Incidental Mutation 'R2697:Lcor'
| ID |
251259 |
| 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 |
040435-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.468)
|
| Stock # |
R2697 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
41471076-41574975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41572466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 407
(V407E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172371]
|
| AlphaFold |
Q6ZPI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172371
AA Change: V407E
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128083
Gene: ENSMUSG00000090673
AA Change: V407E
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183602
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
T |
C |
6: 132,603,619 (GRCm39) |
S46G |
unknown |
Het |
| Acaca |
T |
A |
11: 84,255,239 (GRCm39) |
D1932E |
probably damaging |
Het |
| Adam7 |
A |
T |
14: 68,752,232 (GRCm39) |
C417* |
probably null |
Het |
| Adgrl4 |
A |
C |
3: 151,216,260 (GRCm39) |
Q481P |
probably damaging |
Het |
| Adra2c |
C |
A |
5: 35,438,042 (GRCm39) |
N271K |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,580,097 (GRCm39) |
K2035R |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,625,305 (GRCm39) |
T182A |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,308,746 (GRCm39) |
Y805H |
probably damaging |
Het |
| BC024139 |
TCCACCACCACCACCACCAC |
TCCACCACCACCACCAC |
15: 76,004,393 (GRCm39) |
|
probably benign |
Het |
| Cabp7 |
C |
T |
11: 4,688,837 (GRCm39) |
R211H |
probably damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,484,888 (GRCm39) |
N112S |
possibly damaging |
Het |
| Cep120 |
C |
T |
18: 53,873,197 (GRCm39) |
D45N |
probably benign |
Het |
| Cpsf1 |
T |
C |
15: 76,483,529 (GRCm39) |
Y872C |
probably damaging |
Het |
| Cradd |
A |
G |
10: 95,011,807 (GRCm39) |
L111P |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,079,815 (GRCm39) |
L155P |
probably damaging |
Het |
| Fgd2 |
A |
T |
17: 29,595,895 (GRCm39) |
T518S |
probably damaging |
Het |
| Gpam |
C |
T |
19: 55,071,641 (GRCm39) |
E367K |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,243,126 (GRCm39) |
N1826I |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,549,656 (GRCm39) |
E357G |
probably damaging |
Het |
| Krt1 |
T |
A |
15: 101,755,364 (GRCm39) |
D465V |
probably damaging |
Het |
| Macrod1 |
T |
C |
19: 7,174,157 (GRCm39) |
V221A |
probably damaging |
Het |
| Mbd1 |
T |
C |
18: 74,406,688 (GRCm39) |
S144P |
possibly damaging |
Het |
| Mtfmt |
T |
C |
9: 65,359,303 (GRCm39) |
V326A |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,902,517 (GRCm39) |
D71G |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,493,274 (GRCm39) |
Y705C |
probably damaging |
Het |
| Nudt9 |
T |
C |
5: 104,212,859 (GRCm39) |
W311R |
probably damaging |
Het |
| Or11g27 |
C |
T |
14: 50,771,238 (GRCm39) |
A123V |
probably damaging |
Het |
| Or2a57 |
A |
T |
6: 43,213,060 (GRCm39) |
I173F |
probably damaging |
Het |
| Or2h15 |
A |
G |
17: 38,441,900 (GRCm39) |
F61S |
probably damaging |
Het |
| Or6c65 |
G |
A |
10: 129,603,793 (GRCm39) |
V143I |
probably benign |
Het |
| Osbp2 |
A |
T |
11: 3,813,407 (GRCm39) |
L154Q |
probably benign |
Het |
| P3h1 |
A |
G |
4: 119,104,377 (GRCm39) |
T633A |
probably damaging |
Het |
| Polq |
T |
G |
16: 36,862,515 (GRCm39) |
L616R |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,232,429 (GRCm39) |
L197S |
possibly damaging |
Het |
| Rap1gds1 |
C |
T |
3: 138,689,482 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rfng |
C |
A |
11: 120,674,865 (GRCm39) |
|
probably benign |
Het |
| Rps6ka2 |
T |
G |
17: 7,567,721 (GRCm39) |
L728R |
probably benign |
Het |
| Slc41a3 |
C |
A |
6: 90,619,302 (GRCm39) |
N360K |
possibly damaging |
Het |
| Sult1e1 |
T |
C |
5: 87,726,397 (GRCm39) |
N239S |
probably damaging |
Het |
| Tacr1 |
T |
A |
6: 82,469,578 (GRCm39) |
I154N |
probably damaging |
Het |
| Tacstd2 |
T |
A |
6: 67,512,203 (GRCm39) |
H163L |
probably benign |
Het |
| Tent5a |
T |
C |
9: 85,206,793 (GRCm39) |
D335G |
possibly damaging |
Het |
| Tiam1 |
T |
C |
16: 89,590,052 (GRCm39) |
S1382G |
probably benign |
Het |
| Tmem43 |
A |
G |
6: 91,456,911 (GRCm39) |
E164G |
possibly damaging |
Het |
| U2af2 |
G |
A |
7: 5,070,545 (GRCm39) |
R78H |
probably benign |
Het |
| Yipf7 |
T |
A |
5: 69,698,483 (GRCm39) |
D8V |
possibly damaging |
Het |
| Zfp58 |
G |
A |
13: 67,639,124 (GRCm39) |
H456Y |
probably damaging |
Het |
| Zfp799 |
G |
A |
17: 33,039,214 (GRCm39) |
R351* |
probably null |
Het |
| Zfyve9 |
T |
C |
4: 108,553,016 (GRCm39) |
D715G |
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 |
|
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 |
|
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'- TTTCCAGGAGCAAGACCAGC -3'
(R):5'- CAGGTGTCCTGTTCCACTTGTG -3'
Sequencing Primer
(F):5'- AGCCTCTCAGCTAGGTCCAGAG -3'
(R):5'- GTTCCACTTGTGGCCTCAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation