Incidental Mutation 'IGL02943:Lrpprc'
| ID |
364617 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrpprc
|
| Ensembl Gene |
ENSMUSG00000024120 |
| Gene Name |
leucine-rich PPR-motif containing |
| Synonyms |
Lrp130, 3110001K13Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02943
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
85012675-85098214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85078878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 279
(R279G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112308]
|
| AlphaFold |
Q6PB66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112308
AA Change: R279G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000107927
Gene: ENSMUSG00000024120
AA Change: R279G
| 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
|
| Coding Region Coverage |
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akp3 |
T |
A |
1: 87,054,091 (GRCm39) |
Y236* |
probably null |
Het |
| Ankrd13c |
C |
T |
3: 157,653,564 (GRCm39) |
T134M |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,498,553 (GRCm39) |
S529P |
probably damaging |
Het |
| Cdkl2 |
T |
A |
5: 92,185,103 (GRCm39) |
N96I |
possibly damaging |
Het |
| Cep57 |
A |
T |
9: 13,730,149 (GRCm39) |
|
probably benign |
Het |
| Chchd7 |
T |
C |
4: 3,942,796 (GRCm39) |
Y44H |
probably damaging |
Het |
| Ciart |
T |
C |
3: 95,786,314 (GRCm39) |
I254V |
possibly damaging |
Het |
| Cyp2a12 |
T |
C |
7: 26,731,967 (GRCm39) |
I236T |
probably benign |
Het |
| Dlgap5 |
A |
G |
14: 47,650,433 (GRCm39) |
|
probably null |
Het |
| Ednra |
T |
A |
8: 78,446,683 (GRCm39) |
I132F |
probably damaging |
Het |
| En2 |
T |
C |
5: 28,371,524 (GRCm39) |
|
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,846,613 (GRCm39) |
R1102G |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,822,701 (GRCm39) |
Q6145K |
probably benign |
Het |
| Galnt5 |
A |
T |
2: 57,889,780 (GRCm39) |
D460V |
probably damaging |
Het |
| Gm6401 |
C |
T |
14: 41,788,851 (GRCm39) |
E73K |
possibly damaging |
Het |
| Gpr84 |
T |
C |
15: 103,217,316 (GRCm39) |
I254V |
probably benign |
Het |
| Hacd3 |
A |
T |
9: 64,897,718 (GRCm39) |
I298N |
probably damaging |
Het |
| Hyal6 |
T |
A |
6: 24,743,438 (GRCm39) |
V378E |
probably damaging |
Het |
| Il20rb |
G |
T |
9: 100,348,305 (GRCm39) |
H210N |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,798,243 (GRCm39) |
|
probably benign |
Het |
| Itga1 |
C |
T |
13: 115,185,832 (GRCm39) |
E57K |
possibly damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,055,433 (GRCm39) |
D571E |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,495,821 (GRCm39) |
S623G |
probably damaging |
Het |
| L3mbtl2 |
T |
A |
15: 81,570,456 (GRCm39) |
S645T |
possibly damaging |
Het |
| Lrp2 |
A |
G |
2: 69,285,854 (GRCm39) |
V3779A |
possibly damaging |
Het |
| Lurap1l |
A |
G |
4: 80,871,872 (GRCm39) |
K122E |
probably damaging |
Het |
| Met |
T |
C |
6: 17,535,928 (GRCm39) |
Y785H |
possibly damaging |
Het |
| Myh3 |
T |
C |
11: 66,981,891 (GRCm39) |
F796L |
probably benign |
Het |
| Myo16 |
T |
C |
8: 10,450,595 (GRCm39) |
|
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,294,723 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
T |
C |
7: 6,068,974 (GRCm39) |
C292R |
probably damaging |
Het |
| Nmnat1 |
A |
G |
4: 149,557,745 (GRCm39) |
L99P |
probably damaging |
Het |
| Or1j12 |
A |
T |
2: 36,343,051 (GRCm39) |
L151F |
probably benign |
Het |
| Or5p64 |
A |
G |
7: 107,854,623 (GRCm39) |
F241L |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,719,235 (GRCm39) |
V1124A |
unknown |
Het |
| Phf20l1 |
A |
G |
15: 66,466,733 (GRCm39) |
Y54C |
probably damaging |
Het |
| Postn |
T |
C |
3: 54,285,029 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
A |
G |
9: 50,794,885 (GRCm39) |
D570G |
probably damaging |
Het |
| Prdm2 |
A |
C |
4: 142,858,542 (GRCm39) |
S1583A |
probably benign |
Het |
| Proser1 |
T |
C |
3: 53,386,524 (GRCm39) |
V802A |
probably damaging |
Het |
| Ptprc |
A |
T |
1: 138,027,251 (GRCm39) |
N532K |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,351,172 (GRCm39) |
H555R |
possibly damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,789,524 (GRCm39) |
D276G |
possibly damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,131,752 (GRCm39) |
V635A |
probably damaging |
Het |
| Rbm5 |
T |
C |
9: 107,621,542 (GRCm39) |
Y620C |
probably damaging |
Het |
| Sall1 |
C |
T |
8: 89,757,749 (GRCm39) |
R785H |
probably damaging |
Het |
| Slc22a2 |
G |
T |
17: 12,828,948 (GRCm39) |
L351F |
probably damaging |
Het |
| Sorcs3 |
A |
T |
19: 48,748,377 (GRCm39) |
Q782L |
probably benign |
Het |
| Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tas2r107 |
T |
A |
6: 131,636,369 (GRCm39) |
M227L |
probably damaging |
Het |
| Tecpr2 |
C |
T |
12: 110,934,183 (GRCm39) |
T1281I |
probably benign |
Het |
| Topbp1 |
T |
A |
9: 103,205,639 (GRCm39) |
V759E |
probably benign |
Het |
| Trim2 |
T |
C |
3: 84,085,483 (GRCm39) |
T504A |
probably benign |
Het |
| Trpc1 |
A |
G |
9: 95,590,906 (GRCm39) |
|
probably benign |
Het |
| Tssk4 |
T |
A |
14: 55,889,023 (GRCm39) |
V183E |
probably damaging |
Het |
| Vmn1r202 |
T |
C |
13: 22,686,364 (GRCm39) |
T18A |
probably benign |
Het |
| Vmn1r225 |
T |
C |
17: 20,722,567 (GRCm39) |
S3P |
possibly damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,831,666 (GRCm39) |
V554E |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,641,250 (GRCm39) |
I2291V |
probably damaging |
Het |
| Vps39 |
A |
G |
2: 120,169,968 (GRCm39) |
S195P |
possibly damaging |
Het |
| Zfand4 |
T |
A |
6: 116,250,837 (GRCm39) |
|
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation