Incidental Mutation 'R9013:Lcor'
| ID |
685805 |
| 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 |
068843-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.468)
|
| Stock # |
R9013 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
41471076-41574975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41573189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 648
(V648D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172371]
|
| AlphaFold |
Q6ZPI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172371
AA Change: V648D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128083
Gene: ENSMUSG00000090673
AA Change: V648D
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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 |
|---|
| 9930012K11Rik |
G |
T |
14: 70,394,176 (GRCm39) |
L200I |
probably damaging |
Het |
| Afap1 |
G |
A |
5: 36,133,932 (GRCm39) |
D456N |
possibly damaging |
Het |
| Afm |
A |
T |
5: 90,671,594 (GRCm39) |
D92V |
probably damaging |
Het |
| Ahi1 |
T |
C |
10: 20,883,658 (GRCm39) |
I841T |
probably benign |
Het |
| Asb1 |
T |
C |
1: 91,480,163 (GRCm39) |
|
probably null |
Het |
| Astn1 |
A |
T |
1: 158,348,070 (GRCm39) |
I507F |
probably damaging |
Het |
| Astn2 |
A |
G |
4: 65,910,584 (GRCm39) |
M468T |
probably benign |
Het |
| C030006K11Rik |
T |
C |
15: 76,608,004 (GRCm39) |
S5G |
probably benign |
Het |
| C9 |
A |
T |
15: 6,516,193 (GRCm39) |
D332V |
probably damaging |
Het |
| Cacna1c |
A |
T |
6: 118,719,266 (GRCm39) |
S423T |
probably damaging |
Het |
| Cbx8 |
T |
C |
11: 118,929,649 (GRCm39) |
I315V |
possibly damaging |
Het |
| Ccdc50 |
T |
A |
16: 27,228,106 (GRCm39) |
I91N |
probably damaging |
Het |
| Col4a1 |
T |
A |
8: 11,272,270 (GRCm39) |
I707L |
probably benign |
Het |
| Cyc1 |
T |
C |
15: 76,229,019 (GRCm39) |
V154A |
possibly damaging |
Het |
| Cyp4f40 |
A |
T |
17: 32,890,173 (GRCm39) |
H281L |
probably benign |
Het |
| D130052B06Rik |
T |
G |
11: 33,573,491 (GRCm39) |
C74W |
unknown |
Het |
| Dap |
G |
A |
15: 31,273,344 (GRCm39) |
G66D |
probably damaging |
Het |
| Dclk3 |
A |
T |
9: 111,297,566 (GRCm39) |
H370L |
probably benign |
Het |
| Dgka |
C |
A |
10: 128,566,071 (GRCm39) |
E360* |
probably null |
Het |
| Dst |
A |
G |
1: 34,217,165 (GRCm39) |
I1202V |
possibly damaging |
Het |
| Fzd10 |
C |
G |
5: 128,679,369 (GRCm39) |
P363R |
probably damaging |
Het |
| Gpx2 |
A |
G |
12: 76,842,118 (GRCm39) |
L11P |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,789,970 (GRCm39) |
L26S |
probably damaging |
Het |
| Gtpbp2 |
A |
G |
17: 46,475,740 (GRCm39) |
K163R |
probably benign |
Het |
| Hsd3b1 |
A |
T |
3: 98,759,977 (GRCm39) |
L338Q |
probably damaging |
Het |
| Il15ra |
A |
G |
2: 11,732,576 (GRCm39) |
S67G |
probably benign |
Het |
| Kcnc2 |
C |
T |
10: 112,107,723 (GRCm39) |
A38V |
probably damaging |
Het |
| Kif19b |
A |
T |
5: 140,449,368 (GRCm39) |
Y180F |
probably damaging |
Het |
| Klk1b16 |
A |
G |
7: 43,790,332 (GRCm39) |
D169G |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,761,208 (GRCm39) |
K214E |
probably damaging |
Het |
| Lrriq1 |
C |
T |
10: 103,050,931 (GRCm39) |
G607D |
probably damaging |
Het |
| Lysmd3 |
T |
A |
13: 81,817,580 (GRCm39) |
S186T |
probably damaging |
Het |
| Meis1 |
G |
T |
11: 18,966,354 (GRCm39) |
D6E |
probably benign |
Het |
| Mfsd4b2 |
T |
G |
10: 39,798,062 (GRCm39) |
T98P |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,424,069 (GRCm39) |
E8193V |
possibly damaging |
Het |
| Nr1i3 |
A |
G |
1: 171,042,026 (GRCm39) |
T37A |
probably damaging |
Het |
| Nr5a2 |
A |
T |
1: 136,872,745 (GRCm39) |
D112E |
probably damaging |
Het |
| Oas1c |
A |
G |
5: 120,943,497 (GRCm39) |
I214T |
probably damaging |
Het |
| Omp |
A |
G |
7: 97,794,552 (GRCm39) |
M25T |
probably benign |
Het |
| Or12d17 |
G |
A |
17: 37,777,441 (GRCm39) |
V115M |
probably benign |
Het |
| Or12j4 |
A |
T |
7: 140,046,179 (GRCm39) |
R22W |
probably benign |
Het |
| Or13c9 |
C |
A |
4: 52,935,900 (GRCm39) |
A128S |
probably benign |
Het |
| Or5p58 |
A |
G |
7: 107,694,471 (GRCm39) |
I102T |
probably benign |
Het |
| Or6c210 |
T |
C |
10: 129,495,702 (GRCm39) |
F9S |
probably damaging |
Het |
| Or7g12 |
A |
T |
9: 18,899,874 (GRCm39) |
I197F |
possibly damaging |
Het |
| Paf1 |
A |
G |
7: 28,098,133 (GRCm39) |
E381G |
unknown |
Het |
| Pcdhga8 |
A |
G |
18: 37,858,997 (GRCm39) |
T18A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,727,627 (GRCm39) |
S2162P |
unknown |
Het |
| Psg25 |
T |
C |
7: 18,258,690 (GRCm39) |
I329V |
probably benign |
Het |
| Ptov1 |
A |
G |
7: 44,514,985 (GRCm39) |
S209P |
possibly damaging |
Het |
| Ralgapb |
A |
G |
2: 158,279,060 (GRCm39) |
K397E |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,618,618 (GRCm39) |
T3866S |
probably damaging |
Het |
| Sdccag8 |
G |
A |
1: 176,652,371 (GRCm39) |
V41I |
probably benign |
Het |
| Sdf2l1 |
T |
A |
16: 16,948,630 (GRCm39) |
D136V |
possibly damaging |
Het |
| Slc26a7 |
A |
T |
4: 14,506,514 (GRCm39) |
S612T |
probably damaging |
Het |
| Snf8 |
T |
C |
11: 95,930,126 (GRCm39) |
F43L |
probably benign |
Het |
| Snta1 |
A |
T |
2: 154,245,809 (GRCm39) |
M104K |
probably damaging |
Het |
| Sox2 |
T |
A |
3: 34,704,746 (GRCm39) |
M61K |
probably damaging |
Het |
| Spata31e3 |
T |
C |
13: 50,401,588 (GRCm39) |
H246R |
possibly damaging |
Het |
| Spats2 |
T |
A |
15: 99,097,128 (GRCm39) |
D293E |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,050,174 (GRCm39) |
D1738G |
probably damaging |
Het |
| Sqstm1 |
A |
T |
11: 50,098,684 (GRCm39) |
Y89N |
probably damaging |
Het |
| Stat4 |
T |
A |
1: 52,050,957 (GRCm39) |
N5K |
probably benign |
Het |
| Syne4 |
A |
G |
7: 30,017,418 (GRCm39) |
H294R |
probably damaging |
Het |
| Tbc1d7 |
A |
C |
13: 43,322,310 (GRCm39) |
F45V |
probably damaging |
Het |
| Tekt3 |
T |
A |
11: 62,974,684 (GRCm39) |
N334K |
probably damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,300,620 (GRCm39) |
H266R |
possibly damaging |
Het |
| Trav7-6 |
A |
G |
14: 53,954,604 (GRCm39) |
K65E |
probably benign |
Het |
| Trip11 |
A |
G |
12: 101,851,377 (GRCm39) |
S896P |
probably damaging |
Het |
| Tubb6 |
T |
C |
18: 67,526,046 (GRCm39) |
V66A |
possibly damaging |
Het |
| Tyk2 |
A |
G |
9: 21,016,403 (GRCm39) |
L1189P |
probably damaging |
Het |
| Usp34 |
T |
G |
11: 23,320,302 (GRCm39) |
V911G |
|
Het |
| Wdr53 |
C |
T |
16: 32,075,413 (GRCm39) |
A206V |
probably damaging |
Het |
| Xrn1 |
A |
G |
9: 95,920,981 (GRCm39) |
E1364G |
probably benign |
Het |
| Ywhag |
T |
C |
5: 135,940,217 (GRCm39) |
M126V |
probably damaging |
Het |
| Zfp383 |
C |
T |
7: 29,614,717 (GRCm39) |
P324L |
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 |
|
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 |
|
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'- GAAGACCCTGAAGACTCTGGTG -3'
(R):5'- CAGATGAGCTACATGGAGCG -3'
Sequencing Primer
(F):5'- AGTGAGCATTCCTCTGATGAAG -3'
(R):5'- CGAGGCCAGCATCATCTTTATGG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation