Mutagenetix > Incidental Mutation

Incidental Mutation 'R2169:Lrpprc'

235693

Institutional Source

Beutler Lab

Gene Symbol

Lrpprc

Ensembl Gene

ENSMUSG00000024120

Gene Name

leucine-rich PPR-motif containing

Synonyms

Lrp130, 3110001K13Rik

MMRRC Submission

040172-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85012675-85098214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85077505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 394 (R394Q)

Ref Sequence

ENSEMBL: ENSMUSP00000107927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112308]

AlphaFold

Q6PB66

Predicted Effect

probably benign
Transcript: ENSMUST00000112308
AA Change: R394Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000107927
Gene: ENSMUSG00000024120
AA Change: R394Q

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,622,349 (GRCm39)	T606A	probably benign	Het
Adtrp	T	A	13: 41,920,905 (GRCm39)	S221C	possibly damaging	Het
Ap1g2	T	A	14: 55,336,797 (GRCm39)		probably null	Het
Arhgef5	A	T	6: 43,251,354 (GRCm39)	M702L	probably benign	Het
Axdnd1	A	G	1: 156,245,879 (GRCm39)	V34A	probably damaging	Het
Ccdc154	T	A	17: 25,389,897 (GRCm39)	V509E	probably damaging	Het
Cttnbp2	C	T	6: 18,426,096 (GRCm39)	D761N	probably benign	Het
Ddx18	A	T	1: 121,486,138 (GRCm39)		probably null	Het
Dipk1a	A	T	5: 108,057,325 (GRCm39)	L411*	probably null	Het
Fam241b	A	T	10: 61,945,745 (GRCm39)	I4N	probably damaging	Het
Gm5800	T	C	14: 51,951,135 (GRCm39)	K155E	possibly damaging	Het
Hemgn	T	A	4: 46,396,417 (GRCm39)	H273L	possibly damaging	Het
Hsp90aa1	A	G	12: 110,659,168 (GRCm39)	V543A	probably damaging	Het
Hspa1l	A	G	17: 35,196,299 (GRCm39)	K113E	probably benign	Het
Hspb2	A	G	9: 50,663,015 (GRCm39)	I38T	probably damaging	Het
Htt	A	T	5: 35,034,819 (GRCm39)	E2021D	probably benign	Het
Lrrc8b	T	C	5: 105,629,753 (GRCm39)	Y700H	probably damaging	Het
Mefv	A	G	16: 3,528,752 (GRCm39)	V593A	probably benign	Het
Mrgprh	C	T	17: 13,095,856 (GRCm39)	T32M	probably benign	Het
Mrpl18	A	G	17: 13,132,655 (GRCm39)		probably null	Het
Muc1	A	G	3: 89,138,903 (GRCm39)	E504G	probably damaging	Het
Ndufa13	G	A	8: 70,347,169 (GRCm39)	A77V	probably damaging	Het
Or8g33	A	G	9: 39,337,654 (GRCm39)	F238L	possibly damaging	Het
Pgbd5	T	A	8: 125,111,363 (GRCm39)		probably null	Het
Pgm5	T	A	19: 24,812,179 (GRCm39)	I118F	probably damaging	Het
Phyhip	T	C	14: 70,704,572 (GRCm39)	F264L	possibly damaging	Het
Polr3e	C	T	7: 120,531,360 (GRCm39)	R176W	probably damaging	Het
Prkacb	C	T	3: 146,452,438 (GRCm39)		probably null	Het
Rab19	T	G	6: 39,360,975 (GRCm39)	V41G	possibly damaging	Het
Rapgef5	A	G	12: 117,679,130 (GRCm39)	Y234C	probably benign	Het
Slc26a5	T	C	5: 22,018,863 (GRCm39)	T659A	probably damaging	Het
Slc6a2	G	A	8: 93,720,729 (GRCm39)	V449I	probably benign	Het
Stab2	A	G	10: 86,723,726 (GRCm39)	S1490P	probably damaging	Het
Tln1	T	C	4: 43,548,005 (GRCm39)	T713A	probably damaging	Het
Tmc6	A	T	11: 117,659,932 (GRCm39)	L732Q	probably damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Vmn1r203	A	T	13: 22,708,905 (GRCm39)	K229*	probably null	Het
Xylt1	G	A	7: 117,266,660 (GRCm39)	G893R	probably damaging	Het
Ythdf1	A	T	2: 180,553,907 (GRCm39)	S69T	probably damaging	Het
Zfp114	C	T	7: 23,880,509 (GRCm39)	T285I	probably benign	Het
Zfp458	T	C	13: 67,405,113 (GRCm39)	E439G	probably damaging	Het
Zfp65	G	A	13: 67,858,499 (GRCm39)	T55I	probably damaging	Het
Zmym1	C	T	4: 126,947,996 (GRCm39)		probably null	Het

Other mutations in Lrpprc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TGTTAGAAATCACAGACCACGTC -3'
(R):5'- TTTGCGGCACTGTGTGACTC -3'

Sequencing Primer
(F):5'- GGCTAGCTCAGACACACTTATTAATG -3'
(R):5'- ACTCTGGATTTGGTATTCTGCC -3'

Posted On

2014-10-01