Incidental Mutation 'R8798:Lcor'
| ID |
671412 |
| 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 |
068724-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.468)
|
| Stock # |
R8798 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
41471076-41574975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 41573698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 818
(R818W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172371]
|
| AlphaFold |
Q6ZPI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172371
AA Change: R818W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128083
Gene: ENSMUSG00000090673
AA Change: R818W
| 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 |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (74/74) |
| 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 |
|---|
| 1700011L22Rik |
G |
A |
8: 79,937,380 (GRCm39) |
R176* |
probably null |
Het |
| 4921539E11Rik |
A |
C |
4: 103,123,574 (GRCm39) |
|
probably benign |
Het |
| Abcc2 |
A |
G |
19: 43,797,105 (GRCm39) |
N492S |
probably benign |
Het |
| Acox1 |
T |
C |
11: 116,065,183 (GRCm39) |
Y624C |
probably damaging |
Het |
| Aff4 |
T |
C |
11: 53,291,335 (GRCm39) |
|
probably benign |
Het |
| Ak9 |
T |
A |
10: 41,258,847 (GRCm39) |
D781E |
|
Het |
| Arfgef3 |
T |
C |
10: 18,522,799 (GRCm39) |
D409G |
probably damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,414,645 (GRCm39) |
Y8N |
probably benign |
Het |
| Blnk |
A |
G |
19: 40,950,795 (GRCm39) |
Y119H |
probably damaging |
Het |
| Brsk2 |
T |
C |
7: 141,541,601 (GRCm39) |
L310P |
probably damaging |
Het |
| Cgas |
G |
A |
9: 78,350,348 (GRCm39) |
R5C |
probably benign |
Het |
| Cit |
T |
A |
5: 116,107,102 (GRCm39) |
L1078Q |
probably damaging |
Het |
| Cpn1 |
A |
T |
19: 43,974,675 (GRCm39) |
V18D |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 47,595,382 (GRCm39) |
Y1115N |
|
Het |
| Dnah9 |
A |
C |
11: 65,796,057 (GRCm39) |
V3589G |
probably damaging |
Het |
| Dpp9 |
T |
C |
17: 56,506,037 (GRCm39) |
Y454C |
probably damaging |
Het |
| Eif3i |
A |
G |
4: 129,490,717 (GRCm39) |
V67A |
probably benign |
Het |
| Eif6 |
T |
C |
2: 155,664,886 (GRCm39) |
N200S |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,051,605 (GRCm39) |
H502R |
possibly damaging |
Het |
| Fcer1a |
A |
G |
1: 173,053,047 (GRCm39) |
Y50H |
probably benign |
Het |
| Filip1 |
G |
A |
9: 79,727,372 (GRCm39) |
H416Y |
possibly damaging |
Het |
| Frmpd1 |
A |
T |
4: 45,285,424 (GRCm39) |
N1415I |
possibly damaging |
Het |
| Gdpgp1 |
C |
T |
7: 79,888,725 (GRCm39) |
P252L |
probably damaging |
Het |
| Gsap |
T |
C |
5: 21,476,248 (GRCm39) |
|
probably null |
Het |
| Hgs |
T |
C |
11: 120,370,938 (GRCm39) |
V598A |
probably benign |
Het |
| Irf2 |
G |
T |
8: 47,260,349 (GRCm39) |
V94L |
probably benign |
Het |
| Kalrn |
G |
T |
16: 33,803,225 (GRCm39) |
H2675Q |
possibly damaging |
Het |
| Klhl33 |
C |
A |
14: 51,130,565 (GRCm39) |
A50S |
possibly damaging |
Het |
| Klk1b11 |
T |
C |
7: 43,645,372 (GRCm39) |
I15T |
probably benign |
Het |
| Lrrn3 |
A |
G |
12: 41,503,174 (GRCm39) |
M381T |
possibly damaging |
Het |
| Ltbr |
A |
G |
6: 125,284,258 (GRCm39) |
Y395H |
probably benign |
Het |
| Ltf |
A |
G |
9: 110,852,828 (GRCm39) |
|
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,154,270 (GRCm39) |
F1059S |
probably benign |
Het |
| Lypd6 |
T |
A |
2: 50,078,774 (GRCm39) |
I90N |
possibly damaging |
Het |
| Map1a |
G |
A |
2: 121,132,768 (GRCm39) |
V1195M |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,978,191 (GRCm39) |
I1320F |
probably damaging |
Het |
| Mug2 |
A |
G |
6: 122,058,569 (GRCm39) |
T1324A |
probably damaging |
Het |
| Mylk |
G |
A |
16: 34,719,772 (GRCm39) |
V562M |
possibly damaging |
Het |
| Myo15b |
G |
A |
11: 115,754,232 (GRCm39) |
G911R |
|
Het |
| Neo1 |
A |
G |
9: 58,820,449 (GRCm39) |
Y825H |
probably damaging |
Het |
| Nfat5 |
T |
G |
8: 108,074,321 (GRCm39) |
V343G |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,330,887 (GRCm39) |
I503K |
possibly damaging |
Het |
| Or10d5 |
G |
A |
9: 39,862,013 (GRCm39) |
T18I |
probably benign |
Het |
| Or13d1 |
C |
A |
4: 52,970,790 (GRCm39) |
H56Q |
possibly damaging |
Het |
| Or5k16 |
A |
T |
16: 58,736,307 (GRCm39) |
D232E |
probably benign |
Het |
| Or8d2 |
G |
A |
9: 38,760,213 (GRCm39) |
E268K |
probably benign |
Het |
| Pdcl2 |
T |
C |
5: 76,472,947 (GRCm39) |
D7G |
probably damaging |
Het |
| Phyh |
C |
T |
2: 4,923,893 (GRCm39) |
R5C |
probably damaging |
Het |
| Prr11 |
A |
C |
11: 86,996,881 (GRCm39) |
S28A |
unknown |
Het |
| Psmd13 |
T |
A |
7: 140,477,663 (GRCm39) |
L190* |
probably null |
Het |
| Ptx4 |
A |
G |
17: 25,343,716 (GRCm39) |
D322G |
probably damaging |
Het |
| Rnf40 |
T |
C |
7: 127,188,954 (GRCm39) |
L109P |
probably damaging |
Het |
| Rrp1 |
T |
C |
10: 78,245,024 (GRCm39) |
T102A |
probably damaging |
Het |
| Sema4a |
T |
G |
3: 88,344,004 (GRCm39) |
D749A |
possibly damaging |
Het |
| Serpina3f |
A |
T |
12: 104,183,702 (GRCm39) |
D188V |
probably benign |
Het |
| Smarca5 |
C |
A |
8: 81,443,137 (GRCm39) |
A570S |
probably damaging |
Het |
| Spocd1 |
G |
C |
4: 129,823,997 (GRCm39) |
|
probably null |
Het |
| Stard9 |
G |
A |
2: 120,535,212 (GRCm39) |
G3823D |
probably benign |
Het |
| Suco |
A |
G |
1: 161,648,004 (GRCm39) |
L1094S |
probably damaging |
Het |
| Tcf7 |
T |
C |
11: 52,151,421 (GRCm39) |
D79G |
probably damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,228,605 (GRCm39) |
M39T |
probably damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,217,209 (GRCm39) |
N321S |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,437,217 (GRCm39) |
Y235* |
probably null |
Het |
| Tnfaip6 |
T |
C |
2: 51,933,824 (GRCm39) |
F60L |
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,572,620 (GRCm39) |
I411V |
probably benign |
Het |
| Trio |
A |
C |
15: 27,851,923 (GRCm39) |
V856G |
possibly damaging |
Het |
| Trpc2 |
C |
G |
7: 101,733,767 (GRCm39) |
R239G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,656,476 (GRCm39) |
V12502I |
unknown |
Het |
| Usf3 |
A |
G |
16: 44,040,536 (GRCm39) |
D1672G |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,236,436 (GRCm39) |
N1011S |
probably benign |
Het |
| Vac14 |
A |
G |
8: 111,446,519 (GRCm39) |
E756G |
probably benign |
Het |
| Vmn2r41 |
A |
G |
7: 8,164,522 (GRCm39) |
L10P |
probably damaging |
Het |
| Xrcc5 |
T |
C |
1: 72,353,337 (GRCm39) |
M115T |
probably damaging |
Het |
| Zfp1006 |
G |
A |
8: 129,945,779 (GRCm39) |
H349Y |
probably damaging |
Het |
| Zfp827 |
G |
A |
8: 79,916,463 (GRCm39) |
|
probably benign |
Het |
| Zmym1 |
A |
T |
4: 126,943,664 (GRCm39) |
N241K |
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 |
|
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 |
|
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 |
|
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'- TCGAATGCCTTGGACACTGC -3'
(R):5'- GAACCACTTACAGATGTTAGACAGC -3'
Sequencing Primer
(F):5'- TGCCTTGGACACTGCAAAAATG -3'
(R):5'- CAGCTTAAAGTTGGTCATAAACAGC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation