Incidental Mutation 'R0027:Lrpprc'
ID |
44544 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrpprc
|
Ensembl Gene |
ENSMUSG00000024120 |
Gene Name |
leucine-rich PPR-motif containing |
Synonyms |
Lrp130, 3110001K13Rik |
MMRRC Submission |
038322-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0027 (G1)
of strain
730
|
Quality Score |
198 |
Status
|
Validated
(trace)
|
Chromosome |
17 |
Chromosomal Location |
85012675-85098214 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 85074435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 491
(R491*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112308]
|
AlphaFold |
Q6PB66 |
Predicted Effect |
probably null
Transcript: ENSMUST00000112308
AA Change: R491*
|
SMART Domains |
Protein: ENSMUSP00000107927 Gene: ENSMUSG00000024120 AA Change: R491*
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
|
Meta Mutation Damage Score |
0.9642 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
Validation Efficiency |
98% (65/66) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
A |
T |
15: 11,285,959 (GRCm39) |
I723F |
probably damaging |
Het |
Anapc1 |
G |
T |
2: 128,483,431 (GRCm39) |
D1221E |
possibly damaging |
Het |
Arhgef28 |
T |
A |
13: 98,082,204 (GRCm39) |
E1201V |
possibly damaging |
Het |
Capn12 |
T |
A |
7: 28,581,385 (GRCm39) |
H79Q |
probably benign |
Het |
Caprin1 |
A |
T |
2: 103,605,925 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
T |
A |
14: 55,731,860 (GRCm39) |
F196Y |
probably damaging |
Het |
Casp8ap2 |
A |
G |
4: 32,643,810 (GRCm39) |
H961R |
probably benign |
Het |
Cdkl3 |
C |
T |
11: 51,923,176 (GRCm39) |
|
probably benign |
Het |
Cic |
T |
A |
7: 24,986,565 (GRCm39) |
S1299T |
probably damaging |
Het |
Cic |
C |
A |
7: 24,986,566 (GRCm39) |
S1299Y |
probably damaging |
Het |
Col13a1 |
A |
G |
10: 61,685,940 (GRCm39) |
L684P |
unknown |
Het |
D430041D05Rik |
A |
T |
2: 104,085,389 (GRCm39) |
F1053L |
probably benign |
Het |
Dab1 |
T |
C |
4: 104,561,396 (GRCm39) |
|
probably benign |
Het |
Dmxl1 |
A |
T |
18: 50,090,362 (GRCm39) |
|
probably benign |
Het |
Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
Eml1 |
T |
C |
12: 108,502,557 (GRCm39) |
C708R |
possibly damaging |
Het |
Fam131b |
T |
A |
6: 42,295,182 (GRCm39) |
M304L |
probably benign |
Het |
Foxk1 |
A |
T |
5: 142,436,095 (GRCm39) |
I321F |
probably damaging |
Het |
Gm10306 |
C |
T |
4: 94,445,027 (GRCm39) |
|
probably benign |
Het |
Gm10985 |
TA |
TANA |
3: 53,752,677 (GRCm39) |
|
probably null |
Het |
Gse1 |
T |
C |
8: 121,293,285 (GRCm39) |
|
probably benign |
Het |
Hcn3 |
A |
G |
3: 89,067,132 (GRCm39) |
S79P |
probably damaging |
Het |
Hspa4 |
T |
A |
11: 53,174,412 (GRCm39) |
M203L |
probably benign |
Het |
Ints15 |
G |
A |
5: 143,293,817 (GRCm39) |
T220I |
probably damaging |
Het |
Kctd7 |
G |
A |
5: 130,181,414 (GRCm39) |
R279H |
probably damaging |
Het |
Kif11 |
C |
T |
19: 37,395,431 (GRCm39) |
|
probably benign |
Het |
Klf13 |
T |
C |
7: 63,541,509 (GRCm39) |
N206S |
probably benign |
Het |
Kpna7 |
A |
T |
5: 144,926,507 (GRCm39) |
Y482N |
probably damaging |
Het |
Lamc1 |
T |
C |
1: 153,138,329 (GRCm39) |
Y175C |
probably damaging |
Het |
Madd |
T |
A |
2: 90,982,894 (GRCm39) |
I1350F |
probably damaging |
Het |
Mbtd1 |
T |
C |
11: 93,815,375 (GRCm39) |
V321A |
possibly damaging |
Het |
Mon2 |
G |
A |
10: 122,871,953 (GRCm39) |
S357L |
possibly damaging |
Het |
Ndst3 |
A |
G |
3: 123,465,162 (GRCm39) |
V270A |
probably damaging |
Het |
Nlrp2 |
T |
C |
7: 5,325,447 (GRCm39) |
T742A |
probably damaging |
Het |
Nopchap1 |
G |
A |
10: 83,200,393 (GRCm39) |
|
probably benign |
Het |
Or6d14 |
T |
C |
6: 116,533,910 (GRCm39) |
S175P |
probably damaging |
Het |
Papola |
A |
C |
12: 105,799,395 (GRCm39) |
S675R |
probably benign |
Het |
Pcdh9 |
T |
A |
14: 94,126,081 (GRCm39) |
I30F |
probably null |
Het |
Prl6a1 |
T |
A |
13: 27,502,011 (GRCm39) |
L126Q |
probably damaging |
Het |
Prr29 |
A |
G |
11: 106,267,102 (GRCm39) |
E89G |
possibly damaging |
Het |
Psmd1 |
T |
C |
1: 86,021,987 (GRCm39) |
|
probably benign |
Het |
Rad9b |
A |
G |
5: 122,489,786 (GRCm39) |
|
probably benign |
Het |
Rest |
T |
C |
5: 77,430,398 (GRCm39) |
V939A |
probably benign |
Het |
Rnf135 |
T |
A |
11: 80,084,768 (GRCm39) |
S180R |
probably benign |
Het |
Sarm1 |
C |
A |
11: 78,378,917 (GRCm39) |
R376L |
probably damaging |
Het |
Scap |
C |
A |
9: 110,208,798 (GRCm39) |
P613Q |
probably benign |
Het |
Scube3 |
C |
T |
17: 28,383,331 (GRCm39) |
R374* |
probably null |
Het |
Setx |
T |
G |
2: 29,029,233 (GRCm39) |
V167G |
probably damaging |
Het |
Snrnp40 |
T |
A |
4: 130,262,066 (GRCm39) |
H151Q |
probably damaging |
Het |
Sox21 |
G |
T |
14: 118,473,029 (GRCm39) |
H7N |
probably benign |
Het |
Stard9 |
A |
T |
2: 120,533,982 (GRCm39) |
Q3413L |
probably benign |
Het |
Sycp1 |
A |
G |
3: 102,803,226 (GRCm39) |
V528A |
probably benign |
Het |
Tcl1b3 |
A |
T |
12: 105,157,498 (GRCm39) |
S47C |
probably damaging |
Het |
Treml4 |
T |
C |
17: 48,571,962 (GRCm39) |
S122P |
possibly damaging |
Het |
Trip11 |
C |
T |
12: 101,851,428 (GRCm39) |
A879T |
probably benign |
Het |
Ubr4 |
C |
A |
4: 139,127,704 (GRCm39) |
N567K |
probably damaging |
Het |
Zan |
T |
C |
5: 137,404,781 (GRCm39) |
|
probably benign |
Het |
Zfp804a |
G |
A |
2: 82,087,544 (GRCm39) |
D458N |
probably damaging |
Het |
Zic2 |
T |
C |
14: 122,713,755 (GRCm39) |
M223T |
possibly damaging |
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 |
|
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 |
|
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'- CGGAAAAGCAGTGTTTCAAGTGCAG -3'
(R):5'- GAACGGTCCAGGTAAATGGTGTCTC -3'
Sequencing Primer
(F):5'- TTAATGAGAACAGTTTCCAGGGC -3'
(R):5'- TGAGGACACATTCTCACTGATGG -3'
|
Posted On |
2013-06-11 |