Incidental Mutation 'IGL01129:Nr2c2'
| ID |
51359 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nr2c2
|
| Ensembl Gene |
ENSMUSG00000005893 |
| Gene Name |
nuclear receptor subfamily 2, group C, member 2 |
| Synonyms |
Tr4, TAK1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.617)
|
| Stock # |
IGL01129
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
92068426-92150039 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 92135397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 328
(D328E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113460]
[ENSMUST00000113463]
[ENSMUST00000146175]
|
| AlphaFold |
P49117 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113460
AA Change: D295E
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000109087
Gene: ENSMUSG00000005893
AA Change: D295E
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
114 |
185 |
4.33e-40 |
SMART |
|
Blast:HOLI
|
238 |
324 |
4e-46 |
BLAST |
|
HOLI
|
388 |
554 |
1.9e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113463
AA Change: D328E
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000109090
Gene: ENSMUSG00000005893
AA Change: D328E
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
147 |
218 |
4.33e-40 |
SMART |
|
Blast:HOLI
|
271 |
357 |
6e-46 |
BLAST |
|
HOLI
|
421 |
587 |
1.9e-36 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133321
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146175
AA Change: D295E
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000138465
Gene: ENSMUSG00000005893
AA Change: D295E
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
114 |
185 |
4.33e-40 |
SMART |
|
Blast:HOLI
|
238 |
324 |
7e-47 |
BLAST |
|
Pfam:Hormone_recep
|
367 |
493 |
8.8e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204497
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the nuclear hormone receptor family. Members of this family act as ligand-activated transcription factors and function in many biological processes such as development, cellular differentiation and homeostasis. The activated receptor/ligand complex is translocated to the nucleus where it binds to hormone response elements of target genes. The protein encoded by this gene plays a role in protecting cells from oxidative stress and damage induced by ionizing radiation. The lack of a similar gene in mouse results in growth retardation, severe spinal curvature, subfertility, premature aging, and prostatic intraepithelial neoplasia (PIN) development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous null mice display reduced body size, reduced male fertility, and impaired spermatogenesis. Mice homozygous for a conditional allele activated in the CNS exhibit increased thermal, mechanical and chemical nociception threshold, decreased pruritus and neuronal loss in the spinal cord. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
A |
T |
X: 66,964,210 (GRCm39) |
F216L |
possibly damaging |
Het |
| Bace2 |
T |
G |
16: 97,209,630 (GRCm39) |
N181K |
probably damaging |
Het |
| Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
| Ckap2 |
C |
T |
8: 22,659,774 (GRCm39) |
G569D |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 113,979,522 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,535,846 (GRCm39) |
D939N |
unknown |
Het |
| Creb3l2 |
A |
T |
6: 37,330,569 (GRCm39) |
|
probably benign |
Het |
| Cuedc1 |
T |
A |
11: 88,074,080 (GRCm39) |
S205T |
possibly damaging |
Het |
| Cux1 |
G |
A |
5: 136,333,572 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
A |
G |
5: 146,035,089 (GRCm39) |
M256V |
probably benign |
Het |
| Gzf1 |
C |
A |
2: 148,532,916 (GRCm39) |
P690Q |
probably damaging |
Het |
| Lrch3 |
T |
A |
16: 32,815,335 (GRCm39) |
D575E |
probably benign |
Het |
| Lypd3 |
A |
G |
7: 24,340,018 (GRCm39) |
M362V |
probably benign |
Het |
| Mppe1 |
C |
A |
18: 67,370,515 (GRCm39) |
G61* |
probably null |
Het |
| Or6b9 |
T |
C |
7: 106,555,634 (GRCm39) |
N170D |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,825,505 (GRCm39) |
V114E |
probably damaging |
Het |
| Rab14 |
T |
C |
2: 35,073,398 (GRCm39) |
|
probably benign |
Het |
| Slc30a9 |
G |
T |
5: 67,499,486 (GRCm39) |
G315C |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,935,681 (GRCm39) |
S303C |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,967,333 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
C |
7: 127,120,823 (GRCm39) |
V161A |
probably damaging |
Het |
| Srd5a3 |
A |
G |
5: 76,297,593 (GRCm39) |
|
probably benign |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,482 (GRCm39) |
F24Y |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,887,165 (GRCm39) |
T259S |
probably benign |
Het |
| Zc3h13 |
G |
A |
14: 75,573,439 (GRCm39) |
D1527N |
probably damaging |
Het |
|
| Other mutations in Nr2c2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00596:Nr2c2
|
APN |
6 |
92,126,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01578:Nr2c2
|
APN |
6 |
92,139,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02281:Nr2c2
|
APN |
6 |
92,131,495 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1385:Nr2c2
|
UTSW |
6 |
92,131,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1397:Nr2c2
|
UTSW |
6 |
92,126,745 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1503:Nr2c2
|
UTSW |
6 |
92,082,312 (GRCm39) |
missense |
probably benign |
|
|
R1691:Nr2c2
|
UTSW |
6 |
92,133,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1779:Nr2c2
|
UTSW |
6 |
92,136,224 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2655:Nr2c2
|
UTSW |
6 |
92,140,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3840:Nr2c2
|
UTSW |
6 |
92,140,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3841:Nr2c2
|
UTSW |
6 |
92,140,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3923:Nr2c2
|
UTSW |
6 |
92,137,382 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3926:Nr2c2
|
UTSW |
6 |
92,137,382 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3945:Nr2c2
|
UTSW |
6 |
92,140,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3946:Nr2c2
|
UTSW |
6 |
92,140,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4721:Nr2c2
|
UTSW |
6 |
92,116,828 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5038:Nr2c2
|
UTSW |
6 |
92,116,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5101:Nr2c2
|
UTSW |
6 |
92,131,497 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5524:Nr2c2
|
UTSW |
6 |
92,116,746 (GRCm39) |
splice site |
probably null |
|
|
R6884:Nr2c2
|
UTSW |
6 |
92,135,374 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7046:Nr2c2
|
UTSW |
6 |
92,135,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7278:Nr2c2
|
UTSW |
6 |
92,136,359 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7316:Nr2c2
|
UTSW |
6 |
92,131,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9238:Nr2c2
|
UTSW |
6 |
92,144,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9497:Nr2c2
|
UTSW |
6 |
92,133,673 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Posted On |
2013-06-21 |
Incidental Mutation