Incidental Mutation 'R6807:Lrpprc'
ID |
533629 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrpprc
|
Ensembl Gene |
ENSMUSG00000024120 |
Gene Name |
leucine-rich PPR-motif containing |
Synonyms |
Lrp130, 3110001K13Rik |
MMRRC Submission |
044920-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6807 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
85012675-85098214 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 85056531 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 787
(S787P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112308]
|
AlphaFold |
Q6PB66 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112308
AA Change: S787P
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000107927 Gene: ENSMUSG00000024120 AA Change: S787P
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 |
|
Meta Mutation Damage Score |
0.5556 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.9%
|
Validation Efficiency |
100% (72/72) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
A |
G |
11: 84,282,356 (GRCm39) |
T2158A |
probably benign |
Het |
Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
Apol7a |
T |
C |
15: 77,277,520 (GRCm39) |
|
probably null |
Het |
Bicdl1 |
C |
T |
5: 115,810,202 (GRCm39) |
|
probably null |
Het |
Bop1 |
T |
A |
15: 76,339,183 (GRCm39) |
Q362L |
probably damaging |
Het |
C4b |
T |
C |
17: 34,949,930 (GRCm39) |
D1418G |
probably benign |
Het |
Cdh23 |
A |
G |
10: 60,214,650 (GRCm39) |
V1455A |
possibly damaging |
Het |
Cecr2 |
T |
G |
6: 120,711,503 (GRCm39) |
|
probably null |
Het |
Cer1 |
T |
C |
4: 82,801,052 (GRCm39) |
S204G |
probably benign |
Het |
Cers3 |
G |
C |
7: 66,413,968 (GRCm39) |
W15C |
probably damaging |
Het |
Csn1s2a |
A |
T |
5: 87,929,731 (GRCm39) |
H110L |
probably benign |
Het |
Dnah10 |
T |
G |
5: 124,867,064 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
T |
C |
9: 7,041,718 (GRCm39) |
N3315S |
probably benign |
Het |
Dynlrb2 |
T |
C |
8: 117,234,299 (GRCm39) |
M21T |
probably benign |
Het |
Emilin1 |
T |
A |
5: 31,072,871 (GRCm39) |
F103I |
probably benign |
Het |
Esrra |
T |
A |
19: 6,889,142 (GRCm39) |
M416L |
probably benign |
Het |
Etaa1 |
C |
A |
11: 17,902,680 (GRCm39) |
V86L |
probably benign |
Het |
Extl3 |
A |
G |
14: 65,314,211 (GRCm39) |
S324P |
probably damaging |
Het |
Fam90a1a |
T |
C |
8: 22,453,368 (GRCm39) |
V241A |
probably benign |
Het |
Fat4 |
C |
A |
3: 39,036,589 (GRCm39) |
Q3414K |
probably benign |
Het |
Gpr162 |
C |
T |
6: 124,838,164 (GRCm39) |
R162H |
probably damaging |
Het |
Gpr21 |
T |
A |
2: 37,407,974 (GRCm39) |
Y173* |
probably null |
Het |
Gprc6a |
G |
A |
10: 51,502,841 (GRCm39) |
Q341* |
probably null |
Het |
Herc2 |
T |
A |
7: 55,814,670 (GRCm39) |
S2674R |
probably damaging |
Het |
Hnrnpdl |
A |
T |
5: 100,186,995 (GRCm39) |
H9Q |
probably null |
Het |
Hps1 |
A |
G |
19: 42,759,217 (GRCm39) |
V125A |
possibly damaging |
Het |
Iba57 |
G |
T |
11: 59,049,440 (GRCm39) |
P243H |
probably damaging |
Het |
Incenp |
G |
T |
19: 9,855,120 (GRCm39) |
A597E |
unknown |
Het |
Kat6a |
T |
A |
8: 23,430,384 (GRCm39) |
M1913K |
unknown |
Het |
Klb |
G |
A |
5: 65,536,877 (GRCm39) |
V736M |
probably damaging |
Het |
Krt33a |
T |
A |
11: 99,903,209 (GRCm39) |
T278S |
possibly damaging |
Het |
Krt73 |
T |
G |
15: 101,704,842 (GRCm39) |
E348A |
probably damaging |
Het |
Lig3 |
T |
A |
11: 82,674,577 (GRCm39) |
D134E |
probably benign |
Het |
Limd2 |
T |
C |
11: 106,049,771 (GRCm39) |
T73A |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,268,208 (GRCm39) |
M6735T |
probably damaging |
Het |
Mapkbp1 |
C |
A |
2: 119,851,640 (GRCm39) |
Q861K |
probably damaging |
Het |
Mc4r |
T |
A |
18: 66,992,927 (GRCm39) |
N62I |
probably damaging |
Het |
Metap1d |
G |
A |
2: 71,341,858 (GRCm39) |
V151I |
probably damaging |
Het |
Nek2 |
T |
C |
1: 191,554,729 (GRCm39) |
V147A |
probably damaging |
Het |
Nlrp1b |
A |
T |
11: 71,108,530 (GRCm39) |
W324R |
probably damaging |
Het |
Nol4l |
G |
T |
2: 153,325,746 (GRCm39) |
S113* |
probably null |
Het |
Oc90 |
T |
A |
15: 65,761,463 (GRCm39) |
D185V |
probably damaging |
Het |
Or2a52 |
T |
C |
6: 43,144,172 (GRCm39) |
F60S |
probably damaging |
Het |
Or2v1 |
G |
A |
11: 49,025,805 (GRCm39) |
R262K |
probably damaging |
Het |
Or4a71 |
G |
A |
2: 89,357,932 (GRCm39) |
T274M |
probably damaging |
Het |
Or5m13 |
A |
T |
2: 85,748,382 (GRCm39) |
T38S |
possibly damaging |
Het |
Or5p51 |
T |
A |
7: 107,444,797 (GRCm39) |
T48S |
possibly damaging |
Het |
Or8g50 |
A |
T |
9: 39,648,914 (GRCm39) |
K268* |
probably null |
Het |
Pcdha8 |
A |
G |
18: 37,127,401 (GRCm39) |
T628A |
probably damaging |
Het |
Pcsk5 |
A |
T |
19: 17,549,986 (GRCm39) |
|
probably null |
Het |
Pdgfrb |
T |
C |
18: 61,211,721 (GRCm39) |
|
probably null |
Het |
Pgm3 |
A |
T |
9: 86,438,555 (GRCm39) |
|
probably null |
Het |
Pin1rt1 |
T |
A |
2: 104,545,063 (GRCm39) |
Y23F |
probably benign |
Het |
Poli |
T |
A |
18: 70,663,222 (GRCm39) |
|
probably null |
Het |
Pom121 |
C |
A |
5: 135,409,978 (GRCm39) |
|
probably benign |
Het |
Ppp2r5c |
A |
G |
12: 110,535,456 (GRCm39) |
D407G |
possibly damaging |
Het |
Pramel28 |
A |
G |
4: 143,691,581 (GRCm39) |
S381P |
probably damaging |
Het |
Rgs12 |
A |
G |
5: 35,180,515 (GRCm39) |
D116G |
probably null |
Het |
Serpina3b |
A |
T |
12: 104,099,251 (GRCm39) |
E255D |
probably benign |
Het |
Sft2d1rt |
T |
C |
11: 45,942,859 (GRCm39) |
Q88R |
probably damaging |
Het |
Slc46a1 |
A |
G |
11: 78,357,790 (GRCm39) |
H281R |
probably damaging |
Het |
Spata6 |
T |
C |
4: 111,642,012 (GRCm39) |
I294T |
probably benign |
Het |
Srgap1 |
T |
A |
10: 121,664,631 (GRCm39) |
|
probably null |
Het |
Stag1 |
C |
T |
9: 100,826,903 (GRCm39) |
R957C |
probably damaging |
Het |
Stk35 |
G |
A |
2: 129,643,573 (GRCm39) |
E186K |
probably damaging |
Het |
Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
Tenm4 |
G |
A |
7: 96,544,478 (GRCm39) |
V2165I |
probably damaging |
Het |
Tmem53 |
T |
C |
4: 117,125,528 (GRCm39) |
S207P |
probably benign |
Het |
Ugt2a3 |
A |
G |
5: 87,484,617 (GRCm39) |
F136L |
probably benign |
Het |
Unc13d |
T |
C |
11: 115,957,577 (GRCm39) |
K795E |
probably damaging |
Het |
Zbtb11 |
C |
A |
16: 55,810,865 (GRCm39) |
T341K |
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 |
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'- TCAAGGGTTCTAATCACCAGAG -3'
(R):5'- CTCGAAATCGGCATTATACACTAG -3'
Sequencing Primer
(F):5'- TCACCAGAGTATTTGCAGAGC -3'
(R):5'- AGAATTTACATTCCTGCTGGGC -3'
|
Posted On |
2018-09-12 |