Incidental Mutation 'R5728:Gpbar1'
| ID |
452584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpbar1
|
| Ensembl Gene |
ENSMUSG00000064272 |
| Gene Name |
G protein-coupled bile acid receptor 1 |
| Synonyms |
TGR5, GPR131, BG37, M-BAR |
| MMRRC Submission |
043345-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5728 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
74317709-74318783 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74318216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 153
(N153S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006462]
[ENSMUST00000077985]
[ENSMUST00000178235]
[ENSMUST00000187046]
[ENSMUST00000190008]
|
| AlphaFold |
Q80SS6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006462
|
| SMART Domains |
Protein: ENSMUSP00000006462
Gene: ENSMUSG00000006299
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
64 |
N/A |
INTRINSIC |
|
WD40
|
81 |
121 |
2.76e-2 |
SMART |
|
WD40
|
124 |
163 |
4.83e-7 |
SMART |
|
WD40
|
166 |
203 |
7.96e0 |
SMART |
|
WD40
|
205 |
244 |
2.51e-5 |
SMART |
|
WD40
|
247 |
289 |
2.38e-6 |
SMART |
|
WD40
|
292 |
346 |
2.47e1 |
SMART |
|
WD40
|
349 |
387 |
2.61e-3 |
SMART |
|
WD40
|
390 |
429 |
1.75e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077985
AA Change: N153S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077135
Gene: ENSMUSG00000064272
AA Change: N153S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
30 |
264 |
7.2e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178235
|
| SMART Domains |
Protein: ENSMUSP00000136644
Gene: ENSMUSG00000006299
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
65 |
N/A |
INTRINSIC |
|
WD40
|
82 |
122 |
2.76e-2 |
SMART |
|
WD40
|
125 |
164 |
4.83e-7 |
SMART |
|
WD40
|
167 |
204 |
7.96e0 |
SMART |
|
WD40
|
206 |
245 |
2.51e-5 |
SMART |
|
WD40
|
248 |
290 |
2.38e-6 |
SMART |
|
WD40
|
293 |
347 |
2.47e1 |
SMART |
|
WD40
|
350 |
388 |
2.61e-3 |
SMART |
|
WD40
|
391 |
430 |
1.75e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186833
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187046
|
| SMART Domains |
Protein: ENSMUSP00000139411
Gene: ENSMUSG00000006299
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
20 |
60 |
1.7e-4 |
SMART |
|
WD40
|
63 |
102 |
3e-9 |
SMART |
|
WD40
|
120 |
160 |
1.7e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187908
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190008
|
| SMART Domains |
Protein: ENSMUSP00000140427
Gene: ENSMUSG00000006299
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
58 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191258
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G protein-coupled receptor (GPCR) superfamily. This enzyme functions as a cell surface receptor for bile acids. Treatment of cells expressing this GPCR with bile acids induces the production of intracellular cAMP, activation of a MAP kinase signaling pathway, and internalization of the receptor. The receptor is implicated in the suppression of macrophage functions and regulation of energy homeostasis by bile acids. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in abnormal cholesterol, bile, and insulin homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930018P22Rik |
T |
A |
2: 103,953,213 (GRCm39) |
M13K |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,520,576 (GRCm39) |
V4493D |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,612,783 (GRCm39) |
|
probably null |
Het |
| B4galnt4 |
A |
G |
7: 140,650,488 (GRCm39) |
D785G |
probably benign |
Het |
| Chtop |
C |
T |
3: 90,407,399 (GRCm39) |
G187D |
probably damaging |
Het |
| Cnih1 |
A |
G |
14: 47,017,648 (GRCm39) |
F78S |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dcun1d4 |
T |
C |
5: 73,677,491 (GRCm39) |
F57L |
possibly damaging |
Het |
| Dgkz |
A |
G |
2: 91,776,132 (GRCm39) |
S44P |
possibly damaging |
Het |
| Dhps |
A |
G |
8: 85,799,964 (GRCm39) |
D138G |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,750,509 (GRCm39) |
E282G |
probably damaging |
Het |
| Exoc6b |
T |
C |
6: 84,837,173 (GRCm39) |
Y342C |
probably damaging |
Het |
| Fasn |
A |
C |
11: 120,704,339 (GRCm39) |
S1386A |
probably benign |
Het |
| Foxj3 |
A |
T |
4: 119,430,959 (GRCm39) |
N111Y |
probably damaging |
Het |
| Gm5431 |
T |
C |
11: 48,779,440 (GRCm39) |
E772G |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,270,077 (GRCm39) |
I2345T |
possibly damaging |
Het |
| Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
| Lce1f |
A |
G |
3: 92,626,652 (GRCm39) |
S2P |
unknown |
Het |
| Lrrk2 |
A |
G |
15: 91,659,177 (GRCm39) |
D1863G |
probably benign |
Het |
| Lurap1 |
T |
C |
4: 116,001,585 (GRCm39) |
E36G |
possibly damaging |
Het |
| Lysmd3 |
A |
G |
13: 81,817,380 (GRCm39) |
E119G |
probably damaging |
Het |
| Map9 |
G |
A |
3: 82,270,642 (GRCm39) |
V69I |
probably benign |
Het |
| Mfsd4b2 |
A |
C |
10: 39,799,791 (GRCm39) |
F37C |
possibly damaging |
Het |
| Moxd1 |
A |
T |
10: 24,099,581 (GRCm39) |
H27L |
possibly damaging |
Het |
| Myo15a |
A |
T |
11: 60,379,722 (GRCm39) |
K1476N |
probably damaging |
Het |
| Mzf1 |
A |
G |
7: 12,777,985 (GRCm39) |
I552T |
probably benign |
Het |
| Nfatc2 |
A |
G |
2: 168,322,169 (GRCm39) |
V910A |
probably benign |
Het |
| Or52n2 |
C |
T |
7: 104,542,436 (GRCm39) |
R133Q |
possibly damaging |
Het |
| Prss2 |
T |
C |
6: 41,500,851 (GRCm39) |
V88A |
probably benign |
Het |
| Rhbdf1 |
A |
G |
11: 32,159,901 (GRCm39) |
|
probably null |
Het |
| Slc10a4 |
A |
T |
5: 73,169,677 (GRCm39) |
Q434L |
probably damaging |
Het |
| Slc4a3 |
A |
G |
1: 75,526,484 (GRCm39) |
T2A |
probably benign |
Het |
| Sqor |
A |
G |
2: 122,651,320 (GRCm39) |
*194W |
probably null |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Tagap1 |
A |
G |
17: 7,224,420 (GRCm39) |
V92A |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,465,231 (GRCm39) |
Y320C |
probably damaging |
Het |
| Toporsl |
T |
C |
4: 52,611,469 (GRCm39) |
I454T |
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Ubap1l |
T |
C |
9: 65,276,570 (GRCm39) |
V24A |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,466,238 (GRCm39) |
S1810T |
probably benign |
Het |
| Vmn1r56 |
A |
T |
7: 5,199,122 (GRCm39) |
I165K |
probably benign |
Het |
| Wnt8b |
A |
G |
19: 44,499,757 (GRCm39) |
T169A |
possibly damaging |
Het |
| Wrap73 |
T |
C |
4: 154,239,099 (GRCm39) |
|
probably null |
Het |
| Wwc2 |
A |
G |
8: 48,317,096 (GRCm39) |
I703T |
unknown |
Het |
| Zfp354a |
T |
A |
11: 50,961,432 (GRCm39) |
C546S |
probably damaging |
Het |
|
| Other mutations in Gpbar1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0496:Gpbar1
|
UTSW |
1 |
74,318,140 (GRCm39) |
missense |
probably benign |
|
|
R0502:Gpbar1
|
UTSW |
1 |
74,318,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0944:Gpbar1
|
UTSW |
1 |
74,318,681 (GRCm39) |
missense |
probably benign |
|
|
R1993:Gpbar1
|
UTSW |
1 |
74,318,603 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1995:Gpbar1
|
UTSW |
1 |
74,318,603 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2216:Gpbar1
|
UTSW |
1 |
74,318,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2258:Gpbar1
|
UTSW |
1 |
74,318,164 (GRCm39) |
missense |
probably benign |
|
|
R4871:Gpbar1
|
UTSW |
1 |
74,318,702 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4973:Gpbar1
|
UTSW |
1 |
74,318,704 (GRCm39) |
unclassified |
probably benign |
|
|
R4974:Gpbar1
|
UTSW |
1 |
74,318,704 (GRCm39) |
unclassified |
probably benign |
|
|
R4975:Gpbar1
|
UTSW |
1 |
74,318,704 (GRCm39) |
unclassified |
probably benign |
|
|
R4979:Gpbar1
|
UTSW |
1 |
74,318,404 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5730:Gpbar1
|
UTSW |
1 |
74,318,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Gpbar1
|
UTSW |
1 |
74,317,792 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGGAGCCGGAACCATCAG -3'
(R):5'- TAGCCAGGGTTGAGGGTACATC -3'
Sequencing Primer
(F):5'- CGGAACCATCAGGGCTAC -3'
(R):5'- TACATCGCGGCACACTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation