Incidental Mutation 'R7211:Aqr'
| ID |
561038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aqr
|
| Ensembl Gene |
ENSMUSG00000040383 |
| Gene Name |
aquarius |
| Synonyms |
|
| MMRRC Submission |
045339-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7211 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
113931642-114005788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113965204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 587
(V587A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043160]
[ENSMUST00000102543]
|
| AlphaFold |
Q8CFQ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043160
AA Change: V587A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000047157
Gene: ENSMUSG00000040383
AA Change: V587A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aquarius_N
|
18 |
802 |
N/A |
PFAM |
|
Pfam:ResIII
|
797 |
911 |
8.2e-7 |
PFAM |
|
Pfam:AAA_11
|
801 |
1111 |
9.6e-32 |
PFAM |
|
Pfam:AAA_19
|
807 |
894 |
3.7e-11 |
PFAM |
|
Pfam:AAA_12
|
1119 |
1312 |
2.1e-27 |
PFAM |
|
low complexity region
|
1394 |
1417 |
N/A |
INTRINSIC |
|
low complexity region
|
1455 |
1468 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102543
AA Change: V587A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099602
Gene: ENSMUSG00000040383
AA Change: V587A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
762 |
776 |
N/A |
INTRINSIC |
|
Pfam:AAA_11
|
801 |
1111 |
3.2e-32 |
PFAM |
|
Pfam:AAA_19
|
807 |
893 |
6.5e-11 |
PFAM |
|
Pfam:AAA_12
|
1119 |
1312 |
2.6e-27 |
PFAM |
|
low complexity region
|
1348 |
1359 |
N/A |
INTRINSIC |
|
low complexity region
|
1371 |
1382 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
99% (84/85) |
| MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe defects in placental vascularization with few vessels entering the placenta and little branching. Mutants die between embryonic days 9.5 and 10.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| a |
T |
A |
2: 154,887,699 (GRCm39) |
V53E |
probably damaging |
Het |
| A1cf |
A |
G |
19: 31,904,541 (GRCm39) |
Y268C |
probably benign |
Het |
| Adam34l |
T |
A |
8: 44,078,914 (GRCm39) |
S437C |
probably damaging |
Het |
| Adamts13 |
C |
T |
2: 26,879,310 (GRCm39) |
T621I |
probably benign |
Het |
| Akr1b7 |
A |
T |
6: 34,398,049 (GRCm39) |
N293Y |
probably benign |
Het |
| Angpt2 |
T |
A |
8: 18,791,147 (GRCm39) |
T50S |
probably benign |
Het |
| Anks1b |
C |
A |
10: 90,346,932 (GRCm39) |
A744D |
possibly damaging |
Het |
| Atm |
A |
G |
9: 53,399,860 (GRCm39) |
V1540A |
probably benign |
Het |
| Brd10 |
A |
G |
19: 29,763,712 (GRCm39) |
F121S |
|
Het |
| C4b |
A |
G |
17: 34,954,508 (GRCm39) |
V887A |
possibly damaging |
Het |
| Cd200r1 |
A |
G |
16: 44,609,120 (GRCm39) |
T26A |
probably benign |
Het |
| Ciao1 |
A |
G |
2: 127,088,928 (GRCm39) |
|
probably null |
Het |
| Clba1 |
T |
A |
12: 112,774,632 (GRCm39) |
|
probably null |
Het |
| Clca3a2 |
A |
G |
3: 144,519,775 (GRCm39) |
C200R |
probably benign |
Het |
| Col6a5 |
T |
A |
9: 105,805,363 (GRCm39) |
Q1181L |
unknown |
Het |
| Copb2 |
T |
A |
9: 98,456,198 (GRCm39) |
I244N |
probably damaging |
Het |
| Cpb2 |
A |
G |
14: 75,512,430 (GRCm39) |
Y281C |
probably damaging |
Het |
| Disp3 |
C |
A |
4: 148,325,979 (GRCm39) |
V1260F |
probably damaging |
Het |
| Dnajc2 |
C |
T |
5: 21,981,777 (GRCm39) |
R123Q |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,067,425 (GRCm39) |
N162S |
probably damaging |
Het |
| Dsp |
T |
A |
13: 38,372,511 (GRCm39) |
|
probably null |
Het |
| Edc4 |
T |
A |
8: 106,612,941 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
C |
A |
11: 104,601,539 (GRCm39) |
A284D |
probably benign |
Het |
| Efcab3 |
G |
T |
11: 104,615,435 (GRCm39) |
|
probably null |
Het |
| Epm2a |
T |
C |
10: 11,219,419 (GRCm39) |
Y69H |
probably benign |
Het |
| Frzb |
C |
A |
2: 80,248,669 (GRCm39) |
E262* |
probably null |
Het |
| Gaa |
T |
C |
11: 119,175,030 (GRCm39) |
V877A |
possibly damaging |
Het |
| Gpnmb |
T |
C |
6: 49,028,949 (GRCm39) |
I489T |
possibly damaging |
Het |
| Gpr31b |
T |
C |
17: 13,271,104 (GRCm39) |
T22A |
probably benign |
Het |
| Gys1 |
T |
A |
7: 45,097,684 (GRCm39) |
F477Y |
possibly damaging |
Het |
| Hoxc11 |
A |
C |
15: 102,863,487 (GRCm39) |
E176A |
possibly damaging |
Het |
| Kcnk13 |
T |
A |
12: 100,028,076 (GRCm39) |
F384I |
probably damaging |
Het |
| Ky |
A |
G |
9: 102,386,349 (GRCm39) |
E59G |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,881,491 (GRCm39) |
D93E |
probably damaging |
Het |
| Lrrc23 |
A |
T |
6: 124,755,152 (GRCm39) |
N128K |
probably benign |
Het |
| Lrrc71 |
G |
T |
3: 87,650,633 (GRCm39) |
Q210K |
possibly damaging |
Het |
| Map1a |
G |
A |
2: 121,135,124 (GRCm39) |
R1980H |
probably benign |
Het |
| Med15 |
T |
C |
16: 17,515,977 (GRCm39) |
D15G |
unknown |
Het |
| Mfng |
A |
T |
15: 78,657,268 (GRCm39) |
S69T |
probably benign |
Het |
| Muc16 |
T |
G |
9: 18,409,866 (GRCm39) |
S181R |
probably damaging |
Het |
| Mug1 |
A |
T |
6: 121,857,498 (GRCm39) |
Q1074L |
possibly damaging |
Het |
| Myorg |
A |
G |
4: 41,498,028 (GRCm39) |
I534T |
probably damaging |
Het |
| Nbea |
T |
A |
3: 55,912,322 (GRCm39) |
N1155I |
probably benign |
Het |
| Nbeal1 |
T |
G |
1: 60,240,110 (GRCm39) |
L159V |
probably damaging |
Het |
| Nudt1 |
C |
A |
5: 140,323,402 (GRCm39) |
P118Q |
possibly damaging |
Het |
| Or2q1 |
A |
T |
6: 42,794,950 (GRCm39) |
T182S |
probably benign |
Het |
| Or8g37 |
A |
C |
9: 39,731,154 (GRCm39) |
Q73P |
possibly damaging |
Het |
| Pcdhga6 |
T |
A |
18: 37,842,173 (GRCm39) |
V631D |
probably benign |
Het |
| Pcna |
A |
C |
2: 132,091,792 (GRCm39) |
V203G |
probably damaging |
Het |
| Pgf |
G |
T |
12: 85,222,549 (GRCm39) |
N33K |
probably benign |
Het |
| Pgm2 |
T |
C |
5: 64,263,193 (GRCm39) |
L280P |
probably damaging |
Het |
| Plcg1 |
G |
A |
2: 160,573,794 (GRCm39) |
A20T |
probably benign |
Het |
| Pou2af2 |
G |
T |
9: 51,201,733 (GRCm39) |
Q108K |
probably damaging |
Het |
| Prdx5 |
G |
T |
19: 6,884,958 (GRCm39) |
D126E |
probably damaging |
Het |
| Prkag2 |
T |
C |
5: 25,200,296 (GRCm39) |
T20A |
probably benign |
Het |
| Prr14l |
T |
A |
5: 32,987,431 (GRCm39) |
Q688L |
probably damaging |
Het |
| Pxdn |
T |
G |
12: 30,034,903 (GRCm39) |
D253E |
possibly damaging |
Het |
| Rbm18 |
A |
T |
2: 36,012,905 (GRCm39) |
C53* |
probably null |
Het |
| Rprm |
A |
T |
2: 53,975,270 (GRCm39) |
L16Q |
probably benign |
Het |
| Saysd1 |
A |
G |
14: 20,127,576 (GRCm39) |
F116S |
probably damaging |
Het |
| Scg3 |
A |
G |
9: 75,589,366 (GRCm39) |
S96P |
probably benign |
Het |
| Scgb1b3 |
C |
T |
7: 31,075,078 (GRCm39) |
L16F |
unknown |
Het |
| Sh3tc2 |
A |
G |
18: 62,122,474 (GRCm39) |
T412A |
probably benign |
Het |
| Skint6 |
T |
C |
4: 113,095,566 (GRCm39) |
N31S |
probably benign |
Het |
| Slc22a2 |
T |
C |
17: 12,805,770 (GRCm39) |
|
probably null |
Het |
| Slc8a2 |
C |
T |
7: 15,874,538 (GRCm39) |
T262I |
possibly damaging |
Het |
| Smarcc1 |
A |
T |
9: 109,979,082 (GRCm39) |
K188N |
probably damaging |
Het |
| Taf6 |
T |
C |
5: 138,177,088 (GRCm39) |
T660A |
possibly damaging |
Het |
| Tbx2 |
C |
T |
11: 85,725,540 (GRCm39) |
R164C |
probably damaging |
Het |
| Tec |
T |
C |
5: 72,939,355 (GRCm39) |
D220G |
probably null |
Het |
| Tfec |
A |
T |
6: 16,867,464 (GRCm39) |
W59R |
probably damaging |
Het |
| Tmtc2 |
G |
T |
10: 105,409,587 (GRCm39) |
S8R |
probably benign |
Het |
| Tmtc3 |
A |
T |
10: 100,283,467 (GRCm39) |
M696K |
probably benign |
Het |
| Trpc3 |
A |
T |
3: 36,694,882 (GRCm39) |
S691T |
possibly damaging |
Het |
| Ttf2 |
A |
T |
3: 100,866,623 (GRCm39) |
M503K |
probably benign |
Het |
| Ttll7 |
A |
G |
3: 146,619,031 (GRCm39) |
H312R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,598,032 (GRCm39) |
Y19627C |
probably damaging |
Het |
| Ugt2b35 |
T |
C |
5: 87,149,177 (GRCm39) |
S143P |
probably benign |
Het |
| Usp53 |
A |
G |
3: 122,751,299 (GRCm39) |
S253P |
probably damaging |
Het |
| Utp18 |
A |
G |
11: 93,776,206 (GRCm39) |
V93A |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,277,079 (GRCm39) |
N3413D |
possibly damaging |
Het |
| Zhx1 |
T |
C |
15: 57,916,647 (GRCm39) |
D533G |
possibly damaging |
Het |
|
| Other mutations in Aqr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00572:Aqr
|
APN |
2 |
113,956,423 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL00694:Aqr
|
APN |
2 |
113,982,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02113:Aqr
|
APN |
2 |
113,950,508 (GRCm39) |
nonsense |
probably null |
|
|
IGL02297:Aqr
|
APN |
2 |
113,980,962 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02380:Aqr
|
APN |
2 |
113,940,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02410:Aqr
|
APN |
2 |
113,967,398 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02413:Aqr
|
APN |
2 |
113,949,261 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02474:Aqr
|
APN |
2 |
113,943,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02941:Aqr
|
APN |
2 |
113,943,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02981:Aqr
|
APN |
2 |
113,965,305 (GRCm39) |
splice site |
probably benign |
|
|
IGL03001:Aqr
|
APN |
2 |
113,977,400 (GRCm39) |
missense |
probably benign |
|
|
IGL03092:Aqr
|
APN |
2 |
113,989,424 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL03222:Aqr
|
APN |
2 |
113,951,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
capricorn
|
UTSW |
2 |
113,936,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Goat
|
UTSW |
2 |
113,988,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Pliades
|
UTSW |
2 |
113,963,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
sagittarius
|
UTSW |
2 |
113,979,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Zodiac
|
UTSW |
2 |
113,938,590 (GRCm39) |
missense |
probably damaging |
0.96 |
|
PIT4531001:Aqr
|
UTSW |
2 |
113,961,215 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0103:Aqr
|
UTSW |
2 |
113,979,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Aqr
|
UTSW |
2 |
113,979,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0152:Aqr
|
UTSW |
2 |
113,989,491 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0352:Aqr
|
UTSW |
2 |
114,000,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0371:Aqr
|
UTSW |
2 |
113,988,085 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0374:Aqr
|
UTSW |
2 |
113,961,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0550:Aqr
|
UTSW |
2 |
113,963,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0604:Aqr
|
UTSW |
2 |
113,961,085 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0685:Aqr
|
UTSW |
2 |
113,971,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1236:Aqr
|
UTSW |
2 |
113,947,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1434:Aqr
|
UTSW |
2 |
113,980,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1806:Aqr
|
UTSW |
2 |
113,992,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2154:Aqr
|
UTSW |
2 |
113,967,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2185:Aqr
|
UTSW |
2 |
113,961,015 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2377:Aqr
|
UTSW |
2 |
113,971,421 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2862:Aqr
|
UTSW |
2 |
113,967,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3615:Aqr
|
UTSW |
2 |
113,967,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3616:Aqr
|
UTSW |
2 |
113,967,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3713:Aqr
|
UTSW |
2 |
113,949,150 (GRCm39) |
splice site |
probably benign |
|
|
R3715:Aqr
|
UTSW |
2 |
113,949,150 (GRCm39) |
splice site |
probably benign |
|
|
R4586:Aqr
|
UTSW |
2 |
113,943,058 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4663:Aqr
|
UTSW |
2 |
113,992,147 (GRCm39) |
nonsense |
probably null |
|
|
R4809:Aqr
|
UTSW |
2 |
114,005,695 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4887:Aqr
|
UTSW |
2 |
113,980,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Aqr
|
UTSW |
2 |
113,980,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4952:Aqr
|
UTSW |
2 |
113,940,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Aqr
|
UTSW |
2 |
113,943,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5050:Aqr
|
UTSW |
2 |
114,000,506 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5050:Aqr
|
UTSW |
2 |
113,943,090 (GRCm39) |
nonsense |
probably null |
|
|
R5213:Aqr
|
UTSW |
2 |
113,943,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5263:Aqr
|
UTSW |
2 |
113,947,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5470:Aqr
|
UTSW |
2 |
113,988,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5488:Aqr
|
UTSW |
2 |
113,963,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5489:Aqr
|
UTSW |
2 |
113,963,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5567:Aqr
|
UTSW |
2 |
113,979,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5570:Aqr
|
UTSW |
2 |
113,979,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5641:Aqr
|
UTSW |
2 |
113,979,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5685:Aqr
|
UTSW |
2 |
113,986,746 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5963:Aqr
|
UTSW |
2 |
113,957,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5992:Aqr
|
UTSW |
2 |
113,973,530 (GRCm39) |
nonsense |
probably null |
|
|
R6015:Aqr
|
UTSW |
2 |
114,005,646 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R6253:Aqr
|
UTSW |
2 |
113,986,758 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6264:Aqr
|
UTSW |
2 |
113,940,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6773:Aqr
|
UTSW |
2 |
113,979,477 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6877:Aqr
|
UTSW |
2 |
113,947,052 (GRCm39) |
nonsense |
probably null |
|
|
R7232:Aqr
|
UTSW |
2 |
113,936,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7308:Aqr
|
UTSW |
2 |
113,934,543 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7396:Aqr
|
UTSW |
2 |
113,950,427 (GRCm39) |
nonsense |
probably null |
|
|
R7490:Aqr
|
UTSW |
2 |
113,989,349 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7526:Aqr
|
UTSW |
2 |
113,938,590 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7629:Aqr
|
UTSW |
2 |
113,945,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7828:Aqr
|
UTSW |
2 |
113,979,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8037:Aqr
|
UTSW |
2 |
113,992,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8166:Aqr
|
UTSW |
2 |
113,943,806 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8712:Aqr
|
UTSW |
2 |
113,949,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8904:Aqr
|
UTSW |
2 |
113,967,474 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9487:Aqr
|
UTSW |
2 |
113,934,528 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9527:Aqr
|
UTSW |
2 |
113,932,037 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9664:Aqr
|
UTSW |
2 |
113,971,396 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Aqr
|
UTSW |
2 |
113,940,472 (GRCm39) |
missense |
probably benign |
0.25 |
|
Z1176:Aqr
|
UTSW |
2 |
113,938,603 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTACCTTACATATGACTGTCTGTG -3'
(R):5'- GATGACTATGAGTTATATGCCAGCC -3'
Sequencing Primer
(F):5'- CCTTACATATGACTGTCTGTGTTTAC -3'
(R):5'- GAACGGTGATGAACATCCAATTTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation