Incidental Mutation 'IGL01996:Lrpprc'
| ID |
182911 |
| 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 # |
IGL01996
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
85012675-85098214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85080698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 176
(Y176H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112308]
|
| AlphaFold |
Q6PB66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112308
AA Change: Y176H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107927
Gene: ENSMUSG00000024120
AA Change: Y176H
| 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
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
T |
C |
1: 120,078,430 (GRCm39) |
V29A |
possibly damaging |
Het |
| Adarb1 |
A |
G |
10: 77,158,051 (GRCm39) |
L132P |
probably damaging |
Het |
| Afg3l1 |
T |
G |
8: 124,228,633 (GRCm39) |
M733R |
probably damaging |
Het |
| Aox1 |
C |
T |
1: 58,121,225 (GRCm39) |
R899C |
probably benign |
Het |
| Arhgap44 |
T |
A |
11: 64,896,322 (GRCm39) |
|
probably benign |
Het |
| Asns |
T |
C |
6: 7,682,378 (GRCm39) |
D189G |
possibly damaging |
Het |
| Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
| Ccdc138 |
T |
A |
10: 58,397,852 (GRCm39) |
L564H |
probably damaging |
Het |
| Ccdc167 |
A |
G |
17: 29,924,461 (GRCm39) |
|
probably null |
Het |
| Ccdc178 |
A |
G |
18: 22,230,813 (GRCm39) |
Y353H |
probably damaging |
Het |
| Clca3b |
A |
T |
3: 144,554,924 (GRCm39) |
S41R |
probably benign |
Het |
| Dpep3 |
T |
C |
8: 106,701,358 (GRCm39) |
N397S |
probably damaging |
Het |
| Eif1 |
T |
C |
11: 100,211,826 (GRCm39) |
I83T |
probably benign |
Het |
| Enah |
A |
T |
1: 181,784,070 (GRCm39) |
W80R |
unknown |
Het |
| F2rl1 |
C |
T |
13: 95,650,432 (GRCm39) |
C150Y |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,434,440 (GRCm39) |
R387G |
possibly damaging |
Het |
| Fsd1l |
A |
G |
4: 53,647,760 (GRCm39) |
T68A |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,740,846 (GRCm39) |
K1412R |
possibly damaging |
Het |
| Grin2b |
T |
C |
6: 135,709,584 (GRCm39) |
S1321G |
probably damaging |
Het |
| H4c11 |
G |
A |
13: 21,919,308 (GRCm39) |
G15S |
unknown |
Het |
| Itgb7 |
C |
T |
15: 102,126,412 (GRCm39) |
G508D |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,895,545 (GRCm39) |
I333T |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,934,542 (GRCm39) |
D2115G |
probably damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,442,871 (GRCm39) |
|
probably null |
Het |
| Mier1 |
T |
C |
4: 102,984,473 (GRCm39) |
S22P |
possibly damaging |
Het |
| Mme |
A |
T |
3: 63,250,970 (GRCm39) |
N337I |
probably benign |
Het |
| Mthfd1 |
A |
G |
12: 76,350,679 (GRCm39) |
Y687C |
probably damaging |
Het |
| Nrp2 |
T |
C |
1: 62,788,419 (GRCm39) |
M373T |
probably damaging |
Het |
| Nudcd1 |
A |
T |
15: 44,269,357 (GRCm39) |
F101Y |
probably benign |
Het |
| Nup133 |
T |
A |
8: 124,673,334 (GRCm39) |
I66L |
probably benign |
Het |
| Or10j7 |
T |
C |
1: 173,011,294 (GRCm39) |
T236A |
probably benign |
Het |
| Or11j4 |
T |
G |
14: 50,631,116 (GRCm39) |
M301R |
probably damaging |
Het |
| Or1e19 |
T |
A |
11: 73,316,794 (GRCm39) |
N5I |
probably damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,261,081 (GRCm39) |
|
probably null |
Het |
| Paqr8 |
T |
C |
1: 21,005,628 (GRCm39) |
F261L |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,482,084 (GRCm39) |
E1452G |
probably damaging |
Het |
| Polh |
T |
C |
17: 46,483,927 (GRCm39) |
D446G |
probably benign |
Het |
| Psg19 |
A |
T |
7: 18,523,986 (GRCm39) |
M353K |
possibly damaging |
Het |
| Sap25 |
T |
C |
5: 137,640,080 (GRCm39) |
|
probably null |
Het |
| Sap30l |
C |
T |
11: 57,700,777 (GRCm39) |
R144* |
probably null |
Het |
| Sema6b |
C |
T |
17: 56,438,157 (GRCm39) |
V144M |
probably damaging |
Het |
| Sfmbt2 |
T |
C |
2: 10,444,837 (GRCm39) |
Y228H |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,965,230 (GRCm39) |
D946G |
probably damaging |
Het |
| Slc11a1 |
T |
A |
1: 74,415,965 (GRCm39) |
L52Q |
possibly damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,423,424 (GRCm39) |
|
probably benign |
Het |
| Tgfb1i1 |
T |
C |
7: 127,848,464 (GRCm39) |
|
probably benign |
Het |
| Tifa |
T |
C |
3: 127,590,229 (GRCm39) |
|
probably benign |
Het |
| Tomm40l |
C |
T |
1: 171,047,224 (GRCm39) |
V265M |
possibly damaging |
Het |
| Trim45 |
C |
A |
3: 100,835,425 (GRCm39) |
Y469* |
probably null |
Het |
| Ttc21a |
G |
T |
9: 119,787,182 (GRCm39) |
A730S |
probably damaging |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,001 (GRCm39) |
D184E |
possibly damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,832,222 (GRCm39) |
I189N |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation