Incidental Mutation 'R4279:Rrbp1'
ID 322790
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 041079-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R4279 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 143789315-143853183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143805028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1046 (T1046A)
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: T1046A

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: T1046A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136068
Meta Mutation Damage Score 0.0603 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 T A 15: 96,269,637 (GRCm39) L1250Q probably damaging Het
Ccdc73 A T 2: 104,815,355 (GRCm39) N364Y possibly damaging Het
Ccl25 T A 8: 4,399,829 (GRCm39) L56Q probably damaging Het
Ctnnd2 C A 15: 30,905,966 (GRCm39) A871E probably damaging Het
Cyp2b23 C T 7: 26,365,452 (GRCm39) S461N possibly damaging Het
Dgat2 C A 7: 98,813,912 (GRCm39) G120V probably damaging Het
Dsp A T 13: 38,369,207 (GRCm39) I768F probably damaging Het
Dzank1 T C 2: 144,333,765 (GRCm39) E356G probably benign Het
Fam120a A T 13: 49,042,734 (GRCm39) V889D probably benign Het
Fxyd5 C A 7: 30,734,811 (GRCm39) D139Y probably null Het
Gcnt2 T C 13: 41,041,666 (GRCm39) V275A probably benign Het
Gimap4 A G 6: 48,667,511 (GRCm39) I89V probably benign Het
Gm6578 G A 6: 12,100,187 (GRCm39) noncoding transcript Het
Jmjd8 A G 17: 26,048,787 (GRCm39) probably benign Het
Jmy G C 13: 93,635,390 (GRCm39) P142R probably damaging Het
Jmy C A 13: 93,635,781 (GRCm39) D12Y probably damaging Het
Kif13b G T 14: 65,016,805 (GRCm39) A1324S probably damaging Het
Klhl31 T C 9: 77,563,121 (GRCm39) S629P unknown Het
Lpar1 A G 4: 58,487,115 (GRCm39) V52A possibly damaging Het
Lrp5 A G 19: 3,641,778 (GRCm39) S1395P possibly damaging Het
Mogs T C 6: 83,093,048 (GRCm39) L132P probably damaging Het
Ncam1 C A 9: 49,418,259 (GRCm39) probably benign Het
Ndufs8 A T 19: 3,961,014 (GRCm39) F88I probably damaging Het
Nos2 T A 11: 78,820,602 (GRCm39) L69Q probably benign Het
Or51a6 T A 7: 102,604,292 (GRCm39) Q179L probably benign Het
Pls3 A T X: 74,846,138 (GRCm39) I192N probably benign Het
Psmd6 T C 14: 14,112,297 (GRCm38) N388S possibly damaging Het
Scn11a T C 9: 119,583,428 (GRCm39) E1729G probably benign Het
Slc6a3 A G 13: 73,692,953 (GRCm39) D191G possibly damaging Het
Slc9a1 T C 4: 133,139,400 (GRCm39) F206S probably benign Het
Tmc5 A G 7: 118,273,886 (GRCm39) *968W probably null Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Unc13a T C 8: 72,119,311 (GRCm39) K9R probably damaging Het
Vegfa A G 17: 46,342,392 (GRCm39) V142A probably benign Het
Vmn1r119 T A 7: 20,745,786 (GRCm39) M199L probably benign Het
Vnn1 A T 10: 23,774,410 (GRCm39) D151V possibly damaging Het
Zfp365 A T 10: 67,733,431 (GRCm39) F254I probably benign 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
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
R8306:Rrbp1 UTSW 2 143,792,416 (GRCm39) missense probably benign 0.02
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'- GCAAAGCTCTTAGGGGTCAG -3'
(R):5'- GAACTCACAGCTCACAGAGAGG -3'

Sequencing Primer
(F):5'- CAAAGCTCTTAGGGGTCAGTTTTG -3'
(R):5'- AGCTCACAGAGAGGATCCGTTC -3'
Posted On 2015-06-20