Incidental Mutation 'R2019:Lrpprc'
ID |
223713 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrpprc
|
Ensembl Gene |
ENSMUSG00000024120 |
Gene Name |
leucine-rich PPR-motif containing |
Synonyms |
Lrp130, 3110001K13Rik |
MMRRC Submission |
040028-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2019 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
85012675-85098214 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 85059759 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 685
(L685Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112308]
|
AlphaFold |
Q6PB66 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112308
AA Change: L685Q
PolyPhen 2
Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000107927 Gene: ENSMUSG00000024120 AA Change: L685Q
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 |
probably benign
Transcript: ENSMUST00000160011
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160414
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
100% (71/71) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610028H24Rik |
C |
A |
10: 76,293,899 (GRCm39) |
F252L |
possibly damaging |
Het |
Abcc9 |
G |
A |
6: 142,621,160 (GRCm39) |
L527F |
probably damaging |
Het |
Abi3bp |
A |
G |
16: 56,498,159 (GRCm39) |
T918A |
probably damaging |
Het |
Acp3 |
C |
T |
9: 104,201,901 (GRCm39) |
G81R |
probably damaging |
Het |
Acss3 |
C |
T |
10: 106,772,068 (GRCm39) |
S669N |
probably benign |
Het |
Akt1 |
T |
C |
12: 112,626,059 (GRCm39) |
N71S |
probably damaging |
Het |
Amz1 |
G |
T |
5: 140,737,719 (GRCm39) |
M326I |
probably benign |
Het |
Ankrd36 |
A |
G |
11: 5,639,140 (GRCm39) |
I1351V |
probably benign |
Het |
Art2b |
T |
C |
7: 101,229,194 (GRCm39) |
D235G |
probably benign |
Het |
Ccdc141 |
A |
C |
2: 76,841,909 (GRCm39) |
I1507M |
probably damaging |
Het |
Dck |
A |
G |
5: 88,921,943 (GRCm39) |
Y135C |
probably damaging |
Het |
Dmbt1 |
T |
G |
7: 130,712,718 (GRCm39) |
I1563S |
possibly damaging |
Het |
Dnttip2 |
T |
C |
3: 122,074,393 (GRCm39) |
V610A |
possibly damaging |
Het |
Efhb |
A |
G |
17: 53,708,505 (GRCm39) |
S722P |
probably damaging |
Het |
Emx2 |
A |
G |
19: 59,447,771 (GRCm39) |
S42G |
probably benign |
Het |
Ermard |
C |
T |
17: 15,273,527 (GRCm39) |
R371C |
probably damaging |
Het |
Fat1 |
T |
G |
8: 45,476,783 (GRCm39) |
I1943S |
probably damaging |
Het |
Fignl1 |
T |
C |
11: 11,752,054 (GRCm39) |
K334E |
probably damaging |
Het |
Fmn1 |
A |
C |
2: 113,194,825 (GRCm39) |
K175T |
unknown |
Het |
Gm7247 |
A |
T |
14: 51,602,804 (GRCm39) |
M47L |
possibly damaging |
Het |
Gpalpp1 |
A |
T |
14: 76,348,131 (GRCm39) |
|
probably null |
Het |
Hc |
A |
C |
2: 34,903,540 (GRCm39) |
F1038C |
probably damaging |
Het |
Ifngr1 |
A |
T |
10: 19,467,861 (GRCm39) |
M10L |
probably damaging |
Het |
Irx5 |
T |
G |
8: 93,084,992 (GRCm39) |
Y61D |
probably damaging |
Het |
Itgax |
A |
G |
7: 127,747,698 (GRCm39) |
H1038R |
probably benign |
Het |
Jag1 |
C |
T |
2: 136,926,599 (GRCm39) |
E982K |
probably benign |
Het |
Klhdc9 |
T |
C |
1: 171,186,509 (GRCm39) |
D309G |
probably damaging |
Het |
Lamp3 |
A |
T |
16: 19,519,961 (GRCm39) |
M74K |
probably benign |
Het |
Magel2 |
G |
A |
7: 62,028,844 (GRCm39) |
V583I |
unknown |
Het |
Mgat5b |
A |
G |
11: 116,838,174 (GRCm39) |
Y271C |
probably benign |
Het |
Mtmr6 |
T |
C |
14: 60,536,441 (GRCm39) |
M557T |
probably benign |
Het |
Myo16 |
T |
C |
8: 10,426,260 (GRCm39) |
L339P |
probably benign |
Het |
Neb |
G |
T |
2: 52,122,288 (GRCm39) |
Y580* |
probably null |
Het |
Npat |
A |
G |
9: 53,473,791 (GRCm39) |
K528E |
probably benign |
Het |
Or1j4 |
A |
T |
2: 36,740,418 (GRCm39) |
Y120F |
possibly damaging |
Het |
Or4a72 |
A |
G |
2: 89,405,737 (GRCm39) |
V111A |
probably damaging |
Het |
Or5m3 |
A |
T |
2: 85,838,567 (GRCm39) |
Y149F |
probably damaging |
Het |
Parp8 |
G |
A |
13: 117,004,968 (GRCm39) |
|
probably benign |
Het |
Phf3 |
G |
A |
1: 30,850,928 (GRCm39) |
T1142M |
probably damaging |
Het |
Phospho1 |
G |
A |
11: 95,721,932 (GRCm39) |
V201M |
probably damaging |
Het |
Piezo1 |
A |
G |
8: 123,209,451 (GRCm39) |
F2371L |
probably benign |
Het |
Pitpnm1 |
T |
C |
19: 4,163,641 (GRCm39) |
S1209P |
probably damaging |
Het |
Pkd1 |
T |
A |
17: 24,787,658 (GRCm39) |
C20* |
probably null |
Het |
Prdm5 |
C |
A |
6: 65,808,340 (GRCm39) |
N95K |
probably damaging |
Het |
Prkx |
T |
C |
X: 76,809,010 (GRCm39) |
D270G |
probably damaging |
Het |
Ptgis |
A |
G |
2: 167,050,199 (GRCm39) |
V310A |
probably damaging |
Het |
Ptgis |
G |
A |
2: 167,056,730 (GRCm39) |
Q286* |
probably null |
Het |
Rpf1 |
T |
A |
3: 146,226,976 (GRCm39) |
N59I |
probably damaging |
Het |
Rpl3l |
A |
C |
17: 24,954,490 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
C |
T |
13: 11,866,074 (GRCm39) |
G292D |
possibly damaging |
Het |
Ryr3 |
G |
T |
2: 112,611,410 (GRCm39) |
N2257K |
probably benign |
Het |
Sla |
T |
C |
15: 66,654,404 (GRCm39) |
Y278C |
probably damaging |
Het |
Slc4a10 |
A |
T |
2: 62,064,725 (GRCm39) |
D193V |
probably damaging |
Het |
Spire2 |
T |
C |
8: 124,059,657 (GRCm39) |
C52R |
probably damaging |
Het |
Tada2b |
T |
C |
5: 36,641,250 (GRCm39) |
Y51C |
probably damaging |
Het |
Tarbp1 |
C |
T |
8: 127,154,853 (GRCm39) |
V1424I |
probably damaging |
Het |
Tbpl1 |
T |
A |
10: 22,583,576 (GRCm39) |
E131D |
probably damaging |
Het |
Tgfbrap1 |
A |
G |
1: 43,093,677 (GRCm39) |
|
probably null |
Het |
Tmem116 |
A |
G |
5: 121,627,317 (GRCm39) |
I151M |
possibly damaging |
Het |
Tmem30a |
T |
C |
9: 79,681,500 (GRCm39) |
D223G |
probably damaging |
Het |
Trim13 |
T |
A |
14: 61,842,335 (GRCm39) |
C117* |
probably null |
Het |
Ttn |
C |
G |
2: 76,585,676 (GRCm39) |
D21987H |
probably damaging |
Het |
Txnrd1 |
G |
A |
10: 82,713,207 (GRCm39) |
V90I |
probably benign |
Het |
Unc79 |
G |
A |
12: 103,137,830 (GRCm39) |
|
probably null |
Het |
Upp1 |
A |
T |
11: 9,083,240 (GRCm39) |
M111L |
possibly damaging |
Het |
Vmn2r79 |
G |
T |
7: 86,651,634 (GRCm39) |
L344F |
probably benign |
Het |
Vps39 |
T |
C |
2: 120,173,708 (GRCm39) |
Y147C |
probably damaging |
Het |
Wdr59 |
A |
G |
8: 112,193,425 (GRCm39) |
Y666H |
probably damaging |
Het |
Wdr95 |
A |
G |
5: 149,497,613 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTGTCGCTGAAATTAGTTAGC -3'
(R):5'- CCCTTGGGGCATTTATGACAG -3'
Sequencing Primer
(F):5'- GTCGCTGAAATTAGTTAGCCTTTC -3'
(R):5'- CTTGGGGCATTTATGACAGAGAGAG -3'
|
Posted On |
2014-08-25 |