Incidental Mutation 'R8469:Rrbp1'
ID 656941
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 067913-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R8469 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 143789315-143853183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143831661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 169 (I169V)
Ref Sequence ENSEMBL: ENSMUSP00000040560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016072] [ENSMUST00000037875]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000016072
AA Change: I169V

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: I169V

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 probably damaging
Transcript: ENSMUST00000037875
AA Change: I169V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040560
Gene: ENSMUSG00000027422
AA Change: I169V

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
Pfam:Rib_recp_KP_reg 33 173 2.8e-47 PFAM
low complexity region 197 215 N/A INTRINSIC
Blast:KISc 470 652 3e-13 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik A G 16: 90,852,797 (GRCm39) F113S probably damaging Het
Abcd4 A G 12: 84,659,190 (GRCm39) Y189H probably damaging Het
Actn1 T C 12: 80,240,457 (GRCm39) D210G possibly damaging Het
Adam28 C T 14: 68,844,029 (GRCm39) V774I probably benign Het
Anapc1 A T 2: 128,500,264 (GRCm39) probably null Het
Atg2b A T 12: 105,604,170 (GRCm39) I1577N probably benign Het
Bod1l A G 5: 41,978,834 (GRCm39) S827P possibly damaging Het
Carmil1 A T 13: 24,296,011 (GRCm39) C377S probably damaging Het
Cplx4 T C 18: 66,090,083 (GRCm39) E112G possibly damaging Het
Cyp4f39 C A 17: 32,711,340 (GRCm39) R496S probably damaging Het
Dmgdh G A 13: 93,843,175 (GRCm39) R337Q probably damaging Het
Dnah10 T C 5: 124,813,895 (GRCm39) F345S probably damaging Het
Dst A G 1: 34,268,109 (GRCm39) R2844G probably damaging Het
Fam186a T A 15: 99,845,186 (GRCm39) I353L unknown Het
Fam78a A G 2: 31,959,345 (GRCm39) V255A possibly damaging Het
Ino80 T A 2: 119,210,074 (GRCm39) I1406L probably benign Het
Itga11 T C 9: 62,678,680 (GRCm39) F949S probably benign Het
Jmjd7 G A 2: 119,860,643 (GRCm39) A57T possibly damaging Het
Krt1c T C 15: 101,724,804 (GRCm39) T269A probably benign Het
Lgi4 A T 7: 30,767,065 (GRCm39) D364V probably damaging Het
Lrp12 T C 15: 39,735,791 (GRCm39) T733A probably damaging Het
Marchf7 T A 2: 60,064,670 (GRCm39) N315K probably benign Het
Methig1 A G 15: 100,251,130 (GRCm39) I14V probably benign Het
Mtmr3 A T 11: 4,481,223 (GRCm39) M1K probably null Het
Nras A G 3: 102,966,217 (GRCm39) probably benign Het
Nsd1 A G 13: 55,425,366 (GRCm39) T1508A possibly damaging Het
Obscn T C 11: 59,019,063 (GRCm39) T917A probably damaging Het
Pard6g T C 18: 80,090,347 (GRCm39) V21A possibly damaging Het
Pcdha5 T A 18: 37,094,798 (GRCm39) W436R probably benign Het
Pde4d T C 13: 108,996,722 (GRCm39) V8A probably benign Het
Pou4f3 C T 18: 42,528,339 (GRCm39) T94M probably benign Het
Prdm6 G T 18: 53,597,758 (GRCm39) probably benign Het
Ralgapa1 T C 12: 55,786,198 (GRCm39) R674G probably damaging Het
Rcc1 A G 4: 132,061,445 (GRCm39) S368P probably damaging Het
Rcn2 T A 9: 55,952,485 (GRCm39) V110E probably benign Het
Reep4 T A 14: 70,783,180 (GRCm39) probably null Het
Slc2a6 T C 2: 26,914,347 (GRCm39) S257G probably benign Het
Spag9 A G 11: 93,982,627 (GRCm39) R612G probably damaging Het
Ssh2 A G 11: 77,340,434 (GRCm39) T529A probably benign Het
Triobp A G 15: 78,851,219 (GRCm39) S458G probably benign Het
Zfp729a G T 13: 67,769,481 (GRCm39) H249Q probably damaging Het
Zfp940 A G 7: 29,544,572 (GRCm39) I445T possibly 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
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
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'- TTAGCTTGGTTCTGAGCCCC -3'
(R):5'- AGTCCATTCTTCTGTGGGCC -3'

Sequencing Primer
(F):5'- TAGCCTGGTTCTGGGCTCC -3'
(R):5'- ATTCTTCTGTGGGCCATACC -3'
Posted On 2021-01-18