)	missense	probably damaging	1.00
R0909:Scg2	UTSW	1	79,413,499 (GRCm39)	missense	possibly damaging	0.74
R1773:Scg2	UTSW	1	79,413,352 (GRCm39)	missense	probably benign	0.04
R2254:Scg2	UTSW	1	79,414,217 (GRCm39)	missense	probably damaging	1.00
R4074:Scg2	UTSW	1	79,414,574 (GRCm39)	missense	probably damaging	0.97
R4076:Scg2	UTSW	1	79,414,574 (GRCm39)	missense	probably damaging	0.97
R4097:Scg2	UTSW	1	79,413,538 (GRCm39)	missense	probably damaging	0.99
R4560:Scg2	UTSW	1	79,412,898 (GRCm39)	missense	probably damaging	1.00
R4621:Scg2	UTSW	1	79,414,381 (GRCm39)	missense	probably benign	0.08
R4876:Scg2	UTSW	1	79,413,636 (GRCm39)	missense	probably damaging	1.00
R4944:Scg2	UTSW	1	79,414,193 (GRCm39)	nonsense	probably null
R5829:Scg2	UTSW	1	79,414,637 (GRCm39)	missense	probably damaging	1.00
R6158:Scg2	UTSW	1	79,413,117 (GRCm39)	missense	probably damaging	1.00
R6248:Scg2	UTSW	1	79,414,023 (GRCm39)	missense	probably benign	0.29
R6365:Scg2	UTSW	1	79,413,017 (GRCm39)	missense	probably benign
R6459:Scg2	UTSW	1	79,414,007 (GRCm39)	missense	probably damaging	1.00
R6676:Scg2	UTSW	1	79,413,499 (GRCm39)	missense	possibly damaging	0.74
R6693:Scg2	UTSW	1	79,413,737 (GRCm39)	missense	probably benign	0.01
R7259:Scg2	UTSW	1	79,414,702 (GRCm39)	missense	probably benign
R7393:Scg2	UTSW	1	79,412,948 (GRCm39)	missense	probably damaging	1.00
R7578:Scg2	UTSW	1	79,414,612 (GRCm39)	missense	probably damaging	0.99
R7608:Scg2	UTSW	1	79,413,898 (GRCm39)	missense	probably benign	0.00
R8166:Scg2	UTSW	1	79,413,300 (GRCm39)	missense	possibly damaging	0.56
R8247:Scg2	UTSW	1	79,414,236 (GRCm39)	missense	possibly damaging	0.92
R8296:Scg2	UTSW	1	79,413,222 (GRCm39)	missense	probably benign	0.13
R8308:Scg2	UTSW	1	79,414,576 (GRCm39)	missense	probably benign	0.18
R8789:Scg2	UTSW	1	79,413,500 (GRCm39)	missense	probably benign	0.05
R9252:Scg2	UTSW	1	79,414,069 (GRCm39)	missense	probably damaging	0.98
R9286:Scg2	UTSW	1	79,413,653 (GRCm39)	missense	probably damaging	1.00
R9605:Scg2	UTSW	1	79,412,936 (GRCm39)	missense	probably damaging	1.00
Z1176:Scg2	UTSW	1	79,414,506 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CTGGAGTCATCTGCCTATACATC -3'
(R):5'- AACCAGCTGAAGAGAGTGCC -3'

Sequencing Primer
(F):5'- TCATCTGCCTATACATCACTTTAAAG -3'
(R):5'- AAGAGAGTGCCCAGTCCAGTC -3'

Posted On

2022-07-18