Incidental Mutation 'R4232:Mrps30'
ID 320924
Institutional Source Beutler Lab
Gene Symbol Mrps30
Ensembl Gene ENSMUSG00000021731
Gene Name mitochondrial ribosomal protein S30
Synonyms Pdcd9, 2610020A16Rik
MMRRC Submission 041051-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # R4232 (G1)
Quality Score 166
Status Validated
Chromosome 13
Chromosomal Location 118516646-118523788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118523376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 132 (D132G)
Ref Sequence ENSEMBL: ENSMUSP00000022245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022245] [ENSMUST00000181168]
AlphaFold Q9D0G0
Predicted Effect probably damaging
Transcript: ENSMUST00000022245
AA Change: D132G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022245
Gene: ENSMUSG00000021731
AA Change: D132G

DomainStartEndE-ValueType
Pfam:PDCD9 1 423 1.7e-180 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000181168
AA Change: S13P
SMART Domains Protein: ENSMUSP00000137680
Gene: ENSMUSG00000097411
AA Change: S13P

DomainStartEndE-ValueType
low complexity region 6 27 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
low complexity region 117 125 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225170
Meta Mutation Damage Score 0.4820 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 92% (58/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that is similar to the chicken pro-apoptotic protein p52. Transcript variants using alternative promoters or polyA sites have been mentioned in the literature but the complete description of these sequences is not available. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Aven A G 2: 112,458,113 (GRCm39) D167G probably damaging Het
Celsr2 A G 3: 108,321,088 (GRCm39) F575L probably benign Het
Cflar A T 1: 58,780,152 (GRCm39) Q249L possibly damaging Het
Col7a1 G A 9: 108,801,881 (GRCm39) probably null Het
Dmxl2 T C 9: 54,327,193 (GRCm39) D944G possibly damaging Het
Dnah1 T C 14: 31,026,873 (GRCm39) N717S probably benign Het
Dnaja3 T A 16: 4,517,735 (GRCm39) N322K possibly damaging Het
Dnajb3 A G 1: 88,132,974 (GRCm39) S143P possibly damaging Het
Dtx3 A G 10: 127,029,058 (GRCm39) I60T possibly damaging Het
Dvl3 A G 16: 20,342,983 (GRCm39) probably benign Het
Fkbp7 A T 2: 76,493,661 (GRCm39) D177E possibly damaging Het
Galnt7 T C 8: 58,106,000 (GRCm39) I5V probably benign Het
Garin3 C A 11: 46,298,232 (GRCm39) T512K possibly damaging Het
Helz2 A T 2: 180,871,695 (GRCm39) L2639Q probably damaging Het
Hnrnpr T C 4: 136,066,500 (GRCm39) M394T probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kif14 T A 1: 136,444,101 (GRCm39) C1364* probably null Het
Macf1 T C 4: 123,326,185 (GRCm39) E5104G probably damaging Het
Mrtfa T A 15: 80,907,796 (GRCm39) K29M probably damaging Het
Mtbp CATGA CATGAATGA 15: 55,484,073 (GRCm39) probably null Het
Nfkb1 A G 3: 135,309,531 (GRCm39) V521A probably damaging Het
Or2b7 T C 13: 21,739,631 (GRCm39) D187G probably damaging Het
Or7g32 G T 9: 19,389,022 (GRCm39) L175M probably damaging Het
P2rx6 T C 16: 17,388,631 (GRCm39) L335P probably damaging Het
Pcdhga5 A G 18: 37,829,001 (GRCm39) D483G possibly damaging Het
Pgpep1l T C 7: 67,886,827 (GRCm39) T161A probably benign Het
Prss40 A G 1: 34,599,873 (GRCm39) V38A probably benign Het
Ptk2 C A 15: 73,181,698 (GRCm39) R104L possibly damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rtp4 A G 16: 23,431,833 (GRCm39) N122D possibly damaging Het
Samd8 A G 14: 21,830,213 (GRCm39) Y213C probably benign Het
Shcbp1 T A 8: 4,786,372 (GRCm39) T577S probably benign Het
Tiprl A G 1: 165,050,156 (GRCm39) V153A probably damaging Het
Tmprss7 A T 16: 45,476,936 (GRCm39) D775E probably damaging Het
Tnr T C 1: 159,713,785 (GRCm39) S738P possibly damaging Het
Tsc22d4 T C 5: 137,749,632 (GRCm39) probably null Het
Ttc21a A T 9: 119,771,684 (GRCm39) H161L probably benign Het
Ubqln3 T A 7: 103,791,010 (GRCm39) E360V probably benign Het
Ugt1a10 C A 1: 87,983,932 (GRCm39) D243E probably benign Het
Vmn2r19 G A 6: 123,306,871 (GRCm39) V460I probably benign Het
Vmn2r58 T A 7: 41,487,011 (GRCm39) Y628F possibly damaging Het
Wnk1 A T 6: 119,926,222 (GRCm39) S1588T possibly damaging Het
Wscd2 A G 5: 113,699,045 (GRCm39) D200G probably benign Het
Zfp831 G C 2: 174,547,447 (GRCm39) W1543C possibly damaging Het
Other mutations in Mrps30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01647:Mrps30 APN 13 118,517,146 (GRCm39) missense probably damaging 1.00
R0030:Mrps30 UTSW 13 118,519,531 (GRCm39) missense possibly damaging 0.94
R2439:Mrps30 UTSW 13 118,521,808 (GRCm39) missense probably damaging 1.00
R2764:Mrps30 UTSW 13 118,521,124 (GRCm39) missense probably benign 0.03
R4030:Mrps30 UTSW 13 118,517,077 (GRCm39) missense probably damaging 1.00
R4231:Mrps30 UTSW 13 118,523,376 (GRCm39) missense probably damaging 0.98
R4234:Mrps30 UTSW 13 118,523,376 (GRCm39) missense probably damaging 0.98
R4235:Mrps30 UTSW 13 118,523,376 (GRCm39) missense probably damaging 0.98
R4236:Mrps30 UTSW 13 118,523,376 (GRCm39) missense probably damaging 0.98
R4625:Mrps30 UTSW 13 118,523,250 (GRCm39) missense probably benign 0.14
R4935:Mrps30 UTSW 13 118,523,431 (GRCm39) missense possibly damaging 0.82
R5363:Mrps30 UTSW 13 118,523,698 (GRCm39) missense probably benign 0.39
R5986:Mrps30 UTSW 13 118,521,101 (GRCm39) critical splice donor site probably null
R6566:Mrps30 UTSW 13 118,523,662 (GRCm39) missense probably benign 0.00
R6681:Mrps30 UTSW 13 118,517,134 (GRCm39) missense probably damaging 0.98
R6694:Mrps30 UTSW 13 118,523,497 (GRCm39) missense possibly damaging 0.82
R6699:Mrps30 UTSW 13 118,517,134 (GRCm39) missense probably damaging 0.98
R6700:Mrps30 UTSW 13 118,517,134 (GRCm39) missense probably damaging 0.98
R6788:Mrps30 UTSW 13 118,516,908 (GRCm39) missense probably benign 0.06
R8788:Mrps30 UTSW 13 118,523,538 (GRCm39) missense possibly damaging 0.86
R8905:Mrps30 UTSW 13 118,523,479 (GRCm39) missense probably benign
R8914:Mrps30 UTSW 13 118,523,755 (GRCm39) missense possibly damaging 0.52
R8927:Mrps30 UTSW 13 118,523,205 (GRCm39) missense probably damaging 1.00
R8928:Mrps30 UTSW 13 118,523,205 (GRCm39) missense probably damaging 1.00
R8930:Mrps30 UTSW 13 118,523,695 (GRCm39) missense probably benign
R8932:Mrps30 UTSW 13 118,523,695 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TACTGAACCTGCAGGAAAGCTTG -3'
(R):5'- ATTGTCCCAGAATGCCGCTG -3'

Sequencing Primer
(F):5'- TGGGAGTTCCAAGCTCACC -3'
(R):5'- TCCCAGAATGCCGCTGCTAAG -3'
Posted On 2015-06-12