Incidental Mutation 'R2568:Lrpprc'
| ID |
254663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrpprc
|
| Ensembl Gene |
ENSMUSG00000024120 |
| Gene Name |
leucine-rich PPR-motif containing |
| Synonyms |
Lrp130, 3110001K13Rik |
| MMRRC Submission |
040427-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2568 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
85012675-85098214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85034077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 973
(A973T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112308]
|
| AlphaFold |
Q6PB66 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112308
AA Change: A973T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107927
Gene: ENSMUSG00000024120
AA Change: A973T
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730071L15Rik |
A |
T |
11: 6,150,161 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,283,310 (GRCm39) |
N3244I |
probably benign |
Het |
| Adgrf5 |
A |
G |
17: 43,748,562 (GRCm39) |
T219A |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 95,660,649 (GRCm39) |
N92I |
probably damaging |
Het |
| Agt |
A |
C |
8: 125,283,694 (GRCm39) |
V475G |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 52,934,061 (GRCm39) |
K518E |
possibly damaging |
Het |
| Apoh |
T |
G |
11: 108,295,697 (GRCm39) |
D133E |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,220,319 (GRCm39) |
M234L |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,804,468 (GRCm39) |
I1335T |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cfap206 |
T |
A |
4: 34,711,566 (GRCm39) |
K444* |
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,707,832 (GRCm39) |
I614M |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,940,275 (GRCm39) |
D1218E |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,230,753 (GRCm39) |
V1010A |
possibly damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| D130043K22Rik |
C |
T |
13: 25,067,874 (GRCm39) |
T870M |
probably damaging |
Het |
| Dagla |
C |
A |
19: 10,225,516 (GRCm39) |
A883S |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,926,263 (GRCm39) |
V87A |
probably damaging |
Het |
| Dtx1 |
C |
A |
5: 120,848,249 (GRCm39) |
V44L |
possibly damaging |
Het |
| Ecm2 |
T |
A |
13: 49,683,605 (GRCm39) |
S528T |
possibly damaging |
Het |
| Eeig2 |
T |
A |
3: 108,886,164 (GRCm39) |
N356I |
probably benign |
Het |
| Egfem1 |
A |
T |
3: 29,637,080 (GRCm39) |
N172I |
probably damaging |
Het |
| Fam13a |
T |
G |
6: 58,912,594 (GRCm39) |
R686S |
probably damaging |
Het |
| Fam243 |
A |
G |
16: 92,118,207 (GRCm39) |
L27P |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,663,828 (GRCm39) |
I234L |
probably benign |
Het |
| Foxj2 |
C |
T |
6: 122,805,331 (GRCm39) |
R68W |
probably damaging |
Het |
| Foxo6 |
A |
T |
4: 120,125,961 (GRCm39) |
M278K |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,820,775 (GRCm39) |
S5503G |
probably benign |
Het |
| Gdf5 |
C |
G |
2: 155,784,010 (GRCm39) |
R100G |
probably benign |
Het |
| Il1b |
A |
T |
2: 129,209,242 (GRCm39) |
D129E |
probably damaging |
Het |
| Klhl29 |
A |
G |
12: 5,141,350 (GRCm39) |
S545P |
probably damaging |
Het |
| Krt87 |
G |
T |
15: 101,385,708 (GRCm39) |
R296S |
possibly damaging |
Het |
| Llgl1 |
T |
G |
11: 60,599,638 (GRCm39) |
S509R |
probably damaging |
Het |
| Lmod1 |
A |
T |
1: 135,291,702 (GRCm39) |
K186* |
probably null |
Het |
| Marco |
T |
C |
1: 120,422,514 (GRCm39) |
H49R |
possibly damaging |
Het |
| Mylk4 |
T |
C |
13: 32,906,001 (GRCm39) |
N394S |
probably null |
Het |
| Myo5a |
A |
G |
9: 75,030,322 (GRCm39) |
Y147C |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,059,179 (GRCm39) |
V469A |
probably damaging |
Het |
| Myot |
A |
G |
18: 44,470,283 (GRCm39) |
T87A |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,247,312 (GRCm39) |
H2154R |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,999,112 (GRCm38) |
E1037G |
possibly damaging |
Het |
| Or1j13 |
T |
C |
2: 36,369,986 (GRCm39) |
D52G |
probably damaging |
Het |
| Or52e4 |
A |
G |
7: 104,705,878 (GRCm39) |
T142A |
probably benign |
Het |
| Or5k17 |
A |
G |
16: 58,746,286 (GRCm39) |
V216A |
probably benign |
Het |
| Pitrm1 |
G |
T |
13: 6,625,128 (GRCm39) |
V869F |
probably benign |
Het |
| Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,976,940 (GRCm39) |
|
probably benign |
Het |
| Prdx1 |
T |
G |
4: 116,550,997 (GRCm39) |
I156S |
probably benign |
Het |
| Rbks |
T |
A |
5: 31,823,096 (GRCm39) |
T107S |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,506,219 (GRCm39) |
R3468W |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,103,813 (GRCm39) |
D1805N |
probably damaging |
Het |
| Sirpa |
T |
C |
2: 129,457,568 (GRCm39) |
V214A |
probably benign |
Het |
| Slc35c1 |
T |
C |
2: 92,289,225 (GRCm39) |
N94D |
probably benign |
Het |
| Sorbs2 |
A |
T |
8: 46,248,407 (GRCm39) |
K553* |
probably null |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Thg1l |
A |
G |
11: 45,842,392 (GRCm39) |
V142A |
probably benign |
Het |
| Tiparp |
T |
A |
3: 65,460,551 (GRCm39) |
Y513* |
probably null |
Het |
| Tmc6 |
A |
G |
11: 117,663,646 (GRCm39) |
V522A |
probably benign |
Het |
| Trim39 |
T |
A |
17: 36,580,056 (GRCm39) |
|
probably benign |
Het |
| Trrap |
G |
A |
5: 144,780,179 (GRCm39) |
|
probably null |
Het |
| Tulp3 |
C |
T |
6: 128,304,601 (GRCm39) |
V218I |
probably benign |
Het |
| Vmn1r38 |
T |
A |
6: 66,753,955 (GRCm39) |
I54F |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,719,147 (GRCm39) |
Y833* |
probably null |
Het |
| Zfp810 |
A |
T |
9: 22,190,534 (GRCm39) |
S125T |
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 |
|
|
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'- TGAGCTAAGCTAAGTCCTGGAAG -3'
(R):5'- GCAGAGGAAAGATTTCTGTGGC -3'
Sequencing Primer
(F):5'- AAGTCCTGGAAGTCTTTTAGGCTCAC -3'
(R):5'- TATTAGATACACAGAGACGTCTCCG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation