Incidental Mutation 'R6638:Rpl36al'
ID 525597
Institutional Source Beutler Lab
Gene Symbol Rpl36al
Ensembl Gene ENSMUSG00000049751
Gene Name ribosomal protein L36A-like
Synonyms 2410038A03Rik, RPL36A
MMRRC Submission 044759-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.746) question?
Stock # R6638 (G1)
Quality Score 212.009
Status Not validated
Chromosome 12
Chromosomal Location 69229508-69230841 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69229708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 68 (L68P)
Ref Sequence ENSEMBL: ENSMUSP00000106250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054544] [ENSMUST00000060579] [ENSMUST00000110619] [ENSMUST00000110620] [ENSMUST00000110621] [ENSMUST00000222520]
AlphaFold P83882
Predicted Effect probably damaging
Transcript: ENSMUST00000054544
AA Change: L68P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000059766
Gene: ENSMUSG00000049751
AA Change: L68P

DomainStartEndE-ValueType
Pfam:Ribosomal_L44 17 94 6.3e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000060579
SMART Domains Protein: ENSMUSP00000057905
Gene: ENSMUSG00000043998

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
Pfam:MGAT2 87 435 2.4e-158 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110619
AA Change: L68P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106249
Gene: ENSMUSG00000049751
AA Change: L68P

DomainStartEndE-ValueType
Pfam:Ribosomal_L44 17 95 1.3e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110620
AA Change: L68P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106250
Gene: ENSMUSG00000049751
AA Change: L68P

DomainStartEndE-ValueType
Pfam:Ribosomal_L44 17 95 1.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110621
SMART Domains Protein: ENSMUSP00000106251
Gene: ENSMUSG00000034883

DomainStartEndE-ValueType
LRR 184 206 8.09e-1 SMART
LRR 207 230 4.57e0 SMART
LRR 234 255 7.17e1 SMART
LRR 256 278 1.71e2 SMART
LRR 279 301 6.05e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000222520
Predicted Effect probably benign
Transcript: ENSMUST00000223192
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. This gene and the human gene officially named ribosomal protein L36a (RPL36A) encode nearly identical proteins; however, they are distinct genes. Although the name of this gene has been referred to as ribosomal protein L36a (RPL36A), its official name is ribosomal protein L36a-like (RPL36AL). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,451,521 (GRCm39) N868K probably benign Het
Cep112 T C 11: 108,746,696 (GRCm39) S980P probably damaging Het
Dlk1 A G 12: 109,426,204 (GRCm39) E95G probably damaging Het
Dnah6 A T 6: 73,012,263 (GRCm39) probably null Het
Dppa2 A T 16: 48,134,523 (GRCm39) H118L possibly damaging Het
Eif4enif1 T C 11: 3,192,463 (GRCm39) S740P probably damaging Het
Eva1b T C 4: 126,043,265 (GRCm39) S102P probably benign Het
Fndc3a G A 14: 72,796,688 (GRCm39) R637* probably null Het
Fras1 A T 5: 96,905,953 (GRCm39) D3119V possibly damaging Het
Hmgcr T C 13: 96,795,490 (GRCm39) T360A probably benign Het
Kif21a A G 15: 90,850,610 (GRCm39) V1017A probably damaging Het
Lats2 A G 14: 57,936,822 (GRCm39) S556P probably damaging Het
Lrrc7 A G 3: 157,840,940 (GRCm39) F1366S probably benign Het
Mtmr2 C A 9: 13,707,429 (GRCm39) A327E probably damaging Het
Naip6 C A 13: 100,436,909 (GRCm39) S538I probably benign Het
Or9r3 T C 10: 129,947,739 (GRCm39) T307A probably benign Het
Ovch2 A T 7: 107,388,301 (GRCm39) H426Q probably benign Het
Plxna1 A T 6: 89,301,382 (GRCm39) V1506E probably damaging Het
Poldip3 A T 15: 83,017,401 (GRCm39) S225T probably damaging Het
Polr3h A G 15: 81,802,505 (GRCm39) L108P possibly damaging Het
Prss44 G A 9: 110,646,271 (GRCm39) V333M probably damaging Het
Ptprk C T 10: 28,471,807 (GRCm39) R1432C probably damaging Het
Tagap T C 17: 8,145,906 (GRCm39) S26P possibly damaging Het
Vapb A G 2: 173,613,362 (GRCm39) K87R probably damaging Het
Vmn1r35 G A 6: 66,655,848 (GRCm39) T274I possibly damaging Het
Wdsub1 A T 2: 59,700,785 (GRCm39) probably benign Het
Xrcc5 C T 1: 72,422,521 (GRCm39) S651L possibly damaging Het
Zfyve27 T A 19: 42,169,936 (GRCm39) probably null Het
Other mutations in Rpl36al
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1872:Rpl36al UTSW 12 69,229,697 (GRCm39) missense probably damaging 1.00
R4736:Rpl36al UTSW 12 69,229,732 (GRCm39) missense possibly damaging 0.60
R5667:Rpl36al UTSW 12 69,229,897 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- AGCAGGTCATTTCTCTACTGC -3'
(R):5'- GTTCTCATCGCAGACACTTCTACTG -3'

Sequencing Primer
(F):5'- GCTTCAGTATTTTCCTCTCAGAGAAC -3'
(R):5'- TTCTACTGCAAACATGGTCAACG -3'
Posted On 2018-06-22