Incidental Mutation 'R1434:Aqr'
| ID |
159359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aqr
|
| Ensembl Gene |
ENSMUSG00000040383 |
| Gene Name |
aquarius |
| Synonyms |
|
| MMRRC Submission |
039489-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1434 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
113931642-114005788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 113980890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 297
(L297Q)
|
| 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: L297Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047157
Gene: ENSMUSG00000040383
AA Change: L297Q
| 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: L297Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099602
Gene: ENSMUSG00000040383
AA Change: L297Q
| 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: ENSMUST00000131785
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184524
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.4%
|
| Validation Efficiency |
99% (73/74) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,348,959 (GRCm39) |
H851N |
probably benign |
Het |
| Adamtsl4 |
T |
C |
3: 95,588,094 (GRCm39) |
Y631C |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,758,212 (GRCm39) |
I969V |
probably benign |
Het |
| Apob |
A |
G |
12: 8,059,715 (GRCm39) |
I2699M |
probably damaging |
Het |
| Arb2a |
A |
T |
13: 77,910,041 (GRCm39) |
Y98F |
probably damaging |
Het |
| Camsap1 |
A |
G |
2: 25,835,190 (GRCm39) |
Y301H |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,905,425 (GRCm39) |
|
probably benign |
Het |
| Cd209b |
T |
A |
8: 3,973,367 (GRCm39) |
I106F |
possibly damaging |
Het |
| Cdkn1b |
T |
A |
6: 134,898,060 (GRCm39) |
W60R |
probably damaging |
Het |
| Coasy |
A |
G |
11: 100,975,822 (GRCm39) |
|
probably benign |
Het |
| Col2a1 |
T |
A |
15: 97,877,532 (GRCm39) |
Q1017L |
probably damaging |
Het |
| Cspg4b |
G |
A |
13: 113,505,026 (GRCm39) |
V510I |
possibly damaging |
Het |
| Ctnnal1 |
T |
A |
4: 56,847,971 (GRCm39) |
N56I |
probably damaging |
Het |
| Cyb561d2 |
T |
A |
9: 107,418,842 (GRCm39) |
|
probably benign |
Het |
| Dcst1 |
G |
T |
3: 89,259,826 (GRCm39) |
T632N |
probably damaging |
Het |
| Ddx1 |
C |
T |
12: 13,287,232 (GRCm39) |
V267I |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,852,050 (GRCm39) |
M1736L |
probably benign |
Het |
| Eln |
G |
A |
5: 134,758,291 (GRCm39) |
|
probably benign |
Het |
| Elp1 |
T |
A |
4: 56,781,193 (GRCm39) |
E493D |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,726,077 (GRCm39) |
D566E |
probably damaging |
Het |
| Ezh1 |
T |
C |
11: 101,085,743 (GRCm39) |
K638R |
probably damaging |
Het |
| Fdx2 |
C |
A |
9: 20,984,694 (GRCm39) |
G37W |
probably benign |
Het |
| Grin2b |
T |
C |
6: 135,820,193 (GRCm39) |
I340V |
probably benign |
Het |
| Il16 |
T |
C |
7: 83,304,520 (GRCm39) |
T671A |
probably benign |
Het |
| Kcnd2 |
T |
A |
6: 21,216,356 (GRCm39) |
M20K |
probably damaging |
Het |
| Kndc1 |
C |
T |
7: 139,502,600 (GRCm39) |
S962F |
probably damaging |
Het |
| L1td1 |
A |
G |
4: 98,626,054 (GRCm39) |
S750G |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 27,084,366 (GRCm39) |
C935R |
probably damaging |
Het |
| Lgalsl |
T |
C |
11: 20,776,418 (GRCm39) |
D158G |
possibly damaging |
Het |
| Lman1 |
A |
T |
18: 66,126,144 (GRCm39) |
|
probably null |
Het |
| Lmtk2 |
A |
G |
5: 144,111,407 (GRCm39) |
E709G |
probably damaging |
Het |
| Lrfn3 |
T |
C |
7: 30,055,352 (GRCm39) |
H531R |
possibly damaging |
Het |
| Mark3 |
A |
G |
12: 111,589,759 (GRCm39) |
|
probably benign |
Het |
| Mov10 |
T |
C |
3: 104,702,490 (GRCm39) |
E997G |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,395,157 (GRCm39) |
W2484R |
probably benign |
Het |
| Myo1g |
G |
T |
11: 6,459,372 (GRCm39) |
Q833K |
probably benign |
Het |
| Ncoa3 |
T |
A |
2: 165,897,430 (GRCm39) |
D740E |
probably benign |
Het |
| Nol12 |
A |
G |
15: 78,822,153 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,493,642 (GRCm39) |
|
probably null |
Het |
| Nsfl1c |
A |
C |
2: 151,342,666 (GRCm39) |
I79L |
probably benign |
Het |
| Or52b2 |
T |
C |
7: 104,986,468 (GRCm39) |
I152V |
probably benign |
Het |
| Or5b108 |
A |
G |
19: 13,168,662 (GRCm39) |
I210M |
probably benign |
Het |
| Or5k1 |
G |
T |
16: 58,617,811 (GRCm39) |
H133N |
probably benign |
Het |
| Osbpl8 |
A |
C |
10: 111,127,442 (GRCm39) |
E842A |
probably benign |
Het |
| Pdxk |
G |
T |
10: 78,276,645 (GRCm39) |
T310K |
probably benign |
Het |
| Phip |
T |
G |
9: 82,841,658 (GRCm39) |
K54Q |
probably damaging |
Het |
| Pklr |
A |
T |
3: 89,050,342 (GRCm39) |
D366V |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,433,848 (GRCm39) |
|
probably benign |
Het |
| Ppp4r3a |
A |
T |
12: 101,009,783 (GRCm39) |
V618E |
probably damaging |
Het |
| Prdm12 |
A |
T |
2: 31,530,319 (GRCm39) |
Q70L |
possibly damaging |
Het |
| Ptgr3 |
A |
G |
18: 84,112,596 (GRCm39) |
K91E |
probably benign |
Het |
| Ptpn21 |
A |
T |
12: 98,654,849 (GRCm39) |
M706K |
probably damaging |
Het |
| Ptprq |
A |
T |
10: 107,422,575 (GRCm39) |
F1606I |
probably damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,837,152 (GRCm39) |
|
probably null |
Het |
| Rlbp1 |
C |
A |
7: 79,029,661 (GRCm39) |
|
probably null |
Het |
| Rtp2 |
T |
C |
16: 23,746,193 (GRCm39) |
D166G |
probably benign |
Het |
| Ryr3 |
A |
C |
2: 112,475,604 (GRCm39) |
F4481V |
probably damaging |
Het |
| Scn2a |
A |
G |
2: 65,532,335 (GRCm39) |
D649G |
possibly damaging |
Het |
| Slc30a5 |
T |
A |
13: 100,939,950 (GRCm39) |
D655V |
probably damaging |
Het |
| Slco5a1 |
G |
A |
1: 12,942,132 (GRCm39) |
A838V |
probably benign |
Het |
| Spata6l |
G |
T |
19: 28,905,039 (GRCm39) |
|
probably benign |
Het |
| Srprb |
A |
G |
9: 103,067,501 (GRCm39) |
V239A |
probably damaging |
Het |
| Tceanc2 |
T |
C |
4: 107,004,837 (GRCm39) |
T104A |
probably benign |
Het |
| Tcp1 |
T |
C |
17: 13,141,493 (GRCm39) |
|
probably null |
Het |
| Unc13b |
C |
T |
4: 43,239,385 (GRCm39) |
R1056* |
probably null |
Het |
| Wdr19 |
G |
A |
5: 65,380,847 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
T |
A |
3: 5,306,919 (GRCm39) |
H48Q |
probably benign |
Het |
| Zfp787 |
T |
A |
7: 6,135,234 (GRCm39) |
H339L |
probably damaging |
Het |
| Zfp839 |
G |
T |
12: 110,827,333 (GRCm39) |
R408L |
probably benign |
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 |
|
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'- TCCCACAGTGGTTATGCACACAAG -3'
(R):5'- TGTTTTACAGCGTGGATGAGACCC -3'
Sequencing Primer
(F):5'- TGTGAACACATGGGACTACACTTC -3'
(R):5'- GGATGAGACCCTTTGTTCTCTATAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation