Incidental Mutation 'R1070:Agtr1b'
| ID |
86153 |
| 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 |
039156-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1070 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
20368637-20421341 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20369912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 231
(N231K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068316]
[ENSMUST00000163776]
|
| AlphaFold |
P29755 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068316
AA Change: N231K
PolyPhen 2
Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000068298
Gene: ENSMUSG00000054988
AA Change: N231K
| 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 |
probably benign
Transcript: ENSMUST00000163776
AA Change: N231K
PolyPhen 2
Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128724
Gene: ENSMUSG00000054988
AA Change: N231K
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.7%
|
| Validation Efficiency |
95% (41/43) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,520,263 (GRCm39) |
D1367G |
probably damaging |
Het |
| Actr3b |
A |
G |
5: 26,053,491 (GRCm39) |
|
probably benign |
Het |
| Bach1 |
T |
C |
16: 87,517,009 (GRCm39) |
S517P |
probably benign |
Het |
| Blzf1 |
A |
G |
1: 164,131,499 (GRCm39) |
|
probably benign |
Het |
| Bptf |
G |
T |
11: 106,945,881 (GRCm39) |
Q2453K |
possibly damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Heatr4 |
T |
C |
12: 84,024,841 (GRCm39) |
T327A |
possibly damaging |
Het |
| Hes1 |
T |
C |
16: 29,886,101 (GRCm39) |
I235T |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,565,341 (GRCm39) |
D2262V |
probably damaging |
Het |
| Ifi208 |
C |
T |
1: 173,510,610 (GRCm39) |
A255V |
probably damaging |
Het |
| Inhbe |
T |
C |
10: 127,187,382 (GRCm39) |
I11M |
probably benign |
Het |
| Ipo9 |
T |
C |
1: 135,334,281 (GRCm39) |
E315G |
possibly damaging |
Het |
| Itih1 |
G |
T |
14: 30,664,413 (GRCm39) |
|
probably benign |
Het |
| Kcnk2 |
A |
G |
1: 188,988,960 (GRCm39) |
|
probably benign |
Het |
| Kdm4c |
T |
A |
4: 74,291,865 (GRCm39) |
Y827* |
probably null |
Het |
| Kif5a |
T |
C |
10: 127,081,275 (GRCm39) |
T220A |
probably benign |
Het |
| Krt78 |
A |
G |
15: 101,854,728 (GRCm39) |
Y1028H |
possibly damaging |
Het |
| Ldc1 |
T |
C |
4: 130,112,949 (GRCm39) |
E149G |
probably benign |
Het |
| Mylk4 |
T |
C |
13: 32,908,801 (GRCm39) |
D333G |
probably benign |
Het |
| Net1 |
A |
T |
13: 3,962,930 (GRCm39) |
S45T |
probably benign |
Het |
| Npat |
T |
A |
9: 53,483,892 (GRCm39) |
F1403I |
probably damaging |
Het |
| Or5h25 |
A |
G |
16: 58,930,182 (GRCm39) |
S264P |
probably benign |
Het |
| Or5p57 |
T |
C |
7: 107,665,858 (GRCm39) |
D49G |
probably benign |
Het |
| Or7a35 |
C |
T |
10: 78,853,684 (GRCm39) |
P176L |
probably damaging |
Het |
| Pcif1 |
T |
C |
2: 164,731,058 (GRCm39) |
Y404H |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,390,052 (GRCm39) |
|
probably null |
Het |
| Rab3a |
A |
G |
8: 71,209,840 (GRCm39) |
N40S |
probably damaging |
Het |
| Raf1 |
T |
C |
6: 115,614,660 (GRCm39) |
N74D |
probably benign |
Het |
| Rap1gap2 |
A |
G |
11: 74,327,853 (GRCm39) |
V139A |
possibly damaging |
Het |
| Rdh12 |
T |
C |
12: 79,260,522 (GRCm39) |
L206P |
probably damaging |
Het |
| Rimoc1 |
C |
A |
15: 4,015,848 (GRCm39) |
V239F |
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,698,547 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Strip1 |
T |
C |
3: 107,534,724 (GRCm39) |
E102G |
possibly damaging |
Het |
| Sult2a8 |
T |
A |
7: 14,147,698 (GRCm39) |
I198F |
probably damaging |
Het |
| Tars3 |
T |
C |
7: 65,305,444 (GRCm39) |
S223P |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vcam1 |
C |
T |
3: 115,904,552 (GRCm39) |
V732M |
possibly damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,652,681 (GRCm39) |
Y458H |
probably 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 |
|
R0661:Agtr1b
|
UTSW |
3 |
20,370,163 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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'- CCACTACGTCCGCAATTTCACAGTC -3'
(R):5'- CAATGCTGGTCGCCAAAGTCAC -3'
Sequencing Primer
(F):5'- TTCACAGTCATGGATGACGC -3'
(R):5'- ATCATCATCTGGCTGATGGC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation