Mutagenetix > Incidental Mutation

Incidental Mutation 'R1638:Gp2'

173306

Institutional Source

Beutler Lab

Gene Symbol

Gp2

Ensembl Gene

ENSMUSG00000030954

Gene Name

glycoprotein 2 zymogen granule membrane

Synonyms

2310037I18Rik

MMRRC Submission

039674-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119041760-119058495 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 119050721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146487 (fasta)

Gene Model

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

AlphaFold

Q9D733

Predicted Effect

probably null
Transcript: ENSMUST00000033255

SMART Domains

Protein: ENSMUSP00000033255
Gene: ENSMUSG00000030954

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 null
Transcript: ENSMUST00000207887

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 94.9%
20x: 87.8%

Validation Efficiency

99% (79/80)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Adamts13	A	G	2: 26,886,595 (GRCm39)	E938G	possibly damaging	Het
Agfg1	A	T	1: 82,871,259 (GRCm39)	Q497L	probably damaging	Het
Ahnak	A	G	19: 8,986,813 (GRCm39)	H2699R	probably benign	Het
Antxrl	G	T	14: 33,792,453 (GRCm39)		probably null	Het
Apol7c	A	T	15: 77,410,418 (GRCm39)	V176E	probably damaging	Het
Arid5b	T	C	10: 68,113,777 (GRCm39)	N87D	possibly damaging	Het
Atp2c1	A	T	9: 105,309,897 (GRCm39)	I560N	probably damaging	Het
Atp2c2	T	C	8: 120,482,742 (GRCm39)	F868S	possibly damaging	Het
Blnk	G	C	19: 40,926,122 (GRCm39)	F326L	probably benign	Het
Bltp1	C	T	3: 37,089,961 (GRCm39)	R4130*	probably null	Het
Ckap2	C	T	8: 22,665,812 (GRCm39)	V412I	possibly damaging	Het
Clmn	A	G	12: 104,748,281 (GRCm39)	V422A	probably benign	Het
Ctnnal1	A	G	4: 56,813,856 (GRCm39)	S638P	probably benign	Het
Cyp2j5	T	C	4: 96,524,052 (GRCm39)	S327G	probably benign	Het
Dhx38	G	A	8: 110,280,177 (GRCm39)	T871M	probably damaging	Het
Dmxl1	A	T	18: 50,023,834 (GRCm39)	K1706*	probably null	Het
Dnah11	A	G	12: 117,979,154 (GRCm39)	L2648P	possibly damaging	Het
Elf2	G	A	3: 51,215,530 (GRCm39)	T60I	probably damaging	Het
Fam120b	T	A	17: 15,622,759 (GRCm39)	C246S	possibly damaging	Het
Fcho2	G	T	13: 98,882,403 (GRCm39)	T451K	possibly damaging	Het
Fzd9	T	A	5: 135,278,602 (GRCm39)	I428F	probably damaging	Het
Galnt13	T	A	2: 54,744,667 (GRCm39)	V122E	probably damaging	Het
Gm21738	T	A	14: 19,418,908 (GRCm38)	Y8F	probably benign	Het
Gnptab	A	G	10: 88,272,029 (GRCm39)	I940V	possibly damaging	Het
Gpr6	A	G	10: 40,946,530 (GRCm39)	S351P	probably benign	Het
Gprin1	T	C	13: 54,887,689 (GRCm39)	E195G	possibly damaging	Het
Grm8	A	T	6: 28,125,882 (GRCm39)	Y81*	probably null	Het
Gtf3c3	A	T	1: 54,444,278 (GRCm39)	N703K	probably damaging	Het
Hhipl2	G	A	1: 183,208,921 (GRCm39)	V495I	probably benign	Het
Islr	G	A	9: 58,065,502 (GRCm39)		probably benign	Het
Lrrc36	T	C	8: 106,176,273 (GRCm39)	Y216H	possibly damaging	Het
Macroh2a1	T	A	13: 56,252,722 (GRCm39)	N87Y	probably damaging	Het
Me2	A	G	18: 73,906,205 (GRCm39)	I528T	probably benign	Het
Mecr	A	T	4: 131,585,127 (GRCm39)	I156F	possibly damaging	Het
Megf6	A	G	4: 154,346,967 (GRCm39)		probably benign	Het
Mn1	T	A	5: 111,569,435 (GRCm39)	L1135H	probably damaging	Het
Naip5	A	G	13: 100,349,177 (GRCm39)	S1384P	probably damaging	Het
Nav2	A	G	7: 49,102,213 (GRCm39)	N337S	probably benign	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Neb	A	T	2: 52,139,293 (GRCm39)	H3107Q	probably benign	Het
Nebl	A	G	2: 17,381,462 (GRCm39)	V738A	possibly damaging	Het
Nsd2	G	A	5: 34,039,464 (GRCm39)	R825Q	possibly damaging	Het
Nsun2	A	G	13: 69,775,705 (GRCm39)	N383S	probably damaging	Het
Ntrk3	A	T	7: 77,897,036 (GRCm39)	M667K	probably damaging	Het
Or10a48	A	C	7: 108,424,442 (GRCm39)	C255G	probably benign	Het
Or11h6	G	A	14: 50,880,565 (GRCm39)	V276M	possibly damaging	Het
Or1e29	A	G	11: 73,667,974 (GRCm39)	Y60H	possibly damaging	Het
Or6c2	A	T	10: 129,362,488 (GRCm39)	M131L	probably benign	Het
Pex6	T	C	17: 47,033,558 (GRCm39)	V633A	probably benign	Het
Phactr1	C	T	13: 43,110,147 (GRCm39)	T95M	probably damaging	Het
Pik3r4	A	G	9: 105,564,408 (GRCm39)	D1334G	probably damaging	Het
Pkhd1l1	A	C	15: 44,460,513 (GRCm39)	I4241L	probably benign	Het
Ppwd1	T	C	13: 104,356,771 (GRCm39)	E248G	probably damaging	Het
Prepl	A	C	17: 85,379,509 (GRCm39)	M393R	probably benign	Het
Ptpn6	T	C	6: 124,698,148 (GRCm39)	S532G	probably benign	Het
Rnase11	G	T	14: 51,287,058 (GRCm39)	H165Q	possibly damaging	Het
Sf1	A	G	19: 6,422,090 (GRCm39)	N172S	possibly damaging	Het
Shprh	T	A	10: 11,032,822 (GRCm39)	D269E	probably benign	Het
Slc16a1	T	C	3: 104,556,798 (GRCm39)	I61T	possibly damaging	Het
Slc38a2	A	C	15: 96,590,417 (GRCm39)	I309S	probably damaging	Het
Sry	C	G	Y: 2,663,149 (GRCm39)	Q170H	unknown	Het
Stk3	A	C	15: 35,008,454 (GRCm39)		probably null	Het
Tg	C	A	15: 66,568,015 (GRCm39)	C1306*	probably null	Het
Tnik	A	G	3: 28,719,889 (GRCm39)	M1254V	probably damaging	Het
U2surp	T	C	9: 95,366,280 (GRCm39)	E474G	possibly damaging	Het
Vmn1r224	T	A	17: 20,639,587 (GRCm39)	F55I	probably benign	Het
Vmn1r32	A	G	6: 66,529,939 (GRCm39)	I279T	possibly damaging	Het
Zc2hc1a	A	G	3: 7,581,543 (GRCm39)	D15G	probably benign	Het
Zfp827	C	A	8: 79,802,975 (GRCm39)	P516T	possibly damaging	Het
Zfyve9	A	T	4: 108,542,104 (GRCm39)		probably null	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
IGL03049:Gp2	APN	7	119,049,517 (GRCm39)	missense	possibly damaging	0.82
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
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

Predicted Primers

PCR Primer
(F):5'- AGCATGTGTCCAAGGTACAGCG -3'
(R):5'- GGCTGGGAACACTGACCATAGAAC -3'

Sequencing Primer
(F):5'- GAATGTCTTCATTATTCACCAGTGC -3'
(R):5'- GTTCAAGATATACCTACACACATCTG -3'

Posted On

2014-04-24