Incidental Mutation 'R8178:Lrpprc'
| ID |
634516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrpprc
|
| Ensembl Gene |
ENSMUSG00000024120 |
| Gene Name |
leucine-rich PPR-motif containing |
| Synonyms |
Lrp130, 3110001K13Rik |
| MMRRC Submission |
067603-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8178 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
85012675-85098214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85079575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 227
(L227P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112308]
|
| AlphaFold |
Q6PB66 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112308
AA Change: L227P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107927
Gene: ENSMUSG00000024120
AA Change: L227P
| 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 |
|
| Meta Mutation Damage Score |
0.8517 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
| Validation Efficiency |
99% (68/69) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
A |
G |
17: 79,935,699 (GRCm39) |
I276V |
|
Het |
| Acsm5 |
C |
A |
7: 119,141,618 (GRCm39) |
H538N |
probably damaging |
Het |
| Adamts17 |
A |
G |
7: 66,499,464 (GRCm39) |
I4V |
possibly damaging |
Het |
| Adgrg3 |
T |
C |
8: 95,761,675 (GRCm39) |
V146A |
probably damaging |
Het |
| Ankrd52 |
T |
A |
10: 128,225,170 (GRCm39) |
L877Q |
probably damaging |
Het |
| Aox3 |
A |
T |
1: 58,189,481 (GRCm39) |
D394V |
possibly damaging |
Het |
| Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,761,983 (GRCm39) |
E413G |
unknown |
Het |
| Arhgef5 |
T |
C |
6: 43,252,119 (GRCm39) |
S957P |
probably benign |
Het |
| Arsk |
G |
T |
13: 76,239,861 (GRCm39) |
T114K |
probably damaging |
Het |
| Bpifb2 |
T |
C |
2: 153,733,876 (GRCm39) |
V406A |
probably damaging |
Het |
| Cbr3 |
C |
A |
16: 93,480,393 (GRCm39) |
Q61K |
probably benign |
Het |
| Ccdc73 |
C |
T |
2: 104,821,557 (GRCm39) |
S502L |
probably benign |
Het |
| Cdhr3 |
A |
T |
12: 33,098,931 (GRCm39) |
|
probably null |
Het |
| Cep170b |
T |
A |
12: 112,705,719 (GRCm39) |
M1159K |
possibly damaging |
Het |
| Cep295 |
A |
T |
9: 15,244,836 (GRCm39) |
S1159T |
|
Het |
| Cit |
C |
T |
5: 116,107,131 (GRCm39) |
R1088W |
probably damaging |
Het |
| Col16a1 |
A |
T |
4: 129,947,270 (GRCm39) |
H205L |
unknown |
Het |
| Cpt1c |
T |
G |
7: 44,609,077 (GRCm39) |
H748P |
probably damaging |
Het |
| Cstdc4 |
T |
G |
16: 36,006,772 (GRCm39) |
Y35* |
probably null |
Het |
| Dcaf8 |
A |
T |
1: 172,013,886 (GRCm39) |
D359V |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,618,422 (GRCm39) |
Y277C |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,832,790 (GRCm39) |
K898R |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,037,208 (GRCm39) |
T3345S |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,803,815 (GRCm39) |
N254Y |
probably damaging |
Het |
| F2 |
A |
T |
2: 91,460,618 (GRCm39) |
|
probably null |
Het |
| Fam216b |
G |
C |
14: 78,322,504 (GRCm39) |
H67D |
possibly damaging |
Het |
| Fbxl17 |
A |
C |
17: 63,794,967 (GRCm39) |
|
probably null |
Het |
| Gas2 |
T |
A |
7: 51,547,026 (GRCm39) |
M59K |
probably damaging |
Het |
| Glud1 |
G |
A |
14: 34,065,664 (GRCm39) |
G554D |
probably damaging |
Het |
| Gys2 |
C |
T |
6: 142,402,138 (GRCm39) |
G234R |
probably damaging |
Het |
| Ifngr1 |
A |
G |
10: 19,485,241 (GRCm39) |
I413M |
probably benign |
Het |
| Inpp5a |
C |
T |
7: 139,118,153 (GRCm39) |
R236C |
probably damaging |
Het |
| Kcnip3 |
A |
G |
2: 127,323,934 (GRCm39) |
S32P |
probably benign |
Het |
| Lingo3 |
T |
A |
10: 80,670,464 (GRCm39) |
T489S |
possibly damaging |
Het |
| Morn1 |
A |
G |
4: 155,213,160 (GRCm39) |
Q356R |
probably benign |
Het |
| Naxd |
A |
C |
8: 11,561,987 (GRCm39) |
K275Q |
probably benign |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nck1 |
A |
T |
9: 100,379,790 (GRCm39) |
W154R |
probably damaging |
Het |
| Or10d5 |
G |
A |
9: 39,861,708 (GRCm39) |
R120C |
probably benign |
Het |
| Or1ad8 |
T |
A |
11: 50,898,437 (GRCm39) |
C213S |
probably damaging |
Het |
| Or5aq6 |
C |
T |
2: 86,923,220 (GRCm39) |
V174M |
possibly damaging |
Het |
| Or7e175 |
T |
C |
9: 20,048,571 (GRCm39) |
V53A |
possibly damaging |
Het |
| Pdxk |
C |
T |
10: 78,289,338 (GRCm39) |
V38M |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pes1 |
T |
C |
11: 3,927,718 (GRCm39) |
S482P |
probably benign |
Het |
| Pglyrp1 |
T |
A |
7: 18,618,657 (GRCm39) |
F3I |
unknown |
Het |
| Pira13 |
T |
C |
7: 3,824,260 (GRCm39) |
K631R |
unknown |
Het |
| Plce1 |
T |
A |
19: 38,761,423 (GRCm39) |
F2092I |
possibly damaging |
Het |
| Pms1 |
A |
G |
1: 53,246,505 (GRCm39) |
S345P |
probably benign |
Het |
| Pom121l12 |
C |
A |
11: 14,550,011 (GRCm39) |
P239H |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,859,018 (GRCm39) |
I1424T |
probably benign |
Het |
| Prmt6 |
A |
G |
3: 110,158,140 (GRCm39) |
Y50H |
probably damaging |
Het |
| Rbm39 |
T |
C |
2: 155,996,195 (GRCm39) |
I397V |
probably benign |
Het |
| Rnf157 |
A |
G |
11: 116,238,307 (GRCm39) |
V519A |
possibly damaging |
Het |
| Sec23a |
T |
C |
12: 59,053,980 (GRCm39) |
E6G |
possibly damaging |
Het |
| Shank1 |
T |
C |
7: 43,962,748 (GRCm39) |
|
probably null |
Het |
| Slfn3 |
A |
G |
11: 83,105,505 (GRCm39) |
I378V |
probably benign |
Het |
| Smn1 |
T |
A |
13: 100,267,303 (GRCm39) |
|
probably null |
Het |
| Snd1 |
T |
C |
6: 28,874,975 (GRCm39) |
F632S |
possibly damaging |
Het |
| Sun5 |
T |
C |
2: 153,698,131 (GRCm39) |
|
probably null |
Het |
| Tial1 |
T |
C |
7: 128,046,614 (GRCm39) |
R209G |
probably benign |
Het |
| Trhde |
T |
C |
10: 114,244,598 (GRCm39) |
I963V |
possibly damaging |
Het |
| Tssc4 |
G |
T |
7: 142,623,932 (GRCm39) |
R80L |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,642,852 (GRCm39) |
N13261K |
probably damaging |
Het |
| Ugdh |
A |
T |
5: 65,581,005 (GRCm39) |
|
probably null |
Het |
| Vmn1r218 |
A |
T |
13: 23,321,472 (GRCm39) |
E273V |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,386,988 (GRCm39) |
F109Y |
possibly damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,931,398 (GRCm39) |
S196G |
probably benign |
Het |
| Zfp788 |
T |
A |
7: 41,298,335 (GRCm39) |
C324S |
probably damaging |
Het |
| Zfp976 |
T |
C |
7: 42,262,959 (GRCm39) |
T294A |
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 |
|
|
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 |
|
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'- CCCTGAGCAATTGTAAATTCTGTG -3'
(R):5'- CCTGAGAAGGGGATTATCTTTCC -3'
Sequencing Primer
(F):5'- CTGTGTATCAAATTTCAGGGGAAGTC -3'
(R):5'- TAAGGCCTCGTTCACACA -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation