Incidental Mutation 'R8712:Aqr'
| ID |
669621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aqr
|
| Ensembl Gene |
ENSMUSG00000040383 |
| Gene Name |
aquarius |
| Synonyms |
|
| MMRRC Submission |
068566-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8712 (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 G
at 113949358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 947
(Y947H)
|
| 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: Y947H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047157
Gene: ENSMUSG00000040383
AA Change: Y947H
| 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: Y947H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099602
Gene: ENSMUSG00000040383
AA Change: Y947H
| 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 |
0.2412 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (75/75) |
| 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 |
|---|
| Adamts1 |
A |
T |
16: 85,594,896 (GRCm39) |
N617K |
probably benign |
Het |
| Adnp2 |
A |
T |
18: 80,174,185 (GRCm39) |
C75S |
probably damaging |
Het |
| Agmo |
T |
C |
12: 37,407,673 (GRCm39) |
F186L |
possibly damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,749,872 (GRCm39) |
Y122C |
|
Het |
| Ahnak2 |
T |
C |
12: 112,750,709 (GRCm39) |
E71G |
|
Het |
| Aldh5a1 |
A |
G |
13: 25,102,524 (GRCm39) |
V313A |
probably damaging |
Het |
| Ankib1 |
C |
A |
5: 3,822,643 (GRCm39) |
C21F |
probably benign |
Het |
| Atp1a2 |
T |
A |
1: 172,103,547 (GRCm39) |
Y991F |
probably benign |
Het |
| Atp8b3 |
G |
A |
10: 80,365,923 (GRCm39) |
T309M |
possibly damaging |
Het |
| Blzf1 |
T |
A |
1: 164,125,859 (GRCm39) |
D259V |
possibly damaging |
Het |
| Cacng5 |
T |
C |
11: 107,772,510 (GRCm39) |
I113V |
probably benign |
Het |
| Catsper3 |
T |
C |
13: 55,953,657 (GRCm39) |
M269T |
probably benign |
Het |
| Ccdc142 |
A |
C |
6: 83,079,233 (GRCm39) |
Y190S |
probably damaging |
Het |
| Ccdc159 |
C |
A |
9: 21,845,051 (GRCm39) |
Q306K |
probably benign |
Het |
| Ccdc180 |
A |
T |
4: 45,920,842 (GRCm39) |
|
probably null |
Het |
| Cebpz |
A |
G |
17: 79,229,081 (GRCm39) |
F955S |
possibly damaging |
Het |
| Cftr |
C |
T |
6: 18,274,696 (GRCm39) |
T938I |
probably damaging |
Het |
| Col28a1 |
T |
C |
6: 8,013,133 (GRCm39) |
K973R |
probably benign |
Het |
| Cyp2c29 |
T |
C |
19: 39,310,138 (GRCm39) |
|
probably benign |
Het |
| Ddx1 |
A |
G |
12: 13,293,859 (GRCm39) |
|
probably benign |
Het |
| Duox2 |
A |
C |
2: 122,119,826 (GRCm39) |
Y867* |
probably null |
Het |
| Ereg |
T |
C |
5: 91,237,013 (GRCm39) |
Y111H |
possibly damaging |
Het |
| Esrrb |
T |
A |
12: 86,565,724 (GRCm39) |
L417Q |
probably damaging |
Het |
| Fbxw7 |
G |
A |
3: 84,859,684 (GRCm39) |
R2H |
unknown |
Het |
| Galnt6 |
C |
T |
15: 100,592,501 (GRCm39) |
V569I |
probably benign |
Het |
| Gm14226 |
G |
A |
2: 154,866,094 (GRCm39) |
C17Y |
unknown |
Het |
| Gpr150 |
T |
G |
13: 76,204,642 (GRCm39) |
D101A |
probably damaging |
Het |
| Grm1 |
A |
T |
10: 10,565,296 (GRCm39) |
L1004Q |
probably benign |
Het |
| Gtf2a1l |
T |
A |
17: 89,022,351 (GRCm39) |
D447E |
probably damaging |
Het |
| Gtf2ird1 |
C |
T |
5: 134,444,064 (GRCm39) |
V64M |
probably damaging |
Het |
| Ifi206 |
A |
T |
1: 173,308,074 (GRCm39) |
W641R |
|
Het |
| Ifi214 |
T |
A |
1: 173,355,486 (GRCm39) |
E107D |
possibly damaging |
Het |
| Kif19a |
T |
C |
11: 114,675,599 (GRCm39) |
V357A |
probably damaging |
Het |
| Klhdc7b |
T |
A |
15: 89,271,025 (GRCm39) |
S636T |
probably benign |
Het |
| Klhl25 |
C |
T |
7: 75,515,420 (GRCm39) |
R109C |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,853,124 (GRCm39) |
E835G |
probably benign |
Het |
| Marchf1 |
A |
G |
8: 66,921,000 (GRCm39) |
K226E |
probably damaging |
Het |
| Mcpt1 |
T |
C |
14: 56,256,170 (GRCm39) |
|
probably benign |
Het |
| Myrf |
C |
A |
19: 10,192,434 (GRCm39) |
R639L |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,604 (GRCm39) |
H544R |
possibly damaging |
Het |
| Nccrp1 |
T |
C |
7: 28,245,769 (GRCm39) |
I132V |
probably benign |
Het |
| Nprl3 |
C |
T |
11: 32,187,334 (GRCm39) |
V333I |
possibly damaging |
Het |
| Or13a25 |
C |
T |
7: 140,248,052 (GRCm39) |
S277L |
possibly damaging |
Het |
| Or14n1-ps1 |
T |
C |
7: 86,092,923 (GRCm39) |
S245P |
probably damaging |
Het |
| Or2o1 |
T |
C |
11: 49,051,297 (GRCm39) |
M152T |
probably benign |
Het |
| Or2y1 |
T |
A |
11: 49,385,671 (GRCm39) |
S104T |
probably benign |
Het |
| Or4b1d |
A |
T |
2: 89,969,114 (GRCm39) |
I123N |
probably damaging |
Het |
| Or4f62 |
A |
T |
2: 111,986,934 (GRCm39) |
I213F |
probably damaging |
Het |
| Or52h1 |
T |
C |
7: 103,829,025 (GRCm39) |
N197D |
probably damaging |
Het |
| Or56a41 |
C |
A |
7: 104,741,808 (GRCm39) |
V73F |
possibly damaging |
Het |
| Or8c15 |
T |
C |
9: 38,121,099 (GRCm39) |
V248A |
probably benign |
Het |
| Or8d6 |
T |
C |
9: 39,853,891 (GRCm39) |
S112P |
probably damaging |
Het |
| Otx2 |
A |
G |
14: 48,896,521 (GRCm39) |
M179T |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,265,309 (GRCm39) |
|
probably benign |
Het |
| Ppfia3 |
T |
A |
7: 45,011,129 (GRCm39) |
T34S |
probably benign |
Het |
| Prkcsh |
T |
C |
9: 21,924,375 (GRCm39) |
Y502H |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,301,775 (GRCm39) |
E937G |
probably damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,600,976 (GRCm39) |
I1661N |
unknown |
Het |
| Rhobtb1 |
T |
A |
10: 69,106,587 (GRCm39) |
M446K |
probably damaging |
Het |
| Sall3 |
T |
C |
18: 81,017,236 (GRCm39) |
I231V |
probably benign |
Het |
| Slc12a9 |
C |
T |
5: 137,325,916 (GRCm39) |
V270I |
probably damaging |
Het |
| Slc6a15 |
A |
G |
10: 103,225,112 (GRCm39) |
K67E |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,380,646 (GRCm39) |
D524G |
probably benign |
Het |
| Smpdl3a |
A |
G |
10: 57,687,526 (GRCm39) |
D418G |
probably benign |
Het |
| Sox6 |
T |
C |
7: 115,196,743 (GRCm39) |
T296A |
probably benign |
Het |
| Ssu2 |
T |
C |
6: 112,361,399 (GRCm39) |
E19G |
probably damaging |
Het |
| Tctn3 |
T |
C |
19: 40,600,170 (GRCm39) |
N90S |
probably damaging |
Het |
| Tex24 |
A |
G |
8: 27,834,652 (GRCm39) |
Q60R |
possibly damaging |
Het |
| Tlcd1 |
T |
A |
11: 78,070,470 (GRCm39) |
*128R |
probably null |
Het |
| Tti1 |
A |
C |
2: 157,834,930 (GRCm39) |
L1010R |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,567,682 (GRCm39) |
L27737P |
probably damaging |
Het |
| Ubqln5 |
T |
A |
7: 103,778,322 (GRCm39) |
K167N |
probably benign |
Het |
| Unkl |
A |
G |
17: 25,450,689 (GRCm39) |
I492V |
possibly damaging |
Het |
| Vmn1r8 |
G |
A |
6: 57,013,665 (GRCm39) |
V239I |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,811,397 (GRCm39) |
L494I |
probably benign |
Het |
| Vmn2r54 |
G |
T |
7: 12,369,877 (GRCm39) |
T62K |
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 |
|
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 |
|
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'- AGCACCCTTCAGCGATTTC -3'
(R):5'- AGAATGGGCTTAATCTCATCAGTG -3'
Sequencing Primer
(F):5'- AGCGATTTCCATGTCTTCCTCATAAG -3'
(R):5'- TAATCTCATCAGTGGCTGCACAGAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation