Incidental Mutation 'R1188:Avpr1a'
| ID |
102373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Avpr1a
|
| Ensembl Gene |
ENSMUSG00000020123 |
| Gene Name |
arginine vasopressin receptor 1A |
| Synonyms |
V1aR |
| MMRRC Submission |
039260-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R1188 (G1)
|
| Quality Score |
187 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
122284404-122289357 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 122284824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 39
(G39C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020323]
|
| AlphaFold |
Q62463 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020323
AA Change: G39C
PolyPhen 2
Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000020323
Gene: ENSMUSG00000020123
AA Change: G39C
| 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 |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.6%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
T |
C |
5: 66,147,741 (GRCm39) |
Y14C |
unknown |
Het |
| Afap1l2 |
T |
C |
19: 56,913,501 (GRCm39) |
K312E |
probably damaging |
Het |
| Amigo2 |
T |
A |
15: 97,143,594 (GRCm39) |
E276V |
probably benign |
Het |
| Atf2 |
A |
G |
2: 73,675,881 (GRCm39) |
F114L |
probably damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,919,788 (GRCm39) |
R468G |
possibly damaging |
Het |
| Celf6 |
G |
T |
9: 59,497,961 (GRCm39) |
R130L |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,378,939 (GRCm39) |
S1296P |
probably damaging |
Het |
| Fnip2 |
C |
T |
3: 79,369,469 (GRCm39) |
R1072H |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,805,361 (GRCm39) |
C560F |
possibly damaging |
Het |
| Get3 |
A |
G |
8: 85,746,422 (GRCm39) |
I142T |
probably damaging |
Het |
| Gpr20 |
A |
C |
15: 73,567,617 (GRCm39) |
H257Q |
probably damaging |
Het |
| Gys2 |
T |
A |
6: 142,400,909 (GRCm39) |
H297L |
probably damaging |
Het |
| Habp2 |
G |
A |
19: 56,300,154 (GRCm39) |
S201N |
probably benign |
Het |
| Hars2 |
T |
C |
18: 36,921,022 (GRCm39) |
I198T |
probably damaging |
Het |
| Jag2 |
G |
A |
12: 112,883,741 (GRCm39) |
Q247* |
probably null |
Het |
| Jam2 |
A |
G |
16: 84,603,755 (GRCm39) |
T81A |
probably damaging |
Het |
| Mrps26 |
G |
A |
2: 130,406,301 (GRCm39) |
E145K |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,105,486 (GRCm39) |
F1545L |
probably benign |
Het |
| Or10d4c |
A |
G |
9: 39,558,772 (GRCm39) |
Y250C |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,286,118 (GRCm39) |
V1074D |
possibly damaging |
Het |
| Prkag1 |
T |
A |
15: 98,712,479 (GRCm39) |
I118F |
probably damaging |
Het |
| R3hdm2 |
G |
A |
10: 127,288,624 (GRCm39) |
V91I |
probably benign |
Het |
| Rnf168 |
T |
C |
16: 32,117,477 (GRCm39) |
V346A |
probably benign |
Het |
| Slc17a7 |
T |
C |
7: 44,819,311 (GRCm39) |
V129A |
possibly damaging |
Het |
| Snai3 |
T |
A |
8: 123,181,701 (GRCm39) |
Q252L |
probably damaging |
Het |
| Snx17 |
T |
C |
5: 31,353,166 (GRCm39) |
V133A |
probably benign |
Het |
| Stt3a |
A |
G |
9: 36,662,636 (GRCm39) |
S59P |
probably damaging |
Het |
| Sun1 |
C |
T |
5: 139,224,611 (GRCm39) |
R546C |
probably damaging |
Het |
| Thsd4 |
T |
A |
9: 60,301,689 (GRCm39) |
Q202L |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,763,430 (GRCm39) |
T311A |
probably benign |
Het |
| Tshr |
T |
A |
12: 91,468,942 (GRCm39) |
D18E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,619,773 (GRCm39) |
L15965Q |
probably damaging |
Het |
| Wnk1 |
C |
A |
6: 119,925,670 (GRCm39) |
E1265* |
probably null |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGCCACTAAGATGAGAAGGAGC -3'
(R):5'- GTCATCACCACCAGCATGTAGGAAG -3'
Sequencing Primer
(F):5'- AGGCAGCCTAAGACTGCTTTG -3'
(R):5'- TAGGTGATGTCCCAGCACAG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation