Incidental Mutation 'R6807:Lrpprc'
ID 533629
Institutional Source Beutler Lab
Gene Symbol Lrpprc
Ensembl Gene ENSMUSG00000024120
Gene Name leucine-rich PPR-motif containing
Synonyms Lrp130, 3110001K13Rik
MMRRC Submission 044920-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6807 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 85012675-85098214 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85056531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 787 (S787P)
Ref Sequence ENSEMBL: ENSMUSP00000107927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112308]
AlphaFold Q6PB66
Predicted Effect possibly damaging
Transcript: ENSMUST00000112308
AA Change: S787P

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107927
Gene: ENSMUSG00000024120
AA Change: S787P

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 32 50 N/A INTRINSIC
low complexity region 123 136 N/A INTRINSIC
Pfam:PPR_3 196 228 9.1e-4 PFAM
Pfam:PPR 197 227 2.3e-4 PFAM
Pfam:PPR_3 231 264 7.9e-6 PFAM
Pfam:PPR 232 262 4e-4 PFAM
Pfam:PPR_3 266 297 9.7e-3 PFAM
internal_repeat_2 391 477 3.13e-7 PROSPERO
Pfam:PPR 750 778 3.4e-4 PFAM
low complexity region 1017 1028 N/A INTRINSIC
internal_repeat_1 1042 1362 1.09e-11 PROSPERO
low complexity region 1366 1375 N/A INTRINSIC
Predicted Effect
Meta Mutation Damage Score 0.5556 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.9%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality during organogenesis associated with growth retardation. Mice homozygous for a knock-out allele exhibit embryonic lethality between somite formation and embryo turning. [provided by MGI curators]
Allele List at MGI

All alleles(13) : Targeted(3) Gene trapped(10)

Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,282,356 (GRCm39) T2158A probably benign Het
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Apol7a T C 15: 77,277,520 (GRCm39) probably null Het
Bicdl1 C T 5: 115,810,202 (GRCm39) probably null Het
Bop1 T A 15: 76,339,183 (GRCm39) Q362L probably damaging Het
C4b T C 17: 34,949,930 (GRCm39) D1418G probably benign Het
Cdh23 A G 10: 60,214,650 (GRCm39) V1455A possibly damaging Het
Cecr2 T G 6: 120,711,503 (GRCm39) probably null Het
Cer1 T C 4: 82,801,052 (GRCm39) S204G probably benign Het
Cers3 G C 7: 66,413,968 (GRCm39) W15C probably damaging Het
Csn1s2a A T 5: 87,929,731 (GRCm39) H110L probably benign Het
Dnah10 T G 5: 124,867,064 (GRCm39) probably null Het
Dync2h1 T C 9: 7,041,718 (GRCm39) N3315S probably benign Het
Dynlrb2 T C 8: 117,234,299 (GRCm39) M21T probably benign Het
Emilin1 T A 5: 31,072,871 (GRCm39) F103I probably benign Het
Esrra T A 19: 6,889,142 (GRCm39) M416L probably benign Het
Etaa1 C A 11: 17,902,680 (GRCm39) V86L probably benign Het
Extl3 A G 14: 65,314,211 (GRCm39) S324P probably damaging Het
Fam90a1a T C 8: 22,453,368 (GRCm39) V241A probably benign Het
Fat4 C A 3: 39,036,589 (GRCm39) Q3414K probably benign Het
Gpr162 C T 6: 124,838,164 (GRCm39) R162H probably damaging Het
Gpr21 T A 2: 37,407,974 (GRCm39) Y173* probably null Het
Gprc6a G A 10: 51,502,841 (GRCm39) Q341* probably null Het
Herc2 T A 7: 55,814,670 (GRCm39) S2674R probably damaging Het
Hnrnpdl A T 5: 100,186,995 (GRCm39) H9Q probably null Het
Hps1 A G 19: 42,759,217 (GRCm39) V125A possibly damaging Het
Iba57 G T 11: 59,049,440 (GRCm39) P243H probably damaging Het
Incenp G T 19: 9,855,120 (GRCm39) A597E unknown Het
Kat6a T A 8: 23,430,384 (GRCm39) M1913K unknown Het
Klb G A 5: 65,536,877 (GRCm39) V736M probably damaging Het
Krt33a T A 11: 99,903,209 (GRCm39) T278S possibly damaging Het
Krt73 T G 15: 101,704,842 (GRCm39) E348A probably damaging Het
Lig3 T A 11: 82,674,577 (GRCm39) D134E probably benign Het
Limd2 T C 11: 106,049,771 (GRCm39) T73A probably benign Het
Macf1 A G 4: 123,268,208 (GRCm39) M6735T probably damaging Het
Mapkbp1 C A 2: 119,851,640 (GRCm39) Q861K probably damaging Het
Mc4r T A 18: 66,992,927 (GRCm39) N62I probably damaging Het
Metap1d G A 2: 71,341,858 (GRCm39) V151I probably damaging Het
Nek2 T C 1: 191,554,729 (GRCm39) V147A probably damaging Het
Nlrp1b A T 11: 71,108,530 (GRCm39) W324R probably damaging Het
Nol4l G T 2: 153,325,746 (GRCm39) S113* probably null Het
Oc90 T A 15: 65,761,463 (GRCm39) D185V probably damaging Het
Or2a52 T C 6: 43,144,172 (GRCm39) F60S probably damaging Het
Or2v1 G A 11: 49,025,805 (GRCm39) R262K probably damaging Het
Or4a71 G A 2: 89,357,932 (GRCm39) T274M probably damaging Het
Or5m13 A T 2: 85,748,382 (GRCm39) T38S possibly damaging Het
Or5p51 T A 7: 107,444,797 (GRCm39) T48S possibly damaging Het
Or8g50 A T 9: 39,648,914 (GRCm39) K268* probably null Het
Pcdha8 A G 18: 37,127,401 (GRCm39) T628A probably damaging Het
Pcsk5 A T 19: 17,549,986 (GRCm39) probably null Het
Pdgfrb T C 18: 61,211,721 (GRCm39) probably null Het
Pgm3 A T 9: 86,438,555 (GRCm39) probably null Het
Pin1rt1 T A 2: 104,545,063 (GRCm39) Y23F probably benign Het
Poli T A 18: 70,663,222 (GRCm39) probably null Het
Pom121 C A 5: 135,409,978 (GRCm39) probably benign Het
Ppp2r5c A G 12: 110,535,456 (GRCm39) D407G possibly damaging Het
Pramel28 A G 4: 143,691,581 (GRCm39) S381P probably damaging Het
Rgs12 A G 5: 35,180,515 (GRCm39) D116G probably null Het
Serpina3b A T 12: 104,099,251 (GRCm39) E255D probably benign Het
Sft2d1rt T C 11: 45,942,859 (GRCm39) Q88R probably damaging Het
Slc46a1 A G 11: 78,357,790 (GRCm39) H281R probably damaging Het
Spata6 T C 4: 111,642,012 (GRCm39) I294T probably benign Het
Srgap1 T A 10: 121,664,631 (GRCm39) probably null Het
Stag1 C T 9: 100,826,903 (GRCm39) R957C probably damaging Het
Stk35 G A 2: 129,643,573 (GRCm39) E186K probably damaging Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tenm4 G A 7: 96,544,478 (GRCm39) V2165I probably damaging Het
Tmem53 T C 4: 117,125,528 (GRCm39) S207P probably benign Het
Ugt2a3 A G 5: 87,484,617 (GRCm39) F136L probably benign Het
Unc13d T C 11: 115,957,577 (GRCm39) K795E probably damaging Het
Zbtb11 C A 16: 55,810,865 (GRCm39) T341K probably benign Het
Other mutations in Lrpprc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Lrpprc APN 17 85,057,953 (GRCm39) missense possibly damaging 0.91
IGL01319:Lrpprc APN 17 85,012,840 (GRCm39) utr 3 prime probably benign
IGL01380:Lrpprc APN 17 85,030,158 (GRCm39) missense probably benign
IGL01560:Lrpprc APN 17 85,015,547 (GRCm39) missense probably benign 0.07
IGL01582:Lrpprc APN 17 85,061,971 (GRCm39) missense probably null 0.00
IGL01996:Lrpprc APN 17 85,080,698 (GRCm39) missense probably benign
IGL02109:Lrpprc APN 17 85,033,998 (GRCm39) nonsense probably null
IGL02163:Lrpprc APN 17 85,060,900 (GRCm39) missense probably damaging 0.97
IGL02248:Lrpprc APN 17 85,078,895 (GRCm39) missense probably damaging 0.99
IGL02503:Lrpprc APN 17 85,033,767 (GRCm39) missense probably benign
IGL02545:Lrpprc APN 17 85,082,853 (GRCm39) missense probably benign
IGL02570:Lrpprc APN 17 85,057,981 (GRCm39) missense probably damaging 1.00
IGL02636:Lrpprc APN 17 85,060,532 (GRCm39) unclassified probably benign
IGL02943:Lrpprc APN 17 85,078,878 (GRCm39) missense probably benign 0.00
IGL03008:Lrpprc APN 17 85,058,675 (GRCm39) missense probably benign 0.05
elusory UTSW 17 85,020,215 (GRCm39) missense probably benign 0.01
phantom UTSW 17 85,079,575 (GRCm39) missense probably damaging 1.00
R6807_Lrpprc_629 UTSW 17 85,056,531 (GRCm39) missense possibly damaging 0.93
Stereotype UTSW 17 85,074,483 (GRCm39) missense probably damaging 1.00
thus UTSW 17 85,078,355 (GRCm39) missense probably benign 0.01
P0023:Lrpprc UTSW 17 85,033,766 (GRCm39) missense probably benign 0.00
R0027:Lrpprc UTSW 17 85,074,435 (GRCm39) nonsense probably null
R0027:Lrpprc UTSW 17 85,074,435 (GRCm39) nonsense probably null
R0302:Lrpprc UTSW 17 85,047,506 (GRCm39) missense possibly damaging 0.76
R0389:Lrpprc UTSW 17 85,060,540 (GRCm39) critical splice donor site probably null
R0448:Lrpprc UTSW 17 85,078,322 (GRCm39) missense probably benign 0.09
R1396:Lrpprc UTSW 17 85,033,731 (GRCm39) missense possibly damaging 0.68
R1759:Lrpprc UTSW 17 85,047,509 (GRCm39) missense probably damaging 1.00
R2019:Lrpprc UTSW 17 85,059,759 (GRCm39) missense possibly damaging 0.56
R2169:Lrpprc UTSW 17 85,077,505 (GRCm39) missense probably benign 0.00
R2312:Lrpprc UTSW 17 85,080,686 (GRCm39) missense probably damaging 0.96
R2319:Lrpprc UTSW 17 85,033,818 (GRCm39) missense probably benign
R2568:Lrpprc UTSW 17 85,034,077 (GRCm39) missense probably damaging 1.00
R3013:Lrpprc UTSW 17 85,074,497 (GRCm39) missense probably benign 0.04
R3620:Lrpprc UTSW 17 85,077,452 (GRCm39) missense probably benign 0.01
R3789:Lrpprc UTSW 17 85,078,956 (GRCm39) missense probably benign 0.25
R3848:Lrpprc UTSW 17 85,078,355 (GRCm39) missense probably benign 0.01
R3973:Lrpprc UTSW 17 85,078,269 (GRCm39) critical splice donor site probably null
R4111:Lrpprc UTSW 17 85,033,766 (GRCm39) missense probably benign 0.00
R4164:Lrpprc UTSW 17 85,038,617 (GRCm39) missense possibly damaging 0.47
R4331:Lrpprc UTSW 17 85,047,970 (GRCm39) critical splice donor site probably null
R4531:Lrpprc UTSW 17 85,020,215 (GRCm39) missense probably benign 0.01
R4832:Lrpprc UTSW 17 85,014,584 (GRCm39) missense probably benign 0.24
R4947:Lrpprc UTSW 17 85,078,966 (GRCm39) missense probably benign 0.02
R5134:Lrpprc UTSW 17 85,058,684 (GRCm39) missense probably benign 0.00
R5333:Lrpprc UTSW 17 85,097,821 (GRCm39) missense probably benign 0.01
R5950:Lrpprc UTSW 17 85,047,598 (GRCm39) missense possibly damaging 0.86
R5972:Lrpprc UTSW 17 85,020,250 (GRCm39) missense possibly damaging 0.88
R6185:Lrpprc UTSW 17 85,074,452 (GRCm39) missense probably benign
R6253:Lrpprc UTSW 17 85,048,065 (GRCm39) missense probably benign 0.00
R6488:Lrpprc UTSW 17 85,058,781 (GRCm39) missense probably damaging 1.00
R6911:Lrpprc UTSW 17 85,063,711 (GRCm39) missense possibly damaging 0.67
R6933:Lrpprc UTSW 17 85,030,131 (GRCm39) missense probably benign 0.42
R6955:Lrpprc UTSW 17 85,084,417 (GRCm39) missense probably damaging 0.98
R7448:Lrpprc UTSW 17 85,079,567 (GRCm39) missense probably damaging 0.99
R7727:Lrpprc UTSW 17 85,084,375 (GRCm39) missense probably benign 0.00
R8003:Lrpprc UTSW 17 85,059,745 (GRCm39) missense probably benign 0.01
R8178:Lrpprc UTSW 17 85,079,575 (GRCm39) missense probably damaging 1.00
R8310:Lrpprc UTSW 17 85,080,524 (GRCm39) missense probably damaging 1.00
R8322:Lrpprc UTSW 17 85,047,496 (GRCm39) critical splice donor site probably null
R8389:Lrpprc UTSW 17 85,080,742 (GRCm39) missense possibly damaging 0.79
R8560:Lrpprc UTSW 17 85,047,495 (GRCm39) splice site probably benign
R8777:Lrpprc UTSW 17 85,058,657 (GRCm39) missense probably benign 0.30
R8777-TAIL:Lrpprc UTSW 17 85,058,657 (GRCm39) missense probably benign 0.30
R8868:Lrpprc UTSW 17 85,078,920 (GRCm39) missense probably damaging 0.99
R8970:Lrpprc UTSW 17 85,074,483 (GRCm39) missense probably damaging 1.00
R9042:Lrpprc UTSW 17 85,059,736 (GRCm39) critical splice donor site probably null
R9493:Lrpprc UTSW 17 85,015,548 (GRCm39) missense probably damaging 0.99
R9664:Lrpprc UTSW 17 85,020,262 (GRCm39) missense probably damaging 0.99
X0026:Lrpprc UTSW 17 85,018,090 (GRCm39) missense probably benign 0.42
Z1088:Lrpprc UTSW 17 85,077,928 (GRCm39) critical splice acceptor site probably null
Z1088:Lrpprc UTSW 17 85,039,212 (GRCm39) nonsense probably null
Z1176:Lrpprc UTSW 17 85,077,859 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TCAAGGGTTCTAATCACCAGAG -3'
(R):5'- CTCGAAATCGGCATTATACACTAG -3'

Sequencing Primer
(F):5'- TCACCAGAGTATTTGCAGAGC -3'
(R):5'- AGAATTTACATTCCTGCTGGGC -3'
Posted On 2018-09-12