Incidental Mutation 'R7051:Lcor'
ID |
547631 |
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 |
045148-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.560)
|
Stock # |
R7051 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
41471076-41574975 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41574191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 982
(D982G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128083
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172371]
|
AlphaFold |
Q6ZPI3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000172371
AA Change: D982G
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000128083 Gene: ENSMUSG00000090673 AA Change: D982G
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 |
|
Meta Mutation Damage Score |
0.0619 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
95% (80/84) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5930422O12Rik |
C |
T |
8: 33,919,201 (GRCm39) |
S7L |
unknown |
Het |
Aggf1 |
T |
C |
13: 95,488,125 (GRCm39) |
K674R |
possibly damaging |
Het |
Ampd1 |
T |
C |
3: 102,997,389 (GRCm39) |
F264L |
probably damaging |
Het |
Ankle1 |
A |
T |
8: 71,860,387 (GRCm39) |
S302C |
probably damaging |
Het |
Ankrd17 |
G |
A |
5: 90,514,310 (GRCm39) |
|
probably benign |
Het |
Arhgap18 |
T |
A |
10: 26,725,917 (GRCm39) |
N47K |
possibly damaging |
Het |
Atp5pb |
T |
C |
3: 105,851,083 (GRCm39) |
N205D |
probably benign |
Het |
Atp8b3 |
C |
T |
10: 80,355,858 (GRCm39) |
E1285K |
probably benign |
Het |
Atp8b3 |
C |
A |
10: 80,365,552 (GRCm39) |
V401L |
probably damaging |
Het |
Cacna1a |
G |
A |
8: 85,356,544 (GRCm39) |
R1929Q |
possibly damaging |
Het |
Cadm2 |
C |
T |
16: 66,679,767 (GRCm39) |
S22N |
possibly damaging |
Het |
Ccdc177 |
C |
T |
12: 80,805,927 (GRCm39) |
V116M |
probably damaging |
Het |
Cdhr18 |
A |
G |
14: 13,828,486 (GRCm38) |
V758A |
|
Het |
Cdkl2 |
A |
T |
5: 92,181,084 (GRCm39) |
I185N |
probably damaging |
Het |
Cfhr2 |
T |
A |
1: 139,738,716 (GRCm39) |
I282L |
probably benign |
Het |
Clns1a |
T |
A |
7: 97,361,824 (GRCm39) |
|
probably null |
Het |
Commd2 |
A |
T |
3: 57,554,107 (GRCm39) |
I198N |
probably damaging |
Het |
Creb3l2 |
C |
T |
6: 37,313,200 (GRCm39) |
V365I |
possibly damaging |
Het |
Dcaf6 |
A |
T |
1: 165,251,886 (GRCm39) |
N79K |
possibly damaging |
Het |
Dlg5 |
T |
C |
14: 24,196,263 (GRCm39) |
N1622D |
possibly damaging |
Het |
Dock7 |
C |
T |
4: 98,834,969 (GRCm39) |
R1802H |
probably damaging |
Het |
Dpy19l2 |
T |
C |
9: 24,495,789 (GRCm39) |
K643R |
probably benign |
Het |
Dscam |
G |
A |
16: 96,620,986 (GRCm39) |
T574M |
probably benign |
Het |
Fam209 |
A |
G |
2: 172,315,969 (GRCm39) |
T115A |
probably damaging |
Het |
Fastkd5 |
C |
T |
2: 130,456,337 (GRCm39) |
C751Y |
probably damaging |
Het |
Fat3 |
C |
A |
9: 16,289,123 (GRCm39) |
L133F |
probably damaging |
Het |
Fcsk |
A |
T |
8: 111,616,971 (GRCm39) |
I393N |
probably damaging |
Het |
Frmd6 |
T |
C |
12: 70,944,170 (GRCm39) |
V516A |
possibly damaging |
Het |
Fry |
G |
A |
5: 150,318,634 (GRCm39) |
D955N |
possibly damaging |
Het |
Gm7298 |
T |
C |
6: 121,751,993 (GRCm39) |
|
probably null |
Het |
Golga7b |
T |
A |
19: 42,256,899 (GRCm39) |
*168R |
probably null |
Het |
Golim4 |
T |
A |
3: 75,800,309 (GRCm39) |
Q395L |
probably benign |
Het |
Gxylt2 |
T |
A |
6: 100,781,537 (GRCm39) |
L404* |
probably null |
Het |
H1f4 |
A |
G |
13: 23,806,422 (GRCm39) |
V20A |
probably benign |
Het |
Ighmbp2 |
G |
T |
19: 3,311,462 (GRCm39) |
S984R |
probably damaging |
Het |
Irf8 |
C |
T |
8: 121,466,581 (GRCm39) |
R9W |
probably damaging |
Het |
Itga4 |
T |
C |
2: 79,148,470 (GRCm39) |
V788A |
possibly damaging |
Het |
Kifap3 |
G |
A |
1: 163,621,649 (GRCm39) |
R99H |
probably damaging |
Het |
Kiss1r |
T |
C |
10: 79,754,688 (GRCm39) |
S61P |
probably damaging |
Het |
Krtap6-1 |
A |
T |
16: 88,828,606 (GRCm39) |
M1L |
unknown |
Het |
Large2 |
A |
T |
2: 92,197,367 (GRCm39) |
M411K |
probably damaging |
Het |
Lingo1 |
A |
G |
9: 56,527,467 (GRCm39) |
V374A |
probably benign |
Het |
Lrch1 |
A |
G |
14: 75,022,962 (GRCm39) |
V637A |
probably damaging |
Het |
Lyar |
T |
C |
5: 38,382,024 (GRCm39) |
V2A |
probably damaging |
Het |
Nell1 |
C |
T |
7: 50,098,592 (GRCm39) |
S298L |
unknown |
Het |
Ogfod3 |
T |
A |
11: 121,086,031 (GRCm39) |
I188F |
probably damaging |
Het |
Opa3 |
C |
A |
7: 18,978,961 (GRCm39) |
A142E |
possibly damaging |
Het |
Or5b123 |
T |
A |
19: 13,596,769 (GRCm39) |
M81K |
possibly damaging |
Het |
Or5k1 |
T |
C |
16: 58,617,538 (GRCm39) |
T224A |
probably benign |
Het |
Pald1 |
T |
C |
10: 61,159,125 (GRCm39) |
R769G |
probably benign |
Het |
Pappa2 |
T |
A |
1: 158,784,753 (GRCm39) |
T86S |
unknown |
Het |
Papss1 |
T |
C |
3: 131,307,811 (GRCm39) |
Y266H |
probably damaging |
Het |
Pcdhga7 |
C |
A |
18: 37,849,994 (GRCm39) |
A667D |
probably damaging |
Het |
Pcsk5 |
T |
A |
19: 17,411,095 (GRCm39) |
T1766S |
probably benign |
Het |
Pds5b |
T |
A |
5: 150,717,747 (GRCm39) |
N1129K |
possibly damaging |
Het |
Pop7 |
T |
C |
5: 137,499,952 (GRCm39) |
N127S |
probably damaging |
Het |
Ppfibp2 |
A |
G |
7: 107,316,925 (GRCm39) |
E300G |
probably damaging |
Het |
Ppp4r3b |
A |
G |
11: 29,132,507 (GRCm39) |
K87E |
probably damaging |
Het |
Psmd3 |
T |
A |
11: 98,573,659 (GRCm39) |
M35K |
possibly damaging |
Het |
Pus7 |
A |
G |
5: 23,980,677 (GRCm39) |
V191A |
probably damaging |
Het |
Rptor |
C |
T |
11: 119,765,012 (GRCm39) |
|
probably benign |
Het |
Sacs |
A |
G |
14: 61,446,377 (GRCm39) |
M2808V |
probably benign |
Het |
Scube3 |
G |
A |
17: 28,386,573 (GRCm39) |
V831I |
probably benign |
Het |
Sin3a |
A |
T |
9: 57,011,218 (GRCm39) |
N492Y |
probably damaging |
Het |
Slc12a3 |
A |
G |
8: 95,092,572 (GRCm39) |
T998A |
probably damaging |
Het |
Slc4a1 |
T |
C |
11: 102,247,084 (GRCm39) |
N501S |
probably benign |
Het |
Sltm |
G |
A |
9: 70,466,348 (GRCm39) |
G94R |
probably damaging |
Het |
Smc4 |
T |
A |
3: 68,934,835 (GRCm39) |
W650R |
probably damaging |
Het |
Smg7 |
A |
G |
1: 152,724,601 (GRCm39) |
S527P |
probably damaging |
Het |
Tcf20 |
T |
C |
15: 82,740,279 (GRCm39) |
N391D |
probably damaging |
Het |
Tiam2 |
G |
A |
17: 3,498,758 (GRCm39) |
V845M |
probably damaging |
Het |
Tln2 |
A |
G |
9: 67,253,699 (GRCm39) |
F793L |
probably benign |
Het |
Uckl1 |
T |
C |
2: 181,216,037 (GRCm39) |
I193V |
probably damaging |
Het |
Ugt1a5 |
A |
G |
1: 88,094,077 (GRCm39) |
M102V |
probably benign |
Het |
Usp38 |
G |
A |
8: 81,727,750 (GRCm39) |
P328S |
possibly damaging |
Het |
Vmn1r189 |
A |
G |
13: 22,286,285 (GRCm39) |
V184A |
possibly damaging |
Het |
Vps13d |
C |
A |
4: 144,889,914 (GRCm39) |
A597S |
probably benign |
Het |
Wdr47 |
T |
A |
3: 108,525,840 (GRCm39) |
L121Q |
probably damaging |
Het |
Wiz |
A |
G |
17: 32,580,507 (GRCm39) |
S315P |
probably damaging |
Het |
Zc3h13 |
T |
C |
14: 75,568,597 (GRCm39) |
S1297P |
probably damaging |
Het |
Zfp27 |
AATCCGCTTGTGCA |
AA |
7: 29,594,446 (GRCm39) |
|
probably benign |
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 |
R1606:Lcor
|
UTSW |
19 |
41,573,513 (GRCm39) |
missense |
probably benign |
0.35 |
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 |
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'- AACACCCTCTTCAGAAGTTTCC -3'
(R):5'- GACATGAGCGGGTTAATGCAC -3'
Sequencing Primer
(F):5'- ACCATGTACCCTAGTTCACTACAGG -3'
(R):5'- CGGGTTAATGCACACGCTCTTG -3'
|
Posted On |
2019-05-13 |