Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03049:Gp2'

409010

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03049

Quality Score

Status

Chromosome

Chromosomal Location

119041760-119058495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119049517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 340 (V340A)

Ref Sequence

ENSEMBL: ENSMUSP00000146487 (fasta)

Gene Model

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

AlphaFold

Q9D733

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033255
AA Change: V340A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000033255
Gene: ENSMUSG00000030954
AA Change: V340A

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

possibly damaging
Transcript: ENSMUST00000207887
AA Change: V340A

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef19	A	G	4: 140,981,627 (GRCm39)	H645R	probably damaging	Het
Asic5	A	G	3: 81,904,256 (GRCm39)		probably benign	Het
Atp6v0a2	T	C	5: 124,789,845 (GRCm39)	F424L	probably damaging	Het
Clca4a	A	T	3: 144,676,516 (GRCm39)		probably benign	Het
Eif3k	A	G	7: 28,670,858 (GRCm39)	S178P	possibly damaging	Het
Elp2	C	T	18: 24,764,516 (GRCm39)	T621I	probably benign	Het
Exoc3l4	T	C	12: 111,389,835 (GRCm39)	S137P	probably damaging	Het
Gm14393	C	A	2: 174,903,581 (GRCm39)	G109C	probably damaging	Het
Hic2	A	G	16: 17,075,800 (GRCm39)	S210G	probably benign	Het
Lcn3	T	A	2: 25,655,586 (GRCm39)	M1K	probably null	Het
Ldlr	A	G	9: 21,657,115 (GRCm39)	E692G	probably benign	Het
Ly75	T	C	2: 60,182,414 (GRCm39)	N587S	probably damaging	Het
Msh2	T	C	17: 88,015,937 (GRCm39)	F523S	probably damaging	Het
Mtmr4	T	A	11: 87,505,060 (GRCm39)	I1185N	probably damaging	Het
Ncoa6	T	A	2: 155,260,934 (GRCm39)	K519N	probably damaging	Het
Or4c103	C	T	2: 88,513,834 (GRCm39)	V81M	possibly damaging	Het
Or52z14	A	T	7: 103,253,298 (GRCm39)	I146F	probably damaging	Het
Or7c70	T	A	10: 78,683,356 (GRCm39)	H131L	possibly damaging	Het
Ppp1r13b	T	C	12: 111,799,663 (GRCm39)	T705A	probably benign	Het
Ripor1	A	G	8: 106,342,079 (GRCm39)	D119G	probably damaging	Het
Scn10a	A	G	9: 119,495,056 (GRCm39)	V395A	probably damaging	Het
Slc18b1	T	C	10: 23,698,844 (GRCm39)	V338A	probably benign	Het
Usp10	A	G	8: 120,683,366 (GRCm39)	T746A	probably benign	Het

Other mutations in Gp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Gp2	APN	7	119,053,613 (GRCm39)	missense	probably damaging	0.96
IGL00818:Gp2	APN	7	119,049,350 (GRCm39)	missense	possibly damaging	0.82
IGL01830:Gp2	APN	7	119,050,765 (GRCm39)	missense	probably damaging	1.00
IGL02088:Gp2	APN	7	119,053,692 (GRCm39)	missense	probably damaging	1.00
IGL02284:Gp2	APN	7	119,049,406 (GRCm39)	missense	probably damaging	1.00
IGL02812:Gp2	APN	7	119,051,452 (GRCm39)	missense	probably benign	0.01
IGL03368:Gp2	APN	7	119,052,097 (GRCm39)	missense	probably damaging	1.00
IGL03369:Gp2	APN	7	119,050,783 (GRCm39)	missense	probably damaging	0.98
PIT4687001:Gp2	UTSW	7	119,050,801 (GRCm39)	missense	possibly damaging	0.48
R0179:Gp2	UTSW	7	119,051,540 (GRCm39)	missense	possibly damaging	0.81
R0367:Gp2	UTSW	7	119,053,791 (GRCm39)	missense	probably damaging	1.00
R0544:Gp2	UTSW	7	119,053,719 (GRCm39)	missense	probably benign	0.00
R0973:Gp2	UTSW	7	119,053,766 (GRCm39)	missense	probably damaging	1.00
R0973:Gp2	UTSW	7	119,053,766 (GRCm39)	missense	probably damaging	1.00
R0974:Gp2	UTSW	7	119,053,766 (GRCm39)	missense	probably damaging	1.00
R1413:Gp2	UTSW	7	119,050,853 (GRCm39)	missense	probably benign	0.15
R1557:Gp2	UTSW	7	119,049,302 (GRCm39)	missense	probably damaging	1.00
R1638:Gp2	UTSW	7	119,050,721 (GRCm39)	critical splice donor site	probably null
R1709:Gp2	UTSW	7	119,050,808 (GRCm39)	missense	probably null	1.00
R1932:Gp2	UTSW	7	119,053,455 (GRCm39)	missense	possibly damaging	0.81
R2109:Gp2	UTSW	7	119,052,155 (GRCm39)	missense	probably benign
R2159:Gp2	UTSW	7	119,051,507 (GRCm39)	missense	probably benign	0.06
R2285:Gp2	UTSW	7	119,049,308 (GRCm39)	missense	possibly damaging	0.82
R4657:Gp2	UTSW	7	119,056,391 (GRCm39)	missense	probably benign	0.38
R4829:Gp2	UTSW	7	119,056,407 (GRCm39)	missense	possibly damaging	0.56
R4854:Gp2	UTSW	7	119,051,422 (GRCm39)	missense	possibly damaging	0.72
R4927:Gp2	UTSW	7	119,052,118 (GRCm39)	missense	probably benign	0.00
R5022:Gp2	UTSW	7	119,048,337 (GRCm39)	missense	probably damaging	1.00
R5033:Gp2	UTSW	7	119,053,514 (GRCm39)	missense	probably damaging	0.99
R5443:Gp2	UTSW	7	119,053,821 (GRCm39)	missense	possibly damaging	0.60
R5444:Gp2	UTSW	7	119,053,821 (GRCm39)	missense	possibly damaging	0.60
R5681:Gp2	UTSW	7	119,051,517 (GRCm39)	missense	possibly damaging	0.92
R5732:Gp2	UTSW	7	119,048,331 (GRCm39)	missense	probably damaging	1.00
R5964:Gp2	UTSW	7	119,048,352 (GRCm39)	missense	probably benign	0.02
R6963:Gp2	UTSW	7	119,052,120 (GRCm39)	missense	probably benign	0.03
R7014:Gp2	UTSW	7	119,050,868 (GRCm39)	missense	probably damaging	1.00
R7087:Gp2	UTSW	7	119,049,455 (GRCm39)	missense	probably damaging	0.99
R7223:Gp2	UTSW	7	119,050,721 (GRCm39)	critical splice donor site	probably null
R7497:Gp2	UTSW	7	119,053,829 (GRCm39)	missense	probably damaging	1.00
R8165:Gp2	UTSW	7	119,049,375 (GRCm39)	missense	probably damaging	1.00
R8343:Gp2	UTSW	7	119,042,010 (GRCm39)	missense	probably benign	0.01
R8344:Gp2	UTSW	7	119,042,010 (GRCm39)	missense	probably benign	0.01
R8345:Gp2	UTSW	7	119,042,010 (GRCm39)	missense	probably benign	0.01
R8431:Gp2	UTSW	7	119,042,010 (GRCm39)	missense	probably benign	0.01
R8432:Gp2	UTSW	7	119,042,010 (GRCm39)	missense	probably benign	0.01
R8463:Gp2	UTSW	7	119,053,554 (GRCm39)	missense	probably damaging	1.00
R9169:Gp2	UTSW	7	119,041,929 (GRCm39)	missense	probably benign
R9439:Gp2	UTSW	7	119,053,433 (GRCm39)	missense	probably damaging	1.00
X0026:Gp2	UTSW	7	119,042,042 (GRCm39)	missense	probably benign	0.01

Posted On

2016-08-02