Incidental Mutation 'R0448:Lrpprc'
ID 39484
Institutional Source Beutler Lab
Gene Symbol Lrpprc
Ensembl Gene ENSMUSG00000024120
Gene Name leucine-rich PPR-motif containing
Synonyms Lrp130, 3110001K13Rik
MMRRC Submission 038648-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0448 (G1)
Quality Score 220
Status Validated
Chromosome 17
Chromosomal Location 85012675-85098214 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85078322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 319 (Y319N)
Ref Sequence ENSEMBL: ENSMUSP00000107927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112308]
AlphaFold Q6PB66
Predicted Effect probably benign
Transcript: ENSMUST00000112308
AA Change: Y319N

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107927
Gene: ENSMUSG00000024120
AA Change: Y319N

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 noncoding transcript
Transcript: ENSMUST00000159222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161928
Meta Mutation Damage Score 0.1564 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 93.1%
Validation Efficiency 100% (74/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,218,687 (GRCm39) R232C probably damaging Het
Adam9 A G 8: 25,454,926 (GRCm39) S732P probably damaging Het
Add2 G A 6: 86,069,901 (GRCm39) V140I probably benign Het
Ahi1 G A 10: 20,847,974 (GRCm39) G461S probably damaging Het
Aoc1l2 A T 6: 48,909,991 (GRCm39) S643C probably damaging Het
Arhgef7 A G 8: 11,869,659 (GRCm39) T432A possibly damaging Het
Arsi T C 18: 61,050,374 (GRCm39) I419T probably damaging Het
Brca1 G A 11: 101,399,047 (GRCm39) P1515L possibly damaging Het
Brcc3 T A X: 74,493,647 (GRCm39) L222* probably null Het
Brpf3 A T 17: 29,025,010 (GRCm39) T28S probably benign Het
Cdc20b T A 13: 113,215,191 (GRCm39) V253E probably damaging Het
Cnot6l T A 5: 96,227,905 (GRCm39) S443C probably benign Het
Copg1 G A 6: 87,881,908 (GRCm39) A587T probably benign Het
Crebrf A G 17: 26,962,076 (GRCm39) D391G probably benign Het
Crocc A T 4: 140,769,502 (GRCm39) D283E probably damaging Het
Cryga T C 1: 65,142,318 (GRCm39) N25S probably benign Het
Csnk1g1 T C 9: 65,888,230 (GRCm39) F90L possibly damaging Het
Cyp2j6 A G 4: 96,433,965 (GRCm39) V115A probably benign Het
Cyp3a11 T C 5: 145,799,204 (GRCm39) I328V probably benign Het
Dchs1 C A 7: 105,415,134 (GRCm39) E683D probably benign Het
Dnah9 T C 11: 65,809,539 (GRCm39) probably benign Het
Dqx1 T C 6: 83,037,326 (GRCm39) S330P probably damaging Het
Epg5 A G 18: 78,066,580 (GRCm39) Y2160C probably damaging Het
Ercc5 T C 1: 44,213,100 (GRCm39) L742P probably damaging Het
Fcgbpl1 T C 7: 27,839,660 (GRCm39) I491T probably benign Het
Flt1 C T 5: 147,503,204 (GRCm39) probably benign Het
Grip2 A G 6: 91,756,194 (GRCm39) S498P probably damaging Het
H2-T22 A G 17: 36,353,278 (GRCm39) L14P possibly damaging Het
Hephl1 C T 9: 14,988,222 (GRCm39) G629S probably damaging Het
Hsdl2 T A 4: 59,606,523 (GRCm39) M162K unknown Het
Kcnh8 C A 17: 53,284,648 (GRCm39) probably null Het
Krt76 T C 15: 101,799,082 (GRCm39) Q201R probably damaging Het
Lrrk2 T G 15: 91,593,508 (GRCm39) I489R probably damaging Het
Mboat1 G T 13: 30,386,393 (GRCm39) D136Y probably damaging Het
Mcmdc2 T C 1: 10,010,767 (GRCm39) *682Q probably null Het
Msx2 C A 13: 53,622,431 (GRCm39) R193L probably damaging Het
Nfatc4 T G 14: 56,069,111 (GRCm39) D625E possibly damaging Het
Nup153 T C 13: 46,870,657 (GRCm39) E86G probably benign Het
Or2g7 G T 17: 38,378,563 (GRCm39) R167L probably benign Het
Or4k45 T A 2: 111,395,559 (GRCm39) I77F probably benign Het
Pard3b T C 1: 62,205,628 (GRCm39) L474P probably damaging Het
Pate11 T A 9: 36,388,412 (GRCm39) M79K probably benign Het
Pggt1b A T 18: 46,396,039 (GRCm39) probably benign Het
Pik3r2 A G 8: 71,224,688 (GRCm39) probably benign Het
Prr14 A G 7: 127,073,898 (GRCm39) probably benign Het
Rcbtb2 T C 14: 73,415,869 (GRCm39) probably benign Het
Rufy2 G A 10: 62,840,515 (GRCm39) D429N probably benign Het
S1pr5 T A 9: 21,155,503 (GRCm39) T308S probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Serpina12 A G 12: 104,004,354 (GRCm39) S93P probably benign Het
Serpinb1b T G 13: 33,273,675 (GRCm39) H123Q probably benign Het
Sftpc C T 14: 70,760,120 (GRCm39) V46I probably benign Het
Skint8 T A 4: 111,794,087 (GRCm39) V159D probably damaging Het
Slc25a11 T C 11: 70,536,405 (GRCm39) N134S probably benign Het
Slc25a24 T C 3: 109,064,332 (GRCm39) probably benign Het
Sorl1 C G 9: 41,915,384 (GRCm39) V1282L probably damaging Het
Sptan1 T A 2: 29,916,822 (GRCm39) I2170N probably damaging Het
Syne4 A G 7: 30,014,345 (GRCm39) probably benign Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tg C A 15: 66,636,291 (GRCm39) P626Q probably damaging Het
Thoc6 T A 17: 23,888,550 (GRCm39) D196V probably damaging Het
Tpi1 A G 6: 124,791,066 (GRCm39) F57S probably damaging Het
Tril A G 6: 53,794,793 (GRCm39) *810Q probably null Het
Trrap T A 5: 144,776,377 (GRCm39) V2972D possibly damaging Het
Ttn A T 2: 76,591,624 (GRCm39) V12688E probably damaging Het
Ttn T C 2: 76,551,283 (GRCm39) M31370V probably damaging Het
Txndc11 A G 16: 10,909,625 (GRCm39) F307S probably damaging Het
Vmn1r40 C T 6: 89,691,642 (GRCm39) S153L probably benign Het
Vmn2r95 A G 17: 18,672,005 (GRCm39) T581A possibly damaging Het
Wdtc1 A G 4: 133,024,811 (GRCm39) F462S probably damaging Het
Zfp101 A G 17: 33,601,295 (GRCm39) S154P possibly damaging Het
Zmym6 A G 4: 127,002,487 (GRCm39) N481D 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
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
R6807:Lrpprc UTSW 17 85,056,531 (GRCm39) missense possibly damaging 0.93
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'- AAGAGTAACCCCATTCCTGCTTGC -3'
(R):5'- GGCCTTGTTGAATGCACATGCTG -3'

Sequencing Primer
(F):5'- TTGCACCACCCAGGTACTC -3'
(R):5'- tgggaggcagaggcagg -3'
Posted On 2013-05-23