Mutagenetix > Incidental Mutation

Incidental Mutation 'R8389:Lrpprc'

647303

Institutional Source

Beutler Lab

Gene Symbol

Lrpprc

Ensembl Gene

ENSMUSG00000024120

Gene Name

leucine-rich PPR-motif containing

Synonyms

Lrp130, 3110001K13Rik

MMRRC Submission

067754-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8389 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85012675-85098214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85080742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 161 (V161D)

Ref Sequence

ENSEMBL: ENSMUSP00000107927 (fasta)

Gene Model

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

AlphaFold

Q6PB66

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112308
AA Change: V161D

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107927
Gene: ENSMUSG00000024120
AA Change: V161D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	C	T	1: 66,893,906 (GRCm39)	G83E	probably damaging	Het
Adamtsl2	A	G	2: 26,993,136 (GRCm39)	D722G	possibly damaging	Het
Akap11	A	T	14: 78,756,322 (GRCm39)	D25E		Het
Akr1c21	C	T	13: 4,626,278 (GRCm39)	R101W	probably damaging	Het
Ano2	T	C	6: 125,957,132 (GRCm39)	Y634H	probably damaging	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Cfap221	T	C	1: 119,851,301 (GRCm39)	E820G	probably damaging	Het
Chad	A	G	11: 94,458,718 (GRCm39)	D289G	probably benign	Het
Col4a2	C	A	8: 11,498,132 (GRCm39)	A1647E	probably damaging	Het
Dhx32	G	T	7: 133,326,935 (GRCm39)	T522K	possibly damaging	Het
Eloa	A	G	4: 135,733,622 (GRCm39)	V707A	probably benign	Het
Fam219a	A	G	4: 41,520,935 (GRCm39)	S109P	probably damaging	Het
Ftl1	A	T	7: 45,108,651 (GRCm39)	F36I	probably benign	Het
Furin	C	T	7: 80,040,627 (GRCm39)	R737Q	probably benign	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gpt	C	T	15: 76,583,242 (GRCm39)	T393M	probably damaging	Het
Greb1l	A	T	18: 10,529,613 (GRCm39)	D865V	probably benign	Het
Ifi207	GTT	GT	1: 173,557,016 (GRCm39)		probably null	Het
Klk1b11	G	A	7: 43,649,120 (GRCm39)	C219Y	probably damaging	Het
Lcn11	A	T	2: 25,669,043 (GRCm39)	D117V	probably damaging	Het
Lrrk2	T	C	15: 91,584,194 (GRCm39)	L318S	probably damaging	Het
Muc5b	A	G	7: 141,415,516 (GRCm39)	T2821A	possibly damaging	Het
Mysm1	A	G	4: 94,853,849 (GRCm39)	M250T	probably benign	Het
Nol12	A	G	15: 78,819,268 (GRCm39)	K27E	probably damaging	Het
Omg	T	A	11: 79,393,001 (GRCm39)	M286L	probably benign	Het
Or4c100	G	A	2: 88,355,931 (GRCm39)	M1I	probably null	Het
Or8g32	A	G	9: 39,305,912 (GRCm39)	K272R	probably damaging	Het
Pdyn	A	G	2: 129,530,357 (GRCm39)	L104P	probably benign	Het
Pira2	A	C	7: 3,846,888 (GRCm39)	L218R	probably damaging	Het
Pnpt1	A	T	11: 29,080,758 (GRCm39)	M1L	unknown	Het
Pofut2	C	T	10: 77,101,785 (GRCm39)	T274M	probably benign	Het
Pramel34	A	T	5: 93,785,587 (GRCm39)	F231Y	probably benign	Het
Rbm12b1	C	A	4: 12,146,363 (GRCm39)	D778E	probably damaging	Het
Srsf12	C	G	4: 33,226,070 (GRCm39)	P111R	probably damaging	Het
Tbc1d14	G	A	5: 36,687,792 (GRCm39)		probably benign	Het
Tcf23	A	G	5: 31,127,464 (GRCm39)	K89E	probably benign	Het
Tmem74	C	T	15: 43,730,315 (GRCm39)	G243R	probably damaging	Het
Ufd1	T	C	16: 18,639,853 (GRCm39)	V119A	possibly damaging	Het
Vmn2r72	A	T	7: 85,401,168 (GRCm39)	Y84N	probably damaging	Het
Zfp120	A	T	2: 149,959,327 (GRCm39)	C354S	probably damaging	Het
Zfp69	G	A	4: 120,806,549 (GRCm39)	T28I	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp959	T	C	17: 56,204,299 (GRCm39)	V112A	probably benign	Het
Zfr2	T	A	10: 81,081,323 (GRCm39)	W458R	probably benign	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
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
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'- AATGGGCTGCTTAGCATTTTC -3'
(R):5'- CCACTTTATAGGAATGCCTCTACC -3'

Sequencing Primer
(F):5'- ACAGCAGCAGTTACCTAC -3'
(R):5'- GAGAGTGCTCTTAACTGCTAAGCC -3'

Posted On

2020-09-02