Incidental Mutation 'R8970:Lrpprc'
| ID |
683045 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrpprc
|
| Ensembl Gene |
ENSMUSG00000024120 |
| Gene Name |
leucine-rich PPR-motif containing |
| Synonyms |
Lrp130, 3110001K13Rik |
| MMRRC Submission |
068804-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8970 (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 A
at 85074483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 475
(T475S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112308]
|
| AlphaFold |
Q6PB66 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112308
AA Change: T475S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107927
Gene: ENSMUSG00000024120
AA Change: T475S
| 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 |
0.3130 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (69/70) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,545,726 (GRCm39) |
V467A |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,335,728 (GRCm39) |
V2113A |
probably benign |
Het |
| Adam10 |
A |
G |
9: 70,655,458 (GRCm39) |
N309D |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,099,983 (GRCm39) |
W698R |
probably benign |
Het |
| Adnp |
T |
C |
2: 168,031,290 (GRCm39) |
N7S |
possibly damaging |
Het |
| Ankar |
A |
G |
1: 72,691,496 (GRCm39) |
|
probably null |
Het |
| Ankrd34b |
T |
A |
13: 92,575,590 (GRCm39) |
I274K |
probably benign |
Het |
| Apela |
A |
T |
8: 65,489,601 (GRCm39) |
L6H |
unknown |
Het |
| Ash1l |
T |
C |
3: 88,976,307 (GRCm39) |
I2629T |
probably benign |
Het |
| Auts2 |
C |
T |
5: 132,287,791 (GRCm39) |
R64K |
possibly damaging |
Het |
| Bms1 |
A |
G |
6: 118,369,292 (GRCm39) |
V1003A |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,068,971 (GRCm39) |
V555A |
|
Het |
| C2cd6 |
T |
A |
1: 59,108,895 (GRCm39) |
H252L |
possibly damaging |
Het |
| Capn3 |
G |
T |
2: 120,294,566 (GRCm39) |
K71N |
possibly damaging |
Het |
| Chct1 |
A |
G |
11: 85,069,246 (GRCm39) |
E198G |
probably benign |
Het |
| Clec2l |
C |
A |
6: 38,657,122 (GRCm39) |
T195K |
possibly damaging |
Het |
| Col27a1 |
T |
C |
4: 63,134,105 (GRCm39) |
S15P |
unknown |
Het |
| Coro2b |
T |
C |
9: 62,333,809 (GRCm39) |
|
probably benign |
Het |
| Crocc2 |
A |
T |
1: 93,116,687 (GRCm39) |
T233S |
probably benign |
Het |
| Ddb1 |
A |
G |
19: 10,585,808 (GRCm39) |
Q174R |
probably benign |
Het |
| Denr |
C |
T |
5: 124,055,279 (GRCm39) |
P48L |
probably damaging |
Het |
| Dusp26 |
A |
G |
8: 31,584,232 (GRCm39) |
Y113C |
probably damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Evi5l |
A |
G |
8: 4,236,154 (GRCm39) |
|
probably benign |
Het |
| Fgf2 |
G |
T |
3: 37,458,767 (GRCm39) |
V96F |
probably benign |
Het |
| Gpr139 |
A |
G |
7: 118,744,034 (GRCm39) |
Y184H |
probably damaging |
Het |
| Gtf3c1 |
A |
C |
7: 125,272,227 (GRCm39) |
|
probably benign |
Het |
| Gucy1b2 |
A |
G |
14: 62,656,664 (GRCm39) |
V231A |
possibly damaging |
Het |
| Gucy2g |
T |
C |
19: 55,191,478 (GRCm39) |
E991G |
possibly damaging |
Het |
| Gvin1 |
A |
T |
7: 105,762,647 (GRCm39) |
H607Q |
probably damaging |
Het |
| Hal |
T |
C |
10: 93,325,036 (GRCm39) |
V15A |
probably damaging |
Het |
| Hes3 |
A |
G |
4: 152,376,036 (GRCm39) |
|
probably null |
Het |
| Il11 |
A |
G |
7: 4,779,181 (GRCm39) |
L72P |
probably damaging |
Het |
| Iqsec3 |
T |
A |
6: 121,366,528 (GRCm39) |
I785F |
probably damaging |
Het |
| Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
| Lrrc63 |
T |
A |
14: 75,362,631 (GRCm39) |
T300S |
unknown |
Het |
| Lsamp |
A |
T |
16: 41,994,528 (GRCm39) |
I331F |
possibly damaging |
Het |
| Ltn1 |
A |
T |
16: 87,212,926 (GRCm39) |
I545K |
probably benign |
Het |
| Mab21l4 |
G |
C |
1: 93,087,533 (GRCm39) |
P107A |
probably benign |
Het |
| Med13l |
G |
A |
5: 118,883,164 (GRCm39) |
R1341H |
probably damaging |
Het |
| Msh4 |
T |
A |
3: 153,575,369 (GRCm39) |
K669* |
probably null |
Het |
| Myo10 |
T |
A |
15: 25,803,467 (GRCm39) |
L1558H |
possibly damaging |
Het |
| Ncbp1 |
G |
A |
4: 46,170,023 (GRCm39) |
V699M |
probably damaging |
Het |
| Or12k8 |
T |
A |
2: 36,975,478 (GRCm39) |
Y94F |
probably benign |
Het |
| Or56b1b |
A |
G |
7: 108,164,997 (GRCm39) |
S2P |
probably benign |
Het |
| Or5b114-ps1 |
T |
G |
19: 13,353,117 (GRCm39) |
S264A |
unknown |
Het |
| Or5b99 |
T |
A |
19: 12,976,353 (GRCm39) |
M1K |
probably null |
Het |
| Parpbp |
G |
A |
10: 87,962,186 (GRCm39) |
R165W |
probably damaging |
Het |
| Pcdhgb7 |
T |
A |
18: 37,885,631 (GRCm39) |
M267K |
probably benign |
Het |
| Pitx3 |
T |
A |
19: 46,125,540 (GRCm39) |
H68L |
possibly damaging |
Het |
| Ppfia4 |
A |
G |
1: 134,252,289 (GRCm39) |
L395P |
probably damaging |
Het |
| Pramel42 |
T |
C |
5: 94,685,645 (GRCm39) |
V435A |
probably benign |
Het |
| Ptprh |
T |
C |
7: 4,583,944 (GRCm39) |
D216G |
possibly damaging |
Het |
| Ptprs |
A |
G |
17: 56,730,353 (GRCm39) |
S1174P |
possibly damaging |
Het |
| Shf |
A |
G |
2: 122,187,654 (GRCm39) |
S51P |
probably benign |
Het |
| Sinhcaf |
A |
T |
6: 148,834,624 (GRCm39) |
F2I |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,822 (GRCm39) |
L65Q |
probably damaging |
Het |
| Srgap2 |
G |
A |
1: 131,226,104 (GRCm39) |
L390F |
|
Het |
| Srpk1 |
T |
C |
17: 28,818,493 (GRCm39) |
T448A |
probably benign |
Het |
| Stat5a |
A |
G |
11: 100,771,353 (GRCm39) |
D612G |
probably benign |
Het |
| Supt4a |
A |
T |
11: 87,633,645 (GRCm39) |
E67V |
probably benign |
Het |
| Tango6 |
T |
A |
8: 107,415,871 (GRCm39) |
C231S |
probably damaging |
Het |
| Th |
A |
G |
7: 142,446,796 (GRCm39) |
L490P |
probably damaging |
Het |
| Tpcn1 |
C |
T |
5: 120,682,518 (GRCm39) |
G497S |
probably damaging |
Het |
| Trim10 |
A |
T |
17: 37,184,168 (GRCm39) |
I254F |
probably benign |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Vmn2r124 |
G |
T |
17: 18,294,439 (GRCm39) |
R842L |
probably benign |
Het |
| Vmn2r56 |
T |
C |
7: 12,428,632 (GRCm39) |
R545G |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,222,244 (GRCm39) |
T659A |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,852,803 (GRCm39) |
M2361T |
probably benign |
Het |
| Zfp217 |
T |
C |
2: 169,956,997 (GRCm39) |
D667G |
possibly damaging |
Het |
| Zfp952 |
T |
G |
17: 33,221,810 (GRCm39) |
C96W |
probably benign |
Het |
| Zfp959 |
A |
G |
17: 56,204,836 (GRCm39) |
Q291R |
possibly damaging |
Het |
| Zscan4-ps3 |
T |
C |
7: 11,344,414 (GRCm39) |
V124A |
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 |
|
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 |
|
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'- GCTACGTTACACTGCTACACAC -3'
(R):5'- CGGTCCAGGTAAATGGTGTCTC -3'
Sequencing Primer
(F):5'- TGCTACACACACTGACTGGTG -3'
(R):5'- TCCCTAGGATGTGGGTTAGATAAAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation