Incidental Mutation 'R5459:2300002M23Rik'
ID 432947
Institutional Source Beutler Lab
Gene Symbol 2300002M23Rik
Ensembl Gene ENSMUSG00000039269
Gene Name RIKEN cDNA 2300002M23 gene
Synonyms emprin
MMRRC Submission 043022-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5459 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 35878382-35879842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35879079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 139 (E139G)
Ref Sequence ENSEMBL: ENSMUSP00000038043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044326]
AlphaFold Q8BM15
Predicted Effect possibly damaging
Transcript: ENSMUST00000044326
AA Change: E139G

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038043
Gene: ENSMUSG00000039269
AA Change: E139G

signal peptide 1 26 N/A INTRINSIC
Pfam:STG 34 260 4.8e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174246
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Female homozygous null mice exhibit reduced body weight and total body fat. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,631,607 (GRCm39) N1223S probably benign Het
Adamts3 A T 5: 89,839,332 (GRCm39) probably null Het
Aloxe3 T A 11: 69,023,654 (GRCm39) F259Y possibly damaging Het
Armc9 G A 1: 86,135,694 (GRCm39) R550Q probably damaging Het
Ctnnd2 A G 15: 30,887,334 (GRCm39) D787G probably damaging Het
Dnah7b A G 1: 46,148,472 (GRCm39) I283V probably null Het
Ebf2 A G 14: 67,472,650 (GRCm39) M23V probably benign Het
Fbxw11 T C 11: 32,689,191 (GRCm39) V438A possibly damaging Het
Fcrla G A 1: 170,745,738 (GRCm39) T348M possibly damaging Het
Gpr179 A T 11: 97,227,483 (GRCm39) H1557Q probably benign Het
Gpr87 A G 3: 59,087,148 (GRCm39) V119A possibly damaging Het
Grep1 C T 17: 23,930,817 (GRCm39) probably benign Het
Hfm1 A G 5: 107,052,629 (GRCm39) S285P probably damaging Het
Hs3st5 T C 10: 36,704,742 (GRCm39) V15A possibly damaging Het
Hyal5 C T 6: 24,891,250 (GRCm39) H355Y probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Map4k3 T A 17: 80,917,216 (GRCm39) N587Y probably damaging Het
Mcm3ap T A 10: 76,332,316 (GRCm39) L1211* probably null Het
Mcmdc2 A G 1: 10,007,309 (GRCm39) I620V probably benign Het
Mical2 C T 7: 111,981,444 (GRCm39) H539Y probably benign Het
Myo9a T C 9: 59,791,803 (GRCm39) L1802P probably damaging Het
Neto2 T A 8: 86,397,112 (GRCm39) I47F probably benign Het
Oog3 G A 4: 143,885,815 (GRCm39) T261I probably benign Het
Or5b95 A G 19: 12,657,799 (GRCm39) E109G probably damaging Het
Pdilt A G 7: 119,086,158 (GRCm39) L519P probably benign Het
Pnpla6 A T 8: 3,585,829 (GRCm39) M844L probably benign Het
Polk C T 13: 96,631,984 (GRCm39) G250R probably damaging Het
Rasal2 A G 1: 156,985,231 (GRCm39) S839P probably damaging Het
Siae T C 9: 37,528,119 (GRCm39) Y31H probably damaging Het
Slc27a2 T C 2: 126,422,912 (GRCm39) V379A probably damaging Het
Snx9 C T 17: 5,970,913 (GRCm39) T418M probably damaging Het
Spata31e2 A C 1: 26,724,272 (GRCm39) S303A probably damaging Het
Srp72 A G 5: 77,132,185 (GRCm39) T258A probably benign Het
Tango6 T A 8: 107,576,921 (GRCm39) D1058E probably damaging Het
Tecpr1 T A 5: 144,144,234 (GRCm39) Y656F probably damaging Het
Tnik T A 3: 28,715,890 (GRCm39) I1168K probably damaging Het
Togaram1 A G 12: 65,014,510 (GRCm39) E587G probably damaging Het
Tyw1 A C 5: 130,303,547 (GRCm39) D305A probably damaging Het
Vmn1r19 T A 6: 57,381,475 (GRCm39) Y9* probably null Het
Zkscan3 A T 13: 21,578,982 (GRCm39) V142E probably damaging Het
Other mutations in 2300002M23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01527:2300002M23Rik APN 17 35,878,730 (GRCm39) critical splice acceptor site probably null
IGL02604:2300002M23Rik APN 17 35,878,845 (GRCm39) missense probably benign 0.01
R1154:2300002M23Rik UTSW 17 35,879,673 (GRCm39) missense probably damaging 1.00
R2184:2300002M23Rik UTSW 17 35,879,115 (GRCm39) missense probably benign
R2406:2300002M23Rik UTSW 17 35,879,352 (GRCm39) missense probably damaging 0.96
R3824:2300002M23Rik UTSW 17 35,878,508 (GRCm39) missense probably benign
R4739:2300002M23Rik UTSW 17 35,878,403 (GRCm39) utr 5 prime probably benign
R4936:2300002M23Rik UTSW 17 35,879,212 (GRCm39) missense possibly damaging 0.92
R5318:2300002M23Rik UTSW 17 35,878,883 (GRCm39) missense possibly damaging 0.95
R6453:2300002M23Rik UTSW 17 35,879,109 (GRCm39) missense possibly damaging 0.71
R6761:2300002M23Rik UTSW 17 35,878,845 (GRCm39) missense probably benign 0.01
R7847:2300002M23Rik UTSW 17 35,879,549 (GRCm39) missense probably benign
R9406:2300002M23Rik UTSW 17 35,879,487 (GRCm39) missense possibly damaging 0.96
RF010:2300002M23Rik UTSW 17 35,879,473 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-06