Incidental Mutation 'R7285:Lcor'
| ID |
565969 |
| 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 |
045393-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.560)
|
| Stock # |
R7285 (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 41572754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 503
(K503R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172371]
|
| AlphaFold |
Q6ZPI3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172371
AA Change: K503R
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128083
Gene: ENSMUSG00000090673
AA Change: K503R
| 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 |
0.0624 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (58/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,388,314 (GRCm39) |
C185* |
probably null |
Het |
| Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
| Adam1b |
T |
G |
5: 121,639,056 (GRCm39) |
D663A |
probably damaging |
Het |
| Arhgap12 |
A |
T |
18: 6,111,920 (GRCm39) |
L148Q |
probably damaging |
Het |
| Cdh4 |
A |
T |
2: 179,439,258 (GRCm39) |
Q135L |
probably benign |
Het |
| Clca3b |
T |
C |
3: 144,543,519 (GRCm39) |
I437V |
probably benign |
Het |
| Cldn15 |
A |
T |
5: 137,001,327 (GRCm39) |
H124L |
probably benign |
Het |
| Cyp4a30b |
T |
C |
4: 115,313,848 (GRCm39) |
M143T |
probably damaging |
Het |
| Dgcr2 |
A |
T |
16: 17,662,944 (GRCm39) |
C353* |
probably null |
Het |
| Dhcr24 |
T |
A |
4: 106,428,716 (GRCm39) |
|
probably null |
Het |
| Dock1 |
T |
G |
7: 134,346,737 (GRCm39) |
L223R |
probably benign |
Het |
| Ece1 |
T |
A |
4: 137,641,074 (GRCm39) |
|
probably null |
Het |
| Efcab5 |
A |
G |
11: 77,028,170 (GRCm39) |
V387A |
probably benign |
Het |
| Efcab5 |
A |
G |
11: 77,029,041 (GRCm39) |
F97L |
possibly damaging |
Het |
| Eme2 |
A |
T |
17: 25,113,543 (GRCm39) |
|
probably null |
Het |
| Enpp1 |
G |
A |
10: 24,536,059 (GRCm39) |
T447I |
probably benign |
Het |
| Fam222b |
T |
C |
11: 78,034,007 (GRCm39) |
S17P |
probably benign |
Het |
| Fbln1 |
A |
G |
15: 85,121,829 (GRCm39) |
I317V |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,676,498 (GRCm39) |
K578E |
probably damaging |
Het |
| Fscb |
A |
T |
12: 64,518,323 (GRCm39) |
S1048T |
unknown |
Het |
| Fsd1l |
T |
A |
4: 53,682,200 (GRCm39) |
|
probably null |
Het |
| Hexa |
T |
A |
9: 59,471,222 (GRCm39) |
I492K |
probably benign |
Het |
| Inpp5e |
G |
A |
2: 26,287,870 (GRCm39) |
A642V |
probably benign |
Het |
| Ints11 |
C |
T |
4: 155,970,568 (GRCm39) |
A241V |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,056,797 (GRCm39) |
L545P |
probably damaging |
Het |
| Katnal2 |
G |
A |
18: 77,081,271 (GRCm39) |
A409V |
probably benign |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Lbx2 |
A |
G |
6: 83,064,877 (GRCm39) |
K138R |
probably damaging |
Het |
| Lpp |
G |
A |
16: 24,796,029 (GRCm39) |
A558T |
probably damaging |
Het |
| Lypla1 |
T |
C |
1: 4,911,321 (GRCm39) |
I202T |
probably benign |
Het |
| Magi3 |
G |
A |
3: 103,941,430 (GRCm39) |
P842S |
probably benign |
Het |
| Meioc |
G |
A |
11: 102,557,168 (GRCm39) |
V25M |
probably benign |
Het |
| Mthfr |
C |
T |
4: 148,138,056 (GRCm39) |
T557I |
probably benign |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Or2t44 |
T |
A |
11: 58,677,310 (GRCm39) |
Y83* |
probably null |
Het |
| Or5d20-ps1 |
A |
T |
2: 87,932,049 (GRCm39) |
I94N |
probably damaging |
Het |
| Osbpl10 |
A |
T |
9: 115,052,771 (GRCm39) |
I440F |
probably damaging |
Het |
| Otx2 |
G |
A |
14: 48,898,922 (GRCm39) |
A36V |
probably benign |
Het |
| Parg |
A |
G |
14: 31,932,465 (GRCm39) |
Y435C |
probably damaging |
Het |
| Parvb |
A |
T |
15: 84,166,985 (GRCm39) |
D100V |
possibly damaging |
Het |
| Prss27 |
A |
G |
17: 24,264,665 (GRCm39) |
H276R |
probably benign |
Het |
| Prune1 |
T |
A |
3: 95,162,357 (GRCm39) |
S439C |
probably damaging |
Het |
| Pudp |
C |
G |
18: 50,701,287 (GRCm39) |
E149Q |
possibly damaging |
Het |
| Qng1 |
T |
C |
13: 58,532,199 (GRCm39) |
Y119C |
probably damaging |
Het |
| Sin3a |
C |
A |
9: 57,034,583 (GRCm39) |
T1252N |
possibly damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,787,471 (GRCm39) |
D927G |
probably benign |
Het |
| Stx18 |
C |
T |
5: 38,262,251 (GRCm39) |
T89I |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,310,610 (GRCm39) |
S175P |
possibly damaging |
Het |
| Tinag |
T |
C |
9: 76,952,943 (GRCm39) |
T14A |
probably benign |
Het |
| Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
G |
T |
7: 63,859,729 (GRCm39) |
E396* |
probably null |
Het |
| Txndc11 |
A |
G |
16: 10,902,163 (GRCm39) |
Y684H |
probably damaging |
Het |
| Usp47 |
G |
A |
7: 111,692,315 (GRCm39) |
E926K |
probably benign |
Het |
| Vmn1r233 |
A |
G |
17: 21,214,221 (GRCm39) |
I243T |
probably damaging |
Het |
| Ythdf3 |
T |
A |
3: 16,258,049 (GRCm39) |
|
probably null |
Het |
| Zfp12 |
A |
G |
5: 143,230,444 (GRCm39) |
K289R |
probably damaging |
Het |
| Zfp950 |
T |
A |
19: 61,107,550 (GRCm39) |
H511L |
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 |
|
R7051:Lcor
|
UTSW |
19 |
41,574,191 (GRCm39) |
missense |
probably benign |
0.05 |
|
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'- GTTGCTAGATGACTCCCTGC -3'
(R):5'- TCAATCACTGGTCCCTCGGATG -3'
Sequencing Primer
(F):5'- AGATGACTCCCTGCCCCTC -3'
(R):5'- TCGGATGTCACCCTACCAGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation