Incidental Mutation 'R1557:Gp2'
ID 170346
Institutional Source Beutler Lab
Gene Symbol Gp2
Ensembl Gene ENSMUSG00000030954
Gene Name glycoprotein 2 zymogen granule membrane
Synonyms 2310037I18Rik
MMRRC Submission 039596-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1557 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 119041760-119058495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 119049302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 412 (Y412D)
Ref Sequence ENSEMBL: ENSMUSP00000146487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033255] [ENSMUST00000207887]
AlphaFold Q9D733
Predicted Effect probably damaging
Transcript: ENSMUST00000033255
AA Change: Y412D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033255
Gene: ENSMUSG00000030954
AA Change: Y412D

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: Y412D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.8771 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 96% (75/78)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A C 1: 53,221,025 (GRCm39) D68E possibly damaging Het
Abca3 T C 17: 24,618,954 (GRCm39) V870A possibly damaging Het
Aldh3a2 A T 11: 61,139,885 (GRCm39) F416I probably damaging Het
Armc6 A T 8: 70,678,098 (GRCm39) L77Q possibly damaging Het
Asb17 A G 3: 153,556,570 (GRCm39) I226V probably benign Het
Aspm A G 1: 139,396,406 (GRCm39) I862V probably benign Het
Atr T A 9: 95,753,502 (GRCm39) D701E probably damaging Het
Baz1b C T 5: 135,247,097 (GRCm39) L849F possibly damaging Het
Cbr1 T C 16: 93,405,677 (GRCm39) V97A probably benign Het
Cep295 G A 9: 15,243,306 (GRCm39) Q1669* probably null Het
Cfap54 T C 10: 92,820,089 (GRCm39) T1242A possibly damaging Het
Chrm3 T A 13: 9,928,350 (GRCm39) T229S possibly damaging Het
Cimip4 C A 15: 78,270,474 (GRCm39) R98M probably damaging Het
Cnga3 A G 1: 37,300,066 (GRCm39) Y300C probably damaging Het
Col14a1 A C 15: 55,251,975 (GRCm39) I544L unknown Het
Crocc T C 4: 140,752,776 (GRCm39) E1208G probably damaging Het
Cyp2j8 A T 4: 96,358,713 (GRCm39) probably benign Het
Dcbld2 T C 16: 58,285,713 (GRCm39) I624T possibly damaging Het
Ddah1 A C 3: 145,597,227 (GRCm39) I258L probably benign Het
Dnah6 G A 6: 73,026,114 (GRCm39) Q3460* probably null Het
Dync2h1 T A 9: 7,140,911 (GRCm39) D1372V probably damaging Het
Egln1 G A 8: 125,674,980 (GRCm39) R272* probably null Het
Elf1 A G 14: 79,804,620 (GRCm39) D95G possibly damaging Het
Fkbp5 A G 17: 28,621,729 (GRCm39) F374L probably damaging Het
Fli1 T C 9: 32,372,540 (GRCm39) probably benign Het
Gabbr2 T C 4: 46,846,436 (GRCm39) T158A probably damaging Het
Hmcn1 A G 1: 150,610,283 (GRCm39) V1462A possibly damaging Het
Ide T C 19: 37,258,160 (GRCm39) probably null Het
Kalrn T C 16: 34,134,648 (GRCm39) K372R possibly damaging Het
Kcnj16 A G 11: 110,916,067 (GRCm39) D243G possibly damaging Het
Kif7 A G 7: 79,363,905 (GRCm39) M1T probably null Het
Klri2 A T 6: 129,709,174 (GRCm39) L226Q probably damaging Het
Kremen1 T C 11: 5,165,373 (GRCm39) probably null Het
Lama3 T C 18: 12,646,788 (GRCm39) probably benign Het
Lmln C A 16: 32,908,581 (GRCm39) R336S probably benign Het
Lrch4 T A 5: 137,635,818 (GRCm39) D266E probably benign Het
Lrrc28 C T 7: 67,209,677 (GRCm39) R174H probably damaging Het
Mib1 T A 18: 10,798,474 (GRCm39) D778E probably damaging Het
Msra T C 14: 64,360,775 (GRCm39) I125V possibly damaging Het
Or10c1 A G 17: 37,522,244 (GRCm39) F167L probably damaging Het
Or4k37 T A 2: 111,158,964 (GRCm39) S67T probably damaging Het
Or4p19 A T 2: 88,242,555 (GRCm39) V149E possibly damaging Het
Or52e18 A G 7: 104,609,747 (GRCm39) F64S probably damaging Het
Or6c75 C A 10: 129,337,491 (GRCm39) T246N probably damaging Het
Or8d23 A G 9: 38,841,955 (GRCm39) M163V possibly damaging Het
Pes1 T A 11: 3,926,824 (GRCm39) Y369N probably damaging Het
Pgam2 T C 11: 5,751,773 (GRCm39) D221G possibly damaging Het
Prl2c5 T C 13: 13,365,265 (GRCm39) V137A possibly damaging Het
Rasal1 T A 5: 120,814,914 (GRCm39) D721E possibly damaging Het
Sass6 G T 3: 116,412,381 (GRCm39) E385D possibly damaging Het
Sema5a A G 15: 32,460,418 (GRCm39) R60G probably benign Het
Sesn1 T C 10: 41,779,762 (GRCm39) S399P probably damaging Het
Skic2 G A 17: 35,067,398 (GRCm39) L47F probably damaging Het
Slc10a2 C T 8: 5,141,755 (GRCm39) V210M probably damaging Het
Slc8a3 C T 12: 81,362,331 (GRCm39) G163S probably damaging Het
Sorbs2 T C 8: 46,212,234 (GRCm39) probably benign Het
Speer4f1 T C 5: 17,684,490 (GRCm39) W173R probably damaging Het
Spon2 C A 5: 33,374,108 (GRCm39) G92W probably damaging Het
Sycp2 A T 2: 178,037,009 (GRCm39) probably benign Het
Tfb1m A G 17: 3,605,241 (GRCm39) V84A probably damaging Het
Tmem18 G T 12: 30,637,198 (GRCm39) probably null Het
Tom1l1 A G 11: 90,547,210 (GRCm39) L290S possibly damaging Het
Tube1 T G 10: 39,021,711 (GRCm39) probably null Het
Ugt2b35 T A 5: 87,155,156 (GRCm39) probably null Het
Unc93b1 T A 19: 3,992,403 (GRCm39) Y269N probably benign Het
Usp16 T C 16: 87,259,030 (GRCm39) probably null Het
Vmn1r38 A T 6: 66,753,370 (GRCm39) S249T probably benign Het
Vmn1r42 T A 6: 89,821,733 (GRCm39) M279L possibly damaging Het
Zdhhc23 T A 16: 43,791,829 (GRCm39) T315S possibly damaging Het
Zfp472 T C 17: 33,194,900 (GRCm39) F12L probably benign Het
Zfr2 T C 10: 81,083,225 (GRCm39) S634P 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
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
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'- TCTCATCACAGTGCTTGGCATACAG -3'
(R):5'- ACAAACCCTTATGAAGGAGCCGAAG -3'

Sequencing Primer
(F):5'- GCTGAACTCAATGACAAGTATTACC -3'
(R):5'- AGCCGAAGTGTTGCTTCC -3'
Posted On 2014-04-13