Incidental Mutation 'R3945:Nr2c2'
| ID |
307641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr2c2
|
| Ensembl Gene |
ENSMUSG00000005893 |
| Gene Name |
nuclear receptor subfamily 2, group C, member 2 |
| Synonyms |
Tr4, TAK1 |
| MMRRC Submission |
040926-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.617)
|
| Stock # |
R3945 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
92068426-92150039 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 92140119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 464
(R464W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113460]
[ENSMUST00000113463]
[ENSMUST00000146175]
|
| AlphaFold |
P49117 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113460
AA Change: R464W
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109087
Gene: ENSMUSG00000005893
AA Change: R464W
| 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 damaging
Transcript: ENSMUST00000113463
AA Change: R497W
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109090
Gene: ENSMUSG00000005893
AA Change: R497W
| 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 |
probably damaging
Transcript: ENSMUST00000146175
AA Change: R464W
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138465
Gene: ENSMUSG00000005893
AA Change: R464W
| 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: ENSMUST00000204349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204497
|
| Meta Mutation Damage Score |
0.2279 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (54/54) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
C |
15: 81,949,601 (GRCm39) |
L1166P |
probably damaging |
Het |
| Actn4 |
T |
C |
7: 28,611,661 (GRCm39) |
|
probably null |
Het |
| Adamts17 |
A |
T |
7: 66,770,687 (GRCm39) |
E905V |
probably benign |
Het |
| Adck5 |
A |
G |
15: 76,479,400 (GRCm39) |
N485S |
probably damaging |
Het |
| Agr3 |
C |
A |
12: 35,997,512 (GRCm39) |
|
probably benign |
Het |
| Ankrd12 |
G |
A |
17: 66,283,098 (GRCm39) |
T1921I |
probably damaging |
Het |
| Ascl2 |
T |
C |
7: 142,521,708 (GRCm39) |
S247G |
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,510,880 (GRCm39) |
E422G |
probably benign |
Het |
| Bltp2 |
T |
C |
11: 78,180,790 (GRCm39) |
I2229T |
probably damaging |
Het |
| C630050I24Rik |
C |
T |
8: 107,845,894 (GRCm39) |
R15* |
probably null |
Het |
| Cabin1 |
T |
G |
10: 75,581,093 (GRCm39) |
Q411P |
probably damaging |
Het |
| Chrne |
T |
C |
11: 70,507,869 (GRCm39) |
I277V |
possibly damaging |
Het |
| Coch |
A |
G |
12: 51,648,595 (GRCm39) |
|
probably null |
Het |
| Corin |
A |
G |
5: 72,515,767 (GRCm39) |
V429A |
probably damaging |
Het |
| Cpa3 |
A |
T |
3: 20,279,281 (GRCm39) |
N219K |
probably damaging |
Het |
| Creb3l1 |
T |
C |
2: 91,821,556 (GRCm39) |
E273G |
probably damaging |
Het |
| Csmd1 |
A |
C |
8: 15,960,619 (GRCm39) |
|
probably null |
Het |
| Ddx59 |
A |
G |
1: 136,362,356 (GRCm39) |
D527G |
probably damaging |
Het |
| Defa25 |
G |
A |
8: 21,574,506 (GRCm39) |
V17I |
probably null |
Het |
| Efs |
A |
G |
14: 55,158,108 (GRCm39) |
|
probably benign |
Het |
| Ern2 |
A |
G |
7: 121,775,753 (GRCm39) |
M447T |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,779,485 (GRCm39) |
E596K |
possibly damaging |
Het |
| Filip1 |
T |
C |
9: 79,725,649 (GRCm39) |
K990R |
probably benign |
Het |
| Ipo8 |
T |
A |
6: 148,719,615 (GRCm39) |
Q110L |
probably damaging |
Het |
| Kank4 |
T |
A |
4: 98,659,517 (GRCm39) |
I854F |
probably damaging |
Het |
| Mst1 |
G |
A |
9: 107,962,052 (GRCm39) |
C681Y |
probably damaging |
Het |
| Or1s2 |
A |
G |
19: 13,758,786 (GRCm39) |
E270G |
probably benign |
Het |
| Or4f4b |
C |
T |
2: 111,314,032 (GRCm39) |
Q86* |
probably null |
Het |
| Pde11a |
T |
C |
2: 75,906,275 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,522,253 (GRCm39) |
|
probably benign |
Het |
| Rcbtb1 |
G |
A |
14: 59,462,225 (GRCm39) |
|
probably null |
Het |
| Rpl37 |
G |
A |
15: 5,147,176 (GRCm39) |
R72H |
probably benign |
Het |
| Samd9l |
A |
T |
6: 3,377,029 (GRCm39) |
S77R |
possibly damaging |
Het |
| Sin3b |
A |
G |
8: 73,460,067 (GRCm39) |
D218G |
possibly damaging |
Het |
| Slc22a23 |
A |
G |
13: 34,367,109 (GRCm39) |
I633T |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,204,664 (GRCm39) |
D1321G |
unknown |
Het |
| Ssh2 |
T |
C |
11: 77,345,494 (GRCm39) |
S1160P |
possibly damaging |
Het |
| Synrg |
T |
A |
11: 83,914,232 (GRCm39) |
D952E |
probably damaging |
Het |
| Tigd3 |
A |
G |
19: 5,942,461 (GRCm39) |
F223S |
probably damaging |
Het |
| Trim66 |
G |
A |
7: 109,071,475 (GRCm39) |
T608I |
possibly damaging |
Het |
| Trmt13 |
A |
G |
3: 116,375,167 (GRCm39) |
F447S |
probably damaging |
Het |
| Trpc2 |
T |
C |
7: 101,737,486 (GRCm39) |
I800T |
possibly damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,370,184 (GRCm39) |
I443F |
possibly damaging |
Het |
| Vamp2 |
C |
A |
11: 68,980,000 (GRCm39) |
P24Q |
unknown |
Het |
| Vmn1r113 |
A |
G |
7: 20,521,637 (GRCm39) |
Y143C |
probably benign |
Het |
| Vmn1r14 |
T |
A |
6: 57,211,254 (GRCm39) |
N277K |
probably benign |
Het |
| Vmn1r181 |
T |
A |
7: 23,683,577 (GRCm39) |
V14E |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,688,352 (GRCm39) |
I3086N |
probably damaging |
Het |
| Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
probably benign |
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 |
|
IGL01129:Nr2c2
|
APN |
6 |
92,135,397 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGAAATGCAGCCCTTG -3'
(R):5'- TCCCCAGGAACATTTCTTTAGGG -3'
Sequencing Primer
(F):5'- GCCCTTGACAAGCTTGAAATG -3'
(R):5'- AGGGCTTTCCTACACAACTGATG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation