Incidental Mutation 'R3926:Nr2c2'
| ID |
308280 |
| 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 |
040821-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.586)
|
| Stock # |
R3926 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
92068426-92150039 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 92137382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 431
(M431K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113460]
[ENSMUST00000113463]
[ENSMUST00000146175]
|
| AlphaFold |
P49117 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113460
AA Change: M398K
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109087
Gene: ENSMUSG00000005893
AA Change: M398K
| 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: M431K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109090
Gene: ENSMUSG00000005893
AA Change: M431K
| 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 |
possibly damaging
Transcript: ENSMUST00000146175
AA Change: M398K
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138465
Gene: ENSMUSG00000005893
AA Change: M398K
| 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 |
0.9646 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
98% (55/56) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Ahnak |
G |
A |
19: 8,983,692 (GRCm39) |
D1659N |
probably benign |
Het |
| Arfgap2 |
C |
T |
2: 91,105,150 (GRCm39) |
R405W |
probably damaging |
Het |
| Asb14 |
T |
C |
14: 26,619,695 (GRCm39) |
I48T |
possibly damaging |
Het |
| Astn1 |
A |
T |
1: 158,407,227 (GRCm39) |
I559F |
possibly damaging |
Het |
| Atg7 |
C |
T |
6: 114,650,639 (GRCm39) |
T83M |
possibly damaging |
Het |
| Bco1 |
T |
C |
8: 117,854,211 (GRCm39) |
S379P |
probably benign |
Het |
| Becn2 |
T |
C |
1: 175,748,852 (GRCm39) |
V306A |
probably benign |
Het |
| Bst1 |
T |
C |
5: 43,997,796 (GRCm39) |
V265A |
possibly damaging |
Het |
| Car11 |
T |
C |
7: 45,349,915 (GRCm39) |
F45L |
probably benign |
Het |
| Cdkl2 |
T |
C |
5: 92,180,998 (GRCm39) |
I214V |
possibly damaging |
Het |
| Cluap1 |
T |
A |
16: 3,729,398 (GRCm39) |
S141T |
probably damaging |
Het |
| Col11a1 |
C |
T |
3: 113,883,773 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Corin |
T |
G |
5: 72,529,473 (GRCm39) |
D294A |
probably damaging |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Ddx41 |
A |
G |
13: 55,679,083 (GRCm39) |
L559P |
probably damaging |
Het |
| Ddx59 |
T |
A |
1: 136,344,482 (GRCm39) |
V51D |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,071,697 (GRCm39) |
N397D |
probably benign |
Het |
| Evc2 |
T |
A |
5: 37,540,574 (GRCm39) |
L590Q |
probably damaging |
Het |
| Fhl5 |
A |
T |
4: 25,214,790 (GRCm39) |
|
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,110,522 (GRCm39) |
Y850C |
unknown |
Het |
| Gal3st2b |
G |
T |
1: 93,868,512 (GRCm39) |
V246L |
probably benign |
Het |
| Jam3 |
A |
T |
9: 27,017,701 (GRCm39) |
I29K |
possibly damaging |
Het |
| Klhl1 |
A |
T |
14: 96,584,316 (GRCm39) |
C305S |
possibly damaging |
Het |
| Lims2 |
A |
G |
18: 32,090,996 (GRCm39) |
S327G |
probably benign |
Het |
| Lynx1 |
A |
G |
15: 74,623,205 (GRCm39) |
Y76H |
probably damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,441,936 (GRCm39) |
P1943L |
probably damaging |
Het |
| Myo3a |
A |
G |
2: 22,455,053 (GRCm39) |
D86G |
probably damaging |
Het |
| Nkx3-2 |
T |
A |
5: 41,919,223 (GRCm39) |
Q255L |
probably damaging |
Het |
| Notch3 |
C |
T |
17: 32,372,531 (GRCm39) |
R641H |
possibly damaging |
Het |
| Ogfod3 |
T |
C |
11: 121,074,255 (GRCm39) |
T265A |
probably damaging |
Het |
| Pcdh9 |
G |
T |
14: 94,124,246 (GRCm39) |
Y641* |
probably null |
Het |
| Pcdha9 |
T |
A |
18: 37,132,465 (GRCm39) |
D511E |
probably damaging |
Het |
| Pcdhgb8 |
A |
G |
18: 37,895,443 (GRCm39) |
Y171C |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 82,005,505 (GRCm39) |
C1075R |
probably damaging |
Het |
| Pik3c3 |
C |
A |
18: 30,444,382 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,621,097 (GRCm39) |
T854A |
probably benign |
Het |
| Pycr1 |
T |
C |
11: 120,532,961 (GRCm39) |
T100A |
probably benign |
Het |
| Rhof |
T |
C |
5: 123,242,593 (GRCm39) |
|
probably null |
Het |
| Scn9a |
T |
A |
2: 66,357,217 (GRCm39) |
D1028V |
possibly damaging |
Het |
| Serpina3f |
T |
C |
12: 104,185,740 (GRCm39) |
I315T |
possibly damaging |
Het |
| Slc1a6 |
T |
A |
10: 78,648,715 (GRCm39) |
S479T |
possibly damaging |
Het |
| Tmcc1 |
T |
C |
6: 116,019,874 (GRCm39) |
D166G |
probably damaging |
Het |
| Trav3-3 |
A |
G |
14: 53,903,828 (GRCm39) |
K49E |
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,942,223 (GRCm39) |
|
probably null |
Het |
| Utrn |
C |
T |
10: 12,573,786 (GRCm39) |
V1095I |
probably benign |
Het |
| Zfp217 |
T |
C |
2: 169,954,438 (GRCm39) |
D1038G |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,644,397 (GRCm39) |
R609G |
probably damaging |
Het |
| Zfp729a |
T |
A |
13: 67,768,310 (GRCm39) |
K640* |
probably null |
Het |
| Zfp986 |
A |
T |
4: 145,619,090 (GRCm39) |
|
probably benign |
Het |
| Zkscan6 |
A |
T |
11: 65,719,051 (GRCm39) |
H357L |
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 |
|
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'- AGACAGTTACCATTGTTGAAACAGG -3'
(R):5'- TCCTAGCAACAAATCCTTGGC -3'
Sequencing Primer
(F):5'- CCATTGTTGAAACAGGAGATAAGTTG -3'
(R):5'- AGAACTATTGTTTCTTTCAGTCTGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation