Incidental Mutation 'IGL01615:Avpr1b'
ID |
92366 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Avpr1b
|
Ensembl Gene |
ENSMUSG00000026432 |
Gene Name |
arginine vasopressin receptor 1B |
Synonyms |
VPR3, AVPR3, V3/V1b pituitary vasopressin receptor, V3/V1b, V1BR, V1bR |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
IGL01615
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
131526977-131539738 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 131527885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 136
(V136G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027690]
[ENSMUST00000190410]
|
AlphaFold |
Q9WU02 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027690
AA Change: V136G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027690 Gene: ENSMUSG00000026432 AA Change: V136G
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
41 |
223 |
1.1e-6 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
45 |
342 |
4.4e-7 |
PFAM |
Pfam:7tm_1
|
51 |
335 |
1.6e-50 |
PFAM |
Pfam:7TM_GPCR_Srv
|
106 |
352 |
8.2e-7 |
PFAM |
DUF1856
|
359 |
411 |
1.6e-21 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190410
|
SMART Domains |
Protein: ENSMUSP00000140527 Gene: ENSMUSG00000026432
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
51 |
121 |
8.5e-6 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor is primarily located in the anterior pituitary, where it stimulates ACTH release. It is expressed at high levels in ACTH-secreting pituitary adenomas as well as in bronchial carcinoids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this gene has been reported but its function is not known. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice for one allele display dysregulation of the hypothalamic-pituitary-adrenal axis activity under stress and resting conditions. Homozygous null mice for other alleles display decreased aggression or an increased propensity for seizures. [provided by MGI curators]
|
Allele List at MGI |
All alleles(5) : Targeted, knock-out(4) Targeted, other(1) |
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp2 |
T |
C |
18: 80,171,692 (GRCm39) |
T906A |
probably damaging |
Het |
Akap13 |
A |
G |
7: 75,347,141 (GRCm39) |
S1731G |
probably damaging |
Het |
Apbb2 |
A |
G |
5: 66,465,044 (GRCm39) |
V650A |
probably benign |
Het |
Appl1 |
A |
G |
14: 26,681,427 (GRCm39) |
|
probably benign |
Het |
C6 |
T |
C |
15: 4,811,378 (GRCm39) |
F409L |
probably benign |
Het |
Ccdc121rt3 |
A |
G |
5: 112,503,696 (GRCm39) |
S3P |
possibly damaging |
Het |
Cdk20 |
A |
G |
13: 64,584,124 (GRCm39) |
|
probably benign |
Het |
Cenpf |
T |
C |
1: 189,385,381 (GRCm39) |
K2300E |
possibly damaging |
Het |
Cfap57 |
C |
T |
4: 118,457,993 (GRCm39) |
R399Q |
probably damaging |
Het |
Cimap3 |
G |
T |
3: 105,904,523 (GRCm39) |
|
probably null |
Het |
Cnnm1 |
A |
T |
19: 43,460,375 (GRCm39) |
S706C |
probably benign |
Het |
Cr1l |
T |
C |
1: 194,812,189 (GRCm39) |
I45V |
possibly damaging |
Het |
D130043K22Rik |
A |
T |
13: 25,083,779 (GRCm39) |
R1081S |
probably damaging |
Het |
Ddx60 |
A |
T |
8: 62,416,774 (GRCm39) |
H573L |
probably null |
Het |
Eif5b |
T |
C |
1: 38,084,787 (GRCm39) |
L878S |
probably damaging |
Het |
Ets1 |
T |
C |
9: 32,644,235 (GRCm39) |
|
probably benign |
Het |
Evi5 |
A |
G |
5: 107,912,573 (GRCm39) |
L696P |
probably damaging |
Het |
Fbh1 |
C |
A |
2: 11,762,334 (GRCm39) |
E12* |
probably null |
Het |
Gabpb1 |
C |
A |
2: 126,495,520 (GRCm39) |
M77I |
possibly damaging |
Het |
Glul |
T |
A |
1: 153,782,222 (GRCm39) |
N152K |
probably benign |
Het |
Gm45234 |
T |
C |
6: 124,723,394 (GRCm39) |
Y613C |
probably damaging |
Het |
Gm5611 |
A |
G |
9: 16,941,647 (GRCm39) |
|
noncoding transcript |
Het |
Gpr156 |
T |
A |
16: 37,808,953 (GRCm39) |
I225K |
probably damaging |
Het |
Herc4 |
T |
C |
10: 63,126,461 (GRCm39) |
|
probably benign |
Het |
Iqsec3 |
C |
T |
6: 121,387,580 (GRCm39) |
V720M |
probably damaging |
Het |
Itgam |
A |
T |
7: 127,715,939 (GRCm39) |
H1104L |
possibly damaging |
Het |
Itgb3 |
T |
A |
11: 104,534,791 (GRCm39) |
D549E |
probably damaging |
Het |
Kctd7 |
A |
T |
5: 130,176,976 (GRCm39) |
M76L |
probably damaging |
Het |
Kdm3b |
T |
G |
18: 34,962,284 (GRCm39) |
N1523K |
probably damaging |
Het |
Map3k12 |
T |
A |
15: 102,412,186 (GRCm39) |
E318D |
probably damaging |
Het |
Mc1r |
T |
C |
8: 124,134,789 (GRCm39) |
Y181H |
probably damaging |
Het |
Mex3c |
G |
A |
18: 73,706,703 (GRCm39) |
A197T |
unknown |
Het |
Mvk |
A |
G |
5: 114,584,353 (GRCm39) |
D71G |
probably benign |
Het |
Ndufb3 |
T |
A |
1: 58,634,912 (GRCm39) |
L88* |
probably null |
Het |
Or56a4 |
A |
G |
7: 104,806,667 (GRCm39) |
V74A |
probably benign |
Het |
Or5p55 |
A |
G |
7: 107,567,144 (GRCm39) |
D180G |
probably damaging |
Het |
Pramel17 |
T |
A |
4: 101,694,201 (GRCm39) |
R227S |
possibly damaging |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Slc5a3 |
C |
T |
16: 91,876,000 (GRCm39) |
Q686* |
probably null |
Het |
Vmn2r75 |
T |
C |
7: 85,797,681 (GRCm39) |
I711V |
probably benign |
Het |
Vps13c |
T |
A |
9: 67,863,063 (GRCm39) |
H3026Q |
probably benign |
Het |
Zfp354c |
A |
G |
11: 50,708,732 (GRCm39) |
S22P |
possibly damaging |
Het |
|
Other mutations in Avpr1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02516:Avpr1b
|
APN |
1 |
131,528,367 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02708:Avpr1b
|
APN |
1 |
131,528,389 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03122:Avpr1b
|
APN |
1 |
131,528,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R0058:Avpr1b
|
UTSW |
1 |
131,527,524 (GRCm39) |
missense |
probably benign |
0.04 |
R0058:Avpr1b
|
UTSW |
1 |
131,527,524 (GRCm39) |
missense |
probably benign |
0.04 |
R0654:Avpr1b
|
UTSW |
1 |
131,527,480 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
R0690:Avpr1b
|
UTSW |
1 |
131,528,019 (GRCm39) |
missense |
probably damaging |
0.99 |
R1470:Avpr1b
|
UTSW |
1 |
131,528,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R1470:Avpr1b
|
UTSW |
1 |
131,528,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R1704:Avpr1b
|
UTSW |
1 |
131,537,242 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1732:Avpr1b
|
UTSW |
1 |
131,527,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R1754:Avpr1b
|
UTSW |
1 |
131,527,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R6103:Avpr1b
|
UTSW |
1 |
131,537,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R7246:Avpr1b
|
UTSW |
1 |
131,528,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R7283:Avpr1b
|
UTSW |
1 |
131,537,469 (GRCm39) |
missense |
probably benign |
0.26 |
R8253:Avpr1b
|
UTSW |
1 |
131,537,154 (GRCm39) |
missense |
probably benign |
0.41 |
R8750:Avpr1b
|
UTSW |
1 |
131,527,674 (GRCm39) |
missense |
probably damaging |
0.99 |
R9167:Avpr1b
|
UTSW |
1 |
131,537,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R9439:Avpr1b
|
UTSW |
1 |
131,528,029 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Avpr1b
|
UTSW |
1 |
131,537,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-09 |