Incidental Mutation 'R1606:Lcor'
ID |
176522 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lcor
|
Ensembl Gene |
ENSMUSG00000025019 |
Gene Name |
ligand dependent nuclear receptor corepressor |
Synonyms |
LOC381224, A630025C20Rik, Gm340, 3110023F06Rik, Mlr2 |
MMRRC Submission |
039643-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.468)
|
Stock # |
R1606 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
41471076-41574975 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 41573513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 756
(M756R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128083
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172371]
|
AlphaFold |
Q6ZPI3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000172371
AA Change: M756R
PolyPhen 2
Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000128083 Gene: ENSMUSG00000090673 AA Change: M756R
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
17 |
N/A |
INTRINSIC |
low complexity region
|
438 |
450 |
N/A |
INTRINSIC |
low complexity region
|
710 |
724 |
N/A |
INTRINSIC |
low complexity region
|
768 |
779 |
N/A |
INTRINSIC |
Pfam:DUF4553
|
787 |
1241 |
9.7e-179 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183602
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LCOR is a transcriptional corepressor widely expressed in fetal and adult tissues that is recruited to agonist-bound nuclear receptors through a single LxxLL motif, also referred to as a nuclear receptor (NR) box (Fernandes et al., 2003 [PubMed 12535528]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
G |
19: 43,825,091 (GRCm39) |
D1459G |
probably damaging |
Het |
Adhfe1 |
G |
A |
1: 9,623,698 (GRCm39) |
|
probably null |
Het |
Adsl |
C |
T |
15: 80,836,425 (GRCm39) |
Q61* |
probably null |
Het |
Arhgap26 |
T |
A |
18: 39,429,925 (GRCm39) |
C214S |
probably damaging |
Het |
Armc8 |
A |
T |
9: 99,419,782 (GRCm39) |
N9K |
probably damaging |
Het |
Asxl1 |
A |
G |
2: 153,242,375 (GRCm39) |
D975G |
probably damaging |
Het |
Atp8b3 |
T |
C |
10: 80,368,412 (GRCm39) |
E187G |
probably damaging |
Het |
Bltp1 |
G |
A |
3: 36,996,548 (GRCm39) |
D1087N |
probably damaging |
Het |
Cdcp2 |
T |
C |
4: 106,959,710 (GRCm39) |
S42P |
probably damaging |
Het |
Chek1 |
A |
G |
9: 36,630,820 (GRCm39) |
L198P |
probably damaging |
Het |
Dlc1 |
A |
G |
8: 37,317,406 (GRCm39) |
V423A |
probably benign |
Het |
Dpy19l2 |
A |
G |
9: 24,492,511 (GRCm39) |
S696P |
probably benign |
Het |
Echdc3 |
A |
T |
2: 6,200,438 (GRCm39) |
C183S |
possibly damaging |
Het |
Exph5 |
A |
C |
9: 53,285,595 (GRCm39) |
D892A |
probably benign |
Het |
Fam120b |
T |
A |
17: 15,622,073 (GRCm39) |
I17K |
possibly damaging |
Het |
Fbln5 |
C |
T |
12: 101,731,457 (GRCm39) |
D246N |
probably benign |
Het |
Fbxo15 |
A |
C |
18: 84,980,745 (GRCm39) |
K195T |
possibly damaging |
Het |
Fzd1 |
C |
A |
5: 4,807,514 (GRCm39) |
E23* |
probably null |
Het |
Gas2l1 |
C |
A |
11: 5,014,434 (GRCm39) |
A9S |
probably damaging |
Het |
Gcc2 |
C |
T |
10: 58,105,270 (GRCm39) |
L69F |
probably damaging |
Het |
Ggt6 |
C |
T |
11: 72,328,559 (GRCm39) |
A353V |
possibly damaging |
Het |
Gphn |
T |
A |
12: 78,730,657 (GRCm39) |
V764E |
probably damaging |
Het |
Grid1 |
A |
T |
14: 35,167,922 (GRCm39) |
Y482F |
probably damaging |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Ifit1bl1 |
C |
T |
19: 34,571,444 (GRCm39) |
V338M |
probably benign |
Het |
Klhl14 |
T |
A |
18: 21,698,589 (GRCm39) |
Q408L |
possibly damaging |
Het |
Lacc1 |
T |
A |
14: 77,267,081 (GRCm39) |
Q394L |
probably benign |
Het |
Lipe |
A |
G |
7: 25,087,569 (GRCm39) |
F477L |
probably damaging |
Het |
Lrig2 |
A |
G |
3: 104,387,423 (GRCm39) |
|
probably null |
Het |
Megf8 |
T |
A |
7: 25,058,120 (GRCm39) |
H2131Q |
probably damaging |
Het |
Nek1 |
A |
G |
8: 61,577,310 (GRCm39) |
D1097G |
possibly damaging |
Het |
Nhlrc3 |
A |
T |
3: 53,366,078 (GRCm39) |
Y138* |
probably null |
Het |
Nudcd2 |
T |
A |
11: 40,626,834 (GRCm39) |
|
probably null |
Het |
Numb |
T |
C |
12: 83,847,784 (GRCm39) |
|
probably null |
Het |
Or7h8 |
T |
G |
9: 20,124,242 (GRCm39) |
L199R |
probably benign |
Het |
Pacrg |
G |
A |
17: 11,058,725 (GRCm39) |
Q11* |
probably null |
Het |
Ppp1r37 |
A |
T |
7: 19,268,924 (GRCm39) |
M192K |
probably damaging |
Het |
Prmt8 |
T |
A |
6: 127,666,799 (GRCm39) |
K392* |
probably null |
Het |
Rab28 |
A |
T |
5: 41,855,795 (GRCm39) |
W67R |
probably damaging |
Het |
Rad21l |
C |
T |
2: 151,496,606 (GRCm39) |
C365Y |
probably damaging |
Het |
Rbm17 |
A |
T |
2: 11,600,208 (GRCm39) |
F147I |
probably benign |
Het |
Rbm46 |
A |
C |
3: 82,771,848 (GRCm39) |
F256V |
probably damaging |
Het |
Rcc1 |
A |
T |
4: 132,062,087 (GRCm39) |
|
probably null |
Het |
Rnf217 |
G |
T |
10: 31,410,807 (GRCm39) |
T296N |
possibly damaging |
Het |
Rnmt |
A |
G |
18: 68,444,724 (GRCm39) |
D231G |
possibly damaging |
Het |
Rph3al |
C |
T |
11: 75,797,367 (GRCm39) |
V110I |
probably damaging |
Het |
Rxfp2 |
T |
C |
5: 149,983,362 (GRCm39) |
M289T |
probably benign |
Het |
Sash1 |
T |
C |
10: 8,605,721 (GRCm39) |
R890G |
probably benign |
Het |
Sf3b2 |
A |
T |
19: 5,338,026 (GRCm39) |
D245E |
probably benign |
Het |
Skint9 |
A |
T |
4: 112,246,398 (GRCm39) |
V238E |
probably benign |
Het |
Slc26a8 |
T |
A |
17: 28,857,455 (GRCm39) |
D896V |
possibly damaging |
Het |
Slc35b4 |
T |
A |
6: 34,135,323 (GRCm39) |
K330* |
probably null |
Het |
Slco1a4 |
G |
T |
6: 141,785,337 (GRCm39) |
H84Q |
probably damaging |
Het |
Sptbn2 |
G |
T |
19: 4,800,270 (GRCm39) |
|
probably null |
Het |
St6galnac3 |
A |
T |
3: 152,912,305 (GRCm39) |
D227E |
probably benign |
Het |
Tek |
G |
A |
4: 94,738,004 (GRCm39) |
D685N |
probably damaging |
Het |
Trf |
G |
T |
9: 103,102,335 (GRCm39) |
|
probably null |
Het |
Trpm5 |
T |
A |
7: 142,638,908 (GRCm39) |
K288* |
probably null |
Het |
Ttn |
C |
T |
2: 76,567,356 (GRCm39) |
V27846I |
probably damaging |
Het |
Tyr |
A |
T |
7: 87,087,179 (GRCm39) |
D444E |
probably benign |
Het |
Ucp1 |
C |
A |
8: 84,021,933 (GRCm39) |
A255E |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,491,963 (GRCm39) |
D3084G |
probably benign |
Het |
Yeats4 |
T |
C |
10: 117,053,344 (GRCm39) |
Y139C |
probably damaging |
Het |
Zbtb6 |
A |
G |
2: 37,319,130 (GRCm39) |
V266A |
probably benign |
Het |
Zfp784 |
A |
T |
7: 5,038,774 (GRCm39) |
N261K |
possibly damaging |
Het |
|
Other mutations in Lcor |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00737:Lcor
|
APN |
19 |
41,541,139 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02079:Lcor
|
APN |
19 |
41,544,126 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02100:Lcor
|
APN |
19 |
41,547,193 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02444:Lcor
|
APN |
19 |
41,547,450 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02578:Lcor
|
APN |
19 |
41,547,589 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03072:Lcor
|
APN |
19 |
41,547,253 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL03118:Lcor
|
APN |
19 |
41,546,808 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03153:Lcor
|
APN |
19 |
41,546,795 (GRCm39) |
missense |
probably damaging |
0.98 |
BB003:Lcor
|
UTSW |
19 |
41,571,008 (GRCm39) |
missense |
probably benign |
|
BB013:Lcor
|
UTSW |
19 |
41,571,008 (GRCm39) |
missense |
probably benign |
|
R0006:Lcor
|
UTSW |
19 |
41,573,338 (GRCm39) |
missense |
probably benign |
0.00 |
R0686:Lcor
|
UTSW |
19 |
41,570,811 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1104:Lcor
|
UTSW |
19 |
41,574,502 (GRCm39) |
missense |
probably damaging |
0.99 |
R1278:Lcor
|
UTSW |
19 |
41,573,122 (GRCm39) |
missense |
probably benign |
0.07 |
R1756:Lcor
|
UTSW |
19 |
41,547,705 (GRCm39) |
missense |
probably benign |
|
R1833:Lcor
|
UTSW |
19 |
41,573,387 (GRCm39) |
missense |
probably benign |
0.00 |
R1889:Lcor
|
UTSW |
19 |
41,547,567 (GRCm39) |
missense |
probably damaging |
0.99 |
R1905:Lcor
|
UTSW |
19 |
41,572,013 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1913:Lcor
|
UTSW |
19 |
41,546,913 (GRCm39) |
missense |
probably benign |
0.40 |
R1983:Lcor
|
UTSW |
19 |
41,546,806 (GRCm39) |
missense |
probably damaging |
0.98 |
R2697:Lcor
|
UTSW |
19 |
41,572,466 (GRCm39) |
missense |
probably benign |
0.43 |
R2881:Lcor
|
UTSW |
19 |
41,571,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R3885:Lcor
|
UTSW |
19 |
41,546,795 (GRCm39) |
missense |
probably damaging |
0.98 |
R3886:Lcor
|
UTSW |
19 |
41,546,795 (GRCm39) |
missense |
probably damaging |
0.98 |
R3888:Lcor
|
UTSW |
19 |
41,546,795 (GRCm39) |
missense |
probably damaging |
0.98 |
R3889:Lcor
|
UTSW |
19 |
41,546,795 (GRCm39) |
missense |
probably damaging |
0.98 |
R4720:Lcor
|
UTSW |
19 |
41,574,334 (GRCm39) |
missense |
probably benign |
0.04 |
R4864:Lcor
|
UTSW |
19 |
41,573,803 (GRCm39) |
missense |
probably benign |
|
R4908:Lcor
|
UTSW |
19 |
41,572,601 (GRCm39) |
missense |
probably benign |
0.00 |
R5160:Lcor
|
UTSW |
19 |
41,544,053 (GRCm39) |
missense |
probably damaging |
0.99 |
R5193:Lcor
|
UTSW |
19 |
41,570,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R5215:Lcor
|
UTSW |
19 |
41,574,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R5276:Lcor
|
UTSW |
19 |
41,573,478 (GRCm39) |
missense |
probably damaging |
0.98 |
R5319:Lcor
|
UTSW |
19 |
41,574,791 (GRCm39) |
missense |
probably damaging |
0.99 |
R5321:Lcor
|
UTSW |
19 |
41,573,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R5432:Lcor
|
UTSW |
19 |
41,573,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R5605:Lcor
|
UTSW |
19 |
41,571,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R5941:Lcor
|
UTSW |
19 |
41,574,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R6020:Lcor
|
UTSW |
19 |
41,571,986 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6024:Lcor
|
UTSW |
19 |
41,572,396 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6112:Lcor
|
UTSW |
19 |
41,547,520 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6149:Lcor
|
UTSW |
19 |
41,573,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R6260:Lcor
|
UTSW |
19 |
41,570,810 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6260:Lcor
|
UTSW |
19 |
41,570,809 (GRCm39) |
missense |
probably null |
0.91 |
R6476:Lcor
|
UTSW |
19 |
41,571,518 (GRCm39) |
missense |
probably benign |
0.04 |
R7051:Lcor
|
UTSW |
19 |
41,574,191 (GRCm39) |
missense |
probably benign |
0.05 |
R7285:Lcor
|
UTSW |
19 |
41,572,754 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7372:Lcor
|
UTSW |
19 |
41,573,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R7762:Lcor
|
UTSW |
19 |
41,572,106 (GRCm39) |
missense |
probably benign |
0.02 |
R7777:Lcor
|
UTSW |
19 |
41,547,234 (GRCm39) |
missense |
probably benign |
0.33 |
R7833:Lcor
|
UTSW |
19 |
41,573,024 (GRCm39) |
missense |
probably benign |
0.02 |
R7926:Lcor
|
UTSW |
19 |
41,571,008 (GRCm39) |
missense |
probably benign |
|
R8164:Lcor
|
UTSW |
19 |
41,573,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R8319:Lcor
|
UTSW |
19 |
41,571,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R8323:Lcor
|
UTSW |
19 |
41,572,036 (GRCm39) |
missense |
probably benign |
0.01 |
R8327:Lcor
|
UTSW |
19 |
41,570,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R8423:Lcor
|
UTSW |
19 |
41,573,888 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8556:Lcor
|
UTSW |
19 |
41,546,863 (GRCm39) |
frame shift |
probably null |
|
R8780:Lcor
|
UTSW |
19 |
41,573,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R8781:Lcor
|
UTSW |
19 |
41,573,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R8788:Lcor
|
UTSW |
19 |
41,573,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R8798:Lcor
|
UTSW |
19 |
41,573,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R9013:Lcor
|
UTSW |
19 |
41,573,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R9035:Lcor
|
UTSW |
19 |
41,573,399 (GRCm39) |
missense |
probably benign |
0.00 |
R9065:Lcor
|
UTSW |
19 |
41,573,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R9067:Lcor
|
UTSW |
19 |
41,573,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R9083:Lcor
|
UTSW |
19 |
41,574,839 (GRCm39) |
missense |
probably damaging |
0.99 |
R9105:Lcor
|
UTSW |
19 |
41,573,311 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9487:Lcor
|
UTSW |
19 |
41,573,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R9573:Lcor
|
UTSW |
19 |
41,573,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R9704:Lcor
|
UTSW |
19 |
41,572,498 (GRCm39) |
missense |
possibly damaging |
0.61 |
X0013:Lcor
|
UTSW |
19 |
41,572,971 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATAAAGATGATGCTGGCCTCGC -3'
(R):5'- GGAGAAAACTTTTGCACCTCCAACG -3'
Sequencing Primer
(F):5'- GCTCCATGTAGCTCATCTGG -3'
(R):5'- AAATCTCCTTCAGCTTGTCAGAC -3'
|
Posted On |
2014-04-24 |