Incidental Mutation 'R0654:Avpr1b'
| ID |
62416 |
| 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 |
038839-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R0654 (G1)
|
| Quality Score |
137 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
131526977-131539738 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 131527480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027690]
[ENSMUST00000190410]
|
| AlphaFold |
Q9WU02 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027690
AA Change: M1K
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027690
Gene: ENSMUSG00000026432
AA Change: M1K
| 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 null
Transcript: ENSMUST00000190410
AA Change: M1K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140527
Gene: ENSMUSG00000026432
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
51 |
121 |
8.5e-6 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb13 |
A |
C |
13: 3,692,092 (GRCm39) |
H24P |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,958,182 (GRCm39) |
E1023G |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,820 (GRCm39) |
T204A |
probably benign |
Het |
| Cfap157 |
C |
T |
2: 32,669,954 (GRCm39) |
V210M |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,374,976 (GRCm39) |
V731A |
possibly damaging |
Het |
| Cntn6 |
C |
T |
6: 104,753,389 (GRCm39) |
T447I |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,421,556 (GRCm39) |
I288T |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,076,639 (GRCm39) |
F494S |
possibly damaging |
Het |
| Fibin |
T |
A |
2: 110,192,962 (GRCm39) |
D60V |
probably damaging |
Het |
| Fnd3c2 |
G |
A |
X: 105,290,760 (GRCm39) |
T302I |
possibly damaging |
Het |
| Foxp3 |
A |
G |
X: 7,457,639 (GRCm39) |
I281V |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,240,715 (GRCm39) |
I1295T |
probably benign |
Het |
| Gpr82 |
T |
C |
X: 13,531,829 (GRCm39) |
S126P |
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,464,372 (GRCm39) |
Q530L |
probably benign |
Het |
| Hivep1 |
A |
C |
13: 42,313,232 (GRCm39) |
D1824A |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,966,218 (GRCm39) |
V400A |
possibly damaging |
Het |
| Map3k21 |
C |
A |
8: 126,668,759 (GRCm39) |
L782I |
probably benign |
Het |
| Nphs2 |
A |
C |
1: 156,146,317 (GRCm39) |
T98P |
probably damaging |
Het |
| Pdss2 |
CGGAG |
CG |
10: 43,097,927 (GRCm39) |
|
probably benign |
Het |
| Pkd2l1 |
A |
G |
19: 44,146,070 (GRCm39) |
|
probably null |
Het |
| Rbm28 |
A |
T |
6: 29,128,577 (GRCm39) |
S48R |
probably damaging |
Het |
| Rimkla |
C |
T |
4: 119,335,177 (GRCm39) |
V69M |
probably damaging |
Het |
| Scg3 |
T |
A |
9: 75,573,017 (GRCm39) |
I305F |
probably damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,881,679 (GRCm39) |
N310I |
probably damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,692,768 (GRCm39) |
V700A |
probably benign |
Het |
| Snx15 |
T |
C |
19: 6,171,915 (GRCm39) |
I140V |
probably benign |
Het |
| Spryd3 |
C |
T |
15: 102,036,969 (GRCm39) |
|
probably null |
Het |
| Srebf1 |
T |
C |
11: 60,094,942 (GRCm39) |
T486A |
probably benign |
Het |
| Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
| Tbl1xr1 |
T |
A |
3: 22,258,158 (GRCm39) |
|
probably null |
Het |
| Tmcc1 |
A |
T |
6: 116,019,951 (GRCm39) |
H281Q |
probably benign |
Het |
| Ttc39b |
T |
A |
4: 83,159,938 (GRCm39) |
M413L |
probably benign |
Het |
| Vmn2r101 |
C |
A |
17: 19,810,373 (GRCm39) |
H386Q |
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,592,327 (GRCm39) |
F251L |
probably benign |
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 |
|
R0058:Avpr1b
|
UTSW |
1 |
131,527,524 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTCGGTGTCACCTCTCAGAAG -3'
(R):5'- TCAGTAGTACAGCCAGGTTGCCTC -3'
Sequencing Primer
(F):5'- GGTCCCGGTTCTGCTCC -3'
(R):5'- CCAGGTTGCCTCCTGTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation