Incidental Mutation 'R9573:Lcor'
| ID |
722155 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.560)
|
| Stock # |
R9573 (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 41573471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 742
(L742Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172371]
|
| AlphaFold |
Q6ZPI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172371
AA Change: L742Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128083
Gene: ENSMUSG00000090673
AA Change: L742Q
| 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: 98.9%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
A |
17: 14,050,229 (GRCm39) |
V472E |
probably damaging |
Het |
| Ak3 |
T |
C |
19: 29,003,667 (GRCm39) |
I170V |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,791,977 (GRCm39) |
L1058* |
probably null |
Het |
| Ankrd60 |
A |
G |
2: 173,410,791 (GRCm39) |
V243A |
possibly damaging |
Het |
| Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
| Arid3c |
T |
G |
4: 41,726,003 (GRCm39) |
E200A |
probably benign |
Het |
| Astn2 |
T |
G |
4: 65,566,591 (GRCm39) |
I856L |
probably benign |
Het |
| Bcs1l |
C |
A |
1: 74,629,492 (GRCm39) |
R177S |
probably damaging |
Het |
| Bin2 |
A |
T |
15: 100,560,433 (GRCm39) |
F43I |
probably damaging |
Het |
| Braf |
A |
G |
6: 39,600,544 (GRCm39) |
L691P |
probably damaging |
Het |
| Bud23 |
C |
T |
5: 135,082,274 (GRCm39) |
V266I |
possibly damaging |
Het |
| Casp12 |
A |
T |
9: 5,354,629 (GRCm39) |
I333L |
probably benign |
Het |
| Cavin2 |
T |
A |
1: 51,328,795 (GRCm39) |
I84N |
probably damaging |
Het |
| Ccdc168 |
A |
C |
1: 44,095,307 (GRCm39) |
Y1930* |
probably null |
Het |
| Ccdc196 |
A |
T |
12: 78,244,098 (GRCm39) |
N17I |
|
Het |
| Cep170b |
T |
A |
12: 112,691,154 (GRCm39) |
F24I |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,704,302 (GRCm39) |
Y719C |
unknown |
Het |
| Commd7 |
A |
G |
2: 153,463,981 (GRCm39) |
M137T |
probably damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,657,910 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
C |
14: 26,414,619 (GRCm39) |
T7P |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,373,094 (GRCm39) |
I548N |
probably damaging |
Het |
| Endod1 |
A |
T |
9: 14,292,247 (GRCm39) |
L7Q |
probably damaging |
Het |
| Galnt14 |
C |
T |
17: 73,802,662 (GRCm39) |
V477M |
probably damaging |
Het |
| Glis2 |
C |
T |
16: 4,429,505 (GRCm39) |
R211C |
probably damaging |
Het |
| Gm4744 |
A |
T |
6: 40,925,497 (GRCm39) |
V122D |
|
Het |
| Gm4952 |
G |
A |
19: 12,604,090 (GRCm39) |
M167I |
probably benign |
Het |
| Hyal4 |
T |
C |
6: 24,756,508 (GRCm39) |
V242A |
possibly damaging |
Het |
| Ift122 |
T |
G |
6: 115,857,646 (GRCm39) |
S131A |
probably benign |
Het |
| Il4ra |
T |
A |
7: 125,169,158 (GRCm39) |
S137T |
possibly damaging |
Het |
| Lpin2 |
A |
G |
17: 71,538,185 (GRCm39) |
K315R |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 132,979,774 (GRCm39) |
Y1258H |
probably damaging |
Het |
| Mapk9 |
A |
T |
11: 49,769,239 (GRCm39) |
K290N |
probably damaging |
Het |
| Mfhas1 |
C |
T |
8: 36,143,903 (GRCm39) |
H1045Y |
possibly damaging |
Het |
| Ndufaf7 |
C |
A |
17: 79,246,036 (GRCm39) |
Q90K |
probably damaging |
Het |
| Nlrc3 |
A |
T |
16: 3,771,841 (GRCm39) |
V157E |
probably benign |
Het |
| Npas4 |
A |
G |
19: 5,035,837 (GRCm39) |
F776L |
probably benign |
Het |
| Nuggc |
A |
C |
14: 65,848,603 (GRCm39) |
D184A |
probably benign |
Het |
| Ogdhl |
A |
G |
14: 32,066,678 (GRCm39) |
E795G |
probably damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,509 (GRCm39) |
I189T |
probably damaging |
Het |
| Or9a2 |
T |
G |
6: 41,748,940 (GRCm39) |
I98L |
probably benign |
Het |
| Pcbp1 |
A |
T |
6: 86,502,677 (GRCm39) |
M74K |
possibly damaging |
Het |
| Plk4 |
A |
G |
3: 40,763,257 (GRCm39) |
D476G |
probably benign |
Het |
| Prox2 |
G |
A |
12: 85,141,766 (GRCm39) |
Q146* |
probably null |
Het |
| Rab44 |
A |
T |
17: 29,364,277 (GRCm39) |
Y617F |
unknown |
Het |
| Rabepk |
T |
C |
2: 34,675,627 (GRCm39) |
R168G |
probably benign |
Het |
| Rbmyf9 |
T |
A |
Y: 3,775,370 (GRCm39) |
M40K |
possibly damaging |
Het |
| Rif1 |
T |
G |
2: 52,000,466 (GRCm39) |
S1307A |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,265,467 (GRCm39) |
V542I |
probably benign |
Het |
| Rtp1 |
A |
G |
16: 23,250,159 (GRCm39) |
I175V |
possibly damaging |
Het |
| Slc11a2 |
T |
A |
15: 100,304,225 (GRCm39) |
I158F |
probably damaging |
Het |
| Slc24a3 |
T |
G |
2: 145,455,548 (GRCm39) |
M479R |
probably damaging |
Het |
| Slc4a9 |
T |
C |
18: 36,668,589 (GRCm39) |
F723S |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 75,927,134 (GRCm39) |
N93K |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,057,599 (GRCm39) |
Q846R |
probably damaging |
Het |
| Tas2r116 |
A |
C |
6: 132,833,140 (GRCm39) |
H247P |
probably benign |
Het |
| Tcstv3 |
T |
C |
13: 120,779,130 (GRCm39) |
S10P |
probably damaging |
Het |
| Tgm7 |
T |
C |
2: 120,934,606 (GRCm39) |
N124S |
probably benign |
Het |
| Tmem219 |
A |
T |
7: 126,490,933 (GRCm39) |
Y175N |
probably damaging |
Het |
| Tnfrsf18 |
G |
A |
4: 156,112,484 (GRCm39) |
G114S |
possibly damaging |
Het |
| Trim38 |
G |
A |
13: 23,966,688 (GRCm39) |
C45Y |
probably benign |
Het |
| Tshz1 |
T |
C |
18: 84,032,404 (GRCm39) |
E668G |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,148,450 (GRCm39) |
M382K |
|
Het |
| Vps39 |
T |
C |
2: 120,155,179 (GRCm39) |
E549G |
possibly damaging |
Het |
| Wdr35 |
G |
A |
12: 9,078,014 (GRCm39) |
G1135D |
probably benign |
Het |
| Zbtb46 |
A |
G |
2: 181,053,548 (GRCm39) |
L388P |
probably benign |
Het |
| Zdhhc25 |
T |
A |
15: 88,485,307 (GRCm39) |
M214K |
probably damaging |
Het |
| Zfp735 |
G |
A |
11: 73,602,936 (GRCm39) |
E627K |
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 |
|
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 |
|
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'- TTCCTTGCAAGAGGGATCCAG -3'
(R):5'- CCTATGAACTTGGGCTGCTC -3'
Sequencing Primer
(F):5'- GGACACCTTGCCATACAGG -3'
(R):5'- AACTTGGGCTGCTCCTCCAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation