Incidental Mutation 'R4076:Rrbp1'
ID 316550
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 040975-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R4076 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 143789315-143853183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 143805030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 1045 (Q1045P)
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: Q1045P

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: Q1045P

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 0.0617 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 T A 7: 119,297,981 (GRCm39) L206H probably benign Het
Adam34l A T 8: 44,079,387 (GRCm39) F279Y probably damaging Het
Anxa5 T C 3: 36,504,529 (GRCm39) I277V probably benign Het
Atg12 A G 18: 46,870,491 (GRCm39) F92L probably benign Het
Cd48 T A 1: 171,523,451 (GRCm39) V98D probably damaging Het
Dnah11 A G 12: 118,009,413 (GRCm39) M2083T probably benign Het
Dnah9 T C 11: 65,975,730 (GRCm39) T1440A probably benign Het
Dnali1 T C 4: 124,953,263 (GRCm39) D188G probably damaging Het
Dst A G 1: 34,231,350 (GRCm39) E2656G probably benign Het
Eps15l1 A G 8: 73,134,128 (GRCm39) I482T probably damaging Het
Ercc4 G A 16: 12,948,549 (GRCm39) V499I probably damaging Het
Eva1c T A 16: 90,701,019 (GRCm39) F331Y probably damaging Het
Fcho1 T C 8: 72,163,013 (GRCm39) H672R probably damaging Het
Fras1 G C 5: 96,891,017 (GRCm39) D2849H probably damaging Het
Hdc C T 2: 126,458,181 (GRCm39) R47Q possibly damaging Het
Ighv1-30 C T 12: 114,781,021 (GRCm39) noncoding transcript Het
Krtap31-1 T C 11: 99,799,058 (GRCm39) I87T possibly damaging Het
Lamp3 A G 16: 19,519,466 (GRCm39) L239P possibly damaging Het
Ltb4r2 A T 14: 56,000,398 (GRCm39) R340W probably benign Het
Map10 T C 8: 126,398,584 (GRCm39) V659A probably benign Het
Nars2 T A 7: 96,607,301 (GRCm39) S91T probably damaging Het
Nlrp4c A G 7: 6,075,709 (GRCm39) K667E probably benign Het
Obox3 G T 7: 15,359,724 (GRCm39) T315N possibly damaging Het
Or52e18 A T 7: 104,609,923 (GRCm39) N5K probably damaging Het
Or5b3 G A 19: 13,388,299 (GRCm39) R122H possibly damaging Het
Osgin1 A C 8: 120,171,772 (GRCm39) S189R possibly damaging Het
Pidd1 A G 7: 141,020,739 (GRCm39) F453L probably damaging Het
Pik3c2g A T 6: 139,798,589 (GRCm39) N373I probably damaging Het
Pou2f2 T C 7: 24,796,713 (GRCm39) T270A probably damaging Het
Rad51b T G 12: 79,361,656 (GRCm39) S122R probably damaging Het
Rev1 T G 1: 38,093,319 (GRCm39) K1075T possibly damaging Het
Scg2 A C 1: 79,414,574 (GRCm39) F50V probably damaging Het
Slco1a5 A T 6: 142,213,950 (GRCm39) I57K possibly damaging Het
Tfb1m T A 17: 3,571,945 (GRCm39) R257W probably damaging Het
Tm2d3 T A 7: 65,347,498 (GRCm39) L49* probably null Het
Usp31 A G 7: 121,267,005 (GRCm39) probably null Het
Zbtb11 C T 16: 55,818,427 (GRCm39) T617I possibly damaging Het
Zfp608 A T 18: 55,031,180 (GRCm39) V920E 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
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'- ATGCAAAGCTCTTAGGGGTC -3'
(R):5'- ACTCACAGCTCACAGAGAGG -3'

Sequencing Primer
(F):5'- CAAAGCTCTTAGGGGTCAGTTTTG -3'
(R):5'- AGCTCACAGAGAGGATCCGTTC -3'
Posted On 2015-05-15