Incidental Mutation 'R3841:Nr2c2'
| ID |
277156 |
| 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 |
040781-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.617)
|
| Stock # |
R3841 (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: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
98% (43/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
T |
18: 6,620,104 (GRCm39) |
K11N |
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,365,540 (GRCm39) |
F405L |
possibly damaging |
Het |
| BC035947 |
G |
T |
1: 78,474,482 (GRCm39) |
N683K |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,384,727 (GRCm39) |
|
probably null |
Het |
| Btnl7-ps |
A |
G |
17: 34,761,550 (GRCm39) |
|
noncoding transcript |
Het |
| Cmya5 |
A |
G |
13: 93,231,140 (GRCm39) |
V1316A |
probably damaging |
Het |
| Cracd |
A |
T |
5: 77,006,858 (GRCm39) |
Q1073L |
unknown |
Het |
| Dgcr6 |
C |
A |
16: 17,888,077 (GRCm39) |
Y200* |
probably null |
Het |
| Dsp |
A |
C |
13: 38,381,681 (GRCm39) |
I2210L |
probably benign |
Het |
| Eef1e1 |
G |
A |
13: 38,840,167 (GRCm39) |
T46I |
probably damaging |
Het |
| Epc2 |
A |
G |
2: 49,378,750 (GRCm39) |
K68R |
probably damaging |
Het |
| F11r |
G |
T |
1: 171,288,457 (GRCm39) |
R100L |
probably damaging |
Het |
| Fam83c |
C |
T |
2: 155,676,668 (GRCm39) |
R34H |
probably benign |
Het |
| Fbxw25 |
A |
T |
9: 109,491,202 (GRCm39) |
Y105* |
probably null |
Het |
| Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
| Hipk2 |
T |
C |
6: 38,795,861 (GRCm39) |
E136G |
probably damaging |
Het |
| Hsph1 |
T |
A |
5: 149,544,180 (GRCm39) |
|
probably null |
Het |
| Impdh1 |
A |
G |
6: 29,202,768 (GRCm39) |
S421P |
probably damaging |
Het |
| Jhy |
T |
A |
9: 40,856,142 (GRCm39) |
E115V |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,742,588 (GRCm39) |
|
probably benign |
Het |
| Ldlrap1 |
T |
C |
4: 134,477,747 (GRCm39) |
T159A |
probably damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,537 (GRCm39) |
T388A |
probably damaging |
Het |
| Map3k10 |
C |
A |
7: 27,357,789 (GRCm39) |
C663F |
possibly damaging |
Het |
| Me3 |
A |
T |
7: 89,435,701 (GRCm39) |
N179Y |
possibly damaging |
Het |
| Medag |
T |
A |
5: 149,350,888 (GRCm39) |
I121N |
probably damaging |
Het |
| Mocos |
C |
T |
18: 24,809,681 (GRCm39) |
A428V |
probably damaging |
Het |
| Mok |
C |
T |
12: 110,781,591 (GRCm39) |
V59M |
probably benign |
Het |
| Neb |
C |
A |
2: 52,097,672 (GRCm39) |
|
probably null |
Het |
| Or52s1 |
G |
A |
7: 102,861,900 (GRCm39) |
G267R |
probably damaging |
Het |
| Or6c35 |
A |
G |
10: 129,169,202 (GRCm39) |
I151V |
probably benign |
Het |
| Otud1 |
G |
T |
2: 19,663,554 (GRCm39) |
E228* |
probably null |
Het |
| Parp4 |
A |
T |
14: 56,825,235 (GRCm39) |
N120Y |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,182,887 (GRCm39) |
V1521A |
possibly damaging |
Het |
| Rap1gap |
T |
C |
4: 137,444,758 (GRCm39) |
F182S |
probably damaging |
Het |
| Rcan2 |
A |
G |
17: 44,347,870 (GRCm39) |
K193R |
probably benign |
Het |
| Rdh19 |
A |
T |
10: 127,692,755 (GRCm39) |
M141L |
probably benign |
Het |
| Selenok |
C |
T |
14: 29,695,337 (GRCm39) |
R72* |
probably null |
Het |
| Tbpl1 |
A |
G |
10: 22,587,807 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,917,897 (GRCm39) |
E2270G |
possibly damaging |
Het |
| Tulp1 |
A |
G |
17: 28,572,689 (GRCm39) |
V489A |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,611,065 (GRCm39) |
|
probably benign |
Het |
| Zfp617 |
G |
A |
8: 72,685,961 (GRCm39) |
G97E |
probably damaging |
Het |
| Zfp773 |
A |
G |
7: 7,135,390 (GRCm39) |
V402A |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGAAATGCAGCCCTTG -3'
(R):5'- TCCCCAGGAACATTTCTTTAGG -3'
Sequencing Primer
(F):5'- GCCCTTGACAAGCTTGAAATG -3'
(R):5'- AGGGCTTTCCTACACAACTGATG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation