Incidental Mutation 'IGL01813:Avpr1a'
| ID |
154327 |
| 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 # |
IGL01813
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
122284404-122289357 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 122284916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 69
(N69K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020323]
|
| AlphaFold |
Q62463 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020323
AA Change: N69K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020323
Gene: ENSMUSG00000020123
AA Change: N69K
| 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
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,117,936 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,906,359 (GRCm39) |
V929A |
probably benign |
Het |
| Aldh2 |
T |
C |
5: 121,710,136 (GRCm39) |
I400V |
probably benign |
Het |
| Atxn2l |
T |
C |
7: 126,099,425 (GRCm39) |
D84G |
probably damaging |
Het |
| BC034090 |
G |
A |
1: 155,102,085 (GRCm39) |
Q60* |
probably null |
Het |
| Bltp1 |
G |
A |
3: 36,982,669 (GRCm39) |
S778N |
possibly damaging |
Het |
| Bub3 |
T |
C |
7: 131,170,362 (GRCm39) |
S295P |
probably benign |
Het |
| Cacna1b |
T |
C |
2: 24,499,902 (GRCm39) |
S161G |
probably damaging |
Het |
| Clba1 |
C |
T |
12: 112,779,179 (GRCm39) |
T272M |
probably damaging |
Het |
| Col6a4 |
T |
A |
9: 105,954,452 (GRCm39) |
S296C |
probably damaging |
Het |
| Cyp4f15 |
G |
A |
17: 32,905,131 (GRCm39) |
R38H |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,122,799 (GRCm39) |
I2052M |
probably damaging |
Het |
| Gm11627 |
T |
C |
11: 102,469,634 (GRCm39) |
|
probably benign |
Het |
| Jmjd8 |
A |
T |
17: 26,048,212 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
A |
G |
5: 25,495,802 (GRCm39) |
V629A |
possibly damaging |
Het |
| Kremen1 |
T |
C |
11: 5,149,667 (GRCm39) |
T335A |
probably benign |
Het |
| Oosp2 |
T |
C |
19: 11,628,847 (GRCm39) |
T85A |
probably benign |
Het |
| Or12d17 |
A |
G |
17: 37,777,649 (GRCm39) |
E184G |
probably damaging |
Het |
| Or8s10 |
A |
G |
15: 98,335,530 (GRCm39) |
Y60C |
possibly damaging |
Het |
| Pex5l |
T |
C |
3: 33,136,204 (GRCm39) |
E5G |
probably benign |
Het |
| Pigk |
A |
T |
3: 152,448,156 (GRCm39) |
Q173L |
probably damaging |
Het |
| Pik3c2g |
T |
A |
6: 139,599,407 (GRCm39) |
N174K |
possibly damaging |
Het |
| Plb1 |
C |
T |
5: 32,486,429 (GRCm39) |
H893Y |
probably damaging |
Het |
| Pus7 |
T |
C |
5: 23,965,302 (GRCm39) |
|
probably benign |
Het |
| R3hdm1 |
G |
A |
1: 128,102,970 (GRCm39) |
|
probably null |
Het |
| Samd7 |
C |
T |
3: 30,808,435 (GRCm39) |
P83S |
probably benign |
Het |
| Supt5 |
T |
A |
7: 28,023,400 (GRCm39) |
Y293F |
probably damaging |
Het |
| Tbc1d30 |
T |
C |
10: 121,102,956 (GRCm39) |
D692G |
probably benign |
Het |
| Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
| Tnn |
A |
T |
1: 159,916,008 (GRCm39) |
H1236Q |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,781,914 (GRCm39) |
I667T |
probably benign |
Het |
| Vmn1r183 |
T |
A |
7: 23,754,985 (GRCm39) |
F263I |
probably benign |
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 |
|
|
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 |
2014-02-04 |
Incidental Mutation