Incidental Mutation 'R3927:Avpr1a'
ID |
308337 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Avpr1a
|
Ensembl Gene |
ENSMUSG00000020123 |
Gene Name |
arginine vasopressin receptor 1A |
Synonyms |
V1aR |
MMRRC Submission |
040822-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R3927 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
122284404-122289357 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122285616 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 303
(S303G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020323]
|
AlphaFold |
Q62463 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020323
AA Change: S303G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000020323 Gene: ENSMUSG00000020123 AA Change: S303G
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
Validation Efficiency |
95% (40/42) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
A |
G |
2: 103,538,563 (GRCm39) |
|
probably null |
Het |
Alpk1 |
T |
C |
3: 127,471,365 (GRCm39) |
H1039R |
probably damaging |
Het |
Axdnd1 |
A |
G |
1: 156,246,840 (GRCm39) |
L79S |
probably damaging |
Het |
Baz1a |
A |
G |
12: 54,967,928 (GRCm39) |
I667T |
possibly damaging |
Het |
Bend5 |
A |
G |
4: 111,305,802 (GRCm39) |
Y282C |
possibly damaging |
Het |
Clstn3 |
T |
C |
6: 124,428,327 (GRCm39) |
D438G |
probably damaging |
Het |
Cog3 |
A |
G |
14: 75,980,998 (GRCm39) |
|
probably benign |
Het |
Cyp2j6 |
T |
C |
4: 96,441,525 (GRCm39) |
N55S |
probably benign |
Het |
Eif4b |
G |
A |
15: 101,992,745 (GRCm39) |
G101R |
probably damaging |
Het |
Epha2 |
T |
C |
4: 141,033,861 (GRCm39) |
L40P |
probably damaging |
Het |
Fig4 |
A |
G |
10: 41,139,135 (GRCm39) |
V356A |
probably benign |
Het |
Hal |
T |
C |
10: 93,349,888 (GRCm39) |
|
probably benign |
Het |
Helz |
A |
G |
11: 107,576,118 (GRCm39) |
Y1770C |
unknown |
Het |
Meis3 |
A |
G |
7: 15,911,419 (GRCm39) |
T39A |
probably benign |
Het |
Nod1 |
G |
T |
6: 54,921,902 (GRCm39) |
R139S |
probably benign |
Het |
Or6n2 |
A |
T |
1: 173,896,878 (GRCm39) |
N5Y |
probably damaging |
Het |
Pacsin3 |
C |
T |
2: 91,093,286 (GRCm39) |
|
probably null |
Het |
Plekhh1 |
T |
A |
12: 79,100,422 (GRCm39) |
I130N |
probably damaging |
Het |
Plxna2 |
G |
A |
1: 194,428,465 (GRCm39) |
E512K |
probably benign |
Het |
Ppp1r9a |
A |
G |
6: 5,057,531 (GRCm39) |
I215M |
probably damaging |
Het |
Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
Sap130 |
A |
T |
18: 31,807,435 (GRCm39) |
H414L |
possibly damaging |
Het |
Slc33a1 |
A |
G |
3: 63,871,145 (GRCm39) |
I156T |
probably benign |
Het |
Slc37a2 |
G |
A |
9: 37,146,803 (GRCm39) |
T338M |
probably damaging |
Het |
Spinkl |
T |
A |
18: 44,302,230 (GRCm39) |
|
probably null |
Het |
Tmc5 |
T |
A |
7: 118,251,878 (GRCm39) |
L657* |
probably null |
Het |
Tmem217 |
A |
G |
17: 29,745,677 (GRCm39) |
S18P |
probably damaging |
Het |
Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
Tubb4a |
A |
G |
17: 57,387,967 (GRCm39) |
V353A |
probably benign |
Het |
Ube3b |
T |
C |
5: 114,553,741 (GRCm39) |
F974L |
probably benign |
Het |
Ubqln5 |
A |
G |
7: 103,777,678 (GRCm39) |
L382P |
probably damaging |
Het |
Ufsp2 |
T |
A |
8: 46,436,723 (GRCm39) |
|
probably null |
Het |
Unkl |
C |
T |
17: 25,448,303 (GRCm39) |
T66I |
probably damaging |
Het |
Xrn2 |
T |
A |
2: 146,880,109 (GRCm39) |
N477K |
probably benign |
Het |
Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
Zzef1 |
T |
C |
11: 72,749,208 (GRCm39) |
S899P |
probably damaging |
Het |
Zzz3 |
T |
C |
3: 152,161,499 (GRCm39) |
Y298H |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCACATCTGGCGCAATGTC -3'
(R):5'- GTCCCAGGAATTTGCAATTTTGTTC -3'
Sequencing Primer
(F):5'- ATCTGGCGCAATGTCCGAGG -3'
(R):5'- ATAACATACATACACACACACACC -3'
|
Posted On |
2015-04-17 |