Incidental Mutation 'R5950:Lrpprc'
ID |
472421 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrpprc
|
Ensembl Gene |
ENSMUSG00000024120 |
Gene Name |
leucine-rich PPR-motif containing |
Synonyms |
Lrp130, 3110001K13Rik |
MMRRC Submission |
044140-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5950 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
85012675-85098214 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 85047598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 878
(D878A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112308]
|
AlphaFold |
Q6PB66 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112308
AA Change: D878A
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000107927 Gene: ENSMUSG00000024120 AA Change: D878A
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 |
silent
Transcript: ENSMUST00000160011
|
Meta Mutation Damage Score |
0.4673 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
Validation Efficiency |
93% (75/81) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
G |
A |
7: 119,981,879 (GRCm39) |
G1065R |
probably damaging |
Het |
Acox2 |
A |
T |
14: 8,255,793 (GRCm38) |
Y113N |
probably benign |
Het |
Arid4b |
T |
A |
13: 14,365,849 (GRCm39) |
|
probably benign |
Het |
Atf6 |
C |
T |
1: 170,662,448 (GRCm39) |
G271R |
probably damaging |
Het |
Bnip5 |
T |
A |
17: 29,124,729 (GRCm39) |
Q256L |
possibly damaging |
Het |
Cct8l1 |
C |
A |
5: 25,722,741 (GRCm39) |
F485L |
probably benign |
Het |
Cdk5r2 |
A |
G |
1: 74,894,561 (GRCm39) |
E102G |
probably damaging |
Het |
Celsr1 |
A |
T |
15: 85,916,701 (GRCm39) |
V424E |
probably damaging |
Het |
Ces1h |
T |
C |
8: 94,089,587 (GRCm39) |
T271A |
probably benign |
Het |
Cfap44 |
T |
C |
16: 44,300,210 (GRCm39) |
I1738T |
probably damaging |
Het |
Cntnap3 |
G |
A |
13: 64,935,583 (GRCm39) |
L427F |
probably damaging |
Het |
Crybg3 |
T |
C |
16: 59,313,934 (GRCm39) |
|
probably benign |
Het |
Dis3l2 |
A |
G |
1: 86,948,830 (GRCm39) |
D589G |
probably damaging |
Het |
Dlg1 |
A |
G |
16: 31,484,401 (GRCm39) |
R10G |
probably damaging |
Het |
Dnajc1 |
A |
C |
2: 18,311,752 (GRCm39) |
|
probably benign |
Het |
Dpy19l2 |
T |
A |
9: 24,492,430 (GRCm39) |
T723S |
probably benign |
Het |
Dsg3 |
A |
T |
18: 20,671,586 (GRCm39) |
N764Y |
probably damaging |
Het |
Dst |
G |
T |
1: 34,301,141 (GRCm39) |
R3654L |
probably damaging |
Het |
Dynlt5 |
T |
G |
4: 102,861,447 (GRCm39) |
L147R |
probably damaging |
Het |
Evl |
C |
T |
12: 108,641,812 (GRCm39) |
T198I |
probably benign |
Het |
Hectd2 |
A |
G |
19: 36,574,639 (GRCm39) |
|
probably benign |
Het |
Hsp90b1 |
A |
G |
10: 86,537,609 (GRCm39) |
V232A |
possibly damaging |
Het |
Igsf5 |
T |
C |
16: 96,174,072 (GRCm39) |
V34A |
probably benign |
Het |
Ikzf2 |
A |
T |
1: 69,722,403 (GRCm39) |
N41K |
probably damaging |
Het |
Kif6 |
G |
T |
17: 50,022,116 (GRCm39) |
A339S |
probably damaging |
Het |
Klhl1 |
T |
A |
14: 96,477,790 (GRCm39) |
D426V |
probably damaging |
Het |
Knop1 |
A |
C |
7: 118,452,557 (GRCm39) |
V54G |
probably damaging |
Het |
Lama4 |
T |
A |
10: 38,906,444 (GRCm39) |
V270D |
probably benign |
Het |
Lnx2 |
A |
G |
5: 146,961,160 (GRCm39) |
|
probably null |
Het |
Lrp5 |
A |
T |
19: 3,652,333 (GRCm39) |
V1179E |
probably benign |
Het |
Lrrc14 |
A |
T |
15: 76,599,510 (GRCm39) |
|
probably benign |
Het |
Ltbp1 |
A |
T |
17: 75,580,865 (GRCm39) |
D660V |
probably damaging |
Het |
Macf1 |
C |
G |
4: 123,333,229 (GRCm39) |
|
probably null |
Het |
Map3k21 |
C |
A |
8: 126,668,499 (GRCm39) |
T695K |
possibly damaging |
Het |
Mcm3ap |
T |
A |
10: 76,324,253 (GRCm39) |
D895E |
possibly damaging |
Het |
Mink1 |
T |
A |
11: 70,500,412 (GRCm39) |
D779E |
possibly damaging |
Het |
Mkrn3 |
T |
C |
7: 62,069,467 (GRCm39) |
E108G |
probably damaging |
Het |
Mtcl3 |
T |
C |
10: 29,019,644 (GRCm39) |
|
probably benign |
Het |
Nars1 |
A |
G |
18: 64,643,556 (GRCm39) |
V141A |
possibly damaging |
Het |
Or8g34 |
T |
C |
9: 39,373,633 (GRCm39) |
V299A |
probably benign |
Het |
Pard3b |
T |
A |
1: 62,255,690 (GRCm39) |
Y572N |
probably benign |
Het |
Pcnx3 |
A |
C |
19: 5,717,186 (GRCm39) |
M1599R |
possibly damaging |
Het |
Pitx2 |
A |
G |
3: 129,012,169 (GRCm39) |
S180G |
probably damaging |
Het |
Pkd2l1 |
A |
C |
19: 44,140,529 (GRCm39) |
V608G |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,396,361 (GRCm39) |
D1961G |
probably benign |
Het |
Pxylp1 |
T |
C |
9: 96,721,179 (GRCm39) |
T109A |
probably damaging |
Het |
Rai1 |
T |
A |
11: 60,078,419 (GRCm39) |
C828S |
probably damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,785,050 (GRCm39) |
T737S |
possibly damaging |
Het |
Scn11a |
A |
G |
9: 119,640,190 (GRCm39) |
V235A |
probably damaging |
Het |
Sfxn1 |
A |
T |
13: 54,245,306 (GRCm39) |
T134S |
probably benign |
Het |
Skint1 |
A |
G |
4: 111,876,532 (GRCm39) |
Y151C |
probably benign |
Het |
Slc11a1 |
G |
T |
1: 74,416,335 (GRCm39) |
W54L |
probably benign |
Het |
Slc49a3 |
A |
T |
5: 108,593,351 (GRCm39) |
H162Q |
probably damaging |
Het |
Synpo2l |
T |
A |
14: 20,716,003 (GRCm39) |
Q191L |
probably benign |
Het |
Tank |
A |
G |
2: 61,483,913 (GRCm39) |
|
probably benign |
Het |
Terb1 |
A |
T |
8: 105,215,117 (GRCm39) |
|
probably null |
Het |
Trdc |
T |
C |
14: 54,381,768 (GRCm39) |
|
probably benign |
Het |
Tsen34 |
A |
G |
7: 3,697,787 (GRCm39) |
I63V |
probably null |
Het |
Ust |
T |
C |
10: 8,123,865 (GRCm39) |
H257R |
probably benign |
Het |
Vmn2r6 |
T |
C |
3: 64,472,652 (GRCm39) |
Q23R |
probably benign |
Het |
Wdr93 |
A |
T |
7: 79,423,179 (GRCm39) |
H481L |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,341,664 (GRCm39) |
T1302A |
possibly damaging |
Het |
Zc3h6 |
C |
A |
2: 128,839,710 (GRCm39) |
Y174* |
probably null |
Het |
Zcchc7 |
T |
G |
4: 44,931,244 (GRCm39) |
D144E |
possibly damaging |
Het |
Zfp472 |
T |
A |
17: 33,196,481 (GRCm39) |
H185Q |
possibly damaging |
Het |
Zfp523 |
C |
A |
17: 28,421,532 (GRCm39) |
P66H |
probably benign |
Het |
Zfp712 |
A |
T |
13: 67,192,881 (GRCm39) |
L57Q |
probably damaging |
Het |
Zik1 |
G |
A |
7: 10,224,498 (GRCm39) |
Q200* |
probably null |
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 |
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'- CCAGCTTCCTATTATTATTGGGACTG -3'
(R):5'- ATGCCATCAGTATGTGCTAGCAG -3'
Sequencing Primer
(F):5'- GGGACTGAATTCGATTAACATGAATC -3'
(R):5'- TATGTGCTAGCAGATAAAGGACTCTG -3'
|
Posted On |
2017-03-31 |