Incidental Mutation 'R4952:Aqr'
ID |
382037 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aqr
|
Ensembl Gene |
ENSMUSG00000040383 |
Gene Name |
aquarius |
Synonyms |
|
MMRRC Submission |
042549-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4952 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
113931642-114005788 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 113940418 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 1243
(D1243Y)
|
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: D1243Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000047157 Gene: ENSMUSG00000040383 AA Change: D1243Y
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: D1243Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099602 Gene: ENSMUSG00000040383 AA Change: D1243Y
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: ENSMUST00000140441
|
Meta Mutation Damage Score |
0.7284 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.0%
|
Validation Efficiency |
99% (93/94) |
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
G |
5: 109,887,063 (GRCm39) |
|
probably null |
Het |
4933421I07Rik |
T |
C |
7: 42,097,083 (GRCm39) |
Y76C |
possibly damaging |
Het |
Adcy4 |
C |
T |
14: 56,016,486 (GRCm39) |
D322N |
probably damaging |
Het |
Ak9 |
A |
G |
10: 41,296,585 (GRCm39) |
M1444V |
probably benign |
Het |
Amfr |
A |
G |
8: 94,699,787 (GRCm39) |
|
probably benign |
Het |
Ankef1 |
A |
G |
2: 136,392,449 (GRCm39) |
E546G |
probably damaging |
Het |
Ankrd24 |
A |
G |
10: 81,482,982 (GRCm39) |
M977V |
probably benign |
Het |
Ap3m1 |
A |
T |
14: 21,090,134 (GRCm39) |
S5T |
probably benign |
Het |
Arhgef2 |
T |
C |
3: 88,549,769 (GRCm39) |
L591P |
probably damaging |
Het |
Arid4a |
C |
A |
12: 71,070,299 (GRCm39) |
T70K |
possibly damaging |
Het |
Asphd1 |
C |
T |
7: 126,547,857 (GRCm39) |
A149T |
probably benign |
Het |
Avpr1a |
T |
A |
10: 122,285,659 (GRCm39) |
M317K |
probably damaging |
Het |
Birc2 |
T |
C |
9: 7,836,741 (GRCm39) |
I109V |
probably damaging |
Het |
Catsperd |
A |
G |
17: 56,939,303 (GRCm39) |
Y44C |
probably damaging |
Het |
Crygb |
T |
G |
1: 65,121,268 (GRCm39) |
S20R |
probably benign |
Het |
Cyp3a25 |
T |
C |
5: 145,928,334 (GRCm39) |
N237S |
probably benign |
Het |
Dkk3 |
C |
T |
7: 111,717,558 (GRCm39) |
A304T |
probably benign |
Het |
Dst |
T |
C |
1: 34,310,503 (GRCm39) |
L4101S |
probably damaging |
Het |
Dysf |
A |
G |
6: 84,126,968 (GRCm39) |
N1407S |
possibly damaging |
Het |
Epb41 |
A |
G |
4: 131,727,581 (GRCm39) |
V265A |
probably damaging |
Het |
Faim2 |
C |
T |
15: 99,419,109 (GRCm39) |
E75K |
possibly damaging |
Het |
Fam237b |
T |
A |
5: 5,625,387 (GRCm39) |
F28I |
probably benign |
Het |
Fbn1 |
T |
A |
2: 125,159,454 (GRCm39) |
D2208V |
probably damaging |
Het |
Fbxo28 |
A |
G |
1: 182,153,950 (GRCm39) |
S129P |
probably damaging |
Het |
Fbxw14 |
T |
A |
9: 109,105,269 (GRCm39) |
I299L |
probably benign |
Het |
Fras1 |
C |
T |
5: 96,795,357 (GRCm39) |
A1050V |
probably benign |
Het |
Fyb1 |
C |
A |
15: 6,668,292 (GRCm39) |
T495K |
probably damaging |
Het |
Ghdc |
A |
T |
11: 100,659,977 (GRCm39) |
W257R |
probably damaging |
Het |
Gm10719 |
T |
C |
9: 3,018,962 (GRCm39) |
L69S |
probably benign |
Het |
Gm12250 |
G |
T |
11: 58,079,210 (GRCm39) |
|
noncoding transcript |
Het |
Gm4846 |
A |
T |
1: 166,311,503 (GRCm39) |
F452Y |
probably damaging |
Het |
Gpbp1 |
T |
C |
13: 111,577,284 (GRCm39) |
D202G |
probably damaging |
Het |
Gpd2 |
C |
A |
2: 57,197,025 (GRCm39) |
Y193* |
probably null |
Het |
Grhl2 |
G |
T |
15: 37,287,493 (GRCm39) |
R229L |
probably benign |
Het |
Gtf2a1 |
A |
G |
12: 91,542,523 (GRCm39) |
F59L |
possibly damaging |
Het |
Heatr1 |
G |
T |
13: 12,425,480 (GRCm39) |
W640L |
probably benign |
Het |
Kalrn |
A |
T |
16: 34,177,785 (GRCm39) |
|
probably null |
Het |
Keap1 |
T |
C |
9: 21,148,582 (GRCm39) |
T142A |
probably damaging |
Het |
Kpna2 |
G |
A |
11: 106,882,061 (GRCm39) |
T255M |
probably damaging |
Het |
Kpna3 |
A |
G |
14: 61,607,838 (GRCm39) |
C456R |
probably damaging |
Het |
Lama1 |
G |
A |
17: 68,074,561 (GRCm39) |
|
probably null |
Het |
Lrrc37 |
T |
C |
11: 103,505,033 (GRCm39) |
T2312A |
possibly damaging |
Het |
Mag |
C |
A |
7: 30,608,581 (GRCm39) |
E178* |
probably null |
Het |
Map3k13 |
A |
G |
16: 21,729,769 (GRCm39) |
I467V |
probably benign |
Het |
Mga |
A |
G |
2: 119,733,782 (GRCm39) |
E210G |
probably damaging |
Het |
Msi2 |
C |
T |
11: 88,257,610 (GRCm39) |
|
probably null |
Het |
Naa16 |
A |
T |
14: 79,582,525 (GRCm39) |
D521E |
probably damaging |
Het |
Nav2 |
C |
T |
7: 48,954,288 (GRCm39) |
|
probably benign |
Het |
Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
Nek5 |
T |
C |
8: 22,586,815 (GRCm39) |
K332R |
probably benign |
Het |
Nek5 |
T |
A |
8: 22,569,104 (GRCm39) |
I573L |
probably benign |
Het |
Ntn1 |
CCTTCTTCT |
CCTTCT |
11: 68,103,852 (GRCm39) |
|
probably benign |
Het |
Odad1 |
A |
C |
7: 45,591,615 (GRCm39) |
E293A |
probably damaging |
Het |
Or2w1 |
G |
A |
13: 21,317,514 (GRCm39) |
V190I |
probably benign |
Het |
Or5v1b |
A |
T |
17: 37,841,641 (GRCm39) |
T258S |
possibly damaging |
Het |
Or6c204 |
T |
A |
10: 129,022,466 (GRCm39) |
T275S |
probably benign |
Het |
Or8b12b |
T |
A |
9: 37,684,360 (GRCm39) |
M135K |
probably damaging |
Het |
Orai1 |
T |
G |
5: 123,167,313 (GRCm39) |
V162G |
probably damaging |
Het |
P2rx6 |
T |
C |
16: 17,385,308 (GRCm39) |
S134P |
probably damaging |
Het |
Pappa2 |
G |
A |
1: 158,684,706 (GRCm39) |
T811I |
probably null |
Het |
Pcdhga10 |
T |
C |
18: 37,880,213 (GRCm39) |
|
probably benign |
Het |
Pex16 |
C |
T |
2: 92,209,405 (GRCm39) |
R241* |
probably null |
Het |
Plxnb1 |
T |
C |
9: 108,943,904 (GRCm39) |
F1969L |
probably damaging |
Het |
Postn |
A |
G |
3: 54,297,736 (GRCm39) |
|
probably benign |
Het |
Prdm15 |
A |
T |
16: 97,607,277 (GRCm39) |
I752N |
probably damaging |
Het |
Rasgef1c |
A |
T |
11: 49,870,339 (GRCm39) |
K468M |
probably damaging |
Het |
Rbfox1 |
A |
G |
16: 7,094,952 (GRCm39) |
S111G |
probably benign |
Het |
Rbm28 |
T |
C |
6: 29,138,597 (GRCm39) |
D405G |
probably damaging |
Het |
Rell1 |
A |
G |
5: 64,097,010 (GRCm39) |
|
probably benign |
Het |
Rfx3 |
A |
G |
19: 27,808,072 (GRCm39) |
S224P |
probably damaging |
Het |
Scarb2 |
A |
T |
5: 92,602,636 (GRCm39) |
I260K |
probably damaging |
Het |
Septin4 |
A |
G |
11: 87,458,598 (GRCm39) |
N324S |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,680,901 (GRCm39) |
F72L |
probably damaging |
Het |
Spg7 |
C |
A |
8: 123,816,910 (GRCm39) |
R534S |
probably damaging |
Het |
Stoml2 |
T |
C |
4: 43,029,589 (GRCm39) |
T164A |
probably benign |
Het |
Syt11 |
C |
T |
3: 88,669,590 (GRCm39) |
G101S |
possibly damaging |
Het |
Traj12 |
A |
G |
14: 54,444,013 (GRCm39) |
|
probably benign |
Het |
Traj7 |
A |
T |
14: 54,448,981 (GRCm39) |
|
probably benign |
Het |
Tysnd1 |
C |
T |
10: 61,537,855 (GRCm39) |
T175I |
possibly damaging |
Het |
Usp48 |
T |
G |
4: 137,334,004 (GRCm39) |
Y139* |
probably null |
Het |
Vmn2r72 |
A |
G |
7: 85,400,317 (GRCm39) |
L244P |
probably benign |
Het |
Wasf1 |
C |
A |
10: 40,812,186 (GRCm39) |
P325Q |
unknown |
Het |
Zc3h18 |
T |
A |
8: 123,137,639 (GRCm39) |
|
probably benign |
Het |
Zfp712 |
A |
G |
13: 67,188,905 (GRCm39) |
S541P |
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 |
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'- CTTTGGTTCTCATGTACAGATACTGCC -3'
(R):5'- GCTAGGTAAGCCGCTTTACG -3'
Sequencing Primer
(F):5'- ATGTACAGATACTGCCATCCTG -3'
(R):5'- TAAGCCGCTTTACGAAGTAGAC -3'
|
Posted On |
2016-04-27 |