Incidental Mutation 'R1397:Nr2c2'
ID |
160185 |
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 |
039459-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.586)
|
Stock # |
R1397 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
92068426-92150039 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 92126745 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 78
(I78T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138465
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113460]
[ENSMUST00000113463]
[ENSMUST00000146175]
|
AlphaFold |
P49117 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000113460
AA Change: I78T
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000109087 Gene: ENSMUSG00000005893 AA Change: I78T
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: I111T
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000109090 Gene: ENSMUSG00000005893 AA Change: I111T
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: I78T
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000138465 Gene: ENSMUSG00000005893 AA Change: I78T
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: ENSMUST00000204538
|
Meta Mutation Damage Score |
0.0662 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.0%
|
Validation Efficiency |
98% (59/60) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,504,733 (GRCm39) |
E1222G |
probably benign |
Het |
Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
Ankmy2 |
T |
C |
12: 36,220,440 (GRCm39) |
|
probably benign |
Het |
Arhgef10l |
C |
T |
4: 140,271,754 (GRCm39) |
G827D |
probably damaging |
Het |
Chrac1 |
A |
G |
15: 72,962,293 (GRCm39) |
D3G |
possibly damaging |
Het |
Dmrtb1 |
G |
C |
4: 107,534,236 (GRCm39) |
P349R |
probably damaging |
Het |
Drd1 |
A |
G |
13: 54,207,573 (GRCm39) |
Y207H |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Epb41l3 |
T |
A |
17: 69,569,343 (GRCm39) |
|
probably null |
Het |
Fam13b |
C |
T |
18: 34,578,636 (GRCm39) |
M705I |
probably benign |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Iqgap2 |
A |
G |
13: 95,768,673 (GRCm39) |
I1409T |
probably benign |
Het |
Itih1 |
C |
T |
14: 30,651,862 (GRCm39) |
|
probably benign |
Het |
Itih5 |
A |
T |
2: 10,245,618 (GRCm39) |
D569V |
probably benign |
Het |
Krt9 |
A |
T |
11: 100,083,464 (GRCm39) |
L189Q |
probably damaging |
Het |
Mfsd11 |
T |
C |
11: 116,764,123 (GRCm39) |
F368S |
probably damaging |
Het |
Neb |
C |
A |
2: 52,133,955 (GRCm39) |
V3343F |
probably damaging |
Het |
Nfe2l3 |
T |
C |
6: 51,410,274 (GRCm39) |
S130P |
probably benign |
Het |
Nid1 |
G |
A |
13: 13,683,380 (GRCm39) |
A1153T |
possibly damaging |
Het |
Nrp1 |
T |
G |
8: 129,145,197 (GRCm39) |
Y84* |
probably null |
Het |
Pate2 |
T |
A |
9: 35,580,991 (GRCm39) |
F2I |
probably damaging |
Het |
Pign |
A |
G |
1: 105,585,496 (GRCm39) |
S18P |
probably damaging |
Het |
Pla2r1 |
T |
A |
2: 60,365,106 (GRCm39) |
T155S |
probably benign |
Het |
Rabl3 |
C |
T |
16: 37,360,336 (GRCm39) |
|
probably benign |
Het |
Rhbg |
C |
T |
3: 88,155,753 (GRCm39) |
V66I |
probably benign |
Het |
Rimkla |
C |
T |
4: 119,325,308 (GRCm39) |
G367E |
probably benign |
Het |
Rnpepl1 |
C |
A |
1: 92,844,881 (GRCm39) |
T391N |
probably damaging |
Het |
Rnps1 |
C |
T |
17: 24,631,031 (GRCm39) |
|
probably benign |
Het |
Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
Slc25a48 |
A |
C |
13: 56,612,864 (GRCm39) |
D254A |
probably damaging |
Het |
Slc28a2 |
T |
A |
2: 122,291,012 (GRCm39) |
C659* |
probably null |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Spata31d1a |
C |
T |
13: 59,852,853 (GRCm39) |
|
probably benign |
Het |
Srrm1 |
A |
C |
4: 135,048,742 (GRCm39) |
|
probably benign |
Het |
Srrt |
A |
G |
5: 137,298,523 (GRCm39) |
V247A |
possibly damaging |
Het |
Tnks2 |
T |
C |
19: 36,857,901 (GRCm39) |
|
probably benign |
Het |
Trim33 |
A |
G |
3: 103,217,750 (GRCm39) |
|
probably benign |
Het |
Trim42 |
T |
A |
9: 97,247,674 (GRCm39) |
I341F |
probably damaging |
Het |
Trim55 |
T |
C |
3: 19,698,801 (GRCm39) |
F10S |
probably benign |
Het |
Trpm1 |
T |
C |
7: 63,867,406 (GRCm39) |
W369R |
probably damaging |
Het |
Vps13d |
C |
T |
4: 144,867,904 (GRCm39) |
R1976H |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCAAGTGCAGACAGGTCTAAACAG -3'
(R):5'- CCTCATAACCTTGCCTATGCCAGTG -3'
Sequencing Primer
(F):5'- AGGTCTAAACAGGTCTAAAGACAC -3'
(R):5'- CAGTGTCTTTTCCTTGGATTAGC -3'
|
Posted On |
2014-03-14 |