Incidental Mutation 'IGL01947:Avpr1a'
ID |
181271 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Avpr1a
|
Ensembl Gene |
ENSMUSG00000020123 |
Gene Name |
arginine vasopressin receptor 1A |
Synonyms |
V1aR |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
IGL01947
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
122284404-122289357 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 122288087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 365
(V365A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020323]
|
AlphaFold |
Q62463 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020323
AA Change: V365A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000020323 Gene: ENSMUSG00000020123 AA Change: V365A
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
58 |
206 |
8.8e-10 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
62 |
362 |
6.1e-10 |
PFAM |
Pfam:7tm_1
|
68 |
353 |
4.5e-49 |
PFAM |
Pfam:7TM_GPCR_Srv
|
98 |
370 |
1.5e-10 |
PFAM |
DUF1856
|
377 |
423 |
2e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218285
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219628
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a receptor for arginine vasopressin, a neurohypophyseal hormone involved in diuresis inhibition, smooth muscle contraction, liver glycogenolysis stimulation and regulation of adrenocorticotropic hormone release from the pituitary. This receptor represents one of three G protein-coupled arginine vasopressin receptors which functions through a phosphotidylinositol-calcium second messenger system in vascular and hepatic tissues [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene display a stimulus processing deficit similar to that seen in schizophrenia. Anxiety-like behaviors are reduced in males but not females. B cell development is also affected. [provided by MGI curators]
|
Allele List at MGI |
All alleles(3) : Targeted, knock-out(2) Targeted, other(1) |
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
T |
C |
3: 151,216,428 (GRCm39) |
|
probably null |
Het |
Aloxe3 |
T |
A |
11: 69,033,847 (GRCm39) |
|
probably benign |
Het |
Atic |
C |
T |
1: 71,609,996 (GRCm39) |
|
probably benign |
Het |
Brd7 |
A |
G |
8: 89,059,503 (GRCm39) |
|
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,845,579 (GRCm39) |
N332D |
probably damaging |
Het |
Cdh20 |
C |
T |
1: 104,921,649 (GRCm39) |
P649S |
possibly damaging |
Het |
Cgnl1 |
T |
C |
9: 71,632,326 (GRCm39) |
T342A |
probably damaging |
Het |
Chst10 |
A |
G |
1: 38,904,646 (GRCm39) |
L349P |
probably damaging |
Het |
Cox6b2 |
T |
A |
7: 4,754,929 (GRCm39) |
K77* |
probably null |
Het |
Crnkl1 |
G |
A |
2: 145,763,744 (GRCm39) |
A498V |
probably benign |
Het |
Cux1 |
A |
G |
5: 136,303,979 (GRCm39) |
L1394P |
probably benign |
Het |
Dapp1 |
T |
C |
3: 137,641,404 (GRCm39) |
Y197C |
probably damaging |
Het |
Dcc |
A |
G |
18: 71,959,280 (GRCm39) |
I164T |
probably benign |
Het |
Disp3 |
T |
A |
4: 148,344,976 (GRCm39) |
I472F |
probably damaging |
Het |
Gm10392 |
A |
T |
11: 77,408,306 (GRCm39) |
D104E |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gpd1 |
A |
G |
15: 99,618,112 (GRCm39) |
I143V |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,608,643 (GRCm39) |
N1513I |
possibly damaging |
Het |
Jakmip2 |
T |
C |
18: 43,680,159 (GRCm39) |
I733V |
probably benign |
Het |
Klhl12 |
T |
A |
1: 134,391,689 (GRCm39) |
L107H |
probably damaging |
Het |
Lcn8 |
A |
G |
2: 25,545,157 (GRCm39) |
D109G |
probably damaging |
Het |
Maz |
A |
T |
7: 126,623,614 (GRCm39) |
|
probably null |
Het |
Mttp |
T |
A |
3: 137,812,890 (GRCm39) |
D595V |
probably damaging |
Het |
Mymk |
A |
C |
2: 26,956,406 (GRCm39) |
L58R |
possibly damaging |
Het |
Nckap1 |
A |
C |
2: 80,339,097 (GRCm39) |
I977S |
probably damaging |
Het |
Nckap1l |
A |
T |
15: 103,399,442 (GRCm39) |
I1021F |
probably benign |
Het |
Or12d2 |
A |
T |
17: 37,624,556 (GRCm39) |
C240S |
probably damaging |
Het |
Or4f14b |
A |
T |
2: 111,775,339 (GRCm39) |
M154K |
probably benign |
Het |
Or4f6 |
A |
T |
2: 111,839,361 (GRCm39) |
S57T |
possibly damaging |
Het |
Or6c38 |
G |
A |
10: 128,929,747 (GRCm39) |
T32I |
possibly damaging |
Het |
Pde5a |
T |
A |
3: 122,629,259 (GRCm39) |
F644L |
probably damaging |
Het |
Pdzd2 |
A |
G |
15: 12,592,440 (GRCm39) |
I68T |
probably damaging |
Het |
Pik3r4 |
T |
A |
9: 105,563,349 (GRCm39) |
V1242D |
possibly damaging |
Het |
Ppp6r2 |
G |
T |
15: 89,162,929 (GRCm39) |
W517L |
probably damaging |
Het |
Scrib |
A |
T |
15: 75,933,616 (GRCm39) |
I703K |
probably benign |
Het |
Serpina1b |
T |
C |
12: 103,695,576 (GRCm39) |
S322G |
probably benign |
Het |
Siglecg |
C |
A |
7: 43,058,187 (GRCm39) |
Q25K |
probably benign |
Het |
Slc12a3 |
G |
A |
8: 95,092,447 (GRCm39) |
|
probably null |
Het |
Slc6a13 |
G |
T |
6: 121,302,116 (GRCm39) |
|
probably null |
Het |
Stard13 |
A |
T |
5: 150,986,309 (GRCm39) |
D282E |
probably damaging |
Het |
Tpte |
A |
T |
8: 22,845,489 (GRCm39) |
Y513F |
possibly damaging |
Het |
Ubox5 |
T |
A |
2: 130,442,579 (GRCm39) |
K36I |
possibly damaging |
Het |
|
Other mutations in Avpr1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00671:Avpr1a
|
APN |
10 |
122,285,256 (GRCm39) |
missense |
probably benign |
|
IGL01062:Avpr1a
|
APN |
10 |
122,285,434 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01317:Avpr1a
|
APN |
10 |
122,285,472 (GRCm39) |
missense |
probably benign |
|
IGL01813:Avpr1a
|
APN |
10 |
122,284,916 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02549:Avpr1a
|
APN |
10 |
122,288,069 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02967:Avpr1a
|
APN |
10 |
122,285,367 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03114:Avpr1a
|
APN |
10 |
122,285,623 (GRCm39) |
missense |
probably damaging |
0.99 |
H8786:Avpr1a
|
UTSW |
10 |
122,285,373 (GRCm39) |
missense |
probably benign |
0.01 |
R0211:Avpr1a
|
UTSW |
10 |
122,285,374 (GRCm39) |
missense |
possibly damaging |
0.54 |
R0268:Avpr1a
|
UTSW |
10 |
122,285,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R1188:Avpr1a
|
UTSW |
10 |
122,284,824 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1909:Avpr1a
|
UTSW |
10 |
122,288,113 (GRCm39) |
missense |
probably benign |
|
R1935:Avpr1a
|
UTSW |
10 |
122,285,695 (GRCm39) |
critical splice donor site |
probably null |
|
R2404:Avpr1a
|
UTSW |
10 |
122,285,115 (GRCm39) |
missense |
possibly damaging |
0.78 |
R3707:Avpr1a
|
UTSW |
10 |
122,285,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R3927:Avpr1a
|
UTSW |
10 |
122,285,616 (GRCm39) |
missense |
probably benign |
0.00 |
R4722:Avpr1a
|
UTSW |
10 |
122,284,906 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4952:Avpr1a
|
UTSW |
10 |
122,285,659 (GRCm39) |
missense |
probably damaging |
0.98 |
R5384:Avpr1a
|
UTSW |
10 |
122,285,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R5807:Avpr1a
|
UTSW |
10 |
122,285,376 (GRCm39) |
missense |
probably benign |
0.14 |
R6024:Avpr1a
|
UTSW |
10 |
122,285,053 (GRCm39) |
missense |
probably damaging |
0.99 |
R7043:Avpr1a
|
UTSW |
10 |
122,285,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R7359:Avpr1a
|
UTSW |
10 |
122,285,283 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7455:Avpr1a
|
UTSW |
10 |
122,285,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R9225:Avpr1a
|
UTSW |
10 |
122,285,466 (GRCm39) |
missense |
probably benign |
0.17 |
R9695:Avpr1a
|
UTSW |
10 |
122,284,845 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Avpr1a
|
UTSW |
10 |
122,285,482 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2014-05-07 |