Mutagenetix > Incidental Mutation

Incidental Mutation 'R0389:Lrpprc'

31544

Institutional Source

Beutler Lab

Gene Symbol

Lrpprc

Ensembl Gene

ENSMUSG00000024120

Gene Name

leucine-rich PPR-motif containing

Synonyms

Lrp130, 3110001K13Rik

MMRRC Submission

038595-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0389 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85012675-85098214 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 85060540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107927 (fasta)

Gene Model

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

AlphaFold

Q6PB66

Predicted Effect

probably null
Transcript: ENSMUST00000112308

SMART Domains

Protein: ENSMUSP00000107927
Gene: ENSMUSG00000024120

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

probably benign
Transcript: ENSMUST00000160011

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160414

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.5%

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	G	A	3: 121,465,053 (GRCm39)	E30K	unknown	Het
Abi3bp	A	T	16: 56,491,670 (GRCm39)	T1319S	possibly damaging	Het
Adam18	T	C	8: 25,119,653 (GRCm39)		probably null	Het
Adgre1	G	A	17: 57,713,839 (GRCm39)	D175N	possibly damaging	Het
Adgrf1	T	C	17: 43,614,679 (GRCm39)		probably null	Het
Ankhd1	A	G	18: 36,777,652 (GRCm39)	S1612G	possibly damaging	Het
Anks1	A	G	17: 28,214,926 (GRCm39)	R458G	possibly damaging	Het
Cacna1g	C	T	11: 94,350,523 (GRCm39)	V441M	probably damaging	Het
Cadps2	A	T	6: 23,321,781 (GRCm39)	V1037E	possibly damaging	Het
Casz1	T	C	4: 149,033,368 (GRCm39)	V1380A	possibly damaging	Het
Cenpq	T	C	17: 41,244,085 (GRCm39)		probably benign	Het
Chrac1	T	C	15: 72,965,376 (GRCm39)	I93T	possibly damaging	Het
Cntnap2	T	A	6: 45,986,571 (GRCm39)	S359T	probably benign	Het
Col6a6	C	A	9: 105,661,403 (GRCm39)	M235I	probably benign	Het
Crat	T	C	2: 30,293,640 (GRCm39)		probably benign	Het
Cyp1a2	T	C	9: 57,589,308 (GRCm39)	N169D	probably benign	Het
Dennd1c	T	A	17: 57,374,649 (GRCm39)	T499S	probably benign	Het
Dst	A	G	1: 34,333,631 (GRCm39)		probably null	Het
Dync2h1	G	T	9: 7,167,244 (GRCm39)		probably null	Het
Eif3h	C	A	15: 51,662,660 (GRCm39)	V129F	probably damaging	Het
Eno2	A	G	6: 124,739,654 (GRCm39)	F380L	probably damaging	Het
Ergic2	T	A	6: 148,084,700 (GRCm39)	I34F	probably benign	Het
Ergic3	G	A	2: 155,858,707 (GRCm39)	V278M	probably benign	Het
Fam185a	C	T	5: 21,664,283 (GRCm39)	T339M	probably damaging	Het
Fam20b	A	T	1: 156,509,023 (GRCm39)	D396E	probably benign	Het
Fasn	G	T	11: 120,707,008 (GRCm39)	D881E	probably damaging	Het
Fat1	C	A	8: 45,403,385 (GRCm39)	H45Q	probably benign	Het
Fbxw16	A	T	9: 109,261,550 (GRCm39)	C439S	probably benign	Het
Garin1a	T	A	6: 29,281,391 (GRCm39)	V43E	possibly damaging	Het
Gba2	A	T	4: 43,570,832 (GRCm39)	F280Y	probably damaging	Het
Gfm1	A	G	3: 67,365,251 (GRCm39)	I517V	probably benign	Het
Gng13	C	T	17: 25,937,696 (GRCm39)	Q8*	probably null	Het
Golga1	A	T	2: 38,908,453 (GRCm39)	S749T	probably damaging	Het
Gphn	A	T	12: 78,637,433 (GRCm39)	I381F	probably damaging	Het
Grm3	T	C	5: 9,554,794 (GRCm39)	N833D	probably damaging	Het
Gstt2	G	T	10: 75,668,266 (GRCm39)	T163K	probably damaging	Het
Gusb	A	T	5: 130,026,927 (GRCm39)	V388E	probably damaging	Het
Hcrtr2	A	T	9: 76,153,662 (GRCm39)	Y243*	probably null	Het
Hspg2	A	G	4: 137,242,734 (GRCm39)	T650A	possibly damaging	Het
Ints2	C	T	11: 86,139,677 (GRCm39)	V306I	probably damaging	Het
Itga1	T	A	13: 115,128,996 (GRCm39)	D554V	probably benign	Het
Itgam	C	T	7: 127,680,806 (GRCm39)	A245V	probably damaging	Het
Kcnk15	A	G	2: 163,700,243 (GRCm39)	T161A	probably benign	Het
Klhl18	A	T	9: 110,257,749 (GRCm39)	C564S	probably benign	Het
Krt40	T	A	11: 99,432,540 (GRCm39)	R159*	probably null	Het
L3mbtl4	G	A	17: 68,762,775 (GRCm39)	V103M	probably damaging	Het
Lnx2	C	A	5: 146,955,850 (GRCm39)	V649L	possibly damaging	Het
Lpp	A	T	16: 24,426,991 (GRCm39)	Q39H	probably damaging	Het
Map3k19	A	T	1: 127,750,152 (GRCm39)	N1066K	probably benign	Het
Mbtps2	G	T	X: 156,351,364 (GRCm39)	T134K	probably benign	Het
Mfng	C	T	15: 78,648,637 (GRCm39)	V147M	possibly damaging	Het
Mks1	T	C	11: 87,748,754 (GRCm39)	S273P	probably benign	Het
Myh2	T	C	11: 67,071,647 (GRCm39)	L488P	probably damaging	Het
Myo15a	A	G	11: 60,369,364 (GRCm39)	N708S	probably benign	Het
Myo6	A	T	9: 80,199,748 (GRCm39)	N1019I	probably damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Ncoa1	T	G	12: 4,345,976 (GRCm39)	N457T	probably benign	Het
Neb	T	C	2: 52,051,489 (GRCm39)		probably null	Het
Nlrp4e	C	A	7: 23,054,628 (GRCm39)	N927K	probably damaging	Het
Npffr2	T	C	5: 89,730,613 (GRCm39)	M181T	probably benign	Het
Nxf7	A	T	X: 134,485,132 (GRCm39)	C495S	possibly damaging	Het
Oas1g	T	C	5: 121,025,592 (GRCm39)	T12A	probably benign	Het
Or11g2	T	A	14: 50,856,036 (GRCm39)	L119Q	probably damaging	Het
Or1e17	T	A	11: 73,831,879 (GRCm39)	V269E	probably benign	Het
Or2g7	C	G	17: 38,378,562 (GRCm39)	R167G	possibly damaging	Het
Or52s1b	A	T	7: 102,822,490 (GRCm39)	V118E	possibly damaging	Het
Or5p60	A	G	7: 107,724,023 (GRCm39)	V149A	probably benign	Het
Papln	C	T	12: 83,830,153 (GRCm39)	Q1008*	probably null	Het
Pcdhb10	A	C	18: 37,545,485 (GRCm39)	D187A	probably damaging	Het
Phf2	T	A	13: 48,957,965 (GRCm39)	E1016D	unknown	Het
Phf8	T	A	X: 150,335,618 (GRCm39)	D197E	probably benign	Het
Pikfyve	A	G	1: 65,235,865 (GRCm39)	H179R	probably damaging	Het
Prkcz	T	A	4: 155,353,597 (GRCm39)	D250V	probably damaging	Het
Prpf4	A	G	4: 62,340,842 (GRCm39)	Y419C	probably damaging	Het
Prr15l	C	A	11: 96,825,440 (GRCm39)	Y23*	probably null	Het
Prr5	T	A	15: 84,587,152 (GRCm39)	S301T	probably benign	Het
Psg16	T	A	7: 16,829,088 (GRCm39)	I224N	probably benign	Het
Radil	A	G	5: 142,529,226 (GRCm39)	F186L	probably damaging	Het
Reg3g	A	T	6: 78,445,544 (GRCm39)	M1K	probably null	Het
Rps6ka3	A	G	X: 158,100,963 (GRCm39)	Y76C	probably damaging	Het
Rtl1	C	T	12: 109,556,797 (GRCm39)	V1681I	possibly damaging	Het
Sfmbt1	C	T	14: 30,533,464 (GRCm39)	R614C	probably damaging	Het
Slc12a4	A	G	8: 106,678,599 (GRCm39)	S244P	probably benign	Het
Sp140l2	T	A	1: 85,247,773 (GRCm39)	N5Y	probably benign	Het
Sptbn1	T	C	11: 30,089,250 (GRCm39)	T671A	possibly damaging	Het
Supt16	A	T	14: 52,411,570 (GRCm39)	N604K	probably damaging	Het
Synj2	G	A	17: 6,080,058 (GRCm39)	V1096I	probably benign	Het
Tas2r129	G	T	6: 132,928,159 (GRCm39)	C32F	probably benign	Het
Tbc1d25	T	C	X: 8,039,108 (GRCm39)	Y140C	probably damaging	Het
Tdrd7	A	G	4: 46,016,987 (GRCm39)	D709G	probably benign	Het
Tfap2d	C	T	1: 19,174,591 (GRCm39)	R15C	possibly damaging	Het
Tgfbi	C	A	13: 56,777,515 (GRCm39)	T333N	probably benign	Het
Tnk1	T	C	11: 69,746,508 (GRCm39)	Y235C	probably damaging	Het
Ttc17	A	G	2: 94,208,439 (GRCm39)	F144S	probably benign	Het
Twnk	G	T	19: 44,996,578 (GRCm39)	G337V	possibly damaging	Het
Unc13a	A	G	8: 72,110,676 (GRCm39)	F464L	probably benign	Het
Usp17le	C	A	7: 104,417,667 (GRCm39)	A492S	probably damaging	Het
Vmn1r213	A	T	13: 23,195,932 (GRCm39)	M172L	probably benign	Het
Vmn1r71	G	A	7: 10,482,238 (GRCm39)	T84I	probably benign	Het
Vmn2r109	C	T	17: 20,761,336 (GRCm39)	V674M	probably damaging	Het
Vmn2r19	A	T	6: 123,312,945 (GRCm39)	I672F	possibly damaging	Het
Vmn2r77	T	C	7: 86,450,702 (GRCm39)	V196A	probably benign	Het
Xdh	T	A	17: 74,205,357 (GRCm39)	H1036L	probably damaging	Het
Zfp930	T	A	8: 69,680,948 (GRCm39)	Y214*	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
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
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'- TCTCAGAGACAGACAAGATCCCTTGC -3'
(R):5'- ACCCGGACTGCTTCTCAATGACAC -3'

Sequencing Primer
(F):5'- TCTCTGTCAACCAGAACCTTAATATC -3'
(R):5'- TGGTTGTCTCAAACTCAGCG -3'

Posted On

2013-04-24