Incidental Mutation 'R5262:Rcor2'
| ID |
401533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rcor2
|
| Ensembl Gene |
ENSMUSG00000024968 |
| Gene Name |
REST corepressor 2 |
| Synonyms |
1A13, CoREST |
| MMRRC Submission |
042857-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.884)
|
| Stock # |
R5262 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
7244759-7252590 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 7251426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 313
(V313L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025921]
[ENSMUST00000032557]
[ENSMUST00000051711]
[ENSMUST00000066646]
[ENSMUST00000113369]
[ENSMUST00000140442]
[ENSMUST00000164205]
[ENSMUST00000165286]
[ENSMUST00000167767]
[ENSMUST00000165965]
[ENSMUST00000166461]
[ENSMUST00000171352]
[ENSMUST00000168872]
|
| AlphaFold |
Q8C796 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025921
|
| SMART Domains |
Protein: ENSMUSP00000025921
Gene: ENSMUSG00000024969
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
1.59e-108 |
SMART |
|
UBA
|
292 |
329 |
7.69e-7 |
SMART |
|
low complexity region
|
475 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
545 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
697 |
743 |
2.5e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032557
|
| SMART Domains |
Protein: ENSMUSP00000032557
Gene: ENSMUSG00000024969
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
53 |
304 |
1.59e-108 |
SMART |
|
UBA
|
325 |
362 |
7.69e-7 |
SMART |
|
low complexity region
|
511 |
524 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
685 |
731 |
5.4e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051711
|
| SMART Domains |
Protein: ENSMUSP00000108969
Gene: ENSMUSG00000024969
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
53 |
304 |
1.59e-108 |
SMART |
|
UBA
|
325 |
362 |
7.69e-7 |
SMART |
|
low complexity region
|
508 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
578 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
730 |
776 |
6.6e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066646
AA Change: V357L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000063335
Gene: ENSMUSG00000024968
AA Change: V357L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
|
ELM2
|
46 |
100 |
4.36e-17 |
SMART |
|
SANT
|
131 |
179 |
1.32e-4 |
SMART |
|
low complexity region
|
249 |
260 |
N/A |
INTRINSIC |
|
SANT
|
328 |
376 |
5.24e-8 |
SMART |
|
low complexity region
|
423 |
496 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113369
AA Change: V313L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108996
Gene: ENSMUSG00000024968
AA Change: V313L
| Domain | Start | End | E-Value | Type |
|---|
|
ELM2
|
2 |
56 |
4.36e-17 |
SMART |
|
SANT
|
87 |
135 |
1.32e-4 |
SMART |
|
low complexity region
|
205 |
216 |
N/A |
INTRINSIC |
|
SANT
|
284 |
332 |
5.24e-8 |
SMART |
|
low complexity region
|
379 |
452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134167
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140442
|
| SMART Domains |
Protein: ENSMUSP00000114858
Gene: ENSMUSG00000024968
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
|
Pfam:ELM2
|
46 |
76 |
5e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171044
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164205
|
| SMART Domains |
Protein: ENSMUSP00000127827
Gene: ENSMUSG00000024969
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
53 |
304 |
1.59e-108 |
SMART |
|
UBA
|
325 |
362 |
7.69e-7 |
SMART |
|
low complexity region
|
511 |
524 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
676 |
722 |
5.4e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165286
|
| SMART Domains |
Protein: ENSMUSP00000126468
Gene: ENSMUSG00000024969
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
53 |
304 |
1.59e-108 |
SMART |
|
UBA
|
325 |
362 |
7.69e-7 |
SMART |
|
low complexity region
|
511 |
524 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
670 |
716 |
6e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167767
|
| SMART Domains |
Protein: ENSMUSP00000132482
Gene: ENSMUSG00000024969
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
66 |
N/A |
INTRINSIC |
|
PDB:3OSE|A
|
220 |
264 |
1e-18 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165965
|
| SMART Domains |
Protein: ENSMUSP00000131684
Gene: ENSMUSG00000024969
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
53 |
304 |
1.59e-108 |
SMART |
|
UBA
|
325 |
362 |
7.69e-7 |
SMART |
|
low complexity region
|
508 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
578 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
732 |
776 |
7.2e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171721
|
| SMART Domains |
Protein: ENSMUSP00000129506
Gene: ENSMUSG00000024969
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
44 |
295 |
1.59e-108 |
SMART |
|
UBA
|
316 |
353 |
7.69e-7 |
SMART |
|
low complexity region
|
499 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
556 |
569 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
732 |
776 |
7.2e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166461
|
| SMART Domains |
Protein: ENSMUSP00000128549
Gene: ENSMUSG00000024969
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
261 |
307 |
1.9e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171352
|
| SMART Domains |
Protein: ENSMUSP00000129490
Gene: ENSMUSG00000024969
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
127 |
140 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165881
|
| SMART Domains |
Protein: ENSMUSP00000126753
Gene: ENSMUSG00000024969
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
158 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168872
|
| SMART Domains |
Protein: ENSMUSP00000128560
Gene: ENSMUSG00000024969
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
53 |
304 |
1.59e-108 |
SMART |
|
UBA
|
325 |
362 |
7.69e-7 |
SMART |
|
low complexity region
|
511 |
524 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
661 |
707 |
5.9e-22 |
PFAM |
|
| Meta Mutation Damage Score |
0.2929 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
98% (61/62) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for neuronal specific conditional loss of expression display impaired neurogenesis and neuronal precursor cell proliferation resulting in a thin cerebral cortex. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago4 |
T |
A |
4: 126,390,557 (GRCm39) |
D821V |
possibly damaging |
Het |
| Ankdd1b |
C |
A |
13: 96,557,281 (GRCm39) |
R384L |
probably damaging |
Het |
| Ces1e |
A |
G |
8: 93,950,586 (GRCm39) |
F65S |
probably damaging |
Het |
| Cfap53 |
A |
C |
18: 74,462,530 (GRCm39) |
S425R |
probably benign |
Het |
| Corin |
A |
G |
5: 72,462,298 (GRCm39) |
V837A |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,502,572 (GRCm39) |
V188E |
probably damaging |
Het |
| Defb26 |
A |
T |
2: 152,349,878 (GRCm39) |
M134K |
unknown |
Het |
| Dnah10 |
A |
C |
5: 124,862,220 (GRCm39) |
K2158N |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 66,003,159 (GRCm39) |
V882M |
probably benign |
Het |
| Dpyd |
C |
A |
3: 118,591,071 (GRCm39) |
Y186* |
probably null |
Het |
| Elovl1 |
G |
A |
4: 118,288,124 (GRCm39) |
|
probably benign |
Het |
| Fars2 |
T |
A |
13: 36,526,001 (GRCm39) |
I329N |
probably damaging |
Het |
| Gstm1 |
T |
A |
3: 107,923,679 (GRCm39) |
M109L |
probably benign |
Het |
| Gtf2e1 |
T |
C |
16: 37,356,293 (GRCm39) |
T80A |
probably damaging |
Het |
| Gtf2h2 |
A |
G |
13: 100,618,356 (GRCm39) |
|
probably benign |
Het |
| Hrh4 |
G |
T |
18: 13,148,870 (GRCm39) |
L77F |
probably damaging |
Het |
| Ifi47 |
A |
G |
11: 48,986,559 (GRCm39) |
T109A |
probably benign |
Het |
| Igsf5 |
G |
T |
16: 96,192,237 (GRCm39) |
E179* |
probably null |
Het |
| Ints8 |
A |
G |
4: 11,211,916 (GRCm39) |
I885T |
probably damaging |
Het |
| Iqgap1 |
T |
G |
7: 80,376,490 (GRCm39) |
I1341L |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,269,219 (GRCm39) |
L2567P |
probably damaging |
Het |
| Lilrb4a |
T |
C |
10: 51,369,303 (GRCm39) |
|
probably null |
Het |
| Maip1 |
G |
A |
1: 57,446,131 (GRCm39) |
R67H |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,237,375 (GRCm39) |
I254F |
possibly damaging |
Het |
| Nfkb1 |
A |
T |
3: 135,318,173 (GRCm39) |
|
probably null |
Het |
| Nlrp4a |
T |
C |
7: 26,159,236 (GRCm39) |
|
probably null |
Het |
| Nrap |
A |
T |
19: 56,308,655 (GRCm39) |
I1477N |
possibly damaging |
Het |
| Pdgfa |
A |
G |
5: 138,979,049 (GRCm39) |
S52P |
probably benign |
Het |
| Pou1f1 |
G |
T |
16: 65,328,868 (GRCm39) |
E196* |
probably null |
Het |
| Ppp2r5e |
G |
A |
12: 75,640,045 (GRCm39) |
R19W |
probably damaging |
Het |
| Ptn |
T |
A |
6: 36,721,419 (GRCm39) |
Q7L |
probably benign |
Het |
| Rbp3 |
G |
T |
14: 33,676,807 (GRCm39) |
A252S |
probably damaging |
Het |
| Rtp3 |
A |
T |
9: 110,815,195 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,787,323 (GRCm39) |
T1017A |
probably damaging |
Het |
| Scgb2b11 |
T |
C |
7: 31,908,776 (GRCm39) |
N108S |
probably benign |
Het |
| Sgo2b |
C |
A |
8: 64,396,171 (GRCm39) |
L28F |
probably damaging |
Het |
| Shroom3 |
A |
G |
5: 93,112,432 (GRCm39) |
E1850G |
probably damaging |
Het |
| Slc16a14 |
A |
G |
1: 84,890,612 (GRCm39) |
L231P |
probably benign |
Het |
| Slfn5 |
A |
G |
11: 82,847,496 (GRCm39) |
E127G |
possibly damaging |
Het |
| Snx16 |
C |
T |
3: 10,502,892 (GRCm39) |
M118I |
probably damaging |
Het |
| Snx21 |
T |
C |
2: 164,633,741 (GRCm39) |
F176L |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,432,990 (GRCm39) |
N424S |
probably benign |
Het |
| Tcf7l1 |
T |
C |
6: 72,613,449 (GRCm39) |
|
probably benign |
Het |
| Trappc8 |
C |
T |
18: 20,951,247 (GRCm39) |
V1400I |
probably benign |
Het |
| Trim58 |
T |
C |
11: 58,542,494 (GRCm39) |
Y485H |
possibly damaging |
Het |
| U2af1l4 |
C |
T |
7: 30,263,638 (GRCm39) |
T65I |
probably benign |
Het |
| Ufl1 |
G |
T |
4: 25,251,294 (GRCm39) |
|
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,593,031 (GRCm39) |
N762S |
probably damaging |
Het |
| Virma |
A |
T |
4: 11,539,926 (GRCm39) |
D1465V |
probably benign |
Het |
| Vmn1r48 |
A |
T |
6: 90,013,016 (GRCm39) |
S270T |
probably benign |
Het |
| Vrk2 |
T |
A |
11: 26,541,697 (GRCm39) |
Y9F |
possibly damaging |
Het |
| Wwp1 |
A |
G |
4: 19,631,057 (GRCm39) |
F659L |
probably damaging |
Het |
| Zbtb24 |
C |
T |
10: 41,340,556 (GRCm39) |
Q529* |
probably null |
Het |
| Zranb1 |
CTGATGATGATG |
CTGATGATGATGATG |
7: 132,584,556 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rcor2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03007:Rcor2
|
APN |
19 |
7,251,718 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1426:Rcor2
|
UTSW |
19 |
7,248,395 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1660:Rcor2
|
UTSW |
19 |
7,246,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1675:Rcor2
|
UTSW |
19 |
7,247,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5044:Rcor2
|
UTSW |
19 |
7,247,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5630:Rcor2
|
UTSW |
19 |
7,248,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6480:Rcor2
|
UTSW |
19 |
7,248,411 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7452:Rcor2
|
UTSW |
19 |
7,248,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7618:Rcor2
|
UTSW |
19 |
7,248,411 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7947:Rcor2
|
UTSW |
19 |
7,251,225 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8790:Rcor2
|
UTSW |
19 |
7,246,340 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9478:Rcor2
|
UTSW |
19 |
7,248,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9621:Rcor2
|
UTSW |
19 |
7,251,591 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACTTCTAGCTGTTCAAGGTG -3'
(R):5'- TGGAGACTCATCCCTGCTTC -3'
Sequencing Primer
(F):5'- TCAAGGTGGGTCAGGCCATG -3'
(R):5'- CATCATCTTCTTCTAGGGCTGTGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation