Incidental Mutation 'R6225:Mrpl2'
ID 504302
Institutional Source Beutler Lab
Gene Symbol Mrpl2
Ensembl Gene ENSMUSG00000002767
Gene Name mitochondrial ribosomal protein L2
Synonyms CGI-22, MRP-L14, Rpml14
MMRRC Submission 044356-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # R6225 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 46957155-46961065 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46960835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 243 (V243A)
Ref Sequence ENSEMBL: ENSMUSP00000109057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002844] [ENSMUST00000003642] [ENSMUST00000043464] [ENSMUST00000113429] [ENSMUST00000113430] [ENSMUST00000133393] [ENSMUST00000145567]
AlphaFold Q9D773
Predicted Effect probably damaging
Transcript: ENSMUST00000002844
AA Change: V245A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000002844
Gene: ENSMUSG00000002767
AA Change: V245A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Ribosomal_L2 84 166 3.44e-29 SMART
Ribosomal_L2_C 177 298 1.32e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000003642
SMART Domains Protein: ENSMUSP00000003642
Gene: ENSMUSG00000003546

DomainStartEndE-ValueType
coiled coil region 90 155 N/A INTRINSIC
low complexity region 194 204 N/A INTRINSIC
Pfam:TPR_10 210 251 9.4e-9 PFAM
TPR 253 286 3.32e-1 SMART
TPR 295 328 7.16e-6 SMART
TPR 337 370 4.21e-3 SMART
TPR 379 412 9.03e-3 SMART
low complexity region 429 443 N/A INTRINSIC
TPR 464 497 9.99e1 SMART
low complexity region 609 619 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000043464
SMART Domains Protein: ENSMUSP00000049128
Gene: ENSMUSG00000038545

DomainStartEndE-ValueType
low complexity region 46 54 N/A INTRINSIC
low complexity region 218 229 N/A INTRINSIC
low complexity region 315 324 N/A INTRINSIC
Pfam:Cul7 349 423 5.7e-34 PFAM
low complexity region 462 476 N/A INTRINSIC
low complexity region 603 618 N/A INTRINSIC
low complexity region 635 648 N/A INTRINSIC
APC10 811 973 9.35e-49 SMART
low complexity region 983 993 N/A INTRINSIC
low complexity region 1063 1074 N/A INTRINSIC
low complexity region 1301 1318 N/A INTRINSIC
low complexity region 1335 1370 N/A INTRINSIC
Blast:Cullin_Nedd8 1550 1633 1e-41 BLAST
Predicted Effect silent
Transcript: ENSMUST00000113429
SMART Domains Protein: ENSMUSP00000109056
Gene: ENSMUSG00000002767

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Ribosomal_L2 84 166 1.1e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113430
AA Change: V243A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109057
Gene: ENSMUSG00000002767
AA Change: V243A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Ribosomal_L2 82 164 1.6e-31 PFAM
Pfam:Ribosomal_L2_C 175 279 5.6e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132790
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144966
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146183
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151002
Predicted Effect probably benign
Transcript: ENSMUST00000133393
SMART Domains Protein: ENSMUSP00000119393
Gene: ENSMUSG00000038545

DomainStartEndE-ValueType
low complexity region 17 26 N/A INTRINSIC
Pfam:Cul7 51 126 8e-34 PFAM
low complexity region 164 178 N/A INTRINSIC
low complexity region 305 320 N/A INTRINSIC
low complexity region 337 350 N/A INTRINSIC
SCOP:d1gqpa_ 487 568 1e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145567
SMART Domains Protein: ENSMUSP00000116133
Gene: ENSMUSG00000038545

DomainStartEndE-ValueType
low complexity region 46 54 N/A INTRINSIC
SCOP:d1jdha_ 63 222 2e-4 SMART
low complexity region 315 324 N/A INTRINSIC
Pfam:Cul7 349 424 9.5e-34 PFAM
low complexity region 462 476 N/A INTRINSIC
Meta Mutation Damage Score 0.8765 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (74/74)
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 39S subunit protein that belongs to the EcoL2 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 12q. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,870,445 (GRCm39) H288R possibly damaging Het
Adh1 T C 3: 137,995,565 (GRCm39) F323L probably benign Het
Adss1 A C 12: 112,600,837 (GRCm39) H226P probably damaging Het
Ahrr A G 13: 74,371,031 (GRCm39) S230P possibly damaging Het
Akap9 T C 5: 4,012,105 (GRCm39) V936A probably damaging Het
B4galnt2 A G 11: 95,759,268 (GRCm39) Y339H probably damaging Het
Bltp1 T C 3: 37,002,453 (GRCm39) V1466A probably damaging Het
C4b C A 17: 34,957,848 (GRCm39) G611V possibly damaging Het
Cacna1i A G 15: 80,205,427 (GRCm39) M128V probably damaging Het
Chia1 T C 3: 106,038,213 (GRCm39) S370P possibly damaging Het
Cops6 T C 5: 138,159,673 (GRCm39) V9A possibly damaging Het
D630003M21Rik A T 2: 158,059,321 (GRCm39) I193K probably benign Het
Daam2 T C 17: 49,801,467 (GRCm39) D90G probably damaging Het
Fads3 A G 19: 10,019,202 (GRCm39) D36G probably benign Het
Fam185a T C 5: 21,630,554 (GRCm39) V130A probably damaging Het
Fbn1 A T 2: 125,172,463 (GRCm39) N1928K probably damaging Het
Fstl3 A G 10: 79,615,843 (GRCm39) M110V probably benign Het
G2e3 A G 12: 51,415,919 (GRCm39) T552A possibly damaging Het
Gfra1 G A 19: 58,226,830 (GRCm39) T462I probably damaging Het
Glrx2 T A 1: 143,621,121 (GRCm39) probably benign Het
Gm10100 G T 10: 77,562,498 (GRCm39) C60F possibly damaging Het
Gm43302 T A 5: 105,425,605 (GRCm39) K275* probably null Het
Gm6569 A G 15: 73,711,640 (GRCm39) probably benign Het
Herc6 G T 6: 57,639,139 (GRCm39) V867L possibly damaging Het
Hhipl2 T A 1: 183,209,459 (GRCm39) probably null Het
Kcnj16 A T 11: 110,916,378 (GRCm39) K347* probably null Het
Kcnt2 T A 1: 140,354,661 (GRCm39) C305* probably null Het
Large2 A G 2: 92,196,825 (GRCm39) L477P probably damaging Het
Lnpep T C 17: 17,799,245 (GRCm39) T137A possibly damaging Het
Mettl3 T C 14: 52,534,215 (GRCm39) probably null Het
Mical3 C T 6: 120,935,684 (GRCm39) S1614N probably damaging Het
Mmut T A 17: 41,249,622 (GRCm39) V199E possibly damaging Het
Morc3 C A 16: 93,642,082 (GRCm39) Y100* probably null Het
Mrc2 A G 11: 105,237,646 (GRCm39) K1108R probably benign Het
Mtor T A 4: 148,605,794 (GRCm39) N1505K probably benign Het
Myo1g A T 11: 6,469,168 (GRCm39) Y45N probably damaging Het
Nckap5l C A 15: 99,325,905 (GRCm39) L199F possibly damaging Het
Ndufc2 A G 7: 97,056,099 (GRCm39) T66A probably damaging Het
Nos1 T A 5: 118,050,917 (GRCm39) H779Q probably damaging Het
Or12e13 A G 2: 87,663,661 (GRCm39) T93A probably benign Het
Or13j1 T C 4: 43,705,698 (GRCm39) Y290C probably damaging Het
Or1e23 T C 11: 73,407,831 (GRCm39) N65D probably damaging Het
Or4c3 A G 2: 89,851,573 (GRCm39) probably null Het
Or51ah3 A T 7: 103,210,489 (GRCm39) R268S probably benign Het
Or5au1 C A 14: 52,272,825 (GRCm39) V248L possibly damaging Het
Or5k16 T C 16: 58,736,545 (GRCm39) N153S probably benign Het
Otog C T 7: 45,898,458 (GRCm39) T192I possibly damaging Het
Oxct1 T C 15: 4,064,812 (GRCm39) V50A probably benign Het
P3h2 T A 16: 25,784,493 (GRCm39) D667V probably damaging Het
Pcdhb20 A G 18: 37,638,047 (GRCm39) Y191C probably damaging Het
Pds5b T G 5: 150,670,083 (GRCm39) V357G probably damaging Het
Pggt1b A G 18: 46,407,674 (GRCm39) V81A possibly damaging Het
Phxr2 A G 10: 98,962,043 (GRCm39) probably benign Het
Pnpt1 T C 11: 29,095,469 (GRCm39) I406T probably benign Het
Ppat T C 5: 77,070,202 (GRCm39) I173V probably damaging Het
Proser3 T C 7: 30,243,153 (GRCm39) S167G probably damaging Het
Rnf135 A C 11: 80,080,053 (GRCm39) T115P possibly damaging Het
Rpl22 C T 4: 152,414,536 (GRCm39) R65C probably benign Het
Scel T C 14: 103,829,420 (GRCm39) F405L probably benign Het
Serinc3 A G 2: 163,469,799 (GRCm39) Y350H probably damaging Het
Slc25a16 C A 10: 62,764,102 (GRCm39) T53K probably damaging Het
Slco1a1 A T 6: 141,870,215 (GRCm39) F308I possibly damaging Het
Slitrk5 GACTAC GACTACTAC 14: 111,917,248 (GRCm39) probably benign Het
Smok3c T C 5: 138,063,314 (GRCm39) V267A probably benign Het
Ssrp1 A G 2: 84,873,158 (GRCm39) D473G probably benign Het
Svs6 A G 2: 164,159,405 (GRCm39) E56G possibly damaging Het
Tas2r130 TCATTTC T 6: 131,607,547 (GRCm39) probably benign Het
Thoc3 T C 13: 54,615,785 (GRCm39) N93S probably benign Het
Tle6 A G 10: 81,428,600 (GRCm39) C443R probably damaging Het
Tmed6 A G 8: 107,788,371 (GRCm39) F192S probably damaging Het
Tpx2 A G 2: 152,718,548 (GRCm39) N184D probably benign Het
Vmn2r31 T A 7: 7,397,638 (GRCm39) N207Y probably benign Het
Zfp267 T C 3: 36,220,352 (GRCm39) F792L probably benign Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp972 A T 2: 177,549,117 (GRCm39) probably null Het
Zzef1 G A 11: 72,760,631 (GRCm39) C1318Y possibly damaging Het
Other mutations in Mrpl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01517:Mrpl2 APN 17 46,960,909 (GRCm39) missense probably damaging 1.00
IGL01757:Mrpl2 APN 17 46,959,183 (GRCm39) missense probably damaging 1.00
IGL02292:Mrpl2 APN 17 46,959,157 (GRCm39) unclassified probably benign
IGL03177:Mrpl2 APN 17 46,959,963 (GRCm39) missense probably damaging 0.99
IGL03326:Mrpl2 APN 17 46,960,853 (GRCm39) missense possibly damaging 0.78
R1620:Mrpl2 UTSW 17 46,958,425 (GRCm39) missense probably benign 0.28
R2567:Mrpl2 UTSW 17 46,958,427 (GRCm39) missense probably benign 0.17
R4573:Mrpl2 UTSW 17 46,959,967 (GRCm39) missense possibly damaging 0.89
R5102:Mrpl2 UTSW 17 46,960,964 (GRCm39) missense probably benign 0.11
R5103:Mrpl2 UTSW 17 46,960,964 (GRCm39) missense probably benign 0.11
R5283:Mrpl2 UTSW 17 46,959,992 (GRCm39) missense possibly damaging 0.83
R5405:Mrpl2 UTSW 17 46,960,036 (GRCm39) critical splice donor site probably null
R6199:Mrpl2 UTSW 17 46,960,012 (GRCm39) missense probably damaging 1.00
R6232:Mrpl2 UTSW 17 46,958,356 (GRCm39) missense probably benign 0.01
R6841:Mrpl2 UTSW 17 46,958,382 (GRCm39) missense probably benign 0.31
R7170:Mrpl2 UTSW 17 46,959,181 (GRCm39) missense probably damaging 1.00
R7784:Mrpl2 UTSW 17 46,959,517 (GRCm39) splice site probably null
R7831:Mrpl2 UTSW 17 46,959,598 (GRCm39) missense possibly damaging 0.93
R8284:Mrpl2 UTSW 17 46,958,435 (GRCm39) nonsense probably null
R8938:Mrpl2 UTSW 17 46,957,238 (GRCm39) unclassified probably benign
R9510:Mrpl2 UTSW 17 46,958,440 (GRCm39) missense probably benign 0.19
X0018:Mrpl2 UTSW 17 46,959,277 (GRCm39) missense probably damaging 1.00
Z1088:Mrpl2 UTSW 17 46,958,404 (GRCm39) missense probably null 0.14
Predicted Primers PCR Primer
(F):5'- ACATAGATATGGGGAGTCTTTTCC -3'
(R):5'- ATCAGTTTTGGGCAGCAGCG -3'

Sequencing Primer
(F):5'- TTAATTCATTGTTGGACCCACG -3'
(R):5'- GGAGGGCAGCTTCACATAACTC -3'
Posted On 2018-02-28