Incidental Mutation 'R8306:Rrbp1'
ID 641048
Institutional Source Beutler Lab
Gene Symbol Rrbp1
Ensembl Gene ENSMUSG00000027422
Gene Name ribosome binding protein 1
Synonyms mRRp1.8, mRRp0, mRRp5.4, mRRp47, 1700087N07Rik, mRRp10, mRRp16.8, ES/130, p180, mRRp41, mRRp2, mRRp15b, 5730465C04Rik, mRRp15a
MMRRC Submission 067792-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R8306 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 143789315-143853183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143792416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 1321 (S1321G)
Ref Sequence ENSEMBL: ENSMUSP00000016072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016072]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000016072
AA Change: S1321G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: S1321G

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
Pfam:Rib_recp_KP_reg 33 171 2.3e-40 PFAM
low complexity region 197 215 N/A INTRINSIC
internal_repeat_2 218 373 2.94e-114 PROSPERO
internal_repeat_1 219 406 7.79e-148 PROSPERO
internal_repeat_1 410 618 7.79e-148 PROSPERO
internal_repeat_2 449 692 2.94e-114 PROSPERO
coiled coil region 757 1126 N/A INTRINSIC
coiled coil region 1167 1321 N/A INTRINSIC
coiled coil region 1342 1455 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 C A 11: 101,302,194 (GRCm39) V158F probably damaging Het
Abtb3 T A 10: 85,434,409 (GRCm39) C22* probably null Het
Adam1b T C 5: 121,641,212 (GRCm39) probably benign Het
Ambn G A 5: 88,607,281 (GRCm39) E50K possibly damaging Het
Ash1l A G 3: 88,873,259 (GRCm39) D14G probably benign Het
Asphd1 C T 7: 126,547,784 (GRCm39) R173H probably damaging Het
Atr A T 9: 95,802,423 (GRCm39) T1772S Het
Best3 T C 10: 116,838,515 (GRCm39) L191P probably damaging Het
Bola1 A T 3: 96,104,517 (GRCm39) S26T probably benign Het
Borcs6 T C 11: 68,950,646 (GRCm39) L8P probably benign Het
Brca1 T G 11: 101,416,463 (GRCm39) Q557P probably damaging Het
Brca2 G A 5: 150,460,128 (GRCm39) E468K possibly damaging Het
Capza2 T A 6: 17,637,131 (GRCm39) L4Q probably benign Het
Cc2d2b T A 19: 40,804,228 (GRCm39) Y918* probably null Het
Ccdc163 T C 4: 116,567,472 (GRCm39) L67P probably damaging Het
Ccdc172 C A 19: 58,525,022 (GRCm39) Q160K probably damaging Het
Ccp110 T A 7: 118,321,903 (GRCm39) D519E probably benign Het
Cd300ld2 T C 11: 114,904,648 (GRCm39) Q73R probably benign Het
Cfap46 T A 7: 139,236,496 (GRCm39) D608V Het
Cfap69 T G 5: 5,654,287 (GRCm39) Y549S probably benign Het
Cilp G A 9: 65,186,286 (GRCm39) G794S probably damaging Het
Clu A C 14: 66,217,211 (GRCm39) Q348P probably damaging Het
Cnot1 A T 8: 96,473,649 (GRCm39) N1153K probably benign Het
Col2a1 T C 15: 97,888,849 (GRCm39) probably null Het
Col6a6 A T 9: 105,661,272 (GRCm39) I279N probably damaging Het
Dop1a A G 9: 86,402,259 (GRCm39) D1153G possibly damaging Het
Dpyd A G 3: 119,205,822 (GRCm39) K888E probably benign Het
Eif2ak4 T C 2: 118,287,656 (GRCm39) I1208T possibly damaging Het
Epha1 T C 6: 42,335,722 (GRCm39) I972V probably damaging Het
Fam13c C T 10: 70,388,983 (GRCm39) T503I probably benign Het
Fbxo43 T A 15: 36,162,013 (GRCm39) Q398L probably benign Het
Fbxo44 A G 4: 148,243,089 (GRCm39) I57T probably benign Het
Flnc T C 6: 29,449,369 (GRCm39) I1422T probably benign Het
Flrt2 T C 12: 95,746,076 (GRCm39) L138P probably damaging Het
Frem3 A G 8: 81,338,840 (GRCm39) K378E possibly damaging Het
Ganc T A 2: 120,252,560 (GRCm39) D128E probably benign Het
Gm19965 T C 1: 116,749,515 (GRCm39) S399P Het
H2-Q1 A T 17: 35,539,997 (GRCm39) K89* probably null Het
H2-Q2 A T 17: 35,561,301 (GRCm39) probably benign Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Homer2 T A 7: 81,274,014 (GRCm39) S125C possibly damaging Het
Hormad2 T C 11: 4,358,714 (GRCm39) K231R probably benign Het
Kif17 A C 4: 138,005,220 (GRCm39) K262Q probably damaging Het
Kif20a G A 18: 34,761,444 (GRCm39) S279N probably benign Het
Lrp12 T C 15: 39,741,450 (GRCm39) N441D probably damaging Het
Lta4h G T 10: 93,318,126 (GRCm39) L515F possibly damaging Het
Mavs T C 2: 131,088,470 (GRCm39) S425P probably benign Het
Mcat A C 15: 83,439,592 (GRCm39) D99E probably damaging Het
Nav2 C A 7: 49,195,765 (GRCm39) T1047K probably benign Het
Neb T A 2: 52,099,657 (GRCm39) Y4731F probably damaging Het
Nectin4 G C 1: 171,211,325 (GRCm39) R283P probably null Het
Notch3 G A 17: 32,377,086 (GRCm39) T273I probably damaging Het
Or4c11c G A 2: 88,661,633 (GRCm39) M57I possibly damaging Het
Or5i1 A T 2: 87,613,830 (GRCm39) *317C probably null Het
Or6b2b T G 1: 92,419,247 (GRCm39) I77L possibly damaging Het
Or6z7 T A 7: 6,483,868 (GRCm39) I96F possibly damaging Het
Pcdha12 A T 18: 37,155,638 (GRCm39) T786S probably benign Het
Pde9a A G 17: 31,692,186 (GRCm39) K520E probably benign Het
Piezo2 A C 18: 63,208,801 (GRCm39) L1404R probably damaging Het
Rtkn T C 6: 83,128,897 (GRCm39) V464A probably damaging Het
Rtn4rl1 T C 11: 75,156,147 (GRCm39) F193S probably damaging Het
Samd4 G A 14: 47,122,374 (GRCm39) V33I probably damaging Het
Scn5a A G 9: 119,350,357 (GRCm39) L839P probably damaging Het
Slc6a17 C A 3: 107,380,985 (GRCm39) V507L probably benign Het
Stradb C A 1: 59,030,356 (GRCm39) N203K unknown Het
Tenm2 T C 11: 35,960,196 (GRCm39) T1044A possibly damaging Het
Tmem245 A C 4: 56,886,037 (GRCm39) W860G probably damaging Het
Tpst2 G A 5: 112,455,803 (GRCm39) R114H probably damaging Het
Trappc10 C T 10: 78,036,460 (GRCm39) D920N possibly damaging Het
Vmn1r59 T A 7: 5,456,966 (GRCm39) I265L probably benign Het
Zbtb20 A C 16: 43,439,100 (GRCm39) D667A probably damaging Het
Zbtb4 T A 11: 69,668,309 (GRCm39) I344N probably damaging Het
Zdbf2 T A 1: 63,343,234 (GRCm39) C538S possibly damaging Het
Zmym6 A T 4: 127,016,355 (GRCm39) H712L probably damaging Het
Other mutations in Rrbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01330:Rrbp1 APN 2 143,810,538 (GRCm39) missense possibly damaging 0.93
IGL01636:Rrbp1 APN 2 143,789,815 (GRCm39) unclassified probably benign
IGL01923:Rrbp1 APN 2 143,832,081 (GRCm39) missense probably damaging 1.00
IGL02513:Rrbp1 APN 2 143,830,350 (GRCm39) missense possibly damaging 0.55
IGL02548:Rrbp1 APN 2 143,791,679 (GRCm39) splice site probably benign
IGL02678:Rrbp1 APN 2 143,832,107 (GRCm39) missense probably damaging 0.98
FR4449:Rrbp1 UTSW 2 143,809,376 (GRCm39) frame shift probably null
PIT4378001:Rrbp1 UTSW 2 143,816,460 (GRCm39) missense probably benign 0.00
R0127:Rrbp1 UTSW 2 143,831,864 (GRCm39) missense probably benign 0.21
R0611:Rrbp1 UTSW 2 143,830,436 (GRCm39) missense probably damaging 1.00
R0881:Rrbp1 UTSW 2 143,795,173 (GRCm39) missense probably benign 0.09
R1439:Rrbp1 UTSW 2 143,797,032 (GRCm39) critical splice donor site probably null
R1534:Rrbp1 UTSW 2 143,830,233 (GRCm39) missense probably damaging 1.00
R1604:Rrbp1 UTSW 2 143,831,310 (GRCm39) missense probably damaging 0.99
R1920:Rrbp1 UTSW 2 143,830,211 (GRCm39) missense probably benign 0.16
R1921:Rrbp1 UTSW 2 143,830,211 (GRCm39) missense probably benign 0.16
R2152:Rrbp1 UTSW 2 143,796,118 (GRCm39) missense possibly damaging 0.75
R2153:Rrbp1 UTSW 2 143,796,118 (GRCm39) missense possibly damaging 0.75
R2319:Rrbp1 UTSW 2 143,799,479 (GRCm39) missense probably benign 0.01
R2850:Rrbp1 UTSW 2 143,791,269 (GRCm39) missense probably benign 0.09
R2864:Rrbp1 UTSW 2 143,799,557 (GRCm39) missense probably damaging 0.99
R3433:Rrbp1 UTSW 2 143,794,200 (GRCm39) splice site probably benign
R3707:Rrbp1 UTSW 2 143,795,197 (GRCm39) missense probably benign 0.01
R3837:Rrbp1 UTSW 2 143,831,478 (GRCm39) missense probably damaging 1.00
R4073:Rrbp1 UTSW 2 143,805,030 (GRCm39) missense probably benign 0.16
R4074:Rrbp1 UTSW 2 143,805,030 (GRCm39) missense probably benign 0.16
R4076:Rrbp1 UTSW 2 143,805,030 (GRCm39) missense probably benign 0.16
R4279:Rrbp1 UTSW 2 143,805,028 (GRCm39) missense probably benign 0.16
R4583:Rrbp1 UTSW 2 143,830,671 (GRCm39) missense probably benign 0.03
R4820:Rrbp1 UTSW 2 143,806,685 (GRCm39) missense possibly damaging 0.78
R4829:Rrbp1 UTSW 2 143,831,607 (GRCm39) missense probably benign 0.18
R4836:Rrbp1 UTSW 2 143,830,337 (GRCm39) missense possibly damaging 0.75
R5589:Rrbp1 UTSW 2 143,831,886 (GRCm39) missense probably benign 0.16
R5801:Rrbp1 UTSW 2 143,831,703 (GRCm39) missense probably damaging 1.00
R5806:Rrbp1 UTSW 2 143,805,251 (GRCm39) missense probably benign 0.16
R5955:Rrbp1 UTSW 2 143,791,597 (GRCm39) missense probably benign 0.06
R6102:Rrbp1 UTSW 2 143,830,313 (GRCm39) missense probably damaging 1.00
R6368:Rrbp1 UTSW 2 143,831,475 (GRCm39) missense probably damaging 1.00
R6916:Rrbp1 UTSW 2 143,816,518 (GRCm39) missense probably benign 0.03
R7022:Rrbp1 UTSW 2 143,799,722 (GRCm39) splice site probably null
R7061:Rrbp1 UTSW 2 143,831,087 (GRCm39) missense possibly damaging 0.61
R7136:Rrbp1 UTSW 2 143,791,600 (GRCm39) missense probably benign 0.16
R7291:Rrbp1 UTSW 2 143,811,382 (GRCm39) missense probably benign 0.09
R7361:Rrbp1 UTSW 2 143,809,364 (GRCm39) missense probably benign 0.01
R7816:Rrbp1 UTSW 2 143,830,855 (GRCm39) missense probably damaging 1.00
R7877:Rrbp1 UTSW 2 143,789,815 (GRCm39) unclassified probably benign
R7968:Rrbp1 UTSW 2 143,832,081 (GRCm39) missense probably damaging 1.00
R8022:Rrbp1 UTSW 2 143,798,712 (GRCm39) missense probably benign 0.42
R8439:Rrbp1 UTSW 2 143,797,053 (GRCm39) missense probably benign 0.23
R8469:Rrbp1 UTSW 2 143,831,661 (GRCm39) missense probably damaging 0.98
R8485:Rrbp1 UTSW 2 143,796,933 (GRCm39) missense probably benign 0.09
R8526:Rrbp1 UTSW 2 143,816,403 (GRCm39) missense probably benign 0.33
R8534:Rrbp1 UTSW 2 143,830,095 (GRCm39) missense probably damaging 1.00
R8556:Rrbp1 UTSW 2 143,831,045 (GRCm39) missense possibly damaging 0.84
R8735:Rrbp1 UTSW 2 143,830,920 (GRCm39) nonsense probably null
R9258:Rrbp1 UTSW 2 143,853,161 (GRCm39) start gained probably benign
R9326:Rrbp1 UTSW 2 143,806,744 (GRCm39) missense probably damaging 0.99
R9419:Rrbp1 UTSW 2 143,811,436 (GRCm39) missense probably benign 0.09
R9585:Rrbp1 UTSW 2 143,799,479 (GRCm39) missense probably benign 0.01
R9660:Rrbp1 UTSW 2 143,831,178 (GRCm39) missense probably damaging 1.00
R9694:Rrbp1 UTSW 2 143,832,099 (GRCm39) missense probably damaging 1.00
Z1088:Rrbp1 UTSW 2 143,816,406 (GRCm39) missense probably damaging 1.00
Z1177:Rrbp1 UTSW 2 143,811,415 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTAGCAGTGGGGACTGAAGTAC -3'
(R):5'- TTACTCTTCCTATGTCTCTGAGGAG -3'

Sequencing Primer
(F):5'- GGACTGAAGTACCTGCACTCAG -3'
(R):5'- ATGTCTCTGAGGAGTCTCTCTC -3'
Posted On 2020-07-28