Incidental Mutation 'R7756:Nr1h5'
ID |
597538 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nr1h5
|
Ensembl Gene |
ENSMUSG00000048938 |
Gene Name |
nuclear receptor subfamily 1, group H, member 5 |
Synonyms |
FXRB |
MMRRC Submission |
045812-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R7756 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
102846974-102871449 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102856925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 196
(I196V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052557
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058899]
[ENSMUST00000196135]
[ENSMUST00000196983]
[ENSMUST00000197412]
[ENSMUST00000198472]
|
AlphaFold |
E9Q5A6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058899
AA Change: I196V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000052557 Gene: ENSMUSG00000048938 AA Change: I196V
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 |
probably benign
Transcript: ENSMUST00000196135
AA Change: I138V
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000143445 Gene: ENSMUSG00000048938 AA Change: I138V
Domain | Start | End | E-Value | Type |
ZnF_C4
|
78 |
132 |
1.17e-7 |
SMART |
HOLI
|
231 |
416 |
1.74e-21 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196983
AA Change: I196V
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000142799 Gene: ENSMUSG00000048938 AA Change: I196V
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 benign
Transcript: ENSMUST00000197412
AA Change: I196V
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000143764 Gene: ENSMUSG00000048938 AA Change: I196V
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 benign
Transcript: ENSMUST00000198472
AA Change: I196V
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000142345 Gene: ENSMUSG00000048938 AA Change: I196V
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
All alleles(1) : Targeted(1)
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd60 |
T |
C |
2: 173,410,562 (GRCm39) |
*319W |
probably null |
Het |
Bpnt2 |
A |
T |
4: 4,769,385 (GRCm39) |
H243Q |
probably damaging |
Het |
Brd4 |
A |
G |
17: 32,417,956 (GRCm39) |
I1157T |
unknown |
Het |
Btbd2 |
T |
C |
10: 80,484,440 (GRCm39) |
I159V |
probably benign |
Het |
Card6 |
G |
A |
15: 5,129,378 (GRCm39) |
Q673* |
probably null |
Het |
Cdyl |
T |
A |
13: 36,056,624 (GRCm39) |
Y585N |
probably damaging |
Het |
Cep192 |
A |
C |
18: 67,989,384 (GRCm39) |
I1844L |
possibly damaging |
Het |
Cfap99 |
G |
T |
5: 34,459,952 (GRCm39) |
C105F |
probably damaging |
Het |
Clcn6 |
T |
C |
4: 148,113,896 (GRCm39) |
D54G |
probably damaging |
Het |
Dennd5a |
T |
C |
7: 109,520,714 (GRCm39) |
N381S |
possibly damaging |
Het |
Disp1 |
A |
C |
1: 182,871,298 (GRCm39) |
V374G |
probably damaging |
Het |
Dock4 |
C |
T |
12: 40,760,878 (GRCm39) |
T522I |
probably benign |
Het |
Fcer1a |
A |
G |
1: 173,049,142 (GRCm39) |
L223P |
probably damaging |
Het |
Fstl4 |
C |
A |
11: 53,059,123 (GRCm39) |
D527E |
possibly damaging |
Het |
Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
Gm5460 |
A |
T |
14: 33,757,114 (GRCm39) |
T64S |
probably benign |
Het |
Gys1 |
T |
C |
7: 45,097,726 (GRCm39) |
V491A |
probably benign |
Het |
Hoxa9 |
A |
T |
6: 52,202,542 (GRCm39) |
N181K |
probably benign |
Het |
Ift81 |
A |
T |
5: 122,689,088 (GRCm39) |
L676H |
probably damaging |
Het |
Inava |
A |
G |
1: 136,144,171 (GRCm39) |
S422P |
probably benign |
Het |
Itga1 |
T |
A |
13: 115,128,996 (GRCm39) |
D554V |
probably benign |
Het |
Lin7c |
T |
A |
2: 109,726,717 (GRCm39) |
I122K |
probably damaging |
Het |
Malt1 |
A |
G |
18: 65,606,190 (GRCm39) |
I622V |
probably benign |
Het |
Megf8 |
T |
C |
7: 25,041,850 (GRCm39) |
|
probably null |
Het |
Morc2b |
A |
G |
17: 33,355,981 (GRCm39) |
V597A |
probably damaging |
Het |
Or10d4 |
T |
C |
9: 39,580,371 (GRCm39) |
M6T |
probably benign |
Het |
Or2a20 |
T |
A |
6: 43,193,950 (GRCm39) |
Y34* |
probably null |
Het |
Or8g2 |
T |
G |
9: 39,821,621 (GRCm39) |
I174S |
possibly damaging |
Het |
Pdlim1 |
G |
A |
19: 40,231,986 (GRCm39) |
P131S |
probably benign |
Het |
Plekhh1 |
T |
C |
12: 79,117,578 (GRCm39) |
I858T |
probably benign |
Het |
Pls1 |
T |
C |
9: 95,658,897 (GRCm39) |
N197S |
probably benign |
Het |
Pnma8a |
A |
T |
7: 16,695,224 (GRCm39) |
T360S |
probably benign |
Het |
Pon1 |
A |
T |
6: 5,168,344 (GRCm39) |
D354E |
probably benign |
Het |
Rbp3 |
G |
A |
14: 33,676,732 (GRCm39) |
V227M |
probably benign |
Het |
Shcbp1 |
T |
C |
8: 4,794,545 (GRCm39) |
K416R |
probably damaging |
Het |
Slc20a2 |
T |
G |
8: 23,025,508 (GRCm39) |
I70S |
probably damaging |
Het |
Slc7a11 |
A |
G |
3: 50,326,809 (GRCm39) |
I484T |
probably benign |
Het |
Snrpa |
A |
G |
7: 26,892,371 (GRCm39) |
V63A |
possibly damaging |
Het |
Stat2 |
CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC |
CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC |
10: 128,126,597 (GRCm39) |
|
probably benign |
Het |
Strc |
T |
C |
2: 121,201,427 (GRCm39) |
E1259G |
probably benign |
Het |
Suds3 |
T |
G |
5: 117,253,802 (GRCm39) |
D26A |
unknown |
Het |
Tnrc18 |
A |
G |
5: 142,772,907 (GRCm39) |
S641P |
|
Het |
Tspan32 |
A |
G |
7: 142,570,959 (GRCm39) |
N189D |
probably benign |
Het |
Unc13b |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,312 (GRCm39) |
|
probably benign |
Het |
Usp40 |
G |
T |
1: 87,894,922 (GRCm39) |
T866K |
probably damaging |
Het |
Vmn1r220 |
G |
A |
13: 23,367,877 (GRCm39) |
T273I |
probably benign |
Het |
Yes1 |
C |
T |
5: 32,842,024 (GRCm39) |
T516I |
probably damaging |
Het |
Zbtb4 |
A |
G |
11: 69,669,368 (GRCm39) |
E697G |
probably benign |
Het |
Zfp994 |
T |
C |
17: 22,419,828 (GRCm39) |
T374A |
possibly damaging |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACAGAGGGCGCCTGTAATG -3'
(R):5'- CACTTCCAAGATGCAACTAATGTG -3'
Sequencing Primer
(F):5'- CCTGTAATGTGTGCTTGTTACAC -3'
(R):5'- CCAAGATGCAACTAATGTGTAAATC -3'
|
Posted On |
2019-11-26 |