Incidental Mutation 'R4734:Prb1c'
ID 359149
Institutional Source Beutler Lab
Gene Symbol Prb1c
Ensembl Gene ENSMUSG00000030143
Gene Name proline-rich protein BstNI subfamily 1C
Synonyms Gm8882
MMRRC Submission 041961-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R4734 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 132361041-132364134 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 132361928 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 109 (N109I)
Ref Sequence ENSEMBL: ENSMUSP00000079660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080849]
AlphaFold E9Q7E4
Predicted Effect unknown
Transcript: ENSMUST00000080849
AA Change: N109I
SMART Domains Protein: ENSMUSP00000079660
Gene: ENSMUSG00000030143
AA Change: N109I

Pfam:Pro-rich 1 118 2.2e-32 PFAM
Pfam:Pro-rich 155 228 6.3e-14 PFAM
Pfam:Pro-rich 211 277 5.8e-10 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,470,904 (GRCm38) M1V probably null Het
Abcb11 T A 2: 69,323,962 (GRCm38) T87S possibly damaging Het
Arap3 A G 18: 37,996,275 (GRCm38) V210A probably benign Het
Avl9 T C 6: 56,736,494 (GRCm38) S246P probably damaging Het
Ccdc88a A G 11: 29,482,720 (GRCm38) K222R probably benign Het
Cdhr18 T C 14: 13,845,292 (GRCm38) N540S probably benign Het
Cfap96 A T 8: 45,970,417 (GRCm38) M86K possibly damaging Het
Chsy3 C A 18: 59,179,413 (GRCm38) F319L probably benign Het
Coro2b T C 9: 62,426,578 (GRCm38) T345A probably benign Het
Cpb1 A G 3: 20,263,712 (GRCm38) V216A probably benign Het
Cyp2c65 A G 19: 39,072,334 (GRCm38) I213V probably benign Het
Dcaf15 A G 8: 84,097,728 (GRCm38) C586R probably benign Het
Ddr2 T A 1: 169,998,088 (GRCm38) E314D probably benign Het
Dennd5a C T 7: 109,896,336 (GRCm38) R1196H probably damaging Het
Dnah9 G A 11: 65,834,115 (GRCm38) A4404V probably damaging Het
Dpf2 A G 19: 5,906,999 (GRCm38) probably null Het
Eif2ak4 A T 2: 118,422,087 (GRCm38) H302L probably damaging Het
Eif2d G T 1: 131,165,152 (GRCm38) R399L probably damaging Het
Fat2 A G 11: 55,311,468 (GRCm38) V260A probably benign Het
Fhod3 T A 18: 25,028,135 (GRCm38) Y575N probably benign Het
Fscb T C 12: 64,474,470 (GRCm38) E74G possibly damaging Het
Gdpd2 G A X: 100,734,193 (GRCm38) M243I possibly damaging Het
Glra1 C A 11: 55,536,384 (GRCm38) D42Y probably damaging Het
Gnl2 T C 4: 125,041,018 (GRCm38) F156L probably benign Het
Gpr37 C A 6: 25,689,086 (GRCm38) R4L possibly damaging Het
Hectd4 A T 5: 121,341,977 (GRCm38) H2892L possibly damaging Het
Helb T C 10: 120,084,849 (GRCm38) D1063G probably benign Het
Htr2c A G X: 147,193,797 (GRCm38) T163A probably benign Het
Impact T A 18: 12,985,289 (GRCm38) H188Q probably damaging Het
Kirrel1 C T 3: 87,089,151 (GRCm38) M380I probably null Het
Lnx2 C T 5: 147,029,137 (GRCm38) G391R probably damaging Het
Lrrc19 T C 4: 94,638,349 (GRCm38) I324V probably benign Het
Lrrcc1 G T 3: 14,562,285 (GRCm38) Q458H probably damaging Het
Maml3 A T 3: 51,689,875 (GRCm38) D483E probably damaging Het
Mef2c T A 13: 83,662,629 (GRCm38) *467R probably null Het
Mms19 T A 19: 41,944,558 (GRCm38) S1031C probably damaging Het
Myt1l T C 12: 29,919,926 (GRCm38) I143T possibly damaging Het
Nuggc T C 14: 65,623,230 (GRCm38) Y426H probably damaging Het
Oit3 A T 10: 59,424,082 (GRCm38) C500S probably damaging Het
Oog2 T C 4: 144,196,451 (GRCm38) S429P probably benign Het
Or4d1 T A 11: 87,914,190 (GRCm38) T239S probably damaging Het
Or51f1 A G 7: 102,856,979 (GRCm38) I101T probably damaging Het
Or5p1 A T 7: 108,317,752 (GRCm38) N286I probably damaging Het
Or5p51 T C 7: 107,845,428 (GRCm38) I102V probably benign Het
Pcnt T C 10: 76,437,206 (GRCm38) D93G probably benign Het
Pdia5 A T 16: 35,456,513 (GRCm38) M95K probably benign Het
Pdzrn4 A T 15: 92,770,252 (GRCm38) R762* probably null Het
Piezo1 G T 8: 122,498,206 (GRCm38) Q654K probably damaging Het
Ppil3 A G 1: 58,431,269 (GRCm38) Y141H probably benign Het
Rassf8 G T 6: 145,815,540 (GRCm38) K197N probably benign Het
Ryr2 T C 13: 11,737,753 (GRCm38) Q1894R probably damaging Het
Ryr3 T A 2: 112,910,502 (GRCm38) N487Y probably damaging Het
Scn5a T C 9: 119,539,538 (GRCm38) Y307C probably damaging Het
Sdad1 C T 5: 92,304,977 (GRCm38) R134Q possibly damaging Het
Shroom1 C T 11: 53,465,233 (GRCm38) S370F probably damaging Het
Slc29a3 A G 10: 60,716,326 (GRCm38) V313A probably benign Het
Slc2a9 C A 5: 38,382,099 (GRCm38) G353C probably damaging Het
Snx33 T A 9: 56,925,901 (GRCm38) T295S possibly damaging Het
Spata31d1b G A 13: 59,718,358 (GRCm38) V1107M probably damaging Het
Supt6 T C 11: 78,224,683 (GRCm38) D761G probably benign Het
Tfeb T C 17: 47,785,862 (GRCm38) V18A probably benign Het
Thap12 G T 7: 98,715,954 (GRCm38) C443F probably damaging Het
Thap12 T A 7: 98,715,955 (GRCm38) C443* probably null Het
Tmem67 T C 4: 12,063,158 (GRCm38) D496G probably benign Het
Trappc8 G A 18: 20,841,572 (GRCm38) R900* probably null Het
Trim9 T C 12: 70,248,273 (GRCm38) N688D probably damaging Het
Trmt1l A T 1: 151,442,637 (GRCm38) I80L probably benign Het
Trpm5 C A 7: 143,082,785 (GRCm38) V472L probably benign Het
Tspear C T 10: 77,864,695 (GRCm38) L120F probably damaging Het
Ttc9b G A 7: 27,656,018 (GRCm38) V238M probably benign Het
Usp20 A G 2: 31,019,824 (GRCm38) I819V probably benign Het
Vmn2r102 T A 17: 19,677,533 (GRCm38) V270E probably damaging Het
Vmn2r63 C T 7: 42,928,120 (GRCm38) M331I probably benign Het
Zc3h18 A T 8: 122,383,643 (GRCm38) D77V probably damaging Het
Zdhhc1 CGGGGG CGGGGGG 8: 105,483,744 (GRCm38) probably null Het
Other mutations in Prb1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02797:Prb1c APN 6 132,363,045 (GRCm38) critical splice acceptor site probably null
IGL02961:Prb1c APN 6 132,361,408 (GRCm38) missense unknown
R0334:Prb1c UTSW 6 132,364,058 (GRCm38) missense unknown
R1167:Prb1c UTSW 6 132,361,590 (GRCm38) missense unknown
R1635:Prb1c UTSW 6 132,363,006 (GRCm38) critical splice donor site probably null
R3956:Prb1c UTSW 6 132,361,851 (GRCm38) missense unknown
R5275:Prb1c UTSW 6 132,361,877 (GRCm38) missense unknown
R5295:Prb1c UTSW 6 132,361,877 (GRCm38) missense unknown
R5506:Prb1c UTSW 6 132,361,856 (GRCm38) missense unknown
R5580:Prb1c UTSW 6 132,361,469 (GRCm38) missense unknown
R5975:Prb1c UTSW 6 132,362,073 (GRCm38) missense unknown
R6503:Prb1c UTSW 6 132,361,692 (GRCm38) nonsense probably null
R8110:Prb1c UTSW 6 132,361,568 (GRCm38) missense unknown
R8714:Prb1c UTSW 6 132,364,088 (GRCm38) missense unknown
R8931:Prb1c UTSW 6 132,361,934 (GRCm38) missense
R9054:Prb1c UTSW 6 132,361,893 (GRCm38) missense unknown
R9526:Prb1c UTSW 6 132,361,928 (GRCm38) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-11-11