Incidental Mutation 'R2975:Rrp1b'
ID 255357
Institutional Source Beutler Lab
Gene Symbol Rrp1b
Ensembl Gene ENSMUSG00000058392
Gene Name ribosomal RNA processing 1B
Synonyms 2600005C20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2975 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 32255087-32281839 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32277547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 609 (V609E)
Ref Sequence ENSEMBL: ENSMUSP00000080085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081339] [ENSMUST00000150469]
AlphaFold Q91YK2
Predicted Effect probably damaging
Transcript: ENSMUST00000081339
AA Change: V609E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080085
Gene: ENSMUSG00000058392
AA Change: V609E

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: ENSMUST00000150187
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150469
SMART Domains Protein: ENSMUSP00000117400
Gene: ENSMUSG00000058392

DomainStartEndE-ValueType
low complexity region 96 107 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 T C 2: 22,847,099 (GRCm39) N251D probably damaging Het
Cdca3 A T 6: 124,807,616 (GRCm39) probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fut8 T C 12: 77,411,787 (GRCm39) V83A probably benign Het
Gnb1l T C 16: 18,383,016 (GRCm39) S352P probably damaging Het
Hmgxb3 A T 18: 61,296,038 (GRCm39) Y323* probably null Het
Katna1 A T 10: 7,619,473 (GRCm39) K160N probably benign Het
Kif7 C A 7: 79,360,008 (GRCm39) A410S probably damaging Het
Mrpl43 T C 19: 44,994,498 (GRCm39) probably null Het
Muc6 T A 7: 141,216,951 (GRCm39) E2574V possibly damaging Het
Naip6 A G 13: 100,424,695 (GRCm39) V1199A probably damaging Het
Ntn4 A G 10: 93,480,753 (GRCm39) Y122C probably damaging Het
Pon3 A G 6: 5,232,345 (GRCm39) I225T probably damaging Het
Scube1 T C 15: 83,543,299 (GRCm39) T180A probably damaging Het
Tas2r136 C A 6: 132,754,972 (GRCm39) V52L probably damaging Het
Tas2r138 A G 6: 40,590,198 (GRCm39) I16T probably benign Het
Traf3ip2 A C 10: 39,502,536 (GRCm39) Q228P probably benign Het
Vmn2r54 A G 7: 12,369,919 (GRCm39) M48T possibly damaging Het
Washc5 T C 15: 59,217,207 (GRCm39) N787D probably damaging Het
Zbed6 T C 1: 133,585,975 (GRCm39) Y454C probably damaging Het
Other mutations in Rrp1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Rrp1b APN 17 32,271,793 (GRCm39) missense probably benign 0.09
IGL01383:Rrp1b APN 17 32,277,552 (GRCm39) missense probably damaging 0.99
IGL02740:Rrp1b APN 17 32,278,305 (GRCm39) missense probably damaging 1.00
IGL03030:Rrp1b APN 17 32,275,875 (GRCm39) missense probably damaging 1.00
IGL03181:Rrp1b APN 17 32,276,150 (GRCm39) missense probably benign 0.13
IGL03396:Rrp1b APN 17 32,276,237 (GRCm39) splice site probably benign
IGL02980:Rrp1b UTSW 17 32,269,013 (GRCm39) missense possibly damaging 0.49
R0138:Rrp1b UTSW 17 32,279,426 (GRCm39) missense probably benign 0.24
R0394:Rrp1b UTSW 17 32,277,538 (GRCm39) missense probably benign 0.34
R0681:Rrp1b UTSW 17 32,279,369 (GRCm39) missense probably damaging 1.00
R1315:Rrp1b UTSW 17 32,275,613 (GRCm39) missense probably benign 0.00
R1351:Rrp1b UTSW 17 32,275,611 (GRCm39) missense possibly damaging 0.82
R1700:Rrp1b UTSW 17 32,276,178 (GRCm39) missense probably benign 0.19
R1815:Rrp1b UTSW 17 32,275,785 (GRCm39) missense probably benign
R1940:Rrp1b UTSW 17 32,275,819 (GRCm39) missense possibly damaging 0.95
R2176:Rrp1b UTSW 17 32,275,534 (GRCm39) missense probably benign 0.00
R2352:Rrp1b UTSW 17 32,278,302 (GRCm39) missense possibly damaging 0.71
R4552:Rrp1b UTSW 17 32,274,984 (GRCm39) splice site probably benign
R5114:Rrp1b UTSW 17 32,255,445 (GRCm39) utr 5 prime probably benign
R5242:Rrp1b UTSW 17 32,270,677 (GRCm39) missense possibly damaging 0.82
R5647:Rrp1b UTSW 17 32,274,985 (GRCm39) splice site probably benign
R5739:Rrp1b UTSW 17 32,264,950 (GRCm39) missense probably damaging 1.00
R5853:Rrp1b UTSW 17 32,275,658 (GRCm39) missense possibly damaging 0.49
R5878:Rrp1b UTSW 17 32,266,649 (GRCm39) missense probably damaging 1.00
R6389:Rrp1b UTSW 17 32,275,601 (GRCm39) missense possibly damaging 0.55
R6734:Rrp1b UTSW 17 32,274,278 (GRCm39) intron probably benign
R6742:Rrp1b UTSW 17 32,275,908 (GRCm39) missense probably benign
R6759:Rrp1b UTSW 17 32,276,063 (GRCm39) missense probably benign 0.01
R6855:Rrp1b UTSW 17 32,271,719 (GRCm39) missense probably benign 0.00
R7014:Rrp1b UTSW 17 32,268,401 (GRCm39) missense probably damaging 1.00
R7315:Rrp1b UTSW 17 32,277,545 (GRCm39) missense probably benign 0.03
R7689:Rrp1b UTSW 17 32,274,900 (GRCm39) missense probably benign 0.38
R7834:Rrp1b UTSW 17 32,270,698 (GRCm39) missense probably benign 0.00
R7993:Rrp1b UTSW 17 32,277,541 (GRCm39) missense probably damaging 0.98
R8272:Rrp1b UTSW 17 32,276,163 (GRCm39) missense probably benign
R8371:Rrp1b UTSW 17 32,268,458 (GRCm39) missense possibly damaging 0.66
R8885:Rrp1b UTSW 17 32,270,688 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- TGCAGAAGTGAGGTCTGTGC -3'
(R):5'- TCTCTCACCAGGTAGAATGGAG -3'

Sequencing Primer
(F):5'- TTCCTGACAGAGCTGGTGCAAG -3'
(R):5'- TCACCAGGTAGAATGGAGCACTTG -3'
Posted On 2014-12-29