Incidental Mutation 'R7372:Lcor'
| ID |
572193 |
| 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 |
045455-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.560)
|
| Stock # |
R7372 (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 41573945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 900
(L900P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172371]
|
| AlphaFold |
Q6ZPI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172371
AA Change: L900P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128083
Gene: ENSMUSG00000090673
AA Change: L900P
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
99% (68/69) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
G |
A |
1: 156,450,189 (GRCm39) |
V119M |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,399,100 (GRCm39) |
V454A |
probably damaging |
Het |
| Adam6b |
T |
A |
12: 113,453,784 (GRCm39) |
D200E |
probably benign |
Het |
| Adarb1 |
T |
A |
10: 77,131,712 (GRCm39) |
|
probably null |
Het |
| Aqp12 |
C |
T |
1: 92,934,088 (GRCm39) |
|
probably benign |
Het |
| Atrnl1 |
T |
C |
19: 57,924,078 (GRCm39) |
V1281A |
possibly damaging |
Het |
| Brdt |
A |
G |
5: 107,518,160 (GRCm39) |
E761G |
possibly damaging |
Het |
| Bsn |
A |
T |
9: 107,987,718 (GRCm39) |
I2678N |
unknown |
Het |
| C2cd2 |
A |
T |
16: 97,676,580 (GRCm39) |
C136S |
|
Het |
| Camk4 |
A |
G |
18: 33,318,178 (GRCm39) |
D445G |
probably benign |
Het |
| Cckar |
T |
C |
5: 53,864,624 (GRCm39) |
T26A |
probably damaging |
Het |
| Cd209a |
T |
A |
8: 3,798,857 (GRCm39) |
|
probably null |
Het |
| Cept1 |
A |
G |
3: 106,411,056 (GRCm39) |
F379S |
probably benign |
Het |
| Crhr1 |
A |
G |
11: 104,054,719 (GRCm39) |
|
probably null |
Het |
| Cryzl1 |
T |
C |
16: 91,509,085 (GRCm39) |
E72G |
probably benign |
Het |
| Ctnnal1 |
T |
A |
4: 56,826,285 (GRCm39) |
E526V |
possibly damaging |
Het |
| Cyp3a41a |
T |
C |
5: 145,650,374 (GRCm39) |
I90V |
possibly damaging |
Het |
| Dek |
T |
C |
13: 47,259,053 (GRCm39) |
E51G |
unknown |
Het |
| Dnaaf6rt |
A |
T |
1: 31,262,432 (GRCm39) |
D138V |
probably damaging |
Het |
| Evc2 |
T |
A |
5: 37,544,477 (GRCm39) |
V742E |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,944,358 (GRCm39) |
V1084M |
probably damaging |
Het |
| Fscb |
G |
A |
12: 64,518,598 (GRCm39) |
T956I |
unknown |
Het |
| Glipr2 |
T |
C |
4: 43,968,184 (GRCm39) |
L29P |
probably damaging |
Het |
| Gm19402 |
A |
T |
10: 77,526,261 (GRCm39) |
S111T |
unknown |
Het |
| Gm4553 |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
7: 141,719,157 (GRCm39) |
|
probably benign |
Het |
| Gnl3 |
T |
C |
14: 30,738,843 (GRCm39) |
K115E |
probably benign |
Het |
| Gpn1 |
T |
A |
5: 31,658,465 (GRCm39) |
F147I |
probably damaging |
Het |
| Gsdmd |
T |
A |
15: 75,737,618 (GRCm39) |
L232H |
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,880,216 (GRCm39) |
V500A |
possibly damaging |
Het |
| Hemk1 |
T |
C |
9: 107,214,267 (GRCm39) |
E55G |
probably benign |
Het |
| Hs2st1 |
A |
T |
3: 144,141,221 (GRCm39) |
|
probably null |
Het |
| Ighv1-63 |
A |
G |
12: 115,459,486 (GRCm39) |
V37A |
probably damaging |
Het |
| Iqsec3 |
C |
A |
6: 121,360,991 (GRCm39) |
E956* |
probably null |
Het |
| Kcnh8 |
T |
A |
17: 53,201,129 (GRCm39) |
I521K |
probably damaging |
Het |
| Kif3c |
T |
A |
12: 3,437,592 (GRCm39) |
M531K |
probably benign |
Het |
| Kif5c |
T |
A |
2: 49,648,671 (GRCm39) |
|
probably null |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Lrrc32 |
A |
G |
7: 98,149,014 (GRCm39) |
D598G |
probably benign |
Het |
| Mug2 |
T |
C |
6: 122,060,425 (GRCm39) |
V1387A |
possibly damaging |
Het |
| Nin |
T |
A |
12: 70,102,803 (GRCm39) |
E275V |
|
Het |
| Or5p68 |
A |
G |
7: 107,945,703 (GRCm39) |
F162L |
probably benign |
Het |
| Papolg |
A |
G |
11: 23,816,439 (GRCm39) |
I698T |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,639,840 (GRCm39) |
N789D |
probably benign |
Het |
| Pik3cg |
C |
T |
12: 32,247,196 (GRCm39) |
M842I |
probably damaging |
Het |
| Pnn |
T |
A |
12: 59,115,765 (GRCm39) |
D135E |
probably damaging |
Het |
| Pold1 |
C |
A |
7: 44,192,847 (GRCm39) |
R5L |
possibly damaging |
Het |
| Prl8a1 |
A |
T |
13: 27,758,089 (GRCm39) |
F207I |
probably damaging |
Het |
| Prr11 |
A |
G |
11: 86,989,600 (GRCm39) |
V257A |
probably benign |
Het |
| Prtg |
C |
T |
9: 72,758,848 (GRCm39) |
R401* |
probably null |
Het |
| Rasgrp1 |
A |
G |
2: 117,115,635 (GRCm39) |
M651T |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,695,885 (GRCm39) |
H2994L |
probably damaging |
Het |
| Snx13 |
A |
T |
12: 35,128,950 (GRCm39) |
I23L |
probably benign |
Het |
| Snx7 |
A |
G |
3: 117,576,000 (GRCm39) |
L429P |
probably damaging |
Het |
| Spta1 |
C |
T |
1: 174,025,201 (GRCm39) |
Q689* |
probably null |
Het |
| Spty2d1 |
T |
C |
7: 46,648,692 (GRCm39) |
D79G |
probably damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,059,515 (GRCm39) |
|
probably null |
Het |
| Tnxb |
T |
C |
17: 34,936,228 (GRCm39) |
F2722L |
possibly damaging |
Het |
| Tppp2 |
C |
T |
14: 52,156,865 (GRCm39) |
R81C |
probably benign |
Het |
| Trim6 |
G |
T |
7: 103,881,843 (GRCm39) |
A391S |
probably benign |
Het |
| Trim69 |
A |
C |
2: 122,009,064 (GRCm39) |
T375P |
possibly damaging |
Het |
| Trim72 |
A |
G |
7: 127,603,858 (GRCm39) |
N68S |
possibly damaging |
Het |
| Trrap |
G |
A |
5: 144,726,208 (GRCm39) |
V386I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,778,275 (GRCm39) |
I1371V |
unknown |
Het |
| Usp17lb |
A |
T |
7: 104,490,913 (GRCm39) |
|
probably null |
Het |
| Vmn2r20 |
A |
T |
6: 123,362,468 (GRCm39) |
L772Q |
probably damaging |
Het |
| Ypel3 |
A |
G |
7: 126,379,200 (GRCm39) |
E91G |
probably benign |
Het |
| Zbtb21 |
C |
T |
16: 97,751,569 (GRCm39) |
E905K |
possibly damaging |
Het |
| Zfp189 |
T |
A |
4: 49,530,417 (GRCm39) |
C507S |
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 |
|
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'- GGAGCAAGTCTGACAAGCTG -3'
(R):5'- AAAGCTGATGTCACTGCCATC -3'
Sequencing Primer
(F):5'- TCTGACAAGCTGAAGGAGATTTG -3'
(R):5'- CTATCAGGTCAGGATTCTCTCGTAG -3'
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| Posted On |
2019-09-13 |
Incidental Mutation