Incidental Mutation 'R9167:Avpr1b'
| ID |
696109 |
| 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 |
068946-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R9167 (G1)
|
| Quality Score |
205.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131526977-131539738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131537151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 312
(S312P)
|
| 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: S312P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027690
Gene: ENSMUSG00000026432
AA Change: S312P
| 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 |
silent
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (44/44) |
| 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 |
|---|
| Aatk |
C |
A |
11: 119,901,952 (GRCm39) |
V815F |
possibly damaging |
Het |
| Abcb4 |
T |
A |
5: 8,986,849 (GRCm39) |
L756* |
probably null |
Het |
| Acrbp |
T |
C |
6: 125,039,942 (GRCm39) |
L515P |
probably damaging |
Het |
| Amot |
A |
T |
X: 144,244,745 (GRCm39) |
L435H |
|
Het |
| Atic |
T |
A |
1: 71,604,040 (GRCm39) |
I201N |
probably benign |
Het |
| Cables1 |
T |
C |
18: 12,039,029 (GRCm39) |
V314A |
possibly damaging |
Het |
| Cd22 |
G |
A |
7: 30,575,430 (GRCm39) |
T204I |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,828,920 (GRCm39) |
N95D |
|
Het |
| Ctla4 |
C |
T |
1: 60,951,695 (GRCm39) |
R75W |
probably damaging |
Het |
| Cul7 |
A |
G |
17: 46,966,623 (GRCm39) |
M649V |
probably benign |
Het |
| Ddx46 |
T |
A |
13: 55,802,915 (GRCm39) |
V479E |
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,657,370 (GRCm39) |
N802S |
probably benign |
Het |
| Fmn2 |
G |
T |
1: 174,331,056 (GRCm39) |
R482L |
unknown |
Het |
| Fyn |
T |
G |
10: 39,402,811 (GRCm39) |
D194E |
probably benign |
Het |
| Hdac4 |
G |
A |
1: 91,875,256 (GRCm39) |
T905M |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,411,900 (GRCm39) |
I4707V |
possibly damaging |
Het |
| Hmgcs2 |
T |
C |
3: 98,204,430 (GRCm39) |
I277T |
possibly damaging |
Het |
| Kcnj15 |
A |
G |
16: 95,096,741 (GRCm39) |
D121G |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,506,200 (GRCm39) |
E899G |
probably benign |
Het |
| Kif16b |
A |
T |
2: 142,542,840 (GRCm39) |
L152* |
probably null |
Het |
| Krt73 |
A |
G |
15: 101,702,405 (GRCm39) |
V486A |
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,347,658 (GRCm39) |
K3012N |
unknown |
Het |
| Musk |
A |
T |
4: 58,296,687 (GRCm39) |
I96F |
probably benign |
Het |
| Myrfl |
A |
G |
10: 116,667,450 (GRCm39) |
V330A |
probably damaging |
Het |
| Nanp |
A |
T |
2: 150,872,728 (GRCm39) |
C67S |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,039,951 (GRCm39) |
N758S |
probably benign |
Het |
| Nrxn3 |
T |
A |
12: 89,154,068 (GRCm39) |
V345D |
probably damaging |
Het |
| Nsun7 |
G |
A |
5: 66,435,994 (GRCm39) |
V289I |
possibly damaging |
Het |
| Or52d1 |
A |
G |
7: 103,756,426 (GRCm39) |
*313W |
probably null |
Het |
| Pde4a |
T |
C |
9: 21,102,798 (GRCm39) |
S161P |
probably benign |
Het |
| Pom121l2 |
C |
T |
13: 22,167,160 (GRCm39) |
A477V |
probably damaging |
Het |
| Rest |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
5: 77,429,651 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,664,398 (GRCm39) |
I1651N |
probably damaging |
Het |
| Serpinb6e |
A |
G |
13: 34,023,009 (GRCm39) |
F125L |
possibly damaging |
Het |
| Slc2a9 |
T |
A |
5: 38,549,092 (GRCm39) |
T341S |
probably damaging |
Het |
| Taf3 |
A |
G |
2: 9,945,804 (GRCm39) |
V600A |
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,624,724 (GRCm39) |
V1742A |
probably benign |
Het |
| Tlx2 |
T |
A |
6: 83,046,042 (GRCm39) |
K211* |
probably null |
Het |
| Tmem266 |
A |
G |
9: 55,322,231 (GRCm39) |
D174G |
probably damaging |
Het |
| Tpm3 |
T |
A |
3: 89,994,824 (GRCm39) |
I147N |
probably benign |
Het |
| Unc93a |
T |
C |
17: 13,335,108 (GRCm39) |
K313E |
possibly damaging |
Het |
| Vmn1r9 |
A |
C |
6: 57,048,138 (GRCm39) |
E71A |
probably benign |
Het |
| Vwa2 |
T |
A |
19: 56,899,063 (GRCm39) |
D754E |
probably benign |
Het |
| Zfp677 |
T |
C |
17: 21,613,460 (GRCm39) |
V18A |
probably 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 |
|
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 |
|
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'- TGGAGATTCAGCCTCTGTCC -3'
(R):5'- GTAGATGGACCACAGGTGTG -3'
Sequencing Primer
(F):5'- AGTTTGCACGACTAATGGGCC -3'
(R):5'- CACAGGTGTGGGTCAGCAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation