Incidental Mutation 'R0058:Avpr1b'
| ID |
17336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Avpr1b
|
| Ensembl Gene |
ENSMUSG00000026432 |
| Gene Name |
arginine vasopressin receptor 1B |
| Synonyms |
VPR3, AVPR3, V3/V1b pituitary vasopressin receptor, V3/V1b, V1BR, V1bR |
| MMRRC Submission |
038352-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R0058 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131526977-131539738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131527524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 16
(T16A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027690]
[ENSMUST00000190410]
|
| AlphaFold |
Q9WU02 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027690
AA Change: T16A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000027690
Gene: ENSMUSG00000026432
AA Change: T16A
| 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
AA Change: T16A
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000140527
Gene: ENSMUSG00000026432
AA Change: T16A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
51 |
121 |
8.5e-6 |
PFAM |
|
| Meta Mutation Damage Score |
0.0715 |
| Coding Region Coverage |
- 1x: 87.4%
- 3x: 82.9%
- 10x: 66.9%
- 20x: 41.4%
|
| Validation Efficiency |
85% (62/73) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,330,791 (GRCm39) |
V6088A |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,580,691 (GRCm39) |
|
probably benign |
Het |
| Anxa1 |
A |
T |
19: 20,361,141 (GRCm39) |
Y84N |
probably damaging |
Het |
| Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
| Cables1 |
A |
G |
18: 12,056,470 (GRCm39) |
E316G |
possibly damaging |
Het |
| Cadm1 |
A |
T |
9: 47,761,629 (GRCm39) |
I427L |
probably damaging |
Het |
| Dazap1 |
T |
C |
10: 80,097,415 (GRCm39) |
|
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,113,121 (GRCm39) |
E1512G |
probably benign |
Het |
| Dock1 |
G |
A |
7: 134,710,490 (GRCm39) |
V1171M |
possibly damaging |
Het |
| Dock5 |
A |
T |
14: 68,018,485 (GRCm39) |
F1230Y |
probably benign |
Het |
| Dst |
T |
C |
1: 34,045,305 (GRCm39) |
S13P |
possibly damaging |
Het |
| Dym |
G |
A |
18: 75,176,243 (GRCm39) |
E15K |
possibly damaging |
Het |
| Faf1 |
A |
G |
4: 109,593,821 (GRCm39) |
Q133R |
probably benign |
Het |
| Fcer2a |
T |
C |
8: 3,738,111 (GRCm39) |
|
probably benign |
Het |
| Fmo2 |
A |
T |
1: 162,713,893 (GRCm39) |
S204R |
probably benign |
Het |
| Ghitm |
A |
G |
14: 36,853,549 (GRCm39) |
L97P |
probably damaging |
Het |
| Gins4 |
A |
G |
8: 23,719,526 (GRCm39) |
|
probably benign |
Het |
| Gm10573 |
G |
A |
4: 121,754,005 (GRCm39) |
|
|
Het |
| Golga3 |
T |
A |
5: 110,350,643 (GRCm39) |
F766Y |
possibly damaging |
Het |
| Hapln1 |
T |
C |
13: 89,755,997 (GRCm39) |
I267T |
probably benign |
Het |
| Helz |
A |
T |
11: 107,563,384 (GRCm39) |
|
probably benign |
Het |
| Igll1 |
A |
T |
16: 16,681,740 (GRCm39) |
V5E |
probably benign |
Het |
| Kif16b |
A |
G |
2: 142,699,225 (GRCm39) |
|
probably null |
Het |
| Limk1 |
A |
T |
5: 134,688,725 (GRCm39) |
W507R |
probably damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Mtif3 |
C |
A |
5: 146,893,731 (GRCm39) |
V159F |
probably benign |
Het |
| Ncoa7 |
T |
A |
10: 30,523,537 (GRCm39) |
D887V |
probably damaging |
Het |
| Pkd1 |
G |
C |
17: 24,783,677 (GRCm39) |
A162P |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,513,628 (GRCm39) |
D309G |
possibly damaging |
Het |
| Plk4 |
T |
C |
3: 40,760,307 (GRCm39) |
V401A |
probably benign |
Het |
| Prrc2c |
C |
T |
1: 162,526,453 (GRCm39) |
V253I |
unknown |
Het |
| Ranbp2 |
T |
A |
10: 58,316,353 (GRCm39) |
S2358T |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,423,494 (GRCm39) |
V2183E |
probably damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,432,953 (GRCm39) |
S232C |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,904,012 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,574,909 (GRCm39) |
I531T |
probably benign |
Het |
| Slc36a1 |
C |
T |
11: 55,112,820 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,883,708 (GRCm39) |
|
probably null |
Het |
| Tex15 |
C |
T |
8: 34,071,530 (GRCm39) |
|
probably benign |
Het |
| Tlr9 |
T |
G |
9: 106,102,164 (GRCm39) |
L485R |
possibly damaging |
Het |
| Tmem207 |
A |
G |
16: 26,343,579 (GRCm39) |
|
probably benign |
Het |
| Triml2 |
T |
C |
8: 43,638,306 (GRCm39) |
|
probably benign |
Het |
| Tspear |
T |
C |
10: 77,705,465 (GRCm39) |
F288L |
probably benign |
Het |
| Zfp644 |
A |
T |
5: 106,784,869 (GRCm39) |
S559R |
possibly damaging |
Het |
|
| Other mutations in Avpr1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01615:Avpr1b
|
APN |
1 |
131,527,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2013-01-20 |
Incidental Mutation