Incidental Mutation 'IGL02503:Lrpprc'
| ID |
296146 |
| 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 # |
IGL02503
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
85012675-85098214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85033767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1037
(T1037A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112308]
|
| AlphaFold |
Q6PB66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112308
AA Change: T1037A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107927
Gene: ENSMUSG00000024120
AA Change: T1037A
| 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 |
probably benign
Transcript: ENSMUST00000160011
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162799
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
T |
14: 56,008,962 (GRCm39) |
W822R |
probably damaging |
Het |
| Ago4 |
A |
T |
4: 126,390,598 (GRCm39) |
Y807* |
probably null |
Het |
| Alkbh8 |
G |
A |
9: 3,347,852 (GRCm39) |
G215D |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,426,545 (GRCm39) |
|
probably null |
Het |
| Cspg4 |
G |
A |
9: 56,804,687 (GRCm39) |
V1833M |
probably damaging |
Het |
| Cyp4f17 |
T |
C |
17: 32,743,940 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,909,621 (GRCm39) |
Y1411* |
probably null |
Het |
| Dmrtc1b |
T |
A |
X: 101,758,366 (GRCm39) |
S199T |
possibly damaging |
Het |
| Elk4 |
A |
G |
1: 131,942,277 (GRCm39) |
N50D |
probably damaging |
Het |
| Filip1l |
T |
A |
16: 57,391,938 (GRCm39) |
V604E |
probably benign |
Het |
| Fmo3 |
A |
T |
1: 162,796,433 (GRCm39) |
H46Q |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,990,348 (GRCm39) |
Y1116F |
unknown |
Het |
| Fpr-rs3 |
T |
A |
17: 20,844,817 (GRCm39) |
N108I |
probably damaging |
Het |
| Glmn |
A |
T |
5: 107,710,644 (GRCm39) |
M316K |
probably damaging |
Het |
| Gm5591 |
C |
A |
7: 38,219,433 (GRCm39) |
R480I |
probably damaging |
Het |
| Gm8122 |
G |
T |
14: 43,092,645 (GRCm39) |
R39S |
unknown |
Het |
| Gprasp1 |
T |
A |
X: 134,703,279 (GRCm39) |
Y1157* |
probably null |
Het |
| H2bc21 |
A |
G |
3: 96,128,539 (GRCm39) |
T20A |
probably benign |
Het |
| Hsf1 |
T |
C |
15: 76,382,870 (GRCm39) |
L370P |
probably benign |
Het |
| Iqsec1 |
T |
A |
6: 90,645,770 (GRCm39) |
I809F |
probably damaging |
Het |
| Itsn1 |
G |
T |
16: 91,686,092 (GRCm39) |
M54I |
possibly damaging |
Het |
| Klra2 |
T |
C |
6: 131,207,057 (GRCm39) |
N184S |
probably benign |
Het |
| Lifr |
T |
A |
15: 7,215,104 (GRCm39) |
V737E |
probably damaging |
Het |
| Map3k13 |
A |
T |
16: 21,727,454 (GRCm39) |
I439F |
possibly damaging |
Het |
| Megf8 |
T |
C |
7: 25,062,988 (GRCm39) |
V2448A |
possibly damaging |
Het |
| Mthfd1l |
T |
A |
10: 4,033,824 (GRCm39) |
V737D |
probably damaging |
Het |
| Mtm1 |
A |
G |
X: 70,343,276 (GRCm39) |
T386A |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,421,404 (GRCm39) |
V4298A |
probably benign |
Het |
| Or10ag2 |
T |
G |
2: 87,248,636 (GRCm39) |
F81L |
probably benign |
Het |
| Or5w18 |
A |
T |
2: 87,632,864 (GRCm39) |
I44F |
probably benign |
Het |
| Or8k21 |
C |
T |
2: 86,144,983 (GRCm39) |
G216R |
possibly damaging |
Het |
| Plch1 |
A |
G |
3: 63,605,285 (GRCm39) |
S1531P |
probably damaging |
Het |
| Poc1b |
T |
A |
10: 98,980,210 (GRCm39) |
|
probably benign |
Het |
| Rictor |
T |
A |
15: 6,815,924 (GRCm39) |
N1065K |
probably benign |
Het |
| Rpsa |
A |
G |
9: 119,957,659 (GRCm39) |
E35G |
possibly damaging |
Het |
| Scfd1 |
T |
A |
12: 51,469,704 (GRCm39) |
D416E |
possibly damaging |
Het |
| Sdad1 |
A |
T |
5: 92,449,661 (GRCm39) |
|
probably benign |
Het |
| Skor1 |
A |
G |
9: 63,053,397 (GRCm39) |
S191P |
probably damaging |
Het |
| Slc28a2 |
T |
C |
2: 122,288,693 (GRCm39) |
F600L |
probably benign |
Het |
| Tmem229b-ps |
A |
G |
10: 53,351,250 (GRCm39) |
|
noncoding transcript |
Het |
| Top2b |
A |
G |
14: 16,407,163 (GRCm38) |
M678V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,617,107 (GRCm39) |
N8092S |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,572,033 (GRCm39) |
V26287I |
probably damaging |
Het |
| Tulp4 |
T |
A |
17: 6,263,666 (GRCm39) |
I345N |
probably damaging |
Het |
| U2surp |
C |
T |
9: 95,384,622 (GRCm39) |
V21I |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 38,018,564 (GRCm39) |
T859A |
possibly damaging |
Het |
| Ubr5 |
T |
C |
15: 38,018,558 (GRCm39) |
K861E |
probably damaging |
Het |
| Unc13d |
A |
G |
11: 115,959,628 (GRCm39) |
V617A |
possibly damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,151,341 (GRCm39) |
Y91C |
probably damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,816,385 (GRCm39) |
I657F |
probably benign |
Het |
| Wwc2 |
T |
C |
8: 48,302,418 (GRCm39) |
R931G |
unknown |
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 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation