Incidental Mutation 'IGL03007:Rcor2'
ID |
407588 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rcor2
|
Ensembl Gene |
ENSMUSG00000024968 |
Gene Name |
REST corepressor 2 |
Synonyms |
1A13, CoREST |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.884)
|
Stock # |
IGL03007
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
7244759-7252590 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 7251718 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 379
(T379K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108996
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025921]
[ENSMUST00000032557]
[ENSMUST00000051711]
[ENSMUST00000066646]
[ENSMUST00000113369]
[ENSMUST00000140442]
[ENSMUST00000166461]
[ENSMUST00000171352]
[ENSMUST00000167767]
[ENSMUST00000168872]
[ENSMUST00000165286]
[ENSMUST00000164205]
[ENSMUST00000165965]
|
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 benign
Transcript: ENSMUST00000066646
AA Change: T423K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000063335 Gene: ENSMUSG00000024968 AA Change: T423K
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 benign
Transcript: ENSMUST00000113369
AA Change: T379K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000108996 Gene: ENSMUSG00000024968 AA Change: T379K
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: 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: 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: 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: ENSMUST00000163345
|
SMART Domains |
Protein: ENSMUSP00000125944 Gene: ENSMUSG00000024969
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
low complexity region
|
58 |
71 |
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 |
|
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: 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: 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: 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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
A |
G |
10: 29,098,034 (GRCm39) |
N144D |
possibly damaging |
Het |
A830031A19Rik |
T |
C |
11: 23,999,248 (GRCm39) |
|
probably benign |
Het |
Ankfy1 |
T |
C |
11: 72,641,347 (GRCm39) |
F640S |
probably damaging |
Het |
Asb8 |
A |
G |
15: 98,040,615 (GRCm39) |
Y16H |
probably damaging |
Het |
Astn1 |
T |
C |
1: 158,496,193 (GRCm39) |
|
probably benign |
Het |
Btbd8 |
T |
A |
5: 107,651,542 (GRCm39) |
V145E |
probably benign |
Het |
Celf3 |
A |
G |
3: 94,394,444 (GRCm39) |
T183A |
probably benign |
Het |
Dctn1 |
T |
C |
6: 83,159,690 (GRCm39) |
V56A |
probably damaging |
Het |
Erbb2 |
A |
C |
11: 98,319,819 (GRCm39) |
|
probably benign |
Het |
Ighv6-4 |
A |
T |
12: 114,370,213 (GRCm39) |
Y80N |
possibly damaging |
Het |
Igsf9b |
T |
C |
9: 27,244,378 (GRCm39) |
S782P |
probably damaging |
Het |
Itsn1 |
A |
T |
16: 91,581,050 (GRCm39) |
|
probably benign |
Het |
Kcnt2 |
T |
A |
1: 140,282,245 (GRCm39) |
Y77N |
possibly damaging |
Het |
Lig3 |
T |
C |
11: 82,680,401 (GRCm39) |
F359S |
probably damaging |
Het |
Mtmr6 |
G |
T |
14: 60,526,984 (GRCm39) |
|
probably benign |
Het |
Muc4 |
C |
T |
16: 32,570,866 (GRCm39) |
S642F |
possibly damaging |
Het |
Ncoa1 |
T |
A |
12: 4,389,114 (GRCm39) |
I54F |
possibly damaging |
Het |
Nfx1 |
C |
A |
4: 40,984,962 (GRCm39) |
T362K |
probably benign |
Het |
Ntrk1 |
T |
C |
3: 87,690,050 (GRCm39) |
S449G |
possibly damaging |
Het |
Odc1 |
T |
A |
12: 17,598,811 (GRCm39) |
H230Q |
probably benign |
Het |
Or10d4 |
T |
C |
9: 39,580,767 (GRCm39) |
V138A |
possibly damaging |
Het |
Or10h28 |
A |
G |
17: 33,487,857 (GRCm39) |
E53G |
probably damaging |
Het |
Or1j19 |
T |
C |
2: 36,676,812 (GRCm39) |
S92P |
probably damaging |
Het |
Or8d1 |
C |
T |
9: 38,766,592 (GRCm39) |
T78I |
probably damaging |
Het |
Plekhh2 |
A |
C |
17: 84,882,388 (GRCm39) |
S665R |
possibly damaging |
Het |
Qpct |
T |
A |
17: 79,378,294 (GRCm39) |
F155I |
probably damaging |
Het |
Rint1 |
A |
G |
5: 24,020,699 (GRCm39) |
N574S |
probably benign |
Het |
Rsbn1 |
C |
T |
3: 103,836,195 (GRCm39) |
A411V |
probably damaging |
Het |
Sbno2 |
A |
T |
10: 79,894,384 (GRCm39) |
|
probably benign |
Het |
Sptb |
A |
G |
12: 76,668,115 (GRCm39) |
S661P |
probably damaging |
Het |
Syn3 |
A |
T |
10: 85,900,778 (GRCm39) |
M370K |
possibly damaging |
Het |
Tex101 |
G |
A |
7: 24,369,906 (GRCm39) |
|
probably benign |
Het |
Tmem255b |
C |
T |
8: 13,507,066 (GRCm39) |
T265I |
possibly damaging |
Het |
Trio |
G |
T |
15: 27,902,828 (GRCm39) |
A211D |
probably damaging |
Het |
Zfp638 |
C |
A |
6: 83,961,866 (GRCm39) |
Q1902K |
probably damaging |
Het |
|
Other mutations in Rcor2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R5262:Rcor2
|
UTSW |
19 |
7,251,426 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
|
Posted On |
2016-08-02 |