Incidental Mutation 'R6112:Lcor'
| ID |
484930 |
| 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 |
044261-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.468)
|
| Stock # |
R6112 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
41471076-41574975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41547520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 368
(V368A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067795]
[ENSMUST00000163929]
|
| AlphaFold |
Q6ZPI3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067795
AA Change: V368A
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000067603
Gene: ENSMUSG00000025019
AA Change: V368A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
48 |
N/A |
INTRINSIC |
|
Pfam:HTH_psq
|
350 |
395 |
1.2e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163929
AA Change: V368A
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126441
Gene: ENSMUSG00000025019
AA Change: V368A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
48 |
N/A |
INTRINSIC |
|
Pfam:HTH_psq
|
350 |
395 |
5.1e-18 |
PFAM |
|
| Meta Mutation Damage Score |
0.6439 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (54/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,278,780 (GRCm39) |
Y1030C |
probably damaging |
Het |
| Adh5 |
G |
T |
3: 138,157,029 (GRCm39) |
V197F |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,798,684 (GRCm39) |
F936I |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,885,625 (GRCm39) |
D710V |
probably damaging |
Het |
| Aplp1 |
T |
C |
7: 30,134,902 (GRCm39) |
E622G |
probably damaging |
Het |
| Arhgap20 |
T |
C |
9: 51,740,684 (GRCm39) |
Y219H |
probably damaging |
Het |
| Bag3 |
A |
G |
7: 128,143,556 (GRCm39) |
D184G |
probably damaging |
Het |
| Cacna1g |
C |
T |
11: 94,300,072 (GRCm39) |
A2216T |
probably damaging |
Het |
| Cbarp |
T |
C |
10: 79,971,205 (GRCm39) |
|
probably null |
Het |
| Cep250 |
C |
A |
2: 155,836,503 (GRCm39) |
L2211I |
possibly damaging |
Het |
| Cfap65 |
A |
G |
1: 74,942,298 (GRCm39) |
I1752T |
probably benign |
Het |
| Col4a4 |
A |
G |
1: 82,431,604 (GRCm39) |
V1560A |
unknown |
Het |
| Dapk3 |
A |
T |
10: 81,019,864 (GRCm39) |
Q6L |
probably benign |
Het |
| Dctn5 |
A |
G |
7: 121,732,460 (GRCm39) |
|
probably benign |
Het |
| Eef1akmt1 |
A |
T |
14: 57,787,330 (GRCm39) |
I182N |
possibly damaging |
Het |
| Eef1g |
T |
C |
19: 8,954,955 (GRCm39) |
F346S |
probably damaging |
Het |
| Erap1 |
G |
T |
13: 74,794,398 (GRCm39) |
W19L |
probably benign |
Het |
| Gm10801 |
A |
G |
2: 98,494,409 (GRCm39) |
H162R |
probably benign |
Het |
| Gpm6a |
G |
A |
8: 55,507,845 (GRCm39) |
A194T |
probably benign |
Het |
| Grip1 |
C |
A |
10: 119,829,137 (GRCm39) |
N32K |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,494,687 (GRCm39) |
I4134T |
probably damaging |
Het |
| Hspa14 |
G |
A |
2: 3,499,105 (GRCm39) |
H230Y |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,414,241 (GRCm39) |
T1435A |
probably benign |
Het |
| Igsf3 |
T |
A |
3: 101,358,322 (GRCm39) |
Y738N |
probably damaging |
Het |
| Lmna |
C |
A |
3: 88,393,928 (GRCm39) |
E217* |
probably null |
Het |
| Lrp1b |
C |
T |
2: 41,231,894 (GRCm39) |
G337E |
probably benign |
Het |
| Maf1 |
A |
G |
15: 76,236,312 (GRCm39) |
|
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,722,571 (GRCm39) |
I436V |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,596,157 (GRCm39) |
T3123I |
possibly damaging |
Het |
| Muc5b |
T |
A |
7: 141,417,042 (GRCm39) |
H3329Q |
probably benign |
Het |
| Noa1 |
C |
T |
5: 77,457,593 (GRCm39) |
R104Q |
probably benign |
Het |
| Odc1 |
T |
G |
12: 17,599,473 (GRCm39) |
S267A |
probably benign |
Het |
| Or5p60 |
T |
A |
7: 107,724,369 (GRCm39) |
I34F |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,193 (GRCm39) |
Y691H |
probably damaging |
Het |
| Pamr1 |
T |
C |
2: 102,441,953 (GRCm39) |
Y181H |
probably damaging |
Het |
| Pcdhga2 |
T |
A |
18: 37,802,612 (GRCm39) |
I152N |
probably damaging |
Het |
| Pigt |
C |
T |
2: 164,348,365 (GRCm39) |
Q437* |
probably null |
Het |
| Prx |
T |
C |
7: 27,215,973 (GRCm39) |
L158P |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,600,922 (GRCm39) |
T152S |
probably benign |
Het |
| Pum1 |
G |
A |
4: 130,457,591 (GRCm39) |
R201H |
probably damaging |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,290 (GRCm39) |
I404T |
probably benign |
Het |
| Radil |
C |
T |
5: 142,529,399 (GRCm39) |
R99H |
probably damaging |
Het |
| Rc3h2 |
C |
T |
2: 37,268,899 (GRCm39) |
V856I |
possibly damaging |
Het |
| Slx4ip |
T |
A |
2: 136,888,664 (GRCm39) |
V115E |
probably damaging |
Het |
| Snx3 |
C |
A |
10: 42,402,042 (GRCm39) |
S85R |
probably benign |
Het |
| Sppl2c |
A |
T |
11: 104,077,963 (GRCm39) |
E254D |
probably benign |
Het |
| Srms |
C |
A |
2: 180,849,780 (GRCm39) |
E237* |
probably null |
Het |
| Tenm1 |
C |
T |
X: 41,916,072 (GRCm39) |
G404E |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,805 (GRCm39) |
L2514P |
probably damaging |
Het |
| Trib1 |
C |
T |
15: 59,523,487 (GRCm39) |
R174* |
probably null |
Het |
| Usp4 |
A |
G |
9: 108,233,703 (GRCm39) |
Y108C |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,847 (GRCm39) |
I737F |
probably damaging |
Het |
| Zfp600 |
A |
T |
4: 146,131,701 (GRCm39) |
H123L |
probably benign |
Het |
| Zfp646 |
G |
T |
7: 127,478,190 (GRCm39) |
R122S |
possibly damaging |
Het |
| Znfx1 |
A |
G |
2: 166,880,126 (GRCm39) |
Y553H |
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 |
|
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'- ACCTGATTCTTGGGGCTCAG -3'
(R):5'- CCAGTTTGTACAGTAATTGGCAC -3'
Sequencing Primer
(F):5'- AGATGCTGAGCAGTCTACCTCTG -3'
(R):5'- GTTTGTACAGTAATTGGCACTCTAC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation