Incidental Mutation 'R2154:Aqr'
| ID |
234591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aqr
|
| Ensembl Gene |
ENSMUSG00000040383 |
| Gene Name |
aquarius |
| Synonyms |
|
| MMRRC Submission |
040157-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2154 (G1)
|
| Quality Score |
176 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
113931642-114005788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 113967485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 510
(M510R)
|
| 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: M510R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047157
Gene: ENSMUSG00000040383
AA Change: M510R
| 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: M510R
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099602
Gene: ENSMUSG00000040383
AA Change: M510R
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,208,959 (GRCm39) |
E363G |
probably benign |
Het |
| Abca3 |
A |
G |
17: 24,596,693 (GRCm39) |
Y382C |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,183,000 (GRCm39) |
I1019T |
probably benign |
Het |
| Acox3 |
A |
T |
5: 35,762,568 (GRCm39) |
S481C |
probably damaging |
Het |
| Ankrd7 |
T |
A |
6: 18,870,030 (GRCm39) |
M261K |
probably benign |
Het |
| Arpc1a |
A |
T |
5: 145,029,369 (GRCm39) |
T56S |
probably benign |
Het |
| Asap2 |
A |
T |
12: 21,162,084 (GRCm39) |
T14S |
probably damaging |
Het |
| Aspg |
A |
G |
12: 112,087,408 (GRCm39) |
E288G |
probably benign |
Het |
| Atp2c2 |
A |
G |
8: 120,482,841 (GRCm39) |
N901S |
probably benign |
Het |
| Cabcoco1 |
A |
G |
10: 68,267,092 (GRCm39) |
L205P |
probably damaging |
Het |
| Cant1 |
A |
G |
11: 118,302,263 (GRCm39) |
L18P |
probably damaging |
Het |
| Cdca2 |
G |
A |
14: 67,914,425 (GRCm39) |
P945S |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,513,753 (GRCm39) |
K522E |
possibly damaging |
Het |
| Chek1 |
C |
A |
9: 36,635,279 (GRCm39) |
V35F |
probably damaging |
Het |
| Cpa6 |
A |
T |
1: 10,407,547 (GRCm39) |
M330K |
probably damaging |
Het |
| Creb3l4 |
G |
T |
3: 90,145,792 (GRCm39) |
N246K |
probably damaging |
Het |
| Cyp2c55 |
T |
A |
19: 39,022,819 (GRCm39) |
V319D |
probably damaging |
Het |
| Dapk1 |
T |
A |
13: 60,877,317 (GRCm39) |
S519T |
probably benign |
Het |
| Dhx38 |
T |
C |
8: 110,287,306 (GRCm39) |
S221G |
probably benign |
Het |
| Dis3l |
T |
A |
9: 64,214,545 (GRCm39) |
N981I |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,870,661 (GRCm39) |
V1467E |
probably damaging |
Het |
| Dock4 |
ACCTGCTCTGCC |
ACCTGCTCTGCCTGCTCTGCC |
12: 40,894,547 (GRCm39) |
|
probably benign |
Het |
| Dok5 |
G |
A |
2: 170,642,816 (GRCm39) |
G38D |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 64,013,821 (GRCm39) |
S631P |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,941,688 (GRCm39) |
S194C |
probably damaging |
Het |
| Fcsk |
T |
A |
8: 111,615,704 (GRCm39) |
T542S |
probably benign |
Het |
| Garem2 |
T |
C |
5: 30,313,297 (GRCm39) |
S54P |
probably damaging |
Het |
| Gdf10 |
T |
C |
14: 33,656,346 (GRCm39) |
I436T |
probably damaging |
Het |
| Gfod1 |
T |
C |
13: 43,456,946 (GRCm39) |
T10A |
possibly damaging |
Het |
| Gucy1a1 |
A |
G |
3: 82,018,458 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
G |
T |
17: 79,138,873 (GRCm39) |
Q90K |
probably benign |
Het |
| Ikzf3 |
T |
A |
11: 98,376,475 (GRCm39) |
K211* |
probably null |
Het |
| Itgam |
A |
C |
7: 127,684,749 (GRCm39) |
D373A |
probably damaging |
Het |
| Itpripl2 |
A |
G |
7: 118,089,107 (GRCm39) |
F484S |
probably damaging |
Het |
| Kat6b |
A |
T |
14: 21,718,735 (GRCm39) |
H1138L |
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,532,500 (GRCm39) |
K1213R |
probably damaging |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Mmp25 |
T |
A |
17: 23,850,048 (GRCm39) |
Y504F |
probably damaging |
Het |
| Mtf2 |
A |
G |
5: 108,228,797 (GRCm39) |
K38E |
possibly damaging |
Het |
| Myh14 |
A |
C |
7: 44,301,853 (GRCm39) |
|
probably null |
Het |
| Nedd4l |
T |
A |
18: 65,343,401 (GRCm39) |
H820Q |
probably damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,307,240 (GRCm39) |
T562A |
probably benign |
Het |
| Or8b49 |
G |
T |
9: 38,505,707 (GRCm39) |
L63F |
probably damaging |
Het |
| Pds5a |
A |
T |
5: 65,807,841 (GRCm39) |
V464E |
probably damaging |
Het |
| Peak1 |
C |
T |
9: 56,114,496 (GRCm39) |
V452M |
probably damaging |
Het |
| Phf2 |
T |
C |
13: 48,973,549 (GRCm39) |
Y372C |
unknown |
Het |
| Poc1a |
T |
A |
9: 106,162,773 (GRCm39) |
|
probably null |
Het |
| Prss33 |
C |
T |
17: 24,053,817 (GRCm39) |
V87M |
probably damaging |
Het |
| Psmc2 |
C |
G |
5: 22,008,127 (GRCm39) |
L344V |
possibly damaging |
Het |
| Ptpn12 |
C |
A |
5: 21,207,466 (GRCm39) |
Q297H |
probably damaging |
Het |
| Rabgap1 |
T |
C |
2: 37,365,453 (GRCm39) |
V242A |
probably damaging |
Het |
| Rad1 |
C |
A |
15: 10,486,721 (GRCm39) |
H39Q |
possibly damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,986 (GRCm39) |
H636R |
probably benign |
Het |
| Samd9l |
C |
T |
6: 3,372,945 (GRCm39) |
D1439N |
possibly damaging |
Het |
| Sbno1 |
A |
T |
5: 124,516,574 (GRCm39) |
D1266E |
probably benign |
Het |
| Sidt2 |
T |
C |
9: 45,856,638 (GRCm39) |
D477G |
probably damaging |
Het |
| Slc22a13 |
T |
C |
9: 119,037,753 (GRCm39) |
K125R |
probably benign |
Het |
| Slc6a1 |
G |
T |
6: 114,284,731 (GRCm39) |
G263V |
probably damaging |
Het |
| Slmap |
A |
G |
14: 26,139,402 (GRCm39) |
Y771H |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,757,299 (GRCm39) |
|
probably benign |
Het |
| Spinkl |
A |
T |
18: 44,302,194 (GRCm39) |
N32K |
probably benign |
Het |
| Stxbp1 |
T |
A |
2: 32,692,868 (GRCm39) |
I383F |
probably damaging |
Het |
| Taf3 |
C |
T |
2: 9,956,377 (GRCm39) |
E597K |
possibly damaging |
Het |
| Tln2 |
T |
C |
9: 67,209,842 (GRCm39) |
T432A |
probably damaging |
Het |
| Tmco6 |
T |
C |
18: 36,874,740 (GRCm39) |
V409A |
probably benign |
Het |
| Tstd2 |
T |
C |
4: 46,129,235 (GRCm39) |
T198A |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,063 (GRCm39) |
M84K |
probably damaging |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,965 (GRCm39) |
S2C |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,816,805 (GRCm39) |
T259S |
probably benign |
Het |
| Vmn2r70 |
A |
G |
7: 85,212,923 (GRCm39) |
S495P |
possibly damaging |
Het |
| Vmn2r97 |
A |
T |
17: 19,167,584 (GRCm39) |
R613* |
probably null |
Het |
| Yme1l1 |
T |
C |
2: 23,052,520 (GRCm39) |
L58P |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,412,511 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,466,801 (GRCm39) |
T2320A |
possibly damaging |
Het |
| Zfp407 |
T |
C |
18: 84,227,774 (GRCm39) |
D1945G |
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 |
|
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'- TAGTAAAAGTACTCAACCAATGCTC -3'
(R):5'- TGGAGATCCAGCCACTAGC -3'
Sequencing Primer
(F):5'- AGTACTCAACCAATGCTCTAAATG -3'
(R):5'- TCATGTTCAGAGCAGCACTG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation