Incidental Mutation 'R2159:Gp2'
ID 235049
Institutional Source Beutler Lab
Gene Symbol Gp2
Ensembl Gene ENSMUSG00000030954
Gene Name glycoprotein 2 zymogen granule membrane
Synonyms 2310037I18Rik
MMRRC Submission 040162-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2159 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 119041760-119058495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119051507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 236 (D236G)
Ref Sequence ENSEMBL: ENSMUSP00000033255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033255] [ENSMUST00000207887]
AlphaFold Q9D733
Predicted Effect probably benign
Transcript: ENSMUST00000033255
AA Change: D236G

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000033255
Gene: ENSMUSG00000030954
AA Change: D236G

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 benign
Transcript: ENSMUST00000207887
AA Change: D236G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 G A 12: 81,607,241 (GRCm39) P174S probably benign Het
Aida C T 1: 183,103,234 (GRCm39) P185S probably benign Het
Alg11 T G 8: 22,555,861 (GRCm39) I374R probably benign Het
Ano9 T C 7: 140,688,030 (GRCm39) I229V probably benign Het
Apob A T 12: 8,060,081 (GRCm39) L2821F probably benign Het
Atp10b C T 11: 43,042,680 (GRCm39) T80I possibly damaging Het
BC024139 T C 15: 76,005,688 (GRCm39) H478R probably damaging Het
Btbd1 A T 7: 81,450,804 (GRCm39) D325E possibly damaging Het
Camk2a G A 18: 61,090,257 (GRCm39) C199Y probably damaging Het
Casp3 A G 8: 47,087,323 (GRCm39) D90G probably damaging Het
Ccnt2 A G 1: 127,702,891 (GRCm39) H71R probably benign Het
Cdk2ap1 G A 5: 124,486,667 (GRCm39) R65* probably null Het
Cebpb G T 2: 167,531,173 (GRCm39) A78S probably benign Het
Col5a3 A G 9: 20,682,606 (GRCm39) F1613L unknown Het
Cpd T C 11: 76,688,467 (GRCm39) D935G probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cwc27 A G 13: 104,940,837 (GRCm39) I174T probably damaging Het
Cyp21a1 C A 17: 35,021,378 (GRCm39) R331L probably benign Het
Dnah5 A G 15: 28,252,691 (GRCm39) T795A probably benign Het
Eif2ak2 A G 17: 79,181,447 (GRCm39) V100A possibly damaging Het
Foxa3 A G 7: 18,748,109 (GRCm39) V339A probably benign Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Gzmd T A 14: 56,368,153 (GRCm39) H102L probably damaging Het
Klk1b1 A T 7: 43,619,857 (GRCm39) I139F probably damaging Het
Lcmt2 G A 2: 120,969,766 (GRCm39) P439L probably damaging Het
Loxl4 C T 19: 42,588,446 (GRCm39) A570T probably damaging Het
Mga T A 2: 119,750,124 (GRCm39) H674Q probably damaging Het
Mybpc3 A T 2: 90,955,715 (GRCm39) K583M probably damaging Het
Ncoa6 G T 2: 155,249,633 (GRCm39) P1224T probably damaging Het
Nostrin A G 2: 69,011,266 (GRCm39) probably null Het
Or13e8 T C 4: 43,697,110 (GRCm39) H21R probably benign Het
Or4c3 A T 2: 89,851,882 (GRCm39) V176E probably damaging Het
Oxsr1 A C 9: 119,133,880 (GRCm39) D58E possibly damaging Het
Parm1 A G 5: 91,760,923 (GRCm39) Y265C probably damaging Het
Phf10 C T 17: 15,172,926 (GRCm39) E304K probably damaging Het
Prmt5 T C 14: 54,752,795 (GRCm39) T139A probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptp4a3 A G 15: 73,623,865 (GRCm39) T32A probably benign Het
Pwwp2b A T 7: 138,834,844 (GRCm39) D95V possibly damaging Het
Rad51ap2 T C 12: 11,507,752 (GRCm39) L558S possibly damaging Het
Rapgef4 A G 2: 72,005,225 (GRCm39) D80G probably damaging Het
Sec24a T G 11: 51,603,177 (GRCm39) H757P probably damaging Het
Sema4d T C 13: 51,874,571 (GRCm39) N129D probably damaging Het
Serpini1 A G 3: 75,531,251 (GRCm39) T323A probably benign Het
Setd1a G A 7: 127,384,661 (GRCm39) R504H possibly damaging Het
Sftpb T C 6: 72,286,770 (GRCm39) C226R probably damaging Het
Sp8 T C 12: 118,812,441 (GRCm39) S99P possibly damaging Het
Srgap3 A G 6: 112,748,339 (GRCm39) F438L probably damaging Het
Stim2 T C 5: 54,267,156 (GRCm39) Y365H probably damaging Het
Stk36 A G 1: 74,673,896 (GRCm39) Q1263R probably benign Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Troap G T 15: 98,975,467 (GRCm39) A184S probably damaging Het
Ttn G A 2: 76,729,671 (GRCm39) probably benign Het
Vmn2r108 C A 17: 20,689,363 (GRCm39) A531S probably benign Het
Vmn2r12 T A 5: 109,239,340 (GRCm39) I408F probably benign Het
Vmn2r8 T A 5: 108,950,169 (GRCm39) E226V probably benign Het
Vmo1 A G 11: 70,404,608 (GRCm39) F131S probably benign Het
Vwf T C 6: 125,603,304 (GRCm39) F885L probably damaging Het
Wdpcp A T 11: 21,807,476 (GRCm39) M618L probably benign Het
Wdr90 T C 17: 26,070,715 (GRCm39) E1072G probably benign Het
Other mutations in Gp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TCCTCAAGTATCGATGGTGTGAAG -3'
(R):5'- CTTGGACCAGAGGTTTATCAGTC -3'

Sequencing Primer
(F):5'- TGAAGAGCACTTACCTCCAGGATG -3'
(R):5'- GACCAGAGGTTTATCAGTCTAAGTG -3'
Posted On 2014-10-01