Incidental Mutation 'R6185:Lrpprc'
| ID |
502141 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrpprc
|
| Ensembl Gene |
ENSMUSG00000024120 |
| Gene Name |
leucine-rich PPR-motif containing |
| Synonyms |
Lrp130, 3110001K13Rik |
| MMRRC Submission |
044325-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6185 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
85012675-85098214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85074452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 485
(D485G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112308]
|
| AlphaFold |
Q6PB66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112308
AA Change: D485G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107927
Gene: ENSMUSG00000024120
AA Change: D485G
| 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
|
| Meta Mutation Damage Score |
0.0744 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
96% (80/83) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
T |
4: 53,078,089 (GRCm39) |
H894Q |
probably benign |
Het |
| Abca4 |
A |
T |
3: 121,919,789 (GRCm39) |
I1024F |
probably damaging |
Het |
| Acadl |
A |
G |
1: 66,877,522 (GRCm39) |
V343A |
possibly damaging |
Het |
| Akr1e1 |
T |
A |
13: 4,651,252 (GRCm39) |
I123L |
probably benign |
Het |
| Angptl2 |
T |
C |
2: 33,119,026 (GRCm39) |
S267P |
probably benign |
Het |
| Ap2a1 |
T |
G |
7: 44,565,594 (GRCm39) |
K91T |
probably damaging |
Het |
| Bend7 |
A |
T |
2: 4,793,333 (GRCm39) |
Q379L |
probably damaging |
Het |
| Bicdl1 |
C |
T |
5: 115,808,212 (GRCm39) |
|
probably null |
Het |
| Cachd1 |
C |
A |
4: 100,838,228 (GRCm39) |
Y830* |
probably null |
Het |
| Ccdc158 |
T |
A |
5: 92,814,713 (GRCm39) |
I38F |
possibly damaging |
Het |
| Cep97 |
T |
A |
16: 55,735,455 (GRCm39) |
M448L |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,775,765 (GRCm39) |
D2572G |
probably damaging |
Het |
| Clcnkb |
C |
T |
4: 141,141,825 (GRCm39) |
V54M |
probably benign |
Het |
| Cln8 |
A |
G |
8: 14,946,544 (GRCm39) |
D186G |
probably benign |
Het |
| Crxos |
C |
T |
7: 15,636,805 (GRCm39) |
S22L |
possibly damaging |
Het |
| Cx3cr1 |
A |
T |
9: 119,880,444 (GRCm39) |
H319Q |
probably benign |
Het |
| Cyp2j6 |
G |
C |
4: 96,424,323 (GRCm39) |
L145V |
probably damaging |
Het |
| Dmrta1 |
A |
G |
4: 89,580,005 (GRCm39) |
R322G |
probably damaging |
Het |
| Dpf1 |
A |
G |
7: 29,010,696 (GRCm39) |
E103G |
possibly damaging |
Het |
| Dsg1b |
T |
G |
18: 20,532,543 (GRCm39) |
V529G |
probably benign |
Het |
| Dst |
G |
A |
1: 34,212,161 (GRCm39) |
V1361I |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,483,743 (GRCm39) |
I89V |
probably damaging |
Het |
| Etfdh |
G |
T |
3: 79,513,114 (GRCm39) |
H370N |
probably benign |
Het |
| Fam186a |
A |
G |
15: 99,845,530 (GRCm39) |
I238T |
unknown |
Het |
| Fbxl5 |
T |
A |
5: 43,978,894 (GRCm39) |
S19C |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,270,131 (GRCm39) |
V367A |
probably benign |
Het |
| Gm19410 |
T |
A |
8: 36,274,664 (GRCm39) |
L1495H |
possibly damaging |
Het |
| Gm19965 |
A |
G |
1: 116,749,003 (GRCm39) |
E228G |
possibly damaging |
Het |
| Gpr89 |
C |
A |
3: 96,798,149 (GRCm39) |
C169F |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,491,189 (GRCm39) |
|
probably null |
Het |
| Hsph1 |
A |
T |
5: 149,541,160 (GRCm39) |
C753S |
probably damaging |
Het |
| Igf2 |
T |
A |
7: 142,212,118 (GRCm39) |
S4C |
possibly damaging |
Het |
| Kansl3 |
A |
T |
1: 36,385,099 (GRCm39) |
S486T |
probably damaging |
Het |
| Khdrbs1 |
G |
C |
4: 129,636,068 (GRCm39) |
|
probably benign |
Het |
| Lnx1 |
A |
T |
5: 74,846,269 (GRCm39) |
C60* |
probably null |
Het |
| Ly6i |
A |
T |
15: 74,851,879 (GRCm39) |
S97T |
possibly damaging |
Het |
| Me2 |
G |
A |
18: 73,924,199 (GRCm39) |
Q338* |
probably null |
Het |
| Med16 |
A |
T |
10: 79,732,197 (GRCm39) |
L790Q |
probably damaging |
Het |
| Muc16 |
G |
T |
9: 18,565,769 (GRCm39) |
T2250K |
unknown |
Het |
| Myo10 |
T |
G |
15: 25,726,596 (GRCm39) |
F273C |
probably damaging |
Het |
| Neil3 |
T |
A |
8: 54,052,182 (GRCm39) |
H472L |
probably benign |
Het |
| Nrxn1 |
T |
A |
17: 90,344,564 (GRCm39) |
S57C |
probably damaging |
Het |
| Nup188 |
A |
T |
2: 30,231,722 (GRCm39) |
T1439S |
probably damaging |
Het |
| Or10g3 |
T |
C |
14: 52,610,019 (GRCm39) |
T164A |
possibly damaging |
Het |
| Or10g7 |
T |
C |
9: 39,905,420 (GRCm39) |
F105L |
probably benign |
Het |
| Or5w10 |
A |
G |
2: 87,375,087 (GRCm39) |
M267T |
possibly damaging |
Het |
| Otud7a |
T |
A |
7: 63,408,133 (GRCm39) |
L812Q |
probably damaging |
Het |
| Paip2b |
C |
T |
6: 83,786,952 (GRCm39) |
A95T |
probably benign |
Het |
| Pax4 |
C |
T |
6: 28,446,347 (GRCm39) |
V49I |
probably damaging |
Het |
| Plek |
C |
T |
11: 16,931,829 (GRCm39) |
A341T |
probably damaging |
Het |
| Prkag1 |
G |
A |
15: 98,723,595 (GRCm39) |
P10L |
probably benign |
Het |
| R3hdm1 |
A |
C |
1: 128,079,598 (GRCm39) |
D15A |
possibly damaging |
Het |
| Rad54b |
A |
T |
4: 11,593,804 (GRCm39) |
D144V |
possibly damaging |
Het |
| Rmi2 |
C |
T |
16: 10,704,073 (GRCm39) |
T138I |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,189,814 (GRCm39) |
L379P |
probably damaging |
Het |
| Sec14l3 |
A |
T |
11: 4,025,244 (GRCm39) |
I285F |
probably damaging |
Het |
| Sec31b |
A |
T |
19: 44,531,723 (GRCm39) |
I62N |
possibly damaging |
Het |
| Selp |
A |
G |
1: 163,953,915 (GRCm39) |
N72D |
probably damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,471,802 (GRCm39) |
S1261T |
probably damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,194,992 (GRCm39) |
Y915* |
probably null |
Het |
| Slc22a27 |
A |
T |
19: 7,903,953 (GRCm39) |
D61E |
probably benign |
Het |
| Slc2a7 |
A |
G |
4: 150,233,450 (GRCm39) |
T8A |
probably benign |
Het |
| Slc5a2 |
T |
C |
7: 127,870,349 (GRCm39) |
I529T |
probably damaging |
Het |
| Spart |
A |
C |
3: 55,024,640 (GRCm39) |
Q78H |
probably damaging |
Het |
| Spocd1 |
T |
C |
4: 129,850,242 (GRCm39) |
I756T |
probably benign |
Het |
| Stc1 |
G |
A |
14: 69,275,813 (GRCm39) |
C202Y |
probably damaging |
Het |
| Stk10 |
A |
G |
11: 32,527,749 (GRCm39) |
T166A |
probably benign |
Het |
| Syt6 |
A |
T |
3: 103,492,844 (GRCm39) |
D32V |
probably damaging |
Het |
| Tanc1 |
T |
A |
2: 59,621,929 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
T |
A |
11: 105,803,865 (GRCm39) |
N297K |
probably damaging |
Het |
| Telo2 |
A |
G |
17: 25,321,014 (GRCm39) |
S734P |
probably benign |
Het |
| Tfrc |
T |
A |
16: 32,437,090 (GRCm39) |
Y250N |
probably benign |
Het |
| Tmem97 |
C |
T |
11: 78,434,388 (GRCm39) |
W65* |
probably null |
Het |
| Ubr3 |
T |
C |
2: 69,768,621 (GRCm39) |
M476T |
probably damaging |
Het |
| Ubtf |
T |
C |
11: 102,204,849 (GRCm39) |
T117A |
probably damaging |
Het |
| Usp17lb |
T |
A |
7: 104,490,631 (GRCm39) |
M99L |
probably benign |
Het |
| Uvrag |
A |
C |
7: 98,790,039 (GRCm39) |
|
probably null |
Het |
| Vmn2r63 |
A |
G |
7: 42,578,435 (GRCm39) |
S153P |
probably damaging |
Het |
| Vmn2r90 |
A |
T |
17: 17,953,644 (GRCm39) |
T603S |
probably damaging |
Het |
| Vps8 |
C |
A |
16: 21,288,891 (GRCm39) |
L417I |
probably 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 |
|
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 |
|
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'- AGGAAAGTGCTCTTTGGTCTTC -3'
(R):5'- CTCACTGATGGAGAGAATCGTC -3'
Sequencing Primer
(F):5'- TGCTACACACACTGACTGGTG -3'
(R):5'- CGTCAGAGTAAACCTTGTAACTTCC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation