Incidental Mutation 'R2432:Nr1h2'
| ID |
250446 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr1h2
|
| Ensembl Gene |
ENSMUSG00000060601 |
| Gene Name |
nuclear receptor subfamily 1, group H, member 2 |
| Synonyms |
Unr2, LXRB, RIP15, LXRbeta |
| MMRRC Submission |
040393-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.655)
|
| Stock # |
R2432 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44199040-44203375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44200791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 279
(Q279R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049343]
[ENSMUST00000073488]
[ENSMUST00000107910]
[ENSMUST00000107911]
[ENSMUST00000107912]
[ENSMUST00000167197]
[ENSMUST00000208366]
[ENSMUST00000207737]
[ENSMUST00000128600]
[ENSMUST00000142298]
[ENSMUST00000145956]
[ENSMUST00000151793]
[ENSMUST00000209017]
|
| AlphaFold |
Q60644 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049343
|
| SMART Domains |
Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
34 |
58 |
N/A |
INTRINSIC |
|
Blast:POLBc
|
65 |
108 |
1e-7 |
BLAST |
|
low complexity region
|
212 |
225 |
N/A |
INTRINSIC |
|
Blast:POLBc
|
227 |
279 |
1e-19 |
BLAST |
|
POLBc
|
306 |
763 |
2.53e-161 |
SMART |
|
Blast:POLBc
|
790 |
837 |
1e-18 |
BLAST |
|
Pfam:zf-C4pol
|
1010 |
1080 |
5.1e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073488
AA Change: Q279R
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000073188
Gene: ENSMUSG00000060601
AA Change: Q279R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
ZnF_C4
|
75 |
148 |
5.81e-32 |
SMART |
|
low complexity region
|
153 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
202 |
N/A |
INTRINSIC |
|
HOLI
|
258 |
417 |
2.08e-42 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107910
AA Change: Q276R
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103543
Gene: ENSMUSG00000060601
AA Change: Q276R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
ZnF_C4
|
72 |
145 |
5.81e-32 |
SMART |
|
low complexity region
|
150 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
199 |
N/A |
INTRINSIC |
|
HOLI
|
255 |
414 |
2.08e-42 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107911
AA Change: Q276R
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103544
Gene: ENSMUSG00000060601
AA Change: Q276R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
ZnF_C4
|
72 |
145 |
5.81e-32 |
SMART |
|
low complexity region
|
150 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
199 |
N/A |
INTRINSIC |
|
HOLI
|
255 |
414 |
2.08e-42 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107912
AA Change: Q279R
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103545
Gene: ENSMUSG00000060601
AA Change: Q279R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
ZnF_C4
|
75 |
148 |
5.81e-32 |
SMART |
|
low complexity region
|
153 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
202 |
N/A |
INTRINSIC |
|
HOLI
|
258 |
417 |
2.08e-42 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123358
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132769
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167197
AA Change: Q279R
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000126788
Gene: ENSMUSG00000060601
AA Change: Q279R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
ZnF_C4
|
75 |
148 |
5.81e-32 |
SMART |
|
low complexity region
|
153 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
202 |
N/A |
INTRINSIC |
|
HOLI
|
258 |
417 |
2.08e-42 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000208322
AA Change: Q197R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138746
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208366
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207737
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128600
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136611
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141901
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207550
