Incidental Mutation 'R0035:Nr1h5'
| ID |
15376 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr1h5
|
| Ensembl Gene |
ENSMUSG00000048938 |
| Gene Name |
nuclear receptor subfamily 1, group H, member 5 |
| Synonyms |
FXRB |
| MMRRC Submission |
038329-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R0035 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
102846974-102871449 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 102856889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 208
(K208*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142345
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058899]
[ENSMUST00000196135]
[ENSMUST00000196983]
[ENSMUST00000197412]
[ENSMUST00000198472]
|
| AlphaFold |
E9Q5A6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000058899
AA Change: K208*
|
| SMART Domains |
Protein: ENSMUSP00000052557
Gene: ENSMUSG00000048938
AA Change: K208*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOLI
|
2 |
47 |
5e-9 |
BLAST |
|
ZnF_C4
|
119 |
190 |
2.51e-36 |
SMART |
|
HOLI
|
289 |
474 |
1.74e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083774
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000196135
AA Change: K150*
|
| SMART Domains |
Protein: ENSMUSP00000143445
Gene: ENSMUSG00000048938
AA Change: K150*
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
78 |
132 |
1.17e-7 |
SMART |
|
HOLI
|
231 |
416 |
1.74e-21 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000196983
AA Change: K208*
|
| SMART Domains |
Protein: ENSMUSP00000142799
Gene: ENSMUSG00000048938
AA Change: K208*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOLI
|
2 |
47 |
5e-9 |
BLAST |
|
ZnF_C4
|
119 |
190 |
2.51e-36 |
SMART |
|
HOLI
|
289 |
466 |
1.76e-22 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000197412
AA Change: K208*
|
| SMART Domains |
Protein: ENSMUSP00000143764
Gene: ENSMUSG00000048938
AA Change: K208*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOLI
|
2 |
47 |
4e-9 |
BLAST |
|
ZnF_C4
|
119 |
190 |
1e-38 |
SMART |
|
Pfam:Hormone_recep
|
274 |
362 |
6e-6 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000198472
AA Change: K208*
|
| SMART Domains |
Protein: ENSMUSP00000142345
Gene: ENSMUSG00000048938
AA Change: K208*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOLI
|
2 |
47 |
4e-9 |
BLAST |
|
ZnF_C4
|
119 |
190 |
1e-38 |
SMART |
|
Pfam:Hormone_recep
|
273 |
367 |
5.8e-6 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 75.6%
- 3x: 61.5%
- 10x: 31.6%
- 20x: 15.2%
|
| Validation Efficiency |
94% (51/54) |
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040N11Rik |
T |
C |
7: 81,438,297 (GRCm39) |
T20A |
probably benign |
Het |
| Acvr1c |
A |
G |
2: 58,205,791 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,393,581 (GRCm39) |
V1247A |
probably benign |
Het |
| Ap4b1 |
T |
C |
3: 103,727,980 (GRCm39) |
|
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,433,278 (GRCm39) |
E121G |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,508 (GRCm39) |
Y185N |
probably damaging |
Het |
| Clic5 |
A |
G |
17: 44,586,200 (GRCm39) |
T230A |
probably damaging |
Het |
| Clspn |
G |
T |
4: 126,458,796 (GRCm39) |
|
probably null |
Het |
| Deup1 |
T |
C |
9: 15,511,117 (GRCm39) |
R221G |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,902,595 (GRCm39) |
|
probably benign |
Het |
| Dnase1l2 |
A |
G |
17: 24,660,049 (GRCm39) |
V273A |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,829,698 (GRCm39) |
F328Y |
probably benign |
Het |
| Il23r |
A |
G |
6: 67,450,772 (GRCm39) |
|
probably benign |
Het |
| Il36b |
A |
T |
2: 24,049,890 (GRCm39) |
H167L |
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,967,836 (GRCm39) |
N1167D |
probably benign |
Het |
| Map6 |
C |
T |
7: 98,966,815 (GRCm39) |
T345I |
probably damaging |
Het |
| Mark2 |
A |
T |
19: 7,262,017 (GRCm39) |
|
probably benign |
Het |
| Obp2b |
T |
C |
2: 25,628,645 (GRCm39) |
L133P |
probably damaging |
Het |
| Ptafr |
C |
A |
4: 132,306,864 (GRCm39) |
L85I |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,139,504 (GRCm39) |
Y76* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,545,854 (GRCm39) |
|
probably benign |
Het |
| Rasef |
G |
T |
4: 73,681,091 (GRCm39) |
|
probably benign |
Het |
| Tbc1d17 |
T |
C |
7: 44,490,832 (GRCm39) |
N587D |
probably benign |
Het |
| Zc3h12c |
A |
T |
9: 52,055,047 (GRCm39) |
M235K |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,186,706 (GRCm39) |
G912D |
probably damaging |
Het |
| Zfp982 |
A |
C |
4: 147,597,149 (GRCm39) |
K169Q |
probably benign |
Het |
|
| Other mutations in Nr1h5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01829:Nr1h5
|
APN |
3 |
102,856,395 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02021:Nr1h5
|
APN |
3 |
102,855,058 (GRCm39) |
intron |
probably benign |
|
|
IGL02025:Nr1h5
|
APN |
3 |
102,856,942 (GRCm39) |
splice site |
probably benign |
|
|
IGL02094:Nr1h5
|
APN |
3 |
102,859,512 (GRCm39) |
nonsense |
probably null |
|
|
R0035:Nr1h5
|
UTSW |
3 |
102,856,889 (GRCm39) |
nonsense |
probably null |
|
|
R1200:Nr1h5
|
UTSW |
3 |
102,855,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1977:Nr1h5
|
UTSW |
3 |
102,855,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4173:Nr1h5
|
UTSW |
3 |
102,859,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4556:Nr1h5
|
UTSW |
3 |
102,853,457 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5018:Nr1h5
|
UTSW |
3 |
102,855,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5471:Nr1h5
|
UTSW |
3 |
102,856,442 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5617:Nr1h5
|
UTSW |
3 |
102,855,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5822:Nr1h5
|
UTSW |
3 |
102,856,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6243:Nr1h5
|
UTSW |
3 |
102,856,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6442:Nr1h5
|
UTSW |
3 |
102,848,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6754:Nr1h5
|
UTSW |
3 |
102,856,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6789:Nr1h5
|
UTSW |
3 |
102,865,677 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7235:Nr1h5
|
UTSW |
3 |
102,856,358 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7294:Nr1h5
|
UTSW |
3 |
102,852,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7756:Nr1h5
|
UTSW |
3 |
102,856,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7882:Nr1h5
|
UTSW |
3 |
102,856,931 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8187:Nr1h5
|
UTSW |
3 |
102,861,986 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8738:Nr1h5
|
UTSW |
3 |
102,862,015 (GRCm39) |
missense |
probably benign |
|
|
R9051:Nr1h5
|
UTSW |
3 |
102,853,427 (GRCm39) |
missense |
probably null |
0.00 |
|
R9549:Nr1h5
|
UTSW |
3 |
102,848,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0061:Nr1h5
|
UTSW |
3 |
102,852,564 (GRCm39) |
splice site |
probably null |
|
|
X0067:Nr1h5
|
UTSW |
3 |
102,856,442 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Protein Function and Prediction |
Nr1h5 encodes the class I nuclear receptor FXRβ (1). FXRα (NR1H4) and FXRβ (NR1H5) represent two forms of the farnesoid X receptor (FXR) in mammals (1); in humans and primates FXRβ is a pseudogene (2). FXRα and FXRβ heterodimerize with the retinoid X receptors (RXR, NR2B) to regulate gene expression (1). In mouse, FXRβ is transactivate only by lanosterol, a precursor of cholesterol; the function role of FXRβ is not known, but it may function in controlling cholesterol biosynthesis in nonprimates (2).
|
| Expression/Localization |
Murine FXRβ is widely coexpressed with FXR in embryonic and adult tissues (2).
|
| References |
1. Cai, S. Y., Xiong, L., Wray, C. G., Ballatori, N., and Boyer, J. L. (2007) The Farnesoid X Receptor FXRalpha/NR1H4 Acquired Ligand Specificity for Bile Salts Late in Vertebrate Evolution. Am J Physiol Regul Integr Comp Physiol. 293, R1400-9.
2. Otte, K., Kranz, H., Kober, I., Thompson, P., Hoefer, M., Haubold, B., Remmel, B., Voss, H., Kaiser, C., Albers, M., Cheruvallath, Z., Jackson, D., Casari, G., Koegl, M., Paabo, S., Mous, J., Kremoser, C., and Deuschle, U. (2003) Identification of Farnesoid X Receptor Beta as a Novel Mammalian Nuclear Receptor Sensing Lanosterol. Mol Cell Biol. 23, 864-872. |
| Posted On |
2012-12-17 |
| Science Writer |
Anne Murray |
Incidental Mutation