Incidental Mutation 'R3707:Avpr1a'
| ID |
258754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Avpr1a
|
| Ensembl Gene |
ENSMUSG00000020123 |
| Gene Name |
arginine vasopressin receptor 1A |
| Synonyms |
V1aR |
| MMRRC Submission |
040700-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R3707 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
122284404-122289357 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 122285014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 102
(F102Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020323]
|
| AlphaFold |
Q62463 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020323
AA Change: F102Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020323
Gene: ENSMUSG00000020123
AA Change: F102Y
| 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
|
| Meta Mutation Damage Score |
0.3673 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
97% (37/38) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Bcs1l |
A |
G |
1: 74,629,264 (GRCm39) |
|
probably benign |
Het |
| Chrng |
C |
T |
1: 87,138,333 (GRCm39) |
Q375* |
probably null |
Het |
| Cplane1 |
T |
C |
15: 8,289,300 (GRCm39) |
S2917P |
unknown |
Het |
| Cyp2d10 |
A |
G |
15: 82,287,217 (GRCm39) |
F469L |
possibly damaging |
Het |
| Dennd6a |
T |
C |
14: 26,313,546 (GRCm39) |
|
probably benign |
Het |
| Eef2k |
C |
A |
7: 120,483,935 (GRCm39) |
L224I |
probably damaging |
Het |
| Gm10033 |
G |
C |
8: 69,825,068 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11545 |
T |
C |
11: 94,648,385 (GRCm39) |
|
noncoding transcript |
Het |
| Herpud1 |
T |
A |
8: 95,118,867 (GRCm39) |
V207D |
probably damaging |
Het |
| Hmbox1 |
T |
C |
14: 65,134,285 (GRCm39) |
Y105C |
probably benign |
Het |
| Ighv1-85 |
A |
T |
12: 115,963,836 (GRCm39) |
W55R |
probably damaging |
Het |
| Lgr4 |
T |
C |
2: 109,801,099 (GRCm39) |
L83P |
probably damaging |
Het |
| Lrch1 |
C |
T |
14: 75,095,437 (GRCm39) |
M134I |
probably damaging |
Het |
| Macrod2 |
C |
A |
2: 141,652,549 (GRCm39) |
T204K |
probably damaging |
Het |
| Mtg1 |
A |
T |
7: 139,729,717 (GRCm39) |
K269M |
probably damaging |
Het |
| Nkain3 |
A |
T |
4: 20,484,920 (GRCm39) |
F52L |
possibly damaging |
Het |
| Nr4a3 |
A |
T |
4: 48,056,699 (GRCm39) |
Y417F |
probably damaging |
Het |
| Or12e10 |
T |
C |
2: 87,640,520 (GRCm39) |
C119R |
probably damaging |
Het |
| Or6c8 |
T |
A |
10: 128,915,254 (GRCm39) |
I193F |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
| Pdhb |
T |
C |
14: 8,170,409 (GRCm38) |
N114S |
probably damaging |
Het |
| Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
| Pimreg |
G |
A |
11: 71,937,158 (GRCm39) |
|
probably benign |
Het |
| Ppfia4 |
T |
C |
1: 134,237,398 (GRCm39) |
E967G |
probably damaging |
Het |
| Resf1 |
C |
T |
6: 149,230,611 (GRCm39) |
S1219L |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,983,592 (GRCm39) |
D578E |
probably damaging |
Het |
| Rrbp1 |
G |
T |
2: 143,795,197 (GRCm39) |
A1269E |
probably benign |
Het |
| Rufy3 |
G |
A |
5: 88,790,891 (GRCm39) |
A531T |
probably benign |
Het |
| Slc22a22 |
C |
A |
15: 57,114,369 (GRCm39) |
L319F |
probably damaging |
Het |
| Tapbpl |
A |
G |
6: 125,201,658 (GRCm39) |
|
probably null |
Het |
| Tdrd1 |
T |
C |
19: 56,854,425 (GRCm39) |
S1124P |
possibly damaging |
Het |
| Top2a |
T |
C |
11: 98,887,651 (GRCm39) |
K1286E |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,388,447 (GRCm38) |
V188A |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,296,895 (GRCm39) |
I630N |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,315,981 (GRCm39) |
T613A |
possibly damaging |
Het |
| Zbtb40 |
A |
G |
4: 136,726,879 (GRCm39) |
Y486H |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,960,553 (GRCm39) |
T13A |
probably benign |
Het |
| Zfx |
A |
G |
X: 93,142,413 (GRCm39) |
V36A |
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 |
|
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 |
|
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'- AACTTAGGACGCGGGTCTTC -3'
(R):5'- TGGTATGCTCAGAACGAAACTC -3'
Sequencing Primer
(F):5'- ACAGCATGAGTTTCCCGC -3'
(R):5'- CTGCTGCAGGGTCTTGAGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation