Mutagenetix > Incidental Mutation

Incidental Mutation 'R5033:Gp2'

389368

Institutional Source

Beutler Lab

Gene Symbol

Gp2

Ensembl Gene

ENSMUSG00000030954

Gene Name

glycoprotein 2 (zymogen granule membrane)

Synonyms

2310037I18Rik

MMRRC Submission

042624-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5033 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119442537-119459285 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119454291 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 149 (V149A)

Ref Sequence

ENSEMBL: ENSMUSP00000033255 (fasta)

Gene Model

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

AlphaFold

Q9D733

Predicted Effect

probably damaging
Transcript: ENSMUST00000033255
AA Change: V149A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033255
Gene: ENSMUSG00000030954
AA Change: V149A

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: V149A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,279,414	V149A	probably benign	Het
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
4931406P16Rik	C	T	7: 34,245,812	G336S	probably benign	Het
9930111J21Rik1	G	A	11: 48,947,706	R685W	probably damaging	Het
Arhgap10	A	T	8: 77,382,757	L399H	probably damaging	Het
Arih2	AGCCG	AG	9: 108,611,660		probably benign	Het
Atp13a2	A	G	4: 141,000,821	H575R	possibly damaging	Het
Bbof1	G	A	12: 84,411,270		probably null	Het
Catsperg2	A	C	7: 29,710,134	Y545D	possibly damaging	Het
Cdc42bpa	T	A	1: 180,065,015	I248N	probably damaging	Het
Cdk11b	A	T	4: 155,648,825		probably benign	Het
Cfap46	C	A	7: 139,603,860	L90F	probably benign	Het
Cndp2	A	G	18: 84,670,829	L276P	possibly damaging	Het
Col3a1	A	C	1: 45,346,110	D129A	probably damaging	Het
Daam1	C	A	12: 71,946,520	H354Q	unknown	Het
Dnah5	T	A	15: 28,421,678	F3892Y	probably damaging	Het
Dnajb3	A	G	1: 88,205,023	V219A	possibly damaging	Het
Drd5	A	G	5: 38,320,201	H179R	probably damaging	Het
Dym	A	G	18: 75,119,161	N333D	possibly damaging	Het
Eif2b3	A	G	4: 117,052,736	D156G	probably damaging	Het
Emc1	A	G	4: 139,371,696	D830G	probably damaging	Het
F13a1	A	C	13: 36,988,856	I183M	probably damaging	Het
Fam136b-ps	T	A	15: 31,276,897		probably benign	Het
Fdft1	C	A	14: 63,163,404	K93N	probably damaging	Het
Gcc2	A	G	10: 58,278,806	D959G	probably damaging	Het
Gm14085	T	A	2: 122,522,914		probably null	Het
Gm853	C	T	4: 130,221,615		probably null	Het
Gpc1	G	A	1: 92,857,029	G308D	probably damaging	Het
Hdac9	A	T	12: 34,373,907	C587S	probably benign	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Iars2	A	G	1: 185,317,928	V453A	possibly damaging	Het
Il1r1	T	G	1: 40,293,524	C121W	probably damaging	Het
Jazf1	A	G	6: 52,777,540	Y184H	probably damaging	Het
Kel	A	T	6: 41,699,055	Y234N	probably damaging	Het
Khk	G	A	5: 30,929,660	G186D	probably damaging	Het
Klf4	A	T	4: 55,530,301	M270K	probably benign	Het
Kmt2c	G	A	5: 25,314,708	L2135F	probably benign	Het
Krtap15	A	G	16: 88,829,156	Y37C	probably damaging	Het
Lars	A	G	18: 42,214,776	F994S	possibly damaging	Het
Lrp8	T	C	4: 107,834,755		probably null	Het
Lrrc2	A	T	9: 110,980,919	D341V	probably damaging	Het
Map4k4	A	G	1: 40,007,502	K646R	probably damaging	Het
Mrps9	T	A	1: 42,895,331		probably null	Het
Olfr1130	T	A	2: 87,607,711	C108S	probably damaging	Het
Olfr745	T	A	14: 50,643,162	Y288N	probably damaging	Het
Olfr898	C	T	9: 38,349,628	H176Y	probably damaging	Het
Pcnt	A	T	10: 76,399,945	C1401S	possibly damaging	Het
Pdgfrb	A	T	18: 61,077,668	K749M	probably damaging	Het
Pigo	A	T	4: 43,019,412	W969R	probably null	Het
Pigr	A	T	1: 130,844,699	Y218F	probably damaging	Het
Pih1d1	A	G	7: 45,154,854		probably benign	Het
Pik3cg	A	T	12: 32,199,196		probably null	Het
Pik3r6	A	T	11: 68,533,468	K300*	probably null	Het
Pip5k1c	A	G	10: 81,305,250	D64G	probably damaging	Het
Piwil2	A	T	14: 70,421,593	I161K	possibly damaging	Het
Pou3f1	A	G	4: 124,658,656	E317G	probably damaging	Het
Prdm8	C	T	5: 98,185,212	Q213*	probably null	Het
Prpf6	T	A	2: 181,650,106	C739S	possibly damaging	Het
Psmc3	T	A	2: 91,054,608	S40T	probably benign	Het
Psmd3	A	T	11: 98,682,824	D32V	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rapgef6	A	T	11: 54,691,381	H1373L	possibly damaging	Het
Rnf207	A	C	4: 152,313,209	S328A	probably benign	Het
Ros1	C	T	10: 52,128,416		probably null	Het
Ryr2	T	A	13: 11,587,254	I4581F	possibly damaging	Het
Sacm1l	C	T	9: 123,586,399	R480W	probably damaging	Het
Sec16a	A	G	2: 26,419,649	V664A	probably benign	Het
Selenoo	T	A	15: 89,092,766	M207K	probably damaging	Het
Sh3tc2	G	A	18: 62,014,891		probably null	Het
Slco2b1	G	T	7: 99,660,049	Q692K	probably benign	Het
Slfn4	A	T	11: 83,186,797	D137V	probably damaging	Het
Srrm2	G	A	17: 23,820,618	A2175T	probably damaging	Het
Stard9	T	A	2: 120,693,399	C692S	probably benign	Het
Sulf2	T	A	2: 166,081,622	D559V	probably benign	Het
Tbpl2	T	C	2: 24,087,158	I283V	probably benign	Het
Tmem19	A	G	10: 115,359,761	F46S	probably benign	Het
Trp63	T	A	16: 25,763,306	Y35N	probably damaging	Het
Ttn	T	A	2: 76,886,442		probably benign	Het
Ube2z	A	T	11: 96,050,322	H331Q	probably benign	Het
Ubr1	C	T	2: 120,911,997		probably null	Het
Uhrf1bp1	A	G	17: 27,886,864	E788G	probably damaging	Het
Vmn1r235	A	T	17: 21,262,288	I292F	possibly damaging	Het
Vmn2r1	T	A	3: 64,105,080	D787E	probably damaging	Het
Vmn2r3	A	G	3: 64,259,799	V637A	probably benign	Het
Xpnpep1	C	A	19: 53,006,175	V341L	probably benign	Het
Yme1l1	A	G	2: 23,194,747	D619G	probably damaging	Het
Zfp597	G	A	16: 3,866,638	P85S	probably damaging	Het
Zscan20	A	G	4: 128,586,128	S857P	probably benign	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
IGL03369:Gp2	APN	7	119451560	missense	probably damaging	0.98
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
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
R8165:Gp2	UTSW	7	119450152	missense	probably damaging	1.00
R8343:Gp2	UTSW	7	119442787	missense	probably benign	0.01
R8344:Gp2	UTSW	7	119442787	missense	probably benign	0.01
R8345:Gp2	UTSW	7	119442787	missense	probably benign	0.01
R8431:Gp2	UTSW	7	119442787	missense	probably benign	0.01
R8432:Gp2	UTSW	7	119442787	missense	probably benign	0.01
R8463:Gp2	UTSW	7	119454331	missense	probably damaging	1.00
R9169:Gp2	UTSW	7	119442706	missense	probably benign
R9439:Gp2	UTSW	7	119454210	missense	probably damaging	1.00
X0026:Gp2	UTSW	7	119442819	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTGTCAAGAGTCCAGTGGTG -3'
(R):5'- GATGATAACCTGCACGGCTG -3'

Sequencing Primer
(F):5'- AAGAGTCCAGTGGTGGCTGC -3'
(R):5'- CCTGCACGGCTGGTACC -3'

Posted On

2016-06-06