Incidental Mutation 'R0661:Agtr1b'
| ID |
61830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agtr1b
|
| Ensembl Gene |
ENSMUSG00000054988 |
| Gene Name |
angiotensin II receptor, type 1b |
| Synonyms |
AT1B, Angtr-1b, Agtr-1b |
| MMRRC Submission |
038846-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0661 (G1)
|
| Quality Score |
115 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
20368637-20421341 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20370163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 148
(T148S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068316]
[ENSMUST00000163776]
|
| AlphaFold |
P29755 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068316
AA Change: T148S
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000068298
Gene: ENSMUSG00000054988
AA Change: T148S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
39 |
310 |
5.4e-10 |
PFAM |
|
Pfam:7tm_1
|
45 |
302 |
3e-52 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163776
AA Change: T148S
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128724
Gene: ENSMUSG00000054988
AA Change: T148S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
39 |
310 |
5.4e-10 |
PFAM |
|
Pfam:7tm_1
|
45 |
302 |
1.1e-65 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations are phenotypically normal, but homozygotes for the Agtr1b/Agtr1a double knockout exhibit reductions in growth, survival, blood pressure, and kidney size not found in either single knockout. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks3 |
A |
G |
16: 4,766,198 (GRCm39) |
F124L |
probably damaging |
Het |
| Ar |
T |
A |
X: 97,194,171 (GRCm39) |
Y262N |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,242,644 (GRCm39) |
S1065T |
possibly damaging |
Het |
| Brip1 |
A |
T |
11: 86,001,189 (GRCm39) |
I749N |
possibly damaging |
Het |
| C1ra |
T |
A |
6: 124,499,336 (GRCm39) |
H507Q |
probably benign |
Het |
| Cdk9 |
G |
A |
2: 32,599,832 (GRCm39) |
T135I |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,840,215 (GRCm39) |
T1088A |
unknown |
Het |
| Cpne2 |
T |
C |
8: 95,282,667 (GRCm39) |
I283T |
possibly damaging |
Het |
| Dcaf17 |
T |
C |
2: 70,918,779 (GRCm39) |
L451P |
probably damaging |
Het |
| Dhx57 |
C |
T |
17: 80,576,293 (GRCm39) |
C599Y |
probably damaging |
Het |
| Drd1 |
T |
A |
13: 54,207,057 (GRCm39) |
N379Y |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,816,513 (GRCm39) |
D4082G |
possibly damaging |
Het |
| Grin2a |
G |
T |
16: 9,810,336 (GRCm39) |
P21Q |
probably damaging |
Het |
| Heyl |
G |
T |
4: 123,139,824 (GRCm39) |
V128F |
probably damaging |
Het |
| Hoxd12 |
A |
G |
2: 74,506,236 (GRCm39) |
E216G |
probably damaging |
Het |
| Inpp4b |
C |
A |
8: 82,468,091 (GRCm39) |
A18E |
possibly damaging |
Het |
| Invs |
G |
A |
4: 48,421,861 (GRCm39) |
R831H |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,671,219 (GRCm39) |
V2000A |
probably damaging |
Het |
| Msh3 |
T |
C |
13: 92,481,604 (GRCm39) |
N303D |
possibly damaging |
Het |
| Or11g27 |
A |
G |
14: 50,771,552 (GRCm39) |
T228A |
probably benign |
Het |
| Or5an9 |
T |
C |
19: 12,187,068 (GRCm39) |
L46P |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Pcdh18 |
A |
C |
3: 49,707,767 (GRCm39) |
S902R |
possibly damaging |
Het |
| Prdm15 |
A |
T |
16: 97,630,882 (GRCm39) |
V190E |
probably benign |
Het |
| Ranbp2 |
T |
G |
10: 58,314,555 (GRCm39) |
S1758R |
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,863,774 (GRCm39) |
V738A |
probably benign |
Het |
| Rtl5 |
T |
C |
X: 101,114,056 (GRCm39) |
H138R |
possibly damaging |
Het |
| Sec11a |
A |
G |
7: 80,584,787 (GRCm39) |
V50A |
probably damaging |
Het |
| Shroom1 |
T |
C |
11: 53,357,764 (GRCm39) |
S772P |
possibly damaging |
Het |
| Slc26a6 |
T |
C |
9: 108,736,312 (GRCm39) |
|
probably null |
Het |
| Slf1 |
A |
G |
13: 77,231,715 (GRCm39) |
W555R |
probably benign |
Het |
| Spx |
A |
G |
6: 142,359,565 (GRCm39) |
S5G |
possibly damaging |
Het |
| Tcp1 |
T |
C |
17: 13,142,200 (GRCm39) |
V398A |
probably benign |
Het |
| Tm6sf1 |
G |
A |
7: 81,515,093 (GRCm39) |
|
probably null |
Het |
| Tsbp1 |
A |
T |
17: 34,678,887 (GRCm39) |
I217F |
possibly damaging |
Het |
| Ufsp2 |
T |
A |
8: 46,432,270 (GRCm39) |
M1K |
probably null |
Het |
| Usf1 |
G |
A |
1: 171,245,067 (GRCm39) |
R196Q |
probably damaging |
Het |
| Vmn2r75 |
G |
A |
7: 85,814,866 (GRCm39) |
A209V |
probably benign |
Het |
| Yme1l1 |
T |
A |
2: 23,081,054 (GRCm39) |
M442K |
probably damaging |
Het |
| Zfand3 |
A |
G |
17: 30,354,372 (GRCm39) |
E63G |
probably damaging |
Het |
| Zfp740 |
A |
G |
15: 102,121,094 (GRCm39) |
T136A |
possibly damaging |
Het |
|
| Other mutations in Agtr1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01558:Agtr1b
|
APN |
3 |
20,370,424 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02706:Agtr1b
|
APN |
3 |
20,370,027 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02958:Agtr1b
|
APN |
3 |
20,370,258 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03243:Agtr1b
|
APN |
3 |
20,369,959 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0125:Agtr1b
|
UTSW |
3 |
20,369,704 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0565:Agtr1b
|
UTSW |
3 |
20,369,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1070:Agtr1b
|
UTSW |
3 |
20,369,912 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1469:Agtr1b
|
UTSW |
3 |
20,369,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Agtr1b
|
UTSW |
3 |
20,369,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1713:Agtr1b
|
UTSW |
3 |
20,370,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4502:Agtr1b
|
UTSW |
3 |
20,369,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5613:Agtr1b
|
UTSW |
3 |
20,370,424 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6142:Agtr1b
|
UTSW |
3 |
20,370,558 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6320:Agtr1b
|
UTSW |
3 |
20,369,943 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6667:Agtr1b
|
UTSW |
3 |
20,369,913 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6987:Agtr1b
|
UTSW |
3 |
20,370,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7407:Agtr1b
|
UTSW |
3 |
20,369,895 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7598:Agtr1b
|
UTSW |
3 |
20,370,077 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8701:Agtr1b
|
UTSW |
3 |
20,370,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8791:Agtr1b
|
UTSW |
3 |
20,370,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9005:Agtr1b
|
UTSW |
3 |
20,370,343 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
X0037:Agtr1b
|
UTSW |
3 |
20,370,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0060:Agtr1b
|
UTSW |
3 |
20,370,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Agtr1b
|
UTSW |
3 |
20,370,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Agtr1b
|
UTSW |
3 |
20,369,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACAGTCATGGATGACGCCCAG -3'
(R):5'- ACCTATGTAAGATCGCTTCGGCCAG -3'
Sequencing Primer
(F):5'- GGGCTTTCCAAATCAGAGTATAGC -3'
(R):5'- GCCAGCGTCAGTTTCAAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation