Incidental Mutation 'IGL03368:Gp2'
ID420170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gp2
Ensembl Gene ENSMUSG00000030954
Gene Nameglycoprotein 2 (zymogen granule membrane)
Synonyms2310037I18Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03368
Quality Score
Status
Chromosome7
Chromosomal Location119442537-119459285 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 119452874 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 206 (C206S)
Ref Sequence ENSEMBL: ENSMUSP00000146487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033255] [ENSMUST00000207887]
Predicted Effect probably damaging
Transcript: ENSMUST00000033255
AA Change: C206S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033255
Gene: ENSMUSG00000030954
AA Change: C206S

DomainStartEndE-ValueType
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: C206S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,222,373 V1914A probably benign Het
A530053G22Rik T C 6: 60,403,545 noncoding transcript Het
Abca5 A G 11: 110,313,522 probably benign Het
Agxt2 T A 15: 10,388,170 C278* probably null Het
Ankar A G 1: 72,675,813 L384P probably damaging Het
Ankrd55 T C 13: 112,318,556 probably benign Het
Ap5m1 A G 14: 49,081,136 probably benign Het
Arhgap18 C T 10: 26,772,693 S37F possibly damaging Het
Btnl10 G A 11: 58,919,386 V118I possibly damaging Het
Chst11 C A 10: 83,092,146 P66T probably benign Het
Cited2 C A 10: 17,724,196 P84Q possibly damaging Het
D430042O09Rik T C 7: 125,868,858 probably benign Het
Dpy19l4 T A 4: 11,290,253 I302F possibly damaging Het
Ece2 A G 16: 20,644,158 E640G possibly damaging Het
Fam184b T C 5: 45,531,824 D890G possibly damaging Het
Fam227b A T 2: 126,119,063 D215E probably damaging Het
Foxp2 A G 6: 15,394,718 K139R probably damaging Het
Gle1 T C 2: 29,943,793 C401R probably damaging Het
Hdgfl2 G T 17: 56,079,746 probably benign Het
Hmcn1 T C 1: 150,663,872 N2956S probably damaging Het
Ifi209 A G 1: 173,642,491 Q215R possibly damaging Het
Il20rb C T 9: 100,459,121 probably benign Het
Kif26b A C 1: 178,916,208 S1290R probably damaging Het
Mical1 A G 10: 41,479,629 I156M probably damaging Het
Nbas C T 12: 13,328,451 A613V probably benign Het
Nbea C T 3: 56,079,930 V380M probably damaging Het
Nutf2 T C 8: 105,875,600 F14S probably damaging Het
Olfr1260 A T 2: 89,977,789 I4L probably benign Het
Olfr582 T A 7: 103,041,765 H95Q possibly damaging Het
Parp1 A G 1: 180,580,622 E236G probably benign Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Ptcd2 T A 13: 99,330,069 probably benign Het
Pygl T C 12: 70,191,152 Q704R probably benign Het
Scaper A T 9: 55,656,027 S492T possibly damaging Het
Sephs1 G A 2: 4,889,269 D94N possibly damaging Het
Slc22a29 A C 19: 8,207,262 probably null Het
Slc22a8 G T 19: 8,609,119 probably benign Het
Slfn5 A G 11: 82,956,385 D32G possibly damaging Het
Sphkap T A 1: 83,275,676 T1451S probably benign Het
Srp54a A C 12: 55,091,266 E63A probably null Het
Stap1 T A 5: 86,090,968 I165N probably damaging Het
Terf2 T C 8: 107,070,549 E494G probably damaging Het
Trak1 C A 9: 121,367,122 L7I possibly damaging Het
Twnk T C 19: 45,010,492 V557A probably damaging Het
U2af2 T A 7: 5,067,264 probably benign Het
Ube2j1 T A 4: 33,038,317 I75N probably damaging Het
Ubr5 A G 15: 37,998,316 V1643A probably damaging Het
Vsx2 A G 12: 84,570,300 T120A probably benign Het
Other mutations in Gp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 On2016-08-02