Incidental Mutation 'R5667:Rpl36al'
ID 444490
Institutional Source Beutler Lab
Gene Symbol Rpl36al
Ensembl Gene ENSMUSG00000049751
Gene Name ribosomal protein L36A-like
Synonyms 2410038A03Rik, RPL36A
MMRRC Submission 043310-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.746) question?
Stock # R5667 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 69229508-69230841 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 69229897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 5 (P5L)
Ref Sequence ENSEMBL: ENSMUSP00000106250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054544] [ENSMUST00000060579] [ENSMUST00000110619] [ENSMUST00000110620] [ENSMUST00000110621] [ENSMUST00000222520]
AlphaFold P83882
Predicted Effect possibly damaging
Transcript: ENSMUST00000054544
AA Change: P5L

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000059766
Gene: ENSMUSG00000049751
AA Change: P5L

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 possibly damaging
Transcript: ENSMUST00000110619
AA Change: P5L

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106249
Gene: ENSMUSG00000049751
AA Change: P5L

DomainStartEndE-ValueType
Pfam:Ribosomal_L44 17 95 1.3e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110620
AA Change: P5L

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106250
Gene: ENSMUSG00000049751
AA Change: P5L

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
Meta Mutation Damage Score 0.7832 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 96% (54/56)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
Adamts16 A T 13: 70,984,494 (GRCm39) Y56* probably null Het
Ak2 T A 4: 128,902,040 (GRCm39) F238I probably damaging Het
Akap8l T C 17: 32,557,266 (GRCm39) Y115C probably damaging Het
Alms1 A G 6: 85,673,753 (GRCm39) D3116G probably damaging Het
Arhgap24 T G 5: 102,994,037 (GRCm39) probably null Het
Arhgap45 A G 10: 79,861,310 (GRCm39) E491G probably damaging Het
Atp8b1 C T 18: 64,714,994 (GRCm39) C86Y probably damaging Het
Atxn1 T C 13: 45,710,853 (GRCm39) K693R probably benign Het
Bltp1 A T 3: 36,971,826 (GRCm39) T520S probably benign Het
Btbd10 T C 7: 112,931,931 (GRCm39) K165R probably damaging Het
Capn11 C T 17: 45,950,600 (GRCm39) R293Q possibly damaging Het
Chordc1 T G 9: 18,206,628 (GRCm39) F33V probably damaging Het
Clca4b G A 3: 144,627,624 (GRCm39) T449I probably benign Het
Clip4 A C 17: 72,096,878 (GRCm39) M1L probably damaging Het
Cyfip1 C T 7: 55,523,478 (GRCm39) T90I probably benign Het
Cyp4v3 G T 8: 45,761,572 (GRCm39) T417K possibly damaging Het
Exoc3l4 T C 12: 111,389,851 (GRCm39) I142T probably damaging Het
Flnb T A 14: 7,890,843 (GRCm38) I575N probably benign Het
Foxa1 A T 12: 57,589,081 (GRCm39) S380T probably benign Het
Foxi2 A T 7: 135,012,668 (GRCm39) probably null Het
Gad1-ps A T 10: 99,280,395 (GRCm39) noncoding transcript Het
Gpa33 A G 1: 165,974,360 (GRCm39) T66A possibly damaging Het
Gpr45 A G 1: 43,072,218 (GRCm39) Y287C probably damaging Het
H2-Eb1 C A 17: 34,533,229 (GRCm39) Y150* probably null Het
Hsd17b8 T C 17: 34,245,435 (GRCm39) D233G probably null Het
Ifna6 A T 4: 88,745,906 (GRCm39) Q85L probably damaging Het
Ivns1abp G T 1: 151,229,760 (GRCm39) L149F probably benign Het
Kank4 A G 4: 98,653,698 (GRCm39) probably null Het
Katnip T A 7: 125,442,627 (GRCm39) probably null Het
Lama2 A T 10: 27,066,540 (GRCm39) C1114S probably damaging Het
Lmbr1l A C 15: 98,805,489 (GRCm39) D337E possibly damaging Het
Lrrn3 A C 12: 41,502,297 (GRCm39) S673R possibly damaging Het
Ly75 T C 2: 60,138,655 (GRCm39) D1404G probably damaging Het
Muc4 A G 16: 32,575,011 (GRCm39) T1199A probably benign Het
Mycn A T 12: 12,990,045 (GRCm39) M117K possibly damaging Het
Nalcn A G 14: 123,532,818 (GRCm39) I1314T probably damaging Het
Nod1 T C 6: 54,910,561 (GRCm39) T869A probably benign Het
Or2y16 T C 11: 49,335,140 (GRCm39) V154A probably benign Het
Or4k39 C T 2: 111,238,818 (GRCm39) noncoding transcript Het
Plekhg2 A T 7: 28,067,064 (GRCm39) I356N probably damaging Het
Ptpru T A 4: 131,547,501 (GRCm39) Y112F possibly damaging Het
Ryr2 A G 13: 11,774,722 (GRCm39) W1145R probably damaging Het
Semp2l2b T A 10: 21,942,742 (GRCm39) T413S possibly damaging Het
Slc11a2 A G 15: 100,301,169 (GRCm39) Y295H probably damaging Het
Slc22a6 A G 19: 8,599,148 (GRCm39) probably null Het
Styxl1 A G 5: 135,785,977 (GRCm39) probably null Het
Tmc6 A G 11: 117,666,441 (GRCm39) S288P possibly damaging Het
Trpv4 A G 5: 114,772,617 (GRCm39) L371P probably damaging Het
Uqcc4 G A 17: 25,403,963 (GRCm39) S101N probably damaging Het
Usp8 A G 2: 126,584,345 (GRCm39) D518G probably benign Het
Washc4 T C 10: 83,405,892 (GRCm39) S463P probably damaging 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
R6638:Rpl36al UTSW 12 69,229,708 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CCTCTTGGATCTGCAGTTGG -3'
(R):5'- CACGTGGGAAATGAGTACTTGG -3'

Sequencing Primer
(F):5'- AAGCCTGAGCACAATCTTCTTTG -3'
(R):5'- ACTTTCGAGTTTGAAGATCT -3'
Posted On 2016-11-09