Incidental Mutation 'R2176:Rrp1b'
ID 236909
Institutional Source Beutler Lab
Gene Symbol Rrp1b
Ensembl Gene ENSMUSG00000058392
Gene Name ribosomal RNA processing 1 homolog B (S. cerevisiae)
Synonyms
MMRRC Submission 040178-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2176 (G1)
Quality Score 189
Status Validated
Chromosome 17
Chromosomal Location 32036100-32062865 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 32056560 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 360 (D360E)
Ref Sequence ENSEMBL: ENSMUSP00000080085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081339] [ENSMUST00000150469]
AlphaFold Q91YK2
Predicted Effect probably benign
Transcript: ENSMUST00000081339
AA Change: D360E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000080085
Gene: ENSMUSG00000058392
AA Change: D360E

DomainStartEndE-ValueType
Pfam:Nop52 10 218 3.3e-73 PFAM
low complexity region 344 352 N/A INTRINSIC
low complexity region 376 384 N/A INTRINSIC
low complexity region 450 463 N/A INTRINSIC
low complexity region 483 496 N/A INTRINSIC
low complexity region 694 706 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126602
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150187
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150469
SMART Domains Protein: ENSMUSP00000117400
Gene: ENSMUSG00000058392

DomainStartEndE-ValueType
low complexity region 96 107 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik A G 9: 103,259,367 (GRCm38) probably benign Het
Adam1a T A 5: 121,519,586 (GRCm38) Y548F probably benign Het
Armc9 T C 1: 86,199,892 (GRCm38) L83P probably damaging Het
BC051665 A T 13: 60,784,530 (GRCm38) probably benign Het
Casp3 A G 8: 46,629,756 (GRCm38) N3S probably damaging Het
Ccdc174 G A 6: 91,888,089 (GRCm38) M109I probably benign Het
Ccr6 T A 17: 8,256,241 (GRCm38) F93I probably damaging Het
Clvs2 T C 10: 33,595,815 (GRCm38) S165G probably damaging Het
Cntnap5c T C 17: 58,013,946 (GRCm38) V171A probably benign Het
Dennd5a C A 7: 109,905,120 (GRCm38) probably null Het
Dock2 T A 11: 34,695,217 (GRCm38) Y546F probably benign Het
Fat2 A G 11: 55,267,575 (GRCm38) probably null Het
Focad T A 4: 88,279,244 (GRCm38) Y625N unknown Het
Fyb A G 15: 6,579,954 (GRCm38) K3E probably damaging Het
Gm14496 G A 2: 181,991,337 (GRCm38) D38N probably benign Het
Gm20403 T C 12: 54,986,370 (GRCm38) T54A probably benign Het
Gm9830 A G 9: 44,464,259 (GRCm38) noncoding transcript Het
Hectd1 A T 12: 51,745,494 (GRCm38) S2487R probably damaging Het
Il5ra A G 6: 106,738,272 (GRCm38) L175S probably benign Het
Itgav C T 2: 83,803,255 (GRCm38) R983C probably damaging Het
Kcna10 T C 3: 107,194,716 (GRCm38) V221A probably damaging Het
Kif13b G A 14: 64,669,671 (GRCm38) V35I probably benign Het
Kif6 G A 17: 49,755,230 (GRCm38) E473K probably damaging Het
Mfsd14a T C 3: 116,632,393 (GRCm38) T452A probably benign Het
Mllt1 A G 17: 56,897,398 (GRCm38) S382P probably benign Het
Myo15b T C 11: 115,866,572 (GRCm38) W1083R probably damaging Het
Nell2 T C 15: 95,435,157 (GRCm38) I174V probably damaging Het
Noct G A 3: 51,249,696 (GRCm38) probably null Het
Nvl A T 1: 181,135,074 (GRCm38) probably benign Het
Ofcc1 T C 13: 40,097,119 (GRCm38) S574G probably benign Het
Olfr1248 A T 2: 89,617,580 (GRCm38) M204K possibly damaging Het
Olfr512 G A 7: 108,714,132 (GRCm38) V248I probably damaging Het
Olfr749 T C 14: 50,736,224 (GRCm38) M313V probably benign Het
Pip5k1a A T 3: 95,065,496 (GRCm38) S415T probably damaging Het
Pkhd1 G A 1: 20,553,517 (GRCm38) P785S probably damaging Het
Plcg2 A G 8: 117,612,994 (GRCm38) Y1048C probably damaging Het
Ppp3cb A T 14: 20,520,652 (GRCm38) V337E probably benign Het
Prkg2 T C 5: 98,966,509 (GRCm38) probably benign Het
Prl7a2 T G 13: 27,659,106 (GRCm38) Y238S probably benign Het
Psg28 T A 7: 18,427,879 (GRCm38) D233V probably damaging Het
Rad50 A G 11: 53,698,209 (GRCm38) C221R probably benign Het
Rgl3 A G 9: 21,975,958 (GRCm38) probably benign Het
Rgsl1 T A 1: 153,825,268 (GRCm38) probably benign Het
Ror1 C A 4: 100,441,874 (GRCm38) R815S probably damaging Het
Ryr3 T C 2: 112,666,335 (GRCm38) Q3682R possibly damaging Het
Sdr42e1 A T 8: 117,662,877 (GRCm38) F342I possibly damaging Het
Setd5 A G 6: 113,151,153 (GRCm38) R1337G probably benign Het
Siglecf T C 7: 43,351,716 (GRCm38) V36A probably damaging Het
Slc4a5 G A 6: 83,262,560 (GRCm38) G152D probably damaging Het
Sptbn4 T G 7: 27,364,162 (GRCm38) M2280L probably benign Het
Syngr2 T C 11: 117,812,580 (GRCm38) I74T probably damaging Het
Tm9sf1 T C 14: 55,641,409 (GRCm38) I175M possibly damaging Het
Tmc3 A G 7: 83,609,308 (GRCm38) E502G probably damaging Het
Tph1 T A 7: 46,662,039 (GRCm38) D88V possibly damaging Het
Tpr A G 1: 150,419,940 (GRCm38) K979E possibly damaging Het
Usp47 A G 7: 112,092,727 (GRCm38) T799A probably benign Het
Utf1 A G 7: 139,944,007 (GRCm38) E45G possibly damaging Het
Vmn1r208 A T 13: 22,772,602 (GRCm38) C242S probably damaging Het
Wrnip1 T C 13: 32,820,240 (GRCm38) I498T probably damaging Het
Ypel2 T A 11: 86,971,873 (GRCm38) H18L probably benign Het
Zan T G 5: 137,421,848 (GRCm38) D2849A unknown Het
Zfp647 A T 15: 76,911,660 (GRCm38) F267I probably damaging Het
Zfp786 G T 6: 47,820,971 (GRCm38) H344Q possibly damaging Het
Zswim3 G T 2: 164,820,694 (GRCm38) A365S probably benign Het
Zswim5 T C 4: 116,973,041 (GRCm38) W538R probably damaging Het
Other mutations in Rrp1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Rrp1b APN 17 32,052,819 (GRCm38) missense probably benign 0.09
IGL01383:Rrp1b APN 17 32,058,578 (GRCm38) missense probably damaging 0.99
IGL02740:Rrp1b APN 17 32,059,331 (GRCm38) missense probably damaging 1.00
IGL03030:Rrp1b APN 17 32,056,901 (GRCm38) missense probably damaging 1.00
IGL03181:Rrp1b APN 17 32,057,176 (GRCm38) missense probably benign 0.13
IGL03396:Rrp1b APN 17 32,057,263 (GRCm38) splice site probably benign
IGL02980:Rrp1b UTSW 17 32,050,039 (GRCm38) missense possibly damaging 0.49
R0138:Rrp1b UTSW 17 32,060,452 (GRCm38) missense probably benign 0.24
R0394:Rrp1b UTSW 17 32,058,564 (GRCm38) missense probably benign 0.34
R0681:Rrp1b UTSW 17 32,060,395 (GRCm38) missense probably damaging 1.00
R1315:Rrp1b UTSW 17 32,056,639 (GRCm38) missense probably benign 0.00
R1351:Rrp1b UTSW 17 32,056,637 (GRCm38) missense possibly damaging 0.82
R1700:Rrp1b UTSW 17 32,057,204 (GRCm38) missense probably benign 0.19
R1815:Rrp1b UTSW 17 32,056,811 (GRCm38) missense probably benign
R1940:Rrp1b UTSW 17 32,056,845 (GRCm38) missense possibly damaging 0.95
R2352:Rrp1b UTSW 17 32,059,328 (GRCm38) missense possibly damaging 0.71
R2975:Rrp1b UTSW 17 32,058,573 (GRCm38) missense probably damaging 1.00
R4552:Rrp1b UTSW 17 32,056,010 (GRCm38) splice site probably benign
R5114:Rrp1b UTSW 17 32,036,471 (GRCm38) utr 5 prime probably benign
R5242:Rrp1b UTSW 17 32,051,703 (GRCm38) missense possibly damaging 0.82
R5647:Rrp1b UTSW 17 32,056,011 (GRCm38) splice site probably benign
R5739:Rrp1b UTSW 17 32,045,976 (GRCm38) missense probably damaging 1.00
R5853:Rrp1b UTSW 17 32,056,684 (GRCm38) missense possibly damaging 0.49
R5878:Rrp1b UTSW 17 32,047,675 (GRCm38) missense probably damaging 1.00
R6389:Rrp1b UTSW 17 32,056,627 (GRCm38) missense possibly damaging 0.55
R6734:Rrp1b UTSW 17 32,055,304 (GRCm38) intron probably benign
R6742:Rrp1b UTSW 17 32,056,934 (GRCm38) missense probably benign
R6759:Rrp1b UTSW 17 32,057,089 (GRCm38) missense probably benign 0.01
R6855:Rrp1b UTSW 17 32,052,745 (GRCm38) missense probably benign 0.00
R7014:Rrp1b UTSW 17 32,049,427 (GRCm38) missense probably damaging 1.00
R7315:Rrp1b UTSW 17 32,058,571 (GRCm38) missense probably benign 0.03
R7689:Rrp1b UTSW 17 32,055,926 (GRCm38) missense probably benign 0.38
R7834:Rrp1b UTSW 17 32,051,724 (GRCm38) missense probably benign 0.00
R7993:Rrp1b UTSW 17 32,058,567 (GRCm38) missense probably damaging 0.98
R8272:Rrp1b UTSW 17 32,057,189 (GRCm38) missense probably benign
R8371:Rrp1b UTSW 17 32,049,484 (GRCm38) missense possibly damaging 0.66
R8885:Rrp1b UTSW 17 32,051,714 (GRCm38) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- AGACCCTGTCTCTAGAGGAGTG -3'
(R):5'- TGCTGTAGGCTCAGTCACAC -3'

Sequencing Primer
(F):5'- GATGCTGTGCACCTGTATTCCTG -3'
(R):5'- TAGGCTCAGTCACACACGCTTG -3'
Posted On 2014-10-02