Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03369:Gp2'

420227

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gp2

Ensembl Gene

ENSMUSG00000030954

Gene Name

glycoprotein 2 (zymogen granule membrane)

Synonyms

2310037I18Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03369

Quality Score

Status

Chromosome

Chromosomal Location

119442537-119459285 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119451560 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 316 (Q316L)

Ref Sequence

ENSEMBL: ENSMUSP00000146487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033255] [ENSMUST00000207887]

Predicted Effect

probably damaging
Transcript: ENSMUST00000033255
AA Change: Q316L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033255
Gene: ENSMUSG00000030954
AA Change: Q316L

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Blast:ZP	164	213	1e-11	BLAST
ZP	225	477	5.39e-79	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000207887
AA Change: Q316L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that is secreted from intracellular zymogen granules and associates with the plasma membrane via glycosylphosphatidylinositol (GPI) linkage. The encoded protein binds pathogens such as enterobacteria, thereby playing an important role in the innate immune response. The C-terminus of this protein is related to the C-terminus of the protein encoded by the neighboring gene, uromodulin (UMOD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygous null mice display no obvious abnormalities in pancreas morphology and function, development, growth, weight, behavior, life span, or fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,356,421	N72S	possibly damaging	Het
A2m	G	A	6: 121,676,903		probably null	Het
Angptl3	A	T	4: 99,034,820		probably benign	Het
Aox4	A	G	1: 58,262,587	D1106G	probably benign	Het
Capn13	G	A	17: 73,341,154		probably benign	Het
Cep250	A	G	2: 155,990,271	H1371R	probably benign	Het
Chrna1	A	T	2: 73,570,445	F247Y	probably benign	Het
Col2a1	T	C	15: 97,982,042	T813A	unknown	Het
Dab2	T	C	15: 6,435,309	V414A	possibly damaging	Het
Dach2	T	C	X: 113,556,240		probably benign	Het
Fap	A	G	2: 62,503,355		probably benign	Het
Fgd5	T	A	6: 91,988,415	V385D	probably damaging	Het
Fmnl1	A	G	11: 103,197,182		probably null	Het
Gm8765	G	T	13: 50,703,164	C946F	possibly damaging	Het
Gorasp2	G	A	2: 70,682,992	G201D	probably damaging	Het
Gpx8	T	C	13: 113,043,162	I202V	probably damaging	Het
Gsta3	A	G	1: 21,264,949	K218R	probably benign	Het
Lama3	C	T	18: 12,553,283	T1195I	probably benign	Het
Map3k12	T	C	15: 102,502,079	R488G	possibly damaging	Het
Mapt	A	T	11: 104,282,433	Y18F	probably damaging	Het
Med21	T	C	6: 146,642,645	V12A	probably benign	Het
Mgat4b	A	G	11: 50,234,109	E457G	possibly damaging	Het
Mybl1	T	A	1: 9,672,555	K609N	probably damaging	Het
Ncaph2	T	G	15: 89,363,655	V75G	probably benign	Het
Neb	A	G	2: 52,178,037	Y5795H	probably benign	Het
Nup153	A	G	13: 46,700,983		probably null	Het
Olfr220	T	A	1: 174,448,869	I82N	probably damaging	Het
Olfr811	T	C	10: 129,802,471	D18G	probably damaging	Het
Plekhf2	G	T	4: 10,990,703	T213K	probably benign	Het
Plekho2	C	A	9: 65,559,494	G105W	probably damaging	Het
Polr3b	G	A	10: 84,676,952	G566D	probably damaging	Het
Rasgrf1	T	C	9: 90,010,451	I1068T	probably damaging	Het
Rnf213	A	T	11: 119,421,468	E907V	probably benign	Het
Runx1t1	C	T	4: 13,881,107	S469F	probably damaging	Het
Top1	A	T	2: 160,693,727	D182V	unknown	Het
Uckl1	T	C	2: 181,570,189	T375A	probably benign	Het
Usp53	A	T	3: 122,933,721		probably benign	Het
Vmn2r61	T	A	7: 42,260,093	I14N	probably benign	Het
Wbp4	A	T	14: 79,470,118	N184K	probably damaging	Het

Other mutations in Gp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Gp2	APN	7	119454390	missense	probably damaging	0.96
IGL00818:Gp2	APN	7	119450127	missense	possibly damaging	0.82
IGL01830:Gp2	APN	7	119451542	missense	probably damaging	1.00
IGL02088:Gp2	APN	7	119454469	missense	probably damaging	1.00
IGL02284:Gp2	APN	7	119450183	missense	probably damaging	1.00
IGL02812:Gp2	APN	7	119452229	missense	probably benign	0.01
IGL03049:Gp2	APN	7	119450294	missense	possibly damaging	0.82
IGL03368:Gp2	APN	7	119452874	missense	probably damaging	1.00
PIT4687001:Gp2	UTSW	7	119451578	missense	possibly damaging	0.48
R0179:Gp2	UTSW	7	119452317	missense	possibly damaging	0.81
R0367:Gp2	UTSW	7	119454568	missense	probably damaging	1.00
R0544:Gp2	UTSW	7	119454496	missense	probably benign	0.00
R0973:Gp2	UTSW	7	119454543	missense	probably damaging	1.00
R0973:Gp2	UTSW	7	119454543	missense	probably damaging	1.00
R0974:Gp2	UTSW	7	119454543	missense	probably damaging	1.00
R1413:Gp2	UTSW	7	119451630	missense	probably benign	0.15
R1557:Gp2	UTSW	7	119450079	missense	probably damaging	1.00
R1638:Gp2	UTSW	7	119451498	critical splice donor site	probably null
R1709:Gp2	UTSW	7	119451585	missense	probably null	1.00
R1932:Gp2	UTSW	7	119454232	missense	possibly damaging	0.81
R2109:Gp2	UTSW	7	119452932	missense	probably benign
R2159:Gp2	UTSW	7	119452284	missense	probably benign	0.06
R2285:Gp2	UTSW	7	119450085	missense	possibly damaging	0.82
R4657:Gp2	UTSW	7	119457168	missense	probably benign	0.38
R4829:Gp2	UTSW	7	119457184	missense	possibly damaging	0.56
R4854:Gp2	UTSW	7	119452199	missense	possibly damaging	0.72
R4927:Gp2	UTSW	7	119452895	missense	probably benign	0.00
R5022:Gp2	UTSW	7	119449114	missense	probably damaging	1.00
R5033:Gp2	UTSW	7	119454291	missense	probably damaging	0.99
R5443:Gp2	UTSW	7	119454598	missense	possibly damaging	0.60
R5444:Gp2	UTSW	7	119454598	missense	possibly damaging	0.60
R5681:Gp2	UTSW	7	119452294	missense	possibly damaging	0.92
R5732:Gp2	UTSW	7	119449108	missense	probably damaging	1.00
R5964:Gp2	UTSW	7	119449129	missense	probably benign	0.02
R6963:Gp2	UTSW	7	119452897	missense	probably benign	0.03
R7014:Gp2	UTSW	7	119451645	missense	probably damaging	1.00
R7087:Gp2	UTSW	7	119450232	missense	probably damaging	0.99
R7223:Gp2	UTSW	7	119451498	critical splice donor site	probably null
R7497:Gp2	UTSW	7	119454606	missense	probably damaging	1.00
X0026:Gp2	UTSW	7	119442819	missense	probably benign	0.01

Posted On

2016-08-02