Incidental Mutation 'R3930:Rrp36'
ID 308451
Institutional Source Beutler Lab
Gene Symbol Rrp36
Ensembl Gene ENSMUSG00000023971
Gene Name ribosomal RNA processing 36
Synonyms BC011248
MMRRC Submission 040917-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R3930 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 46977249-46985252 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 46983732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 27 (Q27K)
Ref Sequence ENSEMBL: ENSMUSP00000024766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024766] [ENSMUST00000071841] [ENSMUST00000165007]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000024766
AA Change: Q27K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024766
Gene: ENSMUSG00000023971
AA Change: Q27K

DomainStartEndE-ValueType
Pfam:DUF947 55 219 7.6e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071841
SMART Domains Protein: ENSMUSP00000071743
Gene: ENSMUSG00000063576

DomainStartEndE-ValueType
Pfam:Kelch_1 13 63 1.6e-8 PFAM
Pfam:Kelch_2 13 63 2.2e-9 PFAM
Pfam:Kelch_4 13 65 3.8e-8 PFAM
Pfam:Kelch_6 13 67 9.6e-11 PFAM
Pfam:Kelch_5 73 113 3.1e-8 PFAM
Pfam:Kelch_1 76 117 1.9e-7 PFAM
Pfam:Kelch_6 76 121 1.7e-9 PFAM
Pfam:Kelch_2 77 121 2.1e-8 PFAM
Pfam:Kelch_4 77 125 4.6e-11 PFAM
Pfam:Kelch_3 86 136 1.3e-12 PFAM
Pfam:Kelch_1 127 172 1.5e-10 PFAM
Pfam:Kelch_6 127 173 2e-10 PFAM
Pfam:Kelch_2 127 174 4.7e-14 PFAM
Pfam:Kelch_4 127 177 1.3e-10 PFAM
Pfam:Kelch_2 179 231 2.4e-8 PFAM
Pfam:Kelch_1 180 233 5.8e-9 PFAM
Pfam:Kelch_3 189 247 7.3e-8 PFAM
Pfam:Kelch_5 235 276 1.2e-11 PFAM
Pfam:Kelch_1 238 284 2.7e-8 PFAM
Pfam:Kelch_6 238 293 2.4e-12 PFAM
Pfam:Kelch_3 248 299 4.2e-10 PFAM
low complexity region 322 333 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165007
SMART Domains Protein: ENSMUSP00000128271
Gene: ENSMUSG00000063576

DomainStartEndE-ValueType
Pfam:Kelch_1 13 63 9.9e-10 PFAM
Pfam:Kelch_2 13 63 2.2e-9 PFAM
Pfam:Kelch_6 13 66 7.5e-11 PFAM
Pfam:Kelch_4 13 71 1.4e-8 PFAM
Pfam:Kelch_5 73 113 3e-8 PFAM
Pfam:Kelch_1 76 118 2.6e-8 PFAM
Pfam:Kelch_6 76 121 1.1e-10 PFAM
Pfam:Kelch_4 76 126 2e-11 PFAM
Pfam:Kelch_2 77 121 2.1e-8 PFAM
Pfam:Kelch_3 86 136 7.7e-12 PFAM
Pfam:Kelch_1 127 170 1.2e-8 PFAM
Pfam:Kelch_2 127 174 4.7e-14 PFAM
Pfam:Kelch_4 127 177 1.7e-7 PFAM
Pfam:Kelch_2 179 231 2.4e-8 PFAM
Pfam:Kelch_6 179 239 2.5e-9 PFAM
Pfam:Kelch_1 180 232 3.4e-8 PFAM
Pfam:Kelch_3 189 247 5.7e-8 PFAM
Pfam:Kelch_5 235 276 4.3e-10 PFAM
Pfam:Kelch_1 238 285 9.3e-10 PFAM
Pfam:Kelch_4 238 291 9.9e-8 PFAM
Pfam:Kelch_6 238 293 2.5e-12 PFAM
Pfam:Kelch_3 248 299 1.1e-9 PFAM
low complexity region 322 333 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181301
Meta Mutation Damage Score 0.0784 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RRP36 functions at an early stage in the processing of 35S preribosomal RNA into the mature 18S species (Gerus et al., 2010 [PubMed 20038530]).[supplied by OMIM, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 C T 4: 144,396,698 (GRCm39) E345K probably damaging Het
Bpifb1 A G 2: 154,057,242 (GRCm39) N400S possibly damaging Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Crhr1 T A 11: 104,044,377 (GRCm39) S22T probably benign Het
Cyp4a10 G T 4: 115,381,980 (GRCm39) V221L probably benign Het
D1Pas1 G T 1: 186,700,477 (GRCm39) W135C probably damaging Het
Dcbld2 T C 16: 58,285,701 (GRCm39) L620P probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Dnm3 T C 1: 161,911,699 (GRCm39) D66G probably damaging Het
Fzd10 G A 5: 128,679,476 (GRCm39) V399M probably damaging Het
Gm10801 T A 2: 98,494,361 (GRCm39) I146N possibly damaging Het
Gm525 T A 11: 88,965,830 (GRCm39) probably null Het
Gpr37l1 T C 1: 135,089,100 (GRCm39) I322V probably benign Het
Grid2ip T G 5: 143,371,794 (GRCm39) S679R probably damaging Het
Gyg1 A T 3: 20,209,189 (GRCm39) S15T probably benign Het
Hace1 G A 10: 45,587,604 (GRCm39) C901Y probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hp1bp3 C T 4: 137,949,018 (GRCm39) A27V probably benign Het
Hsf5 A G 11: 87,522,508 (GRCm39) Y367C probably damaging Het
Igf2r T C 17: 12,924,716 (GRCm39) I1034V probably benign Het
Itpr1 A G 6: 108,371,802 (GRCm39) T1159A probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrrc14 T C 15: 76,597,765 (GRCm39) V165A probably benign Het
Lrrc45 C T 11: 120,609,503 (GRCm39) A422V probably benign Het
Lrrk2 T A 15: 91,651,664 (GRCm39) probably null Het
Map3k4 T C 17: 12,454,880 (GRCm39) H1370R possibly damaging Het
Mpo A G 11: 87,691,866 (GRCm39) Y433C probably damaging Het
Nfkbil1 G T 17: 35,439,932 (GRCm39) Q194K probably benign Het
Nin C T 12: 70,125,016 (GRCm39) G102E probably damaging Het
Nmt1 T C 11: 102,943,059 (GRCm39) V138A probably benign Het
Optc T A 1: 133,828,920 (GRCm39) R176* probably null Het
Or10aa3 A T 1: 173,878,076 (GRCm39) I46F probably damaging Het
Or4c110 A G 2: 88,832,377 (GRCm39) F85S probably benign Het
Or52ae9 A C 7: 103,389,794 (GRCm39) Y218D probably damaging Het
Or6n2 T A 1: 173,897,147 (GRCm39) F94L probably damaging Het
Oxct1 T A 15: 4,066,601 (GRCm39) N72K possibly damaging Het
Plxna2 G A 1: 194,477,218 (GRCm39) A1243T probably benign Het
Rin1 G T 19: 5,103,002 (GRCm39) L430F probably benign Het
Ros1 A T 10: 52,070,944 (GRCm39) S37T possibly damaging Het
Sez6 T C 11: 77,867,708 (GRCm39) I875T probably damaging Het
Sfrp5 T G 19: 42,190,257 (GRCm39) Y65S probably damaging Het
Slc25a54 T A 3: 109,023,820 (GRCm39) L472I probably benign Het
Slc35d3 T C 10: 19,724,605 (GRCm39) E417G probably damaging Het
Sumf2 A G 5: 129,878,820 (GRCm39) D52G probably benign Het
Sympk A G 7: 18,781,447 (GRCm39) N801S possibly damaging Het
Taf7l2 G T 10: 115,948,540 (GRCm39) Q329K possibly damaging Het
Tcstv2c G A 13: 120,616,368 (GRCm39) C69Y probably damaging Het
Tmem38b T C 4: 53,854,398 (GRCm39) F210S probably damaging Het
Tnks T A 8: 35,407,966 (GRCm39) H254L probably damaging Het
Trappc10 A T 10: 78,046,237 (GRCm39) V451E probably benign Het
Trim43a A T 9: 88,465,131 (GRCm39) I153F probably benign Het
Tulp1 T C 17: 28,572,683 (GRCm39) N213S probably damaging Het
Ubr1 T C 2: 120,746,951 (GRCm39) D830G probably benign Het
Uqcc3 C T 19: 8,858,069 (GRCm39) probably null Het
Vmn2r26 T A 6: 124,002,938 (GRCm39) M116K probably benign Het
Zscan12 A G 13: 21,552,800 (GRCm39) Q208R probably benign Het
Other mutations in Rrp36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Rrp36 APN 17 46,979,017 (GRCm39) unclassified probably benign
R1085:Rrp36 UTSW 17 46,978,878 (GRCm39) makesense probably null
R1328:Rrp36 UTSW 17 46,983,705 (GRCm39) nonsense probably null
R1470:Rrp36 UTSW 17 46,983,306 (GRCm39) nonsense probably null
R1470:Rrp36 UTSW 17 46,983,306 (GRCm39) nonsense probably null
R1672:Rrp36 UTSW 17 46,983,340 (GRCm39) missense probably damaging 0.99
R1920:Rrp36 UTSW 17 46,983,671 (GRCm39) missense possibly damaging 0.78
R1922:Rrp36 UTSW 17 46,983,671 (GRCm39) missense possibly damaging 0.78
R2215:Rrp36 UTSW 17 46,983,746 (GRCm39) missense possibly damaging 0.92
R4280:Rrp36 UTSW 17 46,983,302 (GRCm39) missense probably damaging 1.00
R4747:Rrp36 UTSW 17 46,980,893 (GRCm39) missense possibly damaging 0.87
R5809:Rrp36 UTSW 17 46,978,932 (GRCm39) missense probably damaging 1.00
R6875:Rrp36 UTSW 17 46,983,297 (GRCm39) missense probably benign 0.43
R8818:Rrp36 UTSW 17 46,983,336 (GRCm39) missense probably damaging 1.00
R9180:Rrp36 UTSW 17 46,978,980 (GRCm39) missense possibly damaging 0.94
R9275:Rrp36 UTSW 17 46,983,306 (GRCm39) nonsense probably null
R9542:Rrp36 UTSW 17 46,983,492 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- CCGTCTTGGAGGAAGGTAAC -3'
(R):5'- GCAAGTAAGGATGGTCTTTGC -3'

Sequencing Primer
(F):5'- TCTTGGAGGAAGGTAACAGACATCTG -3'
(R):5'- CTCAGAAGACAGCTTTGGTCAGTC -3'
Posted On 2015-04-17