Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Lrpprc'

595595

Institutional Source

Beutler Lab

Gene Symbol

Lrpprc

Ensembl Gene

ENSMUSG00000024120

Gene Name

leucine-rich PPR-motif containing

Synonyms

3110001K13Rik, Lrp130

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_028233.2; MGI:1919666

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84705247-84790789 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84776947 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 113 (S113G)

Ref Sequence

ENSEMBL: ENSMUSP00000107927 (fasta)

Gene Model

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

AlphaFold

Q6PB66

Predicted Effect

probably benign
Transcript: ENSMUST00000112308
AA Change: S113G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000107927
Gene: ENSMUSG00000024120
AA Change: S113G

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

MGI Phenotype

Strain: 3857306; 5438913
Lethality: E10-E12
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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	A	6: 41,033,193	R69L	probably benign	Het
Adamts5	A	T	16: 85,899,966	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,870,011	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,545,275	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,225,187	F118Y	probably benign	Het
Bcl6	A	G	16: 23,971,413		probably null	Het
Cc2d2b	T	A	19: 40,756,530	L31Q	probably benign	Het
Cd5l	G	T	3: 87,367,855	E234*	probably null	Het
Cfap65	T	C	1: 74,926,625	T409A	probably benign	Het
Chst5	A	T	8: 111,890,925	I21N	probably benign	Het
Cldn20	T	C	17: 3,532,755	Y68H	probably benign	Het
Col4a4	T	C	1: 82,528,793	M269V	unknown	Het
Dgkh	A	G	14: 78,595,145		probably null	Het
Dpp6	A	G	5: 27,451,244	T166A	probably benign	Het
Drosha	A	G	15: 12,881,645	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,854,273	K350N	probably damaging	Het
Fsd1	T	G	17: 55,988,150	D46E	probably benign	Het
Gabra1	T	C	11: 42,133,591	D419G	probably damaging	Het
Golga4	T	A	9: 118,548,702	D458E	probably damaging	Het
Grm6	C	A	11: 50,851,542	A134E	probably benign	Het
Ikzf1	T	A	11: 11,748,339	S63R	probably damaging	Het
Ilvbl	G	A	10: 78,576,666	V74I	probably benign	Het
Kcng2	C	T	18: 80,296,090	V328M	probably benign	Het
Kpna7	T	C	5: 145,005,045	E145G	probably benign	Het
Krt81	A	G	15: 101,459,567	V428A	probably damaging	Het
Lalba	T	C	15: 98,482,668	M2V	probably benign	Het
Mboat1	A	C	13: 30,226,306	M249L	probably benign	Het
Meltf	T	C	16: 31,883,794	V113A	probably damaging	Het
Muc16	T	A	9: 18,660,242	H327L	unknown	Het
Myh1	A	G	11: 67,215,922	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Naga	C	A	15: 82,330,147	V388L	probably benign	Het
Nfkb1	A	C	3: 135,585,401	M957R	possibly damaging	Het
Nol12	C	A	15: 78,940,593	S157*	probably null	Het
Olfr1000	A	G	2: 85,608,407	F168L	possibly damaging	Het
Olfr1038-ps	A	T	2: 86,122,496	D191V	possibly damaging	Het
Olfr272	A	G	4: 52,911,368	V142A	possibly damaging	Het
Pcdhga5	T	C	18: 37,695,045	V182A	probably benign	Het
Pik3r4	A	G	9: 105,669,882	E953G	probably damaging	Het
Piwil2	C	T	14: 70,394,057	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,944,109	H157R	probably damaging	Het
Prrg4	A	T	2: 104,839,378	F131L	probably benign	Het
Rab28	A	G	5: 41,707,970	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,455,438	Q209K	probably benign	Het
Schip1	G	A	3: 68,064,984	D15N	probably benign	Het
Serpina3f	T	G	12: 104,218,218	M207R	probably benign	Het
Sgsm1	A	T	5: 113,274,327	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 61,989,580	I471F	probably benign	Het
Slamf1	G	A	1: 171,774,899	V65I	possibly damaging	Het
Slit3	T	C	11: 35,684,044	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,373,434	K344N	probably damaging	Het
Sorl1	A	G	9: 41,984,526	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,215,675	R228C	probably damaging	Het
Sv2c	A	G	13: 95,976,695	I582T	possibly damaging	Het
Tamm41	C	T	6: 115,016,178	V205M	probably damaging	Het
Tmem2	C	T	19: 21,829,957	L917F	probably benign	Het
Trpm2	T	C	10: 77,925,789	D1009G	probably benign	Het
Trpm6	T	C	19: 18,854,249	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,839,274	V147I	possibly damaging	Het
Uba2	C	T	7: 34,150,850	A393T	probably damaging	Het
Ubn2	T	A	6: 38,463,938	N416K	probably benign	Het
Uevld	T	C	7: 46,943,805	N233S	probably benign	Het
Upp2	G	A	2: 58,774,148	M142I	possibly damaging	Het
Vps52	T	A	17: 33,962,134	V450D	probably benign	Het
Wdr31	A	T	4: 62,460,636	F118Y	probably damaging	Het
Zcchc6	A	G	13: 59,799,682	F942L	probably benign	Het
Zfp110	T	A	7: 12,848,995	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,145,643	V143D	probably damaging	Het
Zfp950	T	C	19: 61,119,941	I235V	probably benign	Het

Other mutations in Lrpprc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Lrpprc	APN	17	84750525	missense	possibly damaging	0.91
IGL01319:Lrpprc	APN	17	84705412	utr 3 prime	probably benign
IGL01380:Lrpprc	APN	17	84722730	missense	probably benign
IGL01560:Lrpprc	APN	17	84708119	missense	probably benign	0.07
IGL01582:Lrpprc	APN	17	84754543	missense	probably null	0.00
IGL01996:Lrpprc	APN	17	84773270	missense	probably benign
IGL02109:Lrpprc	APN	17	84726570	nonsense	probably null
IGL02163:Lrpprc	APN	17	84753472	missense	probably damaging	0.97
IGL02248:Lrpprc	APN	17	84771467	missense	probably damaging	0.99
IGL02503:Lrpprc	APN	17	84726339	missense	probably benign
IGL02545:Lrpprc	APN	17	84775425	missense	probably benign
IGL02570:Lrpprc	APN	17	84750553	missense	probably damaging	1.00
IGL02636:Lrpprc	APN	17	84753104	unclassified	probably benign
IGL02943:Lrpprc	APN	17	84771450	missense	probably benign	0.00
IGL03008:Lrpprc	APN	17	84751247	missense	probably benign	0.05
elusory	UTSW	17	84712787	missense	probably benign	0.01
phantom	UTSW	17	84772147	missense	probably damaging	1.00
R6807_Lrpprc_629	UTSW	17	84749103	missense	possibly damaging	0.93
Stereotype	UTSW	17	84767055	missense	probably damaging	1.00
thus	UTSW	17	84770927	missense	probably benign	0.01
P0023:Lrpprc	UTSW	17	84726338	missense	probably benign	0.00
R0027:Lrpprc	UTSW	17	84767007	nonsense	probably null
R0027:Lrpprc	UTSW	17	84767007	nonsense	probably null
R0302:Lrpprc	UTSW	17	84740078	missense	possibly damaging	0.76
R0389:Lrpprc	UTSW	17	84753112	critical splice donor site	probably null
R0448:Lrpprc	UTSW	17	84770894	missense	probably benign	0.09
R1396:Lrpprc	UTSW	17	84726303	missense	possibly damaging	0.68
R1759:Lrpprc	UTSW	17	84740081	missense	probably damaging	1.00
R2019:Lrpprc	UTSW	17	84752331	missense	possibly damaging	0.56
R2169:Lrpprc	UTSW	17	84770077	missense	probably benign	0.00
R2312:Lrpprc	UTSW	17	84773258	missense	probably damaging	0.96
R2319:Lrpprc	UTSW	17	84726390	missense	probably benign
R2568:Lrpprc	UTSW	17	84726649	missense	probably damaging	1.00
R3013:Lrpprc	UTSW	17	84767069	missense	probably benign	0.04
R3620:Lrpprc	UTSW	17	84770024	missense	probably benign	0.01
R3789:Lrpprc	UTSW	17	84771528	missense	probably benign	0.25
R3848:Lrpprc	UTSW	17	84770927	missense	probably benign	0.01
R3973:Lrpprc	UTSW	17	84770841	critical splice donor site	probably null
R4111:Lrpprc	UTSW	17	84726338	missense	probably benign	0.00
R4164:Lrpprc	UTSW	17	84731189	missense	possibly damaging	0.47
R4331:Lrpprc	UTSW	17	84740542	critical splice donor site	probably null
R4531:Lrpprc	UTSW	17	84712787	missense	probably benign	0.01
R4832:Lrpprc	UTSW	17	84707156	missense	probably benign	0.24
R4947:Lrpprc	UTSW	17	84771538	missense	probably benign	0.02
R5134:Lrpprc	UTSW	17	84751256	missense	probably benign	0.00
R5333:Lrpprc	UTSW	17	84790393	missense	probably benign	0.01
R5950:Lrpprc	UTSW	17	84740170	missense	possibly damaging	0.86
R5972:Lrpprc	UTSW	17	84712822	missense	possibly damaging	0.88
R6185:Lrpprc	UTSW	17	84767024	missense	probably benign
R6253:Lrpprc	UTSW	17	84740637	missense	probably benign	0.00
R6488:Lrpprc	UTSW	17	84751353	missense	probably damaging	1.00
R6807:Lrpprc	UTSW	17	84749103	missense	possibly damaging	0.93
R6911:Lrpprc	UTSW	17	84756283	missense	possibly damaging	0.67
R6933:Lrpprc	UTSW	17	84722703	missense	probably benign	0.42
R6955:Lrpprc	UTSW	17	84776989	missense	probably damaging	0.98
R7448:Lrpprc	UTSW	17	84772139	missense	probably damaging	0.99
R8003:Lrpprc	UTSW	17	84752317	missense	probably benign	0.01
R8178:Lrpprc	UTSW	17	84772147	missense	probably damaging	1.00
R8310:Lrpprc	UTSW	17	84773096	missense	probably damaging	1.00
R8322:Lrpprc	UTSW	17	84740068	critical splice donor site	probably null
R8389:Lrpprc	UTSW	17	84773314	missense	possibly damaging	0.79
R8560:Lrpprc	UTSW	17	84740067	splice site	probably benign
R8777:Lrpprc	UTSW	17	84751229	missense	probably benign	0.30
R8777-TAIL:Lrpprc	UTSW	17	84751229	missense	probably benign	0.30
R8868:Lrpprc	UTSW	17	84771492	missense	probably damaging	0.99
R8970:Lrpprc	UTSW	17	84767055	missense	probably damaging	1.00
R9042:Lrpprc	UTSW	17	84752308	critical splice donor site	probably null
R9493:Lrpprc	UTSW	17	84708120	missense	probably damaging	0.99
R9664:Lrpprc	UTSW	17	84712834	missense	probably damaging	0.99
X0026:Lrpprc	UTSW	17	84710662	missense	probably benign	0.42
Z1088:Lrpprc	UTSW	17	84731784	nonsense	probably null
Z1088:Lrpprc	UTSW	17	84770500	critical splice acceptor site	probably null
Z1176:Lrpprc	UTSW	17	84770431	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GACAGCAGGATCAGAGTCAC -3'
(R):5'- CAGATTGTATGCCATCGTTGC -3'

Sequencing Primer
(F):5'- ACAGTGACAGCTGACAATGTC -3'
(R):5'- CATCGTTGCTGAGAAAAGGGATCTTC -3'

Posted On

2019-11-12