Incidental Mutation 'R2109:Gp2'
ID 232372
Institutional Source Beutler Lab
Gene Symbol Gp2
Ensembl Gene ENSMUSG00000030954
Gene Name glycoprotein 2 zymogen granule membrane
Synonyms 2310037I18Rik
MMRRC Submission 040113-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2109 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 119041760-119058495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119052155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 186 (N186K)
Ref Sequence ENSEMBL: ENSMUSP00000146487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033255] [ENSMUST00000207887]
AlphaFold Q9D733
Predicted Effect probably benign
Transcript: ENSMUST00000033255
AA Change: N186K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033255
Gene: ENSMUSG00000030954
AA Change: N186K

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: N186K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik G T 7: 43,900,435 (GRCm39) R113S probably benign Het
Ackr2 A T 9: 121,738,026 (GRCm39) I134F probably damaging Het
Actr3b T A 5: 26,036,709 (GRCm39) I174N possibly damaging Het
Akap9 T A 5: 4,094,847 (GRCm39) S2214T possibly damaging Het
Arhgef12 C A 9: 42,890,768 (GRCm39) R986L possibly damaging Het
Brap G T 5: 121,801,422 (GRCm39) S59I possibly damaging Het
Btnl1 C T 17: 34,598,578 (GRCm39) H65Y probably damaging Het
C1s2 T C 6: 124,612,004 (GRCm39) T121A probably damaging Het
Capn1 T A 19: 6,064,388 (GRCm39) Y37F probably benign Het
Ccdc39 T C 3: 33,869,650 (GRCm39) K726E probably damaging Het
Cd300lb G A 11: 114,816,865 (GRCm39) S195F probably damaging Het
Cenpf T C 1: 189,411,264 (GRCm39) K307E probably damaging Het
Chodl A C 16: 78,738,251 (GRCm39) N73T possibly damaging Het
Cimip2c G A 5: 30,637,851 (GRCm39) G66E probably damaging Het
Crnn A T 3: 93,055,747 (GRCm39) M178L probably benign Het
Cyp4a12b A G 4: 115,290,110 (GRCm39) D221G probably damaging Het
Dipk2a A T 9: 94,406,498 (GRCm39) I303N probably damaging Het
Dmxl2 A G 9: 54,301,097 (GRCm39) V2338A probably benign Het
Dnah9 G T 11: 65,928,411 (GRCm39) P2086Q probably damaging Het
Dsg2 A G 18: 20,725,346 (GRCm39) I486V probably benign Het
E2f8 A G 7: 48,524,855 (GRCm39) S265P probably damaging Het
Eif1b A G 9: 120,323,296 (GRCm39) D52G probably benign Het
Etl4 A T 2: 20,790,153 (GRCm39) T602S probably benign Het
Exoc3l2 A T 7: 19,223,059 (GRCm39) probably benign Het
Fbxl6 C A 15: 76,421,173 (GRCm39) V297F probably damaging Het
Fgr T A 4: 132,725,786 (GRCm39) N398K probably benign Het
G3bp1 A G 11: 55,379,986 (GRCm39) R107G probably damaging Het
Hbs1l T A 10: 21,217,831 (GRCm39) L249* probably null Het
Hmgcs2 T A 3: 98,204,337 (GRCm39) L246* probably null Het
Hsp90ab1 G T 17: 45,880,254 (GRCm39) H96Q probably benign Het
Ibtk C T 9: 85,588,603 (GRCm39) V1078I probably benign Het
Ltn1 T C 16: 87,212,530 (GRCm39) D677G probably benign Het
Lyst C T 13: 13,887,405 (GRCm39) T3078I possibly damaging Het
Mamdc4 A G 2: 25,459,402 (GRCm39) F199S probably damaging Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mki67 G A 7: 135,299,592 (GRCm39) T1814I probably damaging Het
Msantd5l T A 11: 51,145,264 (GRCm39) I108F possibly damaging Het
Mttp A T 3: 137,800,763 (GRCm39) F766I probably benign Het
Nbl1 T A 4: 138,810,915 (GRCm39) probably null Het
Nmrk1 T A 19: 18,618,802 (GRCm39) L118Q probably damaging Het
Nopchap1 C T 10: 83,201,656 (GRCm39) S143L probably damaging Het
Oog3 A T 4: 143,886,082 (GRCm39) L172H probably damaging Het
Or2y11 T G 11: 49,443,260 (GRCm39) S229A probably damaging Het
Osbpl1a T G 18: 12,892,457 (GRCm39) Q332P probably damaging Het
Pik3cg A G 12: 32,243,709 (GRCm39) F921L possibly damaging Het
Plch2 T C 4: 155,069,054 (GRCm39) S1086G possibly damaging Het
Plekha5 A G 6: 140,369,942 (GRCm39) T18A possibly damaging Het
Pogz T A 3: 94,786,276 (GRCm39) S955T probably benign Het
Pot1b A T 17: 55,960,413 (GRCm39) I639N probably benign Het
Prkdc T C 16: 15,505,254 (GRCm39) I852T probably benign Het
Prps1l1 A G 12: 35,035,521 (GRCm39) K212R probably benign Het
Ptpn5 A G 7: 46,735,807 (GRCm39) Y304H probably damaging Het
Ralgapa1 A G 12: 55,822,973 (GRCm39) I281T possibly damaging Het
Rgs22 A T 15: 36,099,880 (GRCm39) Y278* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf213 T A 11: 119,333,489 (GRCm39) Y2899* probably null Het
Rttn C T 18: 89,004,197 (GRCm39) T397I possibly damaging Het
Sacs G T 14: 61,410,902 (GRCm39) probably null Het
Sbf2 G T 7: 110,060,419 (GRCm39) Q182K probably damaging Het
Sec14l5 C T 16: 4,984,968 (GRCm39) R105* probably null Het
Sh2b1 A T 7: 126,071,536 (GRCm39) D216E possibly damaging Het
Sh3gl3 A G 7: 81,920,008 (GRCm39) N72S possibly damaging Het
Slc12a1 A T 2: 125,015,619 (GRCm39) I391F probably damaging Het
Slc36a2 G A 11: 55,072,381 (GRCm39) A77V probably damaging Het
Smc2 A T 4: 52,474,987 (GRCm39) I888L probably benign Het
Smoc1 C T 12: 81,197,450 (GRCm39) T194M probably damaging Het
Sorcs1 C T 19: 50,666,630 (GRCm39) G93R probably benign Het
Sox30 T G 11: 45,882,595 (GRCm39) F542V probably damaging Het
Svep1 A G 4: 58,206,030 (GRCm39) V116A possibly damaging Het
Synj2 A G 17: 6,063,966 (GRCm39) D330G probably benign Het
Tenm3 A C 8: 48,796,384 (GRCm39) S202A possibly damaging Het
Tg C T 15: 66,601,443 (GRCm39) T151I probably benign Het
Tnfaip2 A G 12: 111,414,527 (GRCm39) E361G probably damaging Het
Tnk1 A T 11: 69,746,009 (GRCm39) D305E probably damaging Het
Tpp1 A G 7: 105,399,177 (GRCm39) L133P probably damaging Het
Trappc1 T A 11: 69,215,243 (GRCm39) M41K probably damaging Het
Tsen54 A G 11: 115,706,549 (GRCm39) D9G probably damaging Het
Ttn T A 2: 76,804,598 (GRCm39) I225F probably damaging Het
Ube4b T C 4: 149,457,298 (GRCm39) K313R probably benign Het
Vps50 T C 6: 3,555,379 (GRCm39) V425A probably damaging Het
Wbp2 A T 11: 115,971,445 (GRCm39) Y153* probably null Het
Xrn1 A G 9: 95,861,273 (GRCm39) S478G probably benign Het
Zfp354c T C 11: 50,707,969 (GRCm39) E77G probably benign Het
Zfp462 T C 4: 55,008,496 (GRCm39) M154T probably benign Het
Zfp704 A G 3: 9,539,585 (GRCm39) V255A probably damaging Het
Zfp763 G T 17: 33,238,752 (GRCm39) A131E probably benign Het
Zfp931 A T 2: 177,711,651 (GRCm39) V32E probably null 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
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'- AACTCTCAAGATTTCCCAATGTCC -3'
(R):5'- GCTTGCCTGGCAGTTTTCAG -3'

Sequencing Primer
(F):5'- CAAGATTTCCCAATGTCCATTCTATG -3'
(R):5'- GCAGTTTTCAGGGCTGTTACTCC -3'
Posted On 2014-09-18