Incidental Mutation 'IGL03243:Agtr1b'
ID |
414303 |
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 # |
IGL03243
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
20368637-20421341 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20369959 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 216
(T216A)
|
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: T216A
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000068298 Gene: ENSMUSG00000054988 AA Change: T216A
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: T216A
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000128724 Gene: ENSMUSG00000054988 AA Change: T216A
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
T |
C |
8: 44,021,733 (GRCm39) |
T586A |
probably benign |
Het |
Ankdd1a |
T |
C |
9: 65,408,752 (GRCm39) |
R505G |
probably benign |
Het |
Anxa3 |
A |
T |
5: 96,976,551 (GRCm39) |
|
probably benign |
Het |
Atp6v1c2 |
C |
T |
12: 17,339,122 (GRCm39) |
V210I |
probably benign |
Het |
BC034090 |
G |
A |
1: 155,101,401 (GRCm39) |
P288S |
possibly damaging |
Het |
Catsper2 |
T |
C |
2: 121,237,300 (GRCm39) |
H200R |
probably benign |
Het |
Ceacam23 |
A |
T |
7: 17,652,574 (GRCm39) |
|
noncoding transcript |
Het |
Cntnap5c |
G |
T |
17: 58,409,171 (GRCm39) |
A470S |
probably benign |
Het |
Fcho2 |
G |
A |
13: 98,913,892 (GRCm39) |
|
probably benign |
Het |
Frem1 |
A |
C |
4: 82,932,206 (GRCm39) |
L165R |
probably damaging |
Het |
Gpn1 |
G |
A |
5: 31,668,175 (GRCm39) |
|
probably null |
Het |
Gpr179 |
T |
C |
11: 97,242,301 (GRCm39) |
N181S |
probably benign |
Het |
Heatr5b |
A |
T |
17: 79,070,509 (GRCm39) |
|
probably benign |
Het |
Kat6a |
A |
G |
8: 23,400,238 (GRCm39) |
N333S |
possibly damaging |
Het |
Lrp5 |
T |
C |
19: 3,680,159 (GRCm39) |
T442A |
probably benign |
Het |
Myo15a |
G |
T |
11: 60,387,344 (GRCm39) |
L722F |
probably damaging |
Het |
Nlrp9c |
T |
G |
7: 26,064,457 (GRCm39) |
D957A |
probably damaging |
Het |
Nup58 |
T |
A |
14: 60,459,065 (GRCm39) |
T521S |
probably benign |
Het |
Or7e165 |
T |
G |
9: 19,694,564 (GRCm39) |
I45S |
probably damaging |
Het |
Plek |
C |
A |
11: 16,945,319 (GRCm39) |
V4L |
possibly damaging |
Het |
Sell |
T |
A |
1: 163,892,911 (GRCm39) |
H42Q |
possibly damaging |
Het |
Slfn8 |
A |
T |
11: 82,894,533 (GRCm39) |
I702K |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,133,387 (GRCm39) |
I573V |
probably benign |
Het |
Tgm1 |
T |
A |
14: 55,943,364 (GRCm39) |
I526F |
probably damaging |
Het |
Tmem30c |
A |
T |
16: 57,096,513 (GRCm39) |
S203T |
probably benign |
Het |
Tox |
T |
C |
4: 6,697,597 (GRCm39) |
N402S |
possibly damaging |
Het |
Trav7d-4 |
C |
A |
14: 53,007,555 (GRCm39) |
|
probably benign |
Het |
Unc13d |
A |
T |
11: 115,958,670 (GRCm39) |
V784D |
probably benign |
Het |
Vmn2r68 |
A |
G |
7: 84,882,963 (GRCm39) |
V263A |
possibly damaging |
Het |
Zfp385c |
A |
T |
11: 100,525,573 (GRCm39) |
V56D |
probably damaging |
Het |
Znrf2 |
A |
T |
6: 54,861,754 (GRCm39) |
I222L |
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 |
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 |
2016-08-02 |