Incidental Mutation 'R5333:Lrpprc'
ID |
423378 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrpprc
|
Ensembl Gene |
ENSMUSG00000024120 |
Gene Name |
leucine-rich PPR-motif containing |
Synonyms |
Lrp130, 3110001K13Rik |
MMRRC Submission |
042915-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5333 (G1)
|
Quality Score |
144 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
85012675-85098214 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 85097821 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 41
(A41S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112308]
|
AlphaFold |
Q6PB66 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000112308
AA Change: A41S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000107927 Gene: ENSMUSG00000024120 AA Change: A41S
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: ENSMUST00000161299
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161928
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
97% (56/58) |
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 |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
Abca14 |
T |
A |
7: 119,888,769 (GRCm39) |
Y1238* |
probably null |
Het |
Abcb5 |
A |
T |
12: 118,831,677 (GRCm39) |
V1225D |
probably damaging |
Het |
Arhgef15 |
A |
G |
11: 68,838,022 (GRCm39) |
|
probably benign |
Het |
As3mt |
A |
G |
19: 46,696,635 (GRCm39) |
R58G |
probably null |
Het |
Asap1 |
T |
G |
15: 63,999,263 (GRCm39) |
N525T |
possibly damaging |
Het |
Bhmt2 |
A |
G |
13: 93,807,938 (GRCm39) |
V50A |
probably benign |
Het |
Bpnt2 |
A |
C |
4: 4,767,963 (GRCm39) |
V271G |
possibly damaging |
Het |
Ccdc180 |
A |
T |
4: 45,890,935 (GRCm39) |
I36F |
possibly damaging |
Het |
Cd209c |
A |
G |
8: 3,994,976 (GRCm39) |
S63P |
probably damaging |
Het |
Cdc37 |
T |
C |
9: 21,054,457 (GRCm39) |
E56G |
possibly damaging |
Het |
Cdkal1 |
T |
C |
13: 29,510,135 (GRCm39) |
Y541C |
probably benign |
Het |
Cenph |
G |
T |
13: 100,898,280 (GRCm39) |
H208N |
probably benign |
Het |
Cfap65 |
A |
T |
1: 74,942,334 (GRCm39) |
L1740Q |
probably benign |
Het |
Cfap74 |
A |
G |
4: 155,521,197 (GRCm39) |
D623G |
probably damaging |
Het |
Ckap4 |
C |
A |
10: 84,363,474 (GRCm39) |
V530L |
probably damaging |
Het |
Cldn13 |
A |
T |
5: 134,943,869 (GRCm39) |
N105K |
probably benign |
Het |
Ddn |
T |
C |
15: 98,703,237 (GRCm39) |
D685G |
possibly damaging |
Het |
Fdxr |
T |
C |
11: 115,163,084 (GRCm39) |
I70V |
probably benign |
Het |
Fn1 |
A |
T |
1: 71,663,339 (GRCm39) |
Y1050N |
probably damaging |
Het |
Iqcf3 |
A |
G |
9: 106,430,860 (GRCm39) |
I96T |
possibly damaging |
Het |
Itgax |
A |
G |
7: 127,741,455 (GRCm39) |
Y822C |
probably damaging |
Het |
Katnb1 |
A |
T |
8: 95,822,234 (GRCm39) |
I286L |
possibly damaging |
Het |
Lrp2 |
A |
C |
2: 69,355,572 (GRCm39) |
I424R |
probably benign |
Het |
Mast3 |
A |
G |
8: 71,236,145 (GRCm39) |
L761P |
probably benign |
Het |
Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
Mpp4 |
C |
A |
1: 59,196,600 (GRCm39) |
R44L |
probably benign |
Het |
Nalf1 |
T |
A |
8: 9,820,762 (GRCm39) |
Q86L |
possibly damaging |
Het |
Nkain3 |
T |
A |
4: 20,484,889 (GRCm39) |
M63L |
probably benign |
Het |
Nup88 |
A |
C |
11: 70,835,842 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
T |
11: 58,953,518 (GRCm39) |
C3837S |
probably damaging |
Het |
Ogdh |
T |
G |
11: 6,302,126 (GRCm39) |
L850V |
probably damaging |
Het |
Or4f17-ps1 |
A |
G |
2: 111,358,048 (GRCm39) |
I148V |
probably benign |
Het |
Or5w11 |
A |
G |
2: 87,459,458 (GRCm39) |
Y217C |
probably damaging |
Het |
Panx2 |
T |
C |
15: 88,952,742 (GRCm39) |
I411T |
possibly damaging |
Het |
Papss1 |
T |
A |
3: 131,348,805 (GRCm39) |
M585K |
probably damaging |
Het |
Pcbp2 |
T |
G |
15: 102,394,456 (GRCm39) |
L180R |
possibly damaging |
Het |
Pcdha7 |
A |
T |
18: 37,107,619 (GRCm39) |
T215S |
probably benign |
Het |
Pcdhga4 |
C |
T |
18: 37,818,477 (GRCm39) |
R9C |
probably benign |
Het |
Plin4 |
A |
G |
17: 56,411,970 (GRCm39) |
V687A |
probably benign |
Het |
Potefam1 |
A |
T |
2: 111,024,682 (GRCm39) |
Y61N |
possibly damaging |
Het |
Psma6 |
A |
G |
12: 55,454,213 (GRCm39) |
|
probably benign |
Het |
Rcn1 |
A |
T |
2: 105,219,471 (GRCm39) |
S241T |
probably benign |
Het |
Scgb2b18 |
A |
T |
7: 32,872,700 (GRCm39) |
L35H |
probably damaging |
Het |
Slc11a1 |
A |
C |
1: 74,423,304 (GRCm39) |
D385A |
probably damaging |
Het |
Stk31 |
T |
A |
6: 49,446,086 (GRCm39) |
C930S |
probably benign |
Het |
Syt10 |
T |
A |
15: 89,725,932 (GRCm39) |
Q14L |
probably benign |
Het |
Tnxb |
T |
G |
17: 34,909,205 (GRCm39) |
W1578G |
probably damaging |
Het |
Triml1 |
C |
T |
8: 43,583,327 (GRCm39) |
A425T |
possibly damaging |
Het |
Vil1 |
G |
A |
1: 74,471,549 (GRCm39) |
V777I |
probably benign |
Het |
Vmn1r175 |
T |
C |
7: 23,508,004 (GRCm39) |
I208V |
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 |
|
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 |
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'- TCAAGACTCTCAACCTTGTCAC -3'
(R):5'- GGTCCTTAGTTTGTCCCACTAGG -3'
Sequencing Primer
(F):5'- TTGTCACCCCAAACCACTGG -3'
(R):5'- TCACGTGCTCCTCCAGG -3'
|
Posted On |
2016-08-04 |