Incidental Mutation 'R8868:Lrpprc'
| ID |
676113 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrpprc
|
| Ensembl Gene |
ENSMUSG00000024120 |
| Gene Name |
leucine-rich PPR-motif containing |
| Synonyms |
Lrp130, 3110001K13Rik |
| MMRRC Submission |
068683-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8868 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
85012675-85098214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85078920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 265
(G265C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112308]
|
| AlphaFold |
Q6PB66 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112308
AA Change: G265C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107927
Gene: ENSMUSG00000024120
AA Change: G265C
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (64/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad8 |
T |
A |
9: 26,890,544 (GRCm39) |
N255Y |
probably damaging |
Het |
| Accsl |
A |
C |
2: 93,696,490 (GRCm39) |
L36R |
probably benign |
Het |
| Acvr2a |
T |
A |
2: 48,763,469 (GRCm39) |
V171E |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,794,451 (GRCm39) |
I491V |
probably benign |
Het |
| Ak9 |
G |
A |
10: 41,193,842 (GRCm39) |
|
probably null |
Het |
| Ak9 |
G |
T |
10: 41,258,869 (GRCm39) |
E789* |
probably null |
Het |
| Akr1c19 |
T |
A |
13: 4,293,070 (GRCm39) |
N275K |
probably benign |
Het |
| Alg1 |
A |
G |
16: 5,061,557 (GRCm39) |
H398R |
probably benign |
Het |
| Apol11a |
T |
A |
15: 77,401,209 (GRCm39) |
I232N |
probably damaging |
Het |
| Cacnb2 |
A |
G |
2: 14,989,080 (GRCm39) |
I437V |
probably benign |
Het |
| Catsper4 |
A |
G |
4: 133,954,417 (GRCm39) |
|
probably null |
Het |
| Cdhr17 |
G |
A |
5: 17,028,152 (GRCm39) |
G449D |
probably benign |
Het |
| Crnn |
T |
C |
3: 93,055,609 (GRCm39) |
C132R |
probably benign |
Het |
| Cyp4a14 |
T |
A |
4: 115,348,553 (GRCm39) |
H337L |
probably damaging |
Het |
| Dcdc2a |
C |
T |
13: 25,386,266 (GRCm39) |
A380V |
probably benign |
Het |
| Dclre1b |
T |
C |
3: 103,710,654 (GRCm39) |
N419S |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,625,503 (GRCm39) |
D621G |
possibly damaging |
Het |
| Dmwd |
T |
A |
7: 18,814,694 (GRCm39) |
L448Q |
probably damaging |
Het |
| Dnajc13 |
G |
A |
9: 104,042,987 (GRCm39) |
H1922Y |
probably benign |
Het |
| E2f3 |
A |
T |
13: 30,095,301 (GRCm39) |
I329N |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,927,988 (GRCm39) |
V266M |
probably benign |
Het |
| Entpd2 |
A |
G |
2: 25,289,725 (GRCm39) |
T376A |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,908,671 (GRCm38) |
T1350A |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,016,077 (GRCm39) |
E999G |
unknown |
Het |
| Hivep1 |
A |
G |
13: 42,312,407 (GRCm39) |
Q1549R |
possibly damaging |
Het |
| Hps6 |
G |
A |
19: 45,992,446 (GRCm39) |
V128M |
possibly damaging |
Het |
| Ifi27l2a |
T |
C |
12: 103,402,899 (GRCm39) |
S66P |
possibly damaging |
Het |
| Ikbip |
T |
C |
10: 90,932,187 (GRCm39) |
V277A |
possibly damaging |
Het |
| Ints8 |
T |
C |
4: 11,230,488 (GRCm39) |
E451G |
probably benign |
Het |
| Itih2 |
A |
T |
2: 10,132,600 (GRCm39) |
S64T |
probably benign |
Het |
| Kcnc4 |
T |
A |
3: 107,355,452 (GRCm39) |
E332V |
probably damaging |
Het |
| Krt23 |
T |
C |
11: 99,374,567 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
G |
T |
1: 135,512,943 (GRCm39) |
A39E |
probably benign |
Het |
| Ogfod1 |
G |
T |
8: 94,773,906 (GRCm39) |
D103Y |
probably damaging |
Het |
| Or7g20 |
T |
G |
9: 18,946,778 (GRCm39) |
Y120D |
probably damaging |
Het |
| Or8b55 |
G |
A |
9: 38,727,285 (GRCm39) |
C162Y |
probably damaging |
Het |
| Or8g37 |
A |
G |
9: 39,731,252 (GRCm39) |
T106A |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,755,014 (GRCm39) |
S78T |
probably damaging |
Het |
| Rnf148 |
A |
T |
6: 23,654,540 (GRCm39) |
V152E |
probably damaging |
Het |
| Sdf2 |
A |
T |
11: 78,136,970 (GRCm39) |
H50L |
probably damaging |
Het |
| Sec1 |
T |
A |
7: 45,328,700 (GRCm39) |
M116L |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,496,114 (GRCm39) |
S53P |
probably damaging |
Het |
| Siae |
A |
G |
9: 37,528,132 (GRCm39) |
Y35C |
probably damaging |
Het |
| Slc18b1 |
A |
T |
10: 23,686,751 (GRCm39) |
Y189F |
probably damaging |
Het |
| Slc35d1 |
T |
C |
4: 103,065,351 (GRCm39) |
T177A |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,729,747 (GRCm39) |
T124A |
possibly damaging |
Het |
| Strn4 |
G |
A |
7: 16,560,570 (GRCm39) |
E241K |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,135,578 (GRCm39) |
I510T |
possibly damaging |
Het |
| Svop |
T |
C |
5: 114,170,854 (GRCm39) |
D395G |
probably damaging |
Het |
| Tbc1d14 |
A |
C |
5: 36,728,888 (GRCm39) |
S159R |
probably damaging |
Het |
| Tex50 |
T |
A |
1: 160,984,848 (GRCm39) |
I131F |
possibly damaging |
Het |
| Tssk1 |
A |
G |
16: 17,712,884 (GRCm39) |
K223R |
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,252,002 (GRCm39) |
I1565V |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,541,938 (GRCm39) |
F33683I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,783,470 (GRCm39) |
M887V |
unknown |
Het |
| Usp45 |
G |
A |
4: 21,815,399 (GRCm39) |
|
probably null |
Het |
| Wdr47 |
C |
T |
3: 108,498,841 (GRCm39) |
|
probably benign |
Het |
| Xirp1 |
A |
G |
9: 119,846,871 (GRCm39) |
S671P |
probably benign |
Het |
| Zbtb18 |
A |
G |
1: 177,274,682 (GRCm39) |
D5G |
probably benign |
Het |
| Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
| Zfp260 |
T |
G |
7: 29,804,914 (GRCm39) |
Y271* |
probably null |
Het |
| Zfp369 |
T |
A |
13: 65,445,082 (GRCm39) |
S742T |
possibly damaging |
Het |
| Zfp786 |
A |
T |
6: 47,802,015 (GRCm39) |
D87E |
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 |
|
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 |
|
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'- TTAAAACAGACGCAAGCTATGG -3'
(R):5'- GGGGATAGTTCCACAAGTTTAAAAG -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- CCTTTGGAATACTTCACAGG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation