Incidental Mutation 'IGL03369:Gp2'
ID420227
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 #IGL03369
Quality Score
Status
Chromosome7
Chromosomal Location119442537-119459285 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 119451560 bp
ZygosityHeterozygous
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

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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
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
X0026:Gp2 UTSW 7 119442819 missense probably benign 0.01
Posted On2016-08-02