Incidental Mutation 'R0550:Aqr'
| ID |
45066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aqr
|
| Ensembl Gene |
ENSMUSG00000040383 |
| Gene Name |
aquarius |
| Synonyms |
|
| MMRRC Submission |
038742-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0550 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
113931642-114005788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 113963457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 664
(N664K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043160]
[ENSMUST00000102543]
|
| AlphaFold |
Q8CFQ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043160
AA Change: N664K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047157
Gene: ENSMUSG00000040383
AA Change: N664K
| 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 damaging
Transcript: ENSMUST00000102543
AA Change: N664K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099602
Gene: ENSMUSG00000040383
AA Change: N664K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126701
|
| Meta Mutation Damage Score |
0.1972 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
99% (76/77) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,184,666 (GRCm39) |
Y947N |
probably damaging |
Het |
| Acss3 |
C |
A |
10: 106,889,332 (GRCm39) |
G163C |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,392,884 (GRCm39) |
T1367A |
probably benign |
Het |
| Adcy2 |
A |
T |
13: 69,130,480 (GRCm39) |
S136T |
probably benign |
Het |
| Ahdc1 |
G |
A |
4: 132,790,348 (GRCm39) |
V530I |
probably benign |
Het |
| Aldh16a1 |
C |
T |
7: 44,795,653 (GRCm39) |
|
probably null |
Het |
| Ankrd36 |
T |
C |
11: 5,557,429 (GRCm39) |
|
probably null |
Het |
| Atp6v1c1 |
T |
C |
15: 38,683,173 (GRCm39) |
|
probably benign |
Het |
| Atp8b2 |
C |
T |
3: 89,866,368 (GRCm39) |
|
probably benign |
Het |
| Bbx |
T |
C |
16: 50,094,896 (GRCm39) |
|
probably benign |
Het |
| Bmper |
T |
A |
9: 23,285,181 (GRCm39) |
D243E |
probably benign |
Het |
| Casz1 |
GCCACCACCACCACCACCACCAC |
GCCACCACCACCACCACCAC |
4: 149,036,741 (GRCm39) |
|
probably benign |
Het |
| Catsperd |
T |
C |
17: 56,970,427 (GRCm39) |
|
probably null |
Het |
| Ccdc92b |
T |
A |
11: 74,520,771 (GRCm39) |
|
probably null |
Het |
| Cd2bp2 |
G |
T |
7: 126,792,996 (GRCm39) |
T342K |
probably damaging |
Het |
| Clrn3 |
T |
A |
7: 135,130,154 (GRCm39) |
I27F |
possibly damaging |
Het |
| Cnih3 |
TTGACGAG |
T |
1: 181,234,042 (GRCm39) |
|
probably null |
Het |
| Cntnap3 |
T |
C |
13: 64,909,814 (GRCm39) |
T764A |
possibly damaging |
Het |
| Cttnbp2 |
T |
G |
6: 18,435,308 (GRCm39) |
K183N |
possibly damaging |
Het |
| Cwc27 |
G |
A |
13: 104,941,457 (GRCm39) |
P155L |
probably damaging |
Het |
| Dcaf10 |
T |
C |
4: 45,372,753 (GRCm39) |
S389P |
probably benign |
Het |
| Ddx18 |
T |
C |
1: 121,483,104 (GRCm39) |
K561E |
probably benign |
Het |
| Dkk3 |
A |
G |
7: 111,757,452 (GRCm39) |
F51L |
probably damaging |
Het |
| Dnai1 |
C |
T |
4: 41,596,274 (GRCm39) |
R20* |
probably null |
Het |
| Dr1 |
G |
A |
5: 108,417,471 (GRCm39) |
G6S |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,120,954 (GRCm39) |
|
probably null |
Het |
| Eif3l |
A |
G |
15: 78,961,067 (GRCm39) |
Y16C |
probably damaging |
Het |
| Epb41 |
A |
G |
4: 131,702,924 (GRCm39) |
I464T |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,993,608 (GRCm39) |
K546E |
possibly damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,305,429 (GRCm39) |
D315G |
probably damaging |
Het |
| Fads6 |
A |
G |
11: 115,187,503 (GRCm39) |
I64T |
probably benign |
Het |
| Fshr |
T |
C |
17: 89,352,553 (GRCm39) |
N107S |
probably benign |
Het |
| Gbp11 |
A |
T |
5: 105,491,616 (GRCm39) |
N60K |
probably benign |
Het |
| Gm2a |
C |
T |
11: 54,994,491 (GRCm39) |
Q54* |
probably null |
Het |
| Hydin |
A |
G |
8: 111,314,407 (GRCm39) |
D4297G |
probably benign |
Het |
| Il6st |
G |
A |
13: 112,611,648 (GRCm39) |
|
probably null |
Het |
| Inpp4b |
T |
A |
8: 82,723,966 (GRCm39) |
H499Q |
probably benign |
Het |
| Kif5c |
A |
G |
2: 49,648,924 (GRCm39) |
K956R |
possibly damaging |
Het |
| Krt74 |
G |
A |
15: 101,669,114 (GRCm39) |
|
noncoding transcript |
Het |
| Map3k9 |
A |
T |
12: 81,772,555 (GRCm39) |
L649Q |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,730,479 (GRCm39) |
D2871G |
probably benign |
Het |
| Mylk4 |
T |
C |
13: 32,900,649 (GRCm39) |
T294A |
probably benign |
Het |
| Nbeal2 |
C |
T |
9: 110,471,226 (GRCm39) |
V252I |
probably benign |
Het |
| Nectin3 |
A |
G |
16: 46,279,183 (GRCm39) |
I265T |
possibly damaging |
Het |
| Opn1sw |
A |
T |
6: 29,380,203 (GRCm39) |
L71Q |
probably damaging |
Het |
| Or4c12 |
A |
G |
2: 89,773,733 (GRCm39) |
I242T |
probably damaging |
Het |
| Or52m1 |
G |
A |
7: 102,290,157 (GRCm39) |
E235K |
possibly damaging |
Het |
| Or5aq6 |
G |
T |
2: 86,923,473 (GRCm39) |
H89Q |
probably benign |
Het |
| Or5b97 |
A |
T |
19: 12,879,164 (GRCm39) |
|
probably null |
Het |
| Or5k17 |
A |
G |
16: 58,746,748 (GRCm39) |
F62S |
probably damaging |
Het |
| Or8b46 |
T |
A |
9: 38,450,676 (GRCm39) |
C162S |
probably damaging |
Het |
| Or8k27 |
A |
T |
2: 86,276,220 (GRCm39) |
Y35* |
probably null |
Het |
| Pced1a |
G |
A |
2: 130,261,553 (GRCm39) |
P367S |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,417,447 (GRCm39) |
M2568K |
probably null |
Het |
| Pla2r1 |
A |
G |
2: 60,255,694 (GRCm39) |
|
probably null |
Het |
| Plpp1 |
T |
C |
13: 112,971,519 (GRCm39) |
I62T |
probably benign |
Het |
| Polr3g |
G |
A |
13: 81,842,892 (GRCm39) |
T41I |
probably damaging |
Het |
| Ptch2 |
T |
C |
4: 116,953,630 (GRCm39) |
|
probably benign |
Het |
| Sema4g |
A |
T |
19: 44,986,104 (GRCm39) |
H315L |
probably benign |
Het |
| Setd1b |
G |
T |
5: 123,295,723 (GRCm39) |
S1097I |
unknown |
Het |
| Sfxn4 |
A |
G |
19: 60,839,383 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
T |
C |
5: 35,857,128 (GRCm39) |
E1237G |
probably damaging |
Het |
| Slc25a38 |
A |
T |
9: 119,952,709 (GRCm39) |
N287I |
probably benign |
Het |
| Slc25a48 |
A |
G |
13: 56,596,811 (GRCm39) |
T31A |
probably benign |
Het |
| Slc6a12 |
G |
A |
6: 121,333,877 (GRCm39) |
V238I |
probably damaging |
Het |
| Slc8b1 |
A |
G |
5: 120,669,220 (GRCm39) |
|
probably benign |
Het |
| Slco4c1 |
A |
C |
1: 96,795,584 (GRCm39) |
V158G |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,063,803 (GRCm39) |
T2208A |
probably benign |
Het |
| Srebf1 |
G |
A |
11: 60,092,502 (GRCm39) |
T843I |
probably benign |
Het |
| Srl |
A |
G |
16: 4,305,429 (GRCm39) |
W101R |
probably damaging |
Het |
| St6galnac4 |
T |
A |
2: 32,484,031 (GRCm39) |
C76* |
probably null |
Het |
| Tdrd3 |
C |
A |
14: 87,723,656 (GRCm39) |
T290K |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Trpm3 |
A |
G |
19: 22,965,176 (GRCm39) |
E1547G |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,880,484 (GRCm39) |
|
probably null |
Het |
| Usp10 |
T |
A |
8: 120,674,540 (GRCm39) |
I456K |
probably damaging |
Het |
| Usp6nl |
A |
G |
2: 6,405,134 (GRCm39) |
|
probably benign |
Het |
| Vit |
T |
A |
17: 78,932,222 (GRCm39) |
V443E |
possibly damaging |
Het |
| Whamm |
G |
A |
7: 81,235,972 (GRCm39) |
V392I |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,465,554 (GRCm39) |
K1904R |
probably damaging |
Het |
| Zfp352 |
A |
T |
4: 90,112,927 (GRCm39) |
T356S |
probably 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 |
|
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 |
|
|
R7211:Aqr
|
UTSW |
2 |
113,965,204 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- TTTCAAGGGACATTGGCACGGC -3'
(R):5'- GGACAGTTCAGTCACGGGGTATTG -3'
Sequencing Primer
(F):5'- TGCCAAGTTCACTGGAGCTG -3'
(R):5'- CATTGACTTGCCATTTCTATGAAGG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation