Incidental Mutation 'IGL00671:Avpr1a'
ID |
13316 |
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: 0.108)
|
Stock # |
IGL00671
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
122284404-122289357 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 122285256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 183
(I183L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020323]
|
AlphaFold |
Q62463 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020323
AA Change: I183L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000020323 Gene: ENSMUSG00000020123 AA Change: I183L
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
T |
5: 8,980,745 (GRCm39) |
R576* |
probably null |
Het |
Astl |
T |
C |
2: 127,185,941 (GRCm39) |
|
probably null |
Het |
Atp6v1h |
T |
C |
1: 5,194,694 (GRCm39) |
|
probably null |
Het |
Cep83 |
A |
G |
10: 94,625,626 (GRCm39) |
T679A |
possibly damaging |
Het |
Dennd1b |
A |
T |
1: 139,061,475 (GRCm39) |
I386F |
possibly damaging |
Het |
Dnaaf6rt |
G |
A |
1: 31,262,053 (GRCm39) |
V12I |
probably benign |
Het |
Ect2 |
T |
C |
3: 27,192,818 (GRCm39) |
N344S |
probably benign |
Het |
Ghrh |
G |
A |
2: 157,175,389 (GRCm39) |
H31Y |
probably benign |
Het |
Gpc6 |
A |
T |
14: 117,424,199 (GRCm39) |
T96S |
probably benign |
Het |
Man2b1 |
A |
C |
8: 85,820,567 (GRCm39) |
D618A |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,084,183 (GRCm39) |
E1602G |
probably damaging |
Het |
Myo16 |
T |
A |
8: 10,411,067 (GRCm39) |
I175N |
probably damaging |
Het |
Oga |
C |
A |
19: 45,753,979 (GRCm39) |
A632S |
possibly damaging |
Het |
Otof |
C |
T |
5: 30,543,097 (GRCm39) |
|
probably null |
Het |
Otop2 |
A |
G |
11: 115,222,735 (GRCm39) |
N539S |
probably damaging |
Het |
Ralbp1 |
T |
A |
17: 66,171,607 (GRCm39) |
E122V |
possibly damaging |
Het |
Spata31e2 |
A |
T |
1: 26,723,940 (GRCm39) |
S413R |
possibly damaging |
Het |
Tcf12 |
T |
A |
9: 71,775,400 (GRCm39) |
N450I |
probably damaging |
Het |
Tle3 |
T |
A |
9: 61,319,652 (GRCm39) |
N492K |
probably damaging |
Het |
Ttll8 |
T |
C |
15: 88,798,356 (GRCm39) |
D793G |
probably benign |
Het |
Uggt2 |
T |
C |
14: 119,280,211 (GRCm39) |
T756A |
possibly damaging |
Het |
Zfand1 |
T |
C |
3: 10,411,084 (GRCm39) |
H96R |
probably damaging |
Het |
Zfp617 |
C |
T |
8: 72,686,386 (GRCm39) |
R239* |
probably null |
Het |
Zmpste24 |
A |
G |
4: 120,940,012 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Avpr1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL01947:Avpr1a
|
APN |
10 |
122,288,087 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2012-12-06 |