Incidental Mutation 'R2850:Rrbp1'
ID 252046
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 040443-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R2850 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 143789315-143853183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 143791269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 1378 (R1378Q)
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: R1378Q

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: R1378Q

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: ENSMUST00000135367
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140511
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154649
Meta Mutation Damage Score 0.0626 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T A 13: 12,290,065 (GRCm39) T734S probably damaging Het
Ago1 T C 4: 126,336,868 (GRCm39) probably benign Het
Ahi1 C T 10: 20,876,492 (GRCm39) T801I probably benign Het
Alms1 T C 6: 85,598,281 (GRCm39) S1505P probably benign Het
Alms1 C A 6: 85,644,945 (GRCm39) probably benign Het
Anxa6 T A 11: 54,901,852 (GRCm39) Y95F possibly damaging Het
Cacna1b C T 2: 24,651,800 (GRCm39) M126I probably damaging Het
Clk1 A G 1: 58,451,438 (GRCm39) L457S probably damaging Het
Cngb3 T C 4: 19,415,690 (GRCm39) I400T possibly damaging Het
Cntnap5c T A 17: 58,717,343 (GRCm39) probably benign Het
Corin A G 5: 72,462,298 (GRCm39) V837A probably damaging Het
Ctr9 C T 7: 110,652,653 (GRCm39) R984C unknown Het
Cubn G A 2: 13,327,764 (GRCm39) T2687I probably damaging Het
Cypt3 T A X: 152,342,274 (GRCm39) N168K probably damaging Het
E330020D12Rik A G 1: 153,282,336 (GRCm39) noncoding transcript Het
Fbxl4 T C 4: 22,403,624 (GRCm39) M399T probably benign Het
Fbxo22 T C 9: 55,130,699 (GRCm39) F323L probably damaging Het
Fnip1 A T 11: 54,393,503 (GRCm39) E646D probably benign Het
Gid4 G A 11: 60,329,400 (GRCm39) probably null Het
Gnb5 A T 9: 75,234,511 (GRCm39) D70V probably damaging Het
Gpank1 A G 17: 35,343,557 (GRCm39) S346G probably benign Het
Gtf3c6 T C 10: 40,130,254 (GRCm39) probably benign Het
Hdx T C X: 110,502,720 (GRCm39) I562V probably benign Het
Ifrd2 T C 9: 107,468,908 (GRCm39) probably benign Het
Itch A C 2: 155,044,141 (GRCm39) Q482P probably benign Het
Kif11 C A 19: 37,397,941 (GRCm39) D630E probably benign Het
Lpl G T 8: 69,352,164 (GRCm39) E372* probably null Het
Mrps26 T C 2: 130,406,967 (GRCm39) V198A probably benign Het
Mucl1 T C 15: 103,782,348 (GRCm39) N201S possibly damaging Het
Nedd4 C T 9: 72,632,356 (GRCm39) L397F possibly damaging Het
Nfat5 A G 8: 108,020,492 (GRCm39) D12G probably damaging Het
Or5b102 T C 19: 13,040,934 (GRCm39) L53P probably damaging Het
Pik3r3 A G 4: 116,127,981 (GRCm39) probably benign Het
Pkd1l3 T A 8: 110,350,622 (GRCm39) V489E possibly damaging Het
Pkhd1 T C 1: 20,579,300 (GRCm39) E1802G possibly damaging Het
Plb1 T A 5: 32,450,568 (GRCm39) S370T probably benign Het
Ppat G A 5: 77,067,222 (GRCm39) T337I probably benign Het
Prkd3 A G 17: 79,262,025 (GRCm39) V763A possibly damaging Het
Prr9 A T 3: 92,030,476 (GRCm39) S55T probably benign Het
Rbpms G T 8: 34,324,405 (GRCm39) N108K possibly damaging Het
Rc3h2 A T 2: 37,267,427 (GRCm39) D972E probably benign Het
Slc26a7 T A 4: 14,593,806 (GRCm39) probably benign Het
Stard6 T A 18: 70,616,522 (GRCm39) H60Q probably benign Het
Sult6b2 T C 6: 142,743,613 (GRCm39) T138A probably benign Het
Th G A 7: 142,447,812 (GRCm39) Q329* probably null Het
Tmco3 A G 8: 13,345,024 (GRCm39) H268R probably benign Het
Tnn T C 1: 159,966,857 (GRCm39) D429G probably benign Het
Tnrc6a G A 7: 122,779,023 (GRCm39) G1245R probably damaging Het
Trem3 C A 17: 48,556,669 (GRCm39) L47M probably benign Het
Trpm6 T A 19: 18,769,454 (GRCm39) C307S possibly damaging Het
Ube2j1 T A 4: 33,049,696 (GRCm39) N231K probably benign Het
Urb1 A G 16: 90,571,144 (GRCm39) Y1222H probably benign Het
Wdr81 A T 11: 75,341,998 (GRCm39) S1090T probably damaging Het
Ythdf3 T C 3: 16,257,982 (GRCm39) probably benign Het
Zfp280d A G 9: 72,219,371 (GRCm39) T183A probably benign Het
Zfp354c G A 11: 50,706,158 (GRCm39) Q306* probably null Het
Zp2 T C 7: 119,737,529 (GRCm39) H252R 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
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
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'- GCCAATACCTGAGCTGTTCC -3'
(R):5'- AGTGGGTTATCTCCAAGCTTC -3'

Sequencing Primer
(F):5'- CCATGGATCAGGATGTAGCTCTCAG -3'
(R):5'- CTTGCCCATGTGAATCAATATGAGC -3'
Posted On 2014-12-04