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142298
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145956
|
| SMART Domains |
Protein: ENSMUSP00000117844
Gene: ENSMUSG00000038644
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
34 |
58 |
N/A |
INTRINSIC |
|
Blast:POLBc
|
65 |
108 |
2e-8 |
BLAST |
|
PDB:3IAY|A
|
76 |
151 |
7e-8 |
PDB |
|
SCOP:d1tgoa1
|
117 |
153 |
3e-10 |
SMART |
|
Blast:POLBc
|
130 |
153 |
7e-7 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151793
|
| SMART Domains |
Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
34 |
58 |
N/A |
INTRINSIC |
|
Blast:POLBc
|
66 |
108 |
1e-7 |
BLAST |
|
low complexity region
|
212 |
225 |
N/A |
INTRINSIC |
|
Blast:POLBc
|
227 |
279 |
1e-19 |
BLAST |
|
POLBc
|
306 |
763 |
7.8e-164 |
SMART |
|
Blast:POLBc
|
790 |
837 |
1e-18 |
BLAST |
|
low complexity region
|
914 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
959 |
980 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209017
|
| Meta Mutation Damage Score |
0.3445 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with retinoid X receptors (RXRs; see MIM 180245) and regulate expression of target genes containing LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010]
PHENOTYPE: Homozygous null mutations cause altered lipid, cholesterol and glucose metabolism and may lead to elevated cartilage matrix catabolism and PGE2 production, lipid-laden uterus myocytes and Sertoli cells, impaired uterus contractility and parturition, and higher susceptibility to bacterial infection. [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 |
|---|
| Abca13 |
T |
C |
11: 9,401,333 (GRCm39) |
|
probably benign |
Het |
| Adamts6 |
A |
T |
13: 104,563,485 (GRCm39) |
Y659F |
probably benign |
Het |
| Adamts9 |
C |
A |
6: 92,834,881 (GRCm39) |
G750W |
probably damaging |
Het |
| Adgrv1 |
GA |
GAA |
13: 81,688,251 (GRCm39) |
|
probably null |
Het |
| Aspscr1 |
A |
G |
11: 120,593,392 (GRCm39) |
|
probably benign |
Het |
| Calr3 |
A |
G |
8: 73,192,270 (GRCm39) |
|
probably benign |
Het |
| Cpt2 |
A |
T |
4: 107,761,723 (GRCm39) |
Y126* |
probably null |
Het |
| Cyp2d34 |
A |
G |
15: 82,503,212 (GRCm39) |
L94P |
probably damaging |
Het |
| Def6 |
A |
T |
17: 28,447,043 (GRCm39) |
D558V |
probably benign |
Het |
| Dnase1l2 |
G |
A |
17: 24,661,699 (GRCm39) |
T20I |
possibly damaging |
Het |
| Eif5b |
A |
G |
1: 38,058,423 (GRCm39) |
K242E |
unknown |
Het |
| Golim4 |
T |
C |
3: 75,799,249 (GRCm39) |
N478S |
possibly damaging |
Het |
| Helb |
A |
T |
10: 119,941,442 (GRCm39) |
D415E |
probably benign |
Het |
| Ifna12 |
T |
A |
4: 88,521,590 (GRCm39) |
|
probably benign |
Het |
| Jhy |
T |
A |
9: 40,872,182 (GRCm39) |
H109L |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,386,037 (GRCm39) |
Y241* |
probably null |
Het |
| Macf1 |
G |
T |
4: 123,577,789 (GRCm39) |
A65E |
probably damaging |
Het |
| Mug2 |
C |
A |
6: 122,061,335 (GRCm39) |
N1418K |
possibly damaging |
Het |
| Myo1f |
A |
G |
17: 33,794,823 (GRCm39) |
D21G |
probably damaging |
Het |
| Myo5a |
T |
A |
9: 75,120,155 (GRCm39) |
I1651N |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,372,778 (GRCm39) |
C598S |
probably damaging |
Het |
| Npat |
A |
T |
9: 53,469,435 (GRCm39) |
H307L |
probably damaging |
Het |
| Or4k52 |
T |
C |
2: 111,611,016 (GRCm39) |
V117A |
probably benign |
Het |
| Or6c6c |
A |
G |
10: 129,540,794 (GRCm39) |
T16A |
possibly damaging |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,983 (GRCm39) |
N648Y |
probably damaging |
Het |
| Pdzrn3 |
G |
T |
6: 101,127,752 (GRCm39) |
S971R |
probably damaging |
Het |
| Plch2 |
A |
G |
4: 155,070,621 (GRCm39) |
*494Q |
probably null |
Het |
| Plekhg4 |
T |
A |
8: 106,108,468 (GRCm39) |
D1170E |
probably benign |
Het |
| Plekhm3 |
A |
G |
1: 64,977,015 (GRCm39) |
S152P |
probably damaging |
Het |
| Ppargc1b |
G |
A |
18: 61,440,870 (GRCm39) |
P683S |
possibly damaging |
Het |
| Prdm12 |
T |
G |
2: 31,541,864 (GRCm39) |
M191R |
probably benign |
Het |
| Prdm14 |
T |
C |
1: 13,195,857 (GRCm39) |
D68G |
probably benign |
Het |
| Prp2 |
C |
T |
6: 132,576,874 (GRCm39) |
P54S |
unknown |
Het |
| Prpf4b |
A |
G |
13: 35,067,324 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,468,840 (GRCm39) |
V1408E |
probably damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,662,011 (GRCm39) |
M415T |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,520,664 (GRCm39) |
F621S |
probably damaging |
Het |
| Rrm1 |
T |
A |
7: 102,092,279 (GRCm39) |
D35E |
probably benign |
Het |
| Rxfp3 |
T |
C |
15: 11,036,226 (GRCm39) |
H382R |
probably damaging |
Het |
| Slc11a1 |
A |
G |
1: 74,422,910 (GRCm39) |
|
probably benign |
Het |
| Slc25a13 |
A |
T |
6: 6,114,017 (GRCm39) |
M285K |
probably benign |
Het |
| Slc30a3 |
T |
C |
5: 31,246,038 (GRCm39) |
S231G |
probably damaging |
Het |
| Slc44a2 |
A |
T |
9: 21,256,130 (GRCm39) |
I274F |
probably damaging |
Het |
| Tas2r119 |
A |
G |
15: 32,178,165 (GRCm39) |
I244V |
possibly damaging |
Het |
| Tenm2 |
C |
A |
11: 35,918,018 (GRCm39) |
R1914L |
probably damaging |
Het |
| Tfdp2 |
T |
C |
9: 96,192,643 (GRCm39) |
M242T |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,349,304 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
C |
T |
12: 57,668,821 (GRCm39) |
P421L |
possibly damaging |
Het |
| Usp16 |
T |
A |
16: 87,263,246 (GRCm39) |
|
probably null |
Het |
| Usp40 |
T |
C |
1: 87,909,804 (GRCm39) |
E550G |
probably benign |
Het |
| Vmn2r28 |
T |
C |
7: 5,491,701 (GRCm39) |
Y182C |
probably damaging |
Het |
| Zfp382 |
A |
G |
7: 29,833,174 (GRCm39) |
D275G |
probably benign |
Het |
|
| Other mutations in Nr1h2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02211:Nr1h2
|
APN |
7 |
44,199,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02327:Nr1h2
|
APN |
7 |
44,200,924 (GRCm39) |
unclassified |
probably benign |
|
|
bisogno
|
UTSW |
7 |
44,199,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pickens
|
UTSW |
7 |
44,199,746 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
quiero
|
UTSW |
7 |
44,201,961 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0179:Nr1h2
|
UTSW |
7 |
44,201,689 (GRCm39) |
splice site |
probably null |
|
|
R0433:Nr1h2
|
UTSW |
7 |
44,199,411 (GRCm39) |
makesense |
probably null |
|
|
R0597:Nr1h2
|
UTSW |
7 |
44,201,684 (GRCm39) |
intron |
probably benign |
|
|
R4635:Nr1h2
|
UTSW |
7 |
44,201,961 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4662:Nr1h2
|
UTSW |
7 |
44,199,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4675:Nr1h2
|
UTSW |
7 |
44,201,979 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4782:Nr1h2
|
UTSW |
7 |
44,199,923 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5064:Nr1h2
|
UTSW |
7 |
44,201,073 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5191:Nr1h2
|
UTSW |
7 |
44,199,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6266:Nr1h2
|
UTSW |
7 |
44,201,476 (GRCm39) |
nonsense |
probably null |
|
|
R6933:Nr1h2
|
UTSW |
7 |
44,199,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7323:Nr1h2
|
UTSW |
7 |
44,199,746 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7577:Nr1h2
|
UTSW |
7 |
44,200,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8099:Nr1h2
|
UTSW |
7 |
44,199,746 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8431:Nr1h2
|
UTSW |
7 |
44,199,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8754:Nr1h2
|
UTSW |
7 |
44,200,768 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8962:Nr1h2
|
UTSW |
7 |
44,201,463 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9079:Nr1h2
|
UTSW |
7 |
44,199,430 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Nr1h2
|
UTSW |
7 |
44,200,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCCATCTGATATCCTCCG -3'
(R):5'- CAGCCCAAAGTCACGGTATC -3'
Sequencing Primer
(F):5'- AGCCCATCTGATATCCTCCGTTATTC -3'
(R):5'- AAAGTCACGGTATCGCCCTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation