Incidental Mutation 'R7526:Aqr'
| ID |
582964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aqr
|
| Ensembl Gene |
ENSMUSG00000040383 |
| Gene Name |
aquarius |
| Synonyms |
|
| MMRRC Submission |
045598-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7526 (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 T
at 113938590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 1287
(H1287Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043160]
[ENSMUST00000102543]
|
| AlphaFold |
Q8CFQ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043160
AA Change: H1287Q
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000047157
Gene: ENSMUSG00000040383
AA Change: H1287Q
| 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 |
possibly damaging
Transcript: ENSMUST00000102543
AA Change: H1287Q
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099602
Gene: ENSMUSG00000040383
AA Change: H1287Q
| 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 |
|
| Meta Mutation Damage Score |
0.2152 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (74/74) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700086D15Rik |
A |
T |
11: 65,043,807 (GRCm39) |
F85I |
unknown |
Het |
| Ankrd22 |
A |
T |
19: 34,126,765 (GRCm39) |
W22R |
possibly damaging |
Het |
| Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,366,609 (GRCm39) |
E791G |
probably damaging |
Het |
| Bicd1 |
T |
G |
6: 149,415,224 (GRCm39) |
S646A |
possibly damaging |
Het |
| Bmpr1b |
A |
T |
3: 141,562,360 (GRCm39) |
Y276N |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,496,850 (GRCm39) |
H465R |
probably damaging |
Het |
| Card11 |
A |
T |
5: 140,899,184 (GRCm39) |
|
probably null |
Het |
| Ccdc9 |
A |
G |
7: 16,016,325 (GRCm39) |
L139P |
probably damaging |
Het |
| Cdk5rap3 |
A |
T |
11: 96,800,771 (GRCm39) |
M355K |
probably benign |
Het |
| Cnot2 |
A |
T |
10: 116,342,985 (GRCm39) |
V116E |
probably benign |
Het |
| Defb48 |
A |
G |
14: 63,215,280 (GRCm39) |
V32A |
possibly damaging |
Het |
| Dmkn |
A |
G |
7: 30,477,076 (GRCm39) |
D460G |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,308,241 (GRCm39) |
V2170A |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 31,009,833 (GRCm39) |
F1912I |
possibly damaging |
Het |
| Dok3 |
C |
T |
13: 55,675,306 (GRCm39) |
V71I |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,795,837 (GRCm39) |
F178Y |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,550,308 (GRCm39) |
|
probably null |
Het |
| Eogt |
A |
G |
6: 97,090,913 (GRCm39) |
F409L |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,538,110 (GRCm39) |
L218H |
probably damaging |
Het |
| Fam186a |
G |
C |
15: 99,839,796 (GRCm39) |
I2149M |
possibly damaging |
Het |
| Fat1 |
G |
A |
8: 45,476,464 (GRCm39) |
V1837I |
probably damaging |
Het |
| Flrt3 |
T |
A |
2: 140,502,126 (GRCm39) |
T501S |
probably damaging |
Het |
| Fmn1 |
A |
C |
2: 113,518,479 (GRCm39) |
E1365D |
probably damaging |
Het |
| Fzd5 |
G |
T |
1: 64,775,251 (GRCm39) |
P170Q |
probably benign |
Het |
| Gm14326 |
G |
A |
2: 177,588,298 (GRCm39) |
H233Y |
probably damaging |
Het |
| Gm19410 |
G |
A |
8: 36,257,766 (GRCm39) |
V735M |
probably damaging |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
| Gm2832 |
A |
T |
14: 41,002,919 (GRCm39) |
I143L |
|
Het |
| Greb1 |
G |
A |
12: 16,766,766 (GRCm39) |
T344I |
probably benign |
Het |
| Grik2 |
A |
T |
10: 49,399,918 (GRCm39) |
Y271N |
possibly damaging |
Het |
| Grin3b |
A |
G |
10: 79,808,885 (GRCm39) |
N212D |
probably benign |
Het |
| Hgsnat |
A |
G |
8: 26,461,077 (GRCm39) |
L187P |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,532,324 (GRCm39) |
I3152T |
probably damaging |
Het |
| Hsp90aa1 |
A |
T |
12: 110,661,728 (GRCm39) |
I96N |
unknown |
Het |
| Il18r1 |
T |
A |
1: 40,510,932 (GRCm39) |
L6I |
probably damaging |
Het |
| Ing3 |
G |
A |
6: 21,953,798 (GRCm39) |
V80I |
probably damaging |
Het |
| Kif18b |
T |
C |
11: 102,805,493 (GRCm39) |
I255V |
probably damaging |
Het |
| Kif2c |
A |
T |
4: 117,039,629 (GRCm39) |
N20K |
possibly damaging |
Het |
| Mfsd6l |
T |
C |
11: 68,448,864 (GRCm39) |
W572R |
probably damaging |
Het |
| Mybphl |
A |
G |
3: 108,281,496 (GRCm39) |
T71A |
probably benign |
Het |
| Myo7a |
G |
T |
7: 97,734,655 (GRCm39) |
T613K |
possibly damaging |
Het |
| Nfatc3 |
T |
C |
8: 106,805,715 (GRCm39) |
S195P |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,308,351 (GRCm39) |
N603S |
probably benign |
Het |
| Or52ae9 |
T |
C |
7: 103,389,607 (GRCm39) |
Y280C |
probably damaging |
Het |
| Or8k22 |
A |
T |
2: 86,163,697 (GRCm39) |
M1K |
probably null |
Het |
| Or8k37 |
A |
G |
2: 86,470,013 (GRCm39) |
I13T |
possibly damaging |
Het |
| Parp8 |
T |
C |
13: 117,031,341 (GRCm39) |
E457G |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,571,076 (GRCm39) |
F154L |
probably benign |
Het |
| Pear1 |
A |
G |
3: 87,659,875 (GRCm39) |
S704P |
probably damaging |
Het |
| Pkib |
A |
G |
10: 57,612,394 (GRCm39) |
T92A |
probably benign |
Het |
| Pnpla7 |
A |
G |
2: 24,888,678 (GRCm39) |
R376G |
possibly damaging |
Het |
| Pramel28 |
A |
T |
4: 143,692,387 (GRCm39) |
C205S |
probably benign |
Het |
| Ptprd |
T |
A |
4: 75,984,564 (GRCm39) |
E527D |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,474,337 (GRCm39) |
V469A |
probably damaging |
Het |
| Rnf148 |
G |
A |
6: 23,654,283 (GRCm39) |
Q238* |
probably null |
Het |
| Scn9a |
A |
C |
2: 66,313,990 (GRCm39) |
N1909K |
probably benign |
Het |
| Sema3c |
A |
T |
5: 17,932,594 (GRCm39) |
H699L |
possibly damaging |
Het |
| Sema3f |
A |
T |
9: 107,566,927 (GRCm39) |
C201S |
probably damaging |
Het |
| Serinc2 |
T |
A |
4: 130,152,583 (GRCm39) |
D206V |
probably benign |
Het |
| Serping1 |
A |
T |
2: 84,597,637 (GRCm39) |
S415T |
probably benign |
Het |
| Sirpb1b |
A |
T |
3: 15,613,932 (GRCm39) |
L50Q |
probably damaging |
Het |
| Slc25a22 |
T |
C |
7: 141,011,296 (GRCm39) |
E262G |
probably benign |
Het |
| Slc5a8 |
A |
G |
10: 88,738,353 (GRCm39) |
I205M |
probably damaging |
Het |
| Sod2 |
G |
T |
17: 13,226,918 (GRCm39) |
|
probably benign |
Het |
| Tec |
T |
C |
5: 72,943,362 (GRCm39) |
I118V |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,740,847 (GRCm39) |
V1212E |
probably damaging |
Het |
| Tex44 |
G |
A |
1: 86,354,237 (GRCm39) |
V49I |
probably benign |
Het |
| Tmem132d |
A |
T |
5: 127,861,205 (GRCm39) |
L972* |
probably null |
Het |
| Tpte |
G |
A |
8: 22,815,563 (GRCm39) |
|
probably null |
Het |
| Trim6 |
T |
A |
7: 103,882,039 (GRCm39) |
I456N |
probably damaging |
Het |
| Ubr4 |
G |
C |
4: 139,149,728 (GRCm39) |
V520L |
probably benign |
Het |
| Ubxn8 |
A |
T |
8: 34,123,635 (GRCm39) |
N101K |
probably benign |
Het |
| Vmn2r60 |
AG |
A |
7: 41,845,158 (GRCm39) |
|
probably null |
Het |
| Vmn2r83 |
A |
G |
10: 79,327,392 (GRCm39) |
T667A |
probably damaging |
Het |
| Zpld2 |
T |
C |
4: 133,927,384 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
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'- TAAACCACATGAGGGGTCTGG -3'
(R):5'- TAGCGGCACTCACTGACTTG -3'
Sequencing Primer
(F):5'- GGGTCTGGTGTTATTCCTACAAAAAG -3'
(R):5'- CGGCACTCACTGACTTGTTAGAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation