Incidental Mutation 'IGL02958:Agtr1b'
ID |
365202 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Agtr1b
|
Ensembl Gene |
ENSMUSG00000054988 |
Gene Name |
angiotensin II receptor, type 1b |
Synonyms |
AT1B, Angtr-1b, Agtr-1b |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02958
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
20368637-20421341 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 20370258 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 116
(V116E)
|
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: V116E
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000068298 Gene: ENSMUSG00000054988 AA Change: V116E
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: V116E
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128724 Gene: ENSMUSG00000054988 AA Change: V116E
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 |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
G |
T |
17: 45,829,098 (GRCm39) |
V755L |
probably benign |
Het |
Abhd15 |
T |
C |
11: 77,406,791 (GRCm39) |
V256A |
possibly damaging |
Het |
Ahi1 |
A |
T |
10: 20,839,698 (GRCm39) |
D203V |
probably damaging |
Het |
Aplp2 |
G |
T |
9: 31,075,972 (GRCm39) |
|
probably benign |
Het |
Arid4a |
T |
C |
12: 71,144,337 (GRCm39) |
S1249P |
probably benign |
Het |
Asz1 |
T |
A |
6: 18,073,813 (GRCm39) |
K298M |
possibly damaging |
Het |
C4bp |
A |
G |
1: 130,564,532 (GRCm39) |
I384T |
probably damaging |
Het |
Cacna1e |
C |
A |
1: 154,341,487 (GRCm39) |
A1236S |
probably damaging |
Het |
Cdh13 |
T |
C |
8: 120,039,460 (GRCm39) |
I634T |
possibly damaging |
Het |
Cemip |
A |
T |
7: 83,624,263 (GRCm39) |
F524L |
probably damaging |
Het |
Dnah7c |
G |
A |
1: 46,696,271 (GRCm39) |
R2051H |
probably damaging |
Het |
Dnajc17 |
T |
C |
2: 119,016,243 (GRCm39) |
K77E |
probably benign |
Het |
Efhc2 |
C |
T |
X: 17,027,485 (GRCm39) |
|
probably benign |
Het |
Ergic2 |
A |
T |
6: 148,083,441 (GRCm39) |
*50K |
probably null |
Het |
Fam83g |
C |
T |
11: 61,598,548 (GRCm39) |
P812S |
probably damaging |
Het |
Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
Itih3 |
T |
C |
14: 30,635,139 (GRCm39) |
T73A |
probably benign |
Het |
Kcnj1 |
A |
G |
9: 32,307,851 (GRCm39) |
S72G |
probably damaging |
Het |
Kcnn4 |
T |
C |
7: 24,074,170 (GRCm39) |
V78A |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,192,928 (GRCm39) |
D1353V |
probably damaging |
Het |
Lrrc2 |
T |
A |
9: 110,791,741 (GRCm39) |
|
probably null |
Het |
Mplkipl1 |
G |
T |
19: 61,164,118 (GRCm39) |
Q106K |
possibly damaging |
Het |
Ndufs8 |
T |
C |
19: 3,961,232 (GRCm39) |
E45G |
probably benign |
Het |
Nell1 |
G |
A |
7: 49,870,085 (GRCm39) |
|
probably null |
Het |
Nxt1 |
A |
G |
2: 148,517,692 (GRCm39) |
|
probably benign |
Het |
Or2y17 |
A |
G |
11: 49,232,127 (GRCm39) |
Y256C |
probably benign |
Het |
Or5al5 |
T |
A |
2: 85,961,351 (GRCm39) |
I219F |
probably benign |
Het |
Pdzd8 |
A |
T |
19: 59,288,804 (GRCm39) |
C865* |
probably null |
Het |
Pop1 |
G |
T |
15: 34,530,509 (GRCm39) |
C969F |
probably damaging |
Het |
Rc3h2 |
A |
C |
2: 37,304,712 (GRCm39) |
I16S |
probably damaging |
Het |
Shank1 |
T |
C |
7: 44,003,897 (GRCm39) |
V1863A |
possibly damaging |
Het |
Slc15a4 |
A |
T |
5: 127,681,729 (GRCm39) |
L296Q |
possibly damaging |
Het |
Spmip1 |
G |
A |
6: 29,471,625 (GRCm39) |
G34R |
probably damaging |
Het |
Ssr4 |
T |
C |
X: 72,830,856 (GRCm39) |
|
probably benign |
Het |
Supt20 |
T |
A |
3: 54,621,144 (GRCm39) |
|
probably benign |
Het |
Ttc8 |
A |
T |
12: 98,930,803 (GRCm39) |
K282N |
probably benign |
Het |
Usp40 |
A |
T |
1: 87,906,207 (GRCm39) |
V676E |
probably damaging |
Het |
Vmn1r43 |
T |
C |
6: 89,847,031 (GRCm39) |
I152V |
probably benign |
Het |
Vmn2r61 |
A |
T |
7: 41,949,361 (GRCm39) |
I594F |
probably benign |
Het |
Vps53 |
A |
C |
11: 76,008,537 (GRCm39) |
I261S |
probably damaging |
Het |
Wdr19 |
T |
A |
5: 65,370,150 (GRCm39) |
|
probably null |
Het |
Zc3hav1 |
T |
A |
6: 38,309,919 (GRCm39) |
D301V |
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 |
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 |
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 |
|
Posted On |
2015-12-18 |