Incidental Mutation 'R6020:Lcor'
| ID |
478909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lcor
|
| Ensembl Gene |
ENSMUSG00000025019 |
| Gene Name |
ligand dependent nuclear receptor corepressor |
| Synonyms |
LOC381224, A630025C20Rik, Gm340, 3110023F06Rik, Mlr2 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.560)
|
| Stock # |
R6020 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
41471076-41574975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 41571986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 247
(G247D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172371]
|
| AlphaFold |
Q6ZPI3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172371
AA Change: G247D
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128083
Gene: ENSMUSG00000090673
AA Change: G247D
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
C |
A |
11: 110,036,439 (GRCm39) |
V557F |
possibly damaging |
Het |
| Abi3 |
A |
T |
11: 95,732,851 (GRCm39) |
L41* |
probably null |
Het |
| Actn1 |
C |
A |
12: 80,221,229 (GRCm39) |
|
probably null |
Het |
| Adamts15 |
G |
T |
9: 30,813,358 (GRCm39) |
R936S |
probably benign |
Het |
| Angel2 |
T |
C |
1: 190,665,068 (GRCm39) |
S22P |
probably benign |
Het |
| Ank2 |
T |
G |
3: 126,740,470 (GRCm39) |
|
probably benign |
Het |
| Astn1 |
A |
G |
1: 158,337,563 (GRCm39) |
D423G |
probably damaging |
Het |
| Casp9 |
A |
G |
4: 141,523,849 (GRCm39) |
D78G |
probably damaging |
Het |
| Cbr4 |
A |
G |
8: 61,940,887 (GRCm39) |
D2G |
probably benign |
Het |
| Ccdc8 |
T |
A |
7: 16,730,506 (GRCm39) |
L665H |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,167,105 (GRCm39) |
N1847I |
probably damaging |
Het |
| Cnst |
T |
C |
1: 179,437,440 (GRCm39) |
W335R |
probably benign |
Het |
| Ddr2 |
T |
A |
1: 169,832,671 (GRCm39) |
I130F |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,391,665 (GRCm39) |
A677T |
probably benign |
Het |
| Dzip3 |
C |
A |
16: 48,772,205 (GRCm39) |
W488L |
probably damaging |
Het |
| Ephb3 |
T |
G |
16: 21,040,763 (GRCm39) |
I637S |
probably damaging |
Het |
| Etv3 |
A |
G |
3: 87,436,671 (GRCm39) |
D142G |
probably benign |
Het |
| Fabp5 |
C |
T |
3: 10,081,149 (GRCm39) |
T126I |
probably benign |
Het |
| Fam13b |
A |
C |
18: 34,627,827 (GRCm39) |
Y125D |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,822,471 (GRCm39) |
P6068Q |
probably damaging |
Het |
| Gm11232 |
A |
G |
4: 71,674,905 (GRCm39) |
F199S |
possibly damaging |
Het |
| Gm5493 |
A |
G |
17: 22,967,034 (GRCm39) |
K57E |
probably benign |
Het |
| Gm7334 |
A |
G |
17: 51,006,265 (GRCm39) |
M184V |
probably benign |
Het |
| Gm9894 |
T |
C |
13: 67,911,954 (GRCm39) |
|
noncoding transcript |
Het |
| Gpd2 |
T |
A |
2: 57,254,525 (GRCm39) |
N674K |
probably benign |
Het |
| H2-M10.6 |
A |
G |
17: 37,123,959 (GRCm39) |
Y141C |
probably damaging |
Het |
| Heatr5a |
C |
T |
12: 51,931,110 (GRCm39) |
E1796K |
probably benign |
Het |
| Hexim2 |
A |
G |
11: 103,029,118 (GRCm39) |
T57A |
probably benign |
Het |
| Hrg |
A |
T |
16: 22,773,268 (GRCm39) |
N134Y |
probably damaging |
Het |
| Hsd17b12 |
T |
C |
2: 93,864,322 (GRCm39) |
T262A |
probably damaging |
Het |
| Irak3 |
G |
T |
10: 119,979,042 (GRCm39) |
P470T |
probably damaging |
Het |
| Itgbl1 |
A |
T |
14: 124,083,977 (GRCm39) |
D285V |
probably damaging |
Het |
| Kcp |
A |
T |
6: 29,502,863 (GRCm39) |
V164E |
probably benign |
Het |
| Klhdc7b |
T |
A |
15: 89,272,589 (GRCm39) |
M1157K |
probably damaging |
Het |
| Mdc1 |
G |
A |
17: 36,159,525 (GRCm39) |
G635D |
probably benign |
Het |
| Mdc1 |
A |
G |
17: 36,168,464 (GRCm39) |
K1690R |
probably benign |
Het |
| Mpp3 |
A |
T |
11: 101,909,365 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
G |
T |
5: 125,097,075 (GRCm39) |
H2285N |
probably benign |
Het |
| Neb |
T |
A |
2: 52,147,839 (GRCm39) |
T2727S |
probably benign |
Het |
| Nkx6-2 |
T |
C |
7: 139,161,483 (GRCm39) |
D234G |
possibly damaging |
Het |
| Nlrp9c |
T |
C |
7: 26,084,150 (GRCm39) |
I476M |
probably benign |
Het |
| Nrsn1 |
T |
G |
13: 25,437,355 (GRCm39) |
Q191P |
probably damaging |
Het |
| Or14j10 |
A |
T |
17: 37,934,858 (GRCm39) |
S223T |
possibly damaging |
Het |
| Or1e30 |
C |
T |
11: 73,678,378 (GRCm39) |
L205F |
probably benign |
Het |
| Or51ag1 |
T |
A |
7: 103,156,006 (GRCm39) |
H49L |
probably benign |
Het |
| Patl1 |
T |
G |
19: 11,914,718 (GRCm39) |
L623R |
probably damaging |
Het |
| Pdc |
T |
C |
1: 150,209,117 (GRCm39) |
I200T |
probably benign |
Het |
| Pdzk1 |
A |
G |
3: 96,775,742 (GRCm39) |
D370G |
probably benign |
Het |
| Pglyrp3 |
A |
T |
3: 91,938,841 (GRCm39) |
I339F |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,945,679 (GRCm39) |
V2070A |
probably damaging |
Het |
| Poln |
G |
A |
5: 34,266,775 (GRCm39) |
R461C |
probably damaging |
Het |
| Prl2b1 |
C |
A |
13: 27,567,491 (GRCm39) |
V218L |
probably damaging |
Het |
| Pygl |
T |
C |
12: 70,263,428 (GRCm39) |
D55G |
probably damaging |
Het |
| Rif1 |
C |
G |
2: 51,985,856 (GRCm39) |
L614V |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rsrp1 |
T |
C |
4: 134,651,692 (GRCm39) |
F152S |
probably damaging |
Het |
| Sim2 |
T |
C |
16: 93,898,110 (GRCm39) |
S115P |
probably damaging |
Het |
| Slc17a1 |
T |
A |
13: 24,059,593 (GRCm39) |
I108K |
possibly damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,189,054 (GRCm39) |
D223G |
probably damaging |
Het |
| Slc39a4 |
A |
T |
15: 76,500,342 (GRCm39) |
N69K |
probably benign |
Het |
| Slc51a |
T |
G |
16: 32,298,584 (GRCm39) |
T58P |
probably damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,278,261 (GRCm39) |
H448R |
probably benign |
Het |
| Smc3 |
G |
A |
19: 53,613,594 (GRCm39) |
|
probably null |
Het |
| Sox6 |
A |
T |
7: 115,085,863 (GRCm39) |
D659E |
probably damaging |
Het |
| Stard9 |
GCCC |
GCC |
2: 120,524,196 (GRCm39) |
|
probably null |
Het |
| Tsr1 |
C |
T |
11: 74,791,119 (GRCm39) |
|
probably null |
Het |
| Ttc12 |
T |
C |
9: 49,354,422 (GRCm39) |
K565E |
probably damaging |
Het |
| Ube4b |
A |
T |
4: 149,452,768 (GRCm39) |
V386E |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,460,293 (GRCm39) |
|
probably null |
Het |
| Usp5 |
C |
A |
6: 124,794,576 (GRCm39) |
|
probably benign |
Het |
| Vmn1r216 |
T |
C |
13: 23,284,105 (GRCm39) |
F263L |
probably benign |
Het |
| Vmn2r88 |
T |
A |
14: 51,655,606 (GRCm39) |
L606* |
probably null |
Het |
| Wee2 |
T |
A |
6: 40,426,554 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
T |
C |
8: 109,519,159 (GRCm39) |
Y94H |
probably damaging |
Het |
| Zfp385c |
G |
A |
11: 100,523,594 (GRCm39) |
P120L |
probably benign |
Het |
| Zscan4-ps3 |
T |
C |
7: 11,344,228 (GRCm39) |
F62S |
probably 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 |
|
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 |
|
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'- AGGTGCACAACTTCCTAGAGTAG -3'
(R):5'- TTCTGGCACCTCAGACATATTG -3'
Sequencing Primer
(F):5'- AGAGTAGATGTCCAGCTTTCCTCAG -3'
(R):5'- GAGGCATGCTGGGCTAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation