Incidental Mutation 'R0103:Aqr'
ID 34449
Institutional Source Beutler Lab
Gene Symbol Aqr
Ensembl Gene ENSMUSG00000040383
Gene Name aquarius
Synonyms
MMRRC Submission 038389-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0103 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 2
Chromosomal Location 114101170-114187024 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 114149016 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 313 (I313F)
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: I313F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047157
Gene: ENSMUSG00000040383
AA Change: I313F

DomainStartEndE-ValueType
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: I313F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099602
Gene: ENSMUSG00000040383
AA Change: I313F

DomainStartEndE-ValueType
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 0.8669 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 99% (84/85)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,273,951 (GRCm38) R443S probably damaging Het
Anapc1 T C 2: 128,680,452 (GRCm38) probably benign Het
Arfgap3 A T 15: 83,322,721 (GRCm38) probably benign Het
Asah2 G T 19: 32,018,977 (GRCm38) H374N probably benign Het
Avl9 G T 6: 56,736,483 (GRCm38) R242L probably benign Het
Ccdc106 C A 7: 5,057,545 (GRCm38) Q35K probably benign Het
Ccm2l G T 2: 153,067,919 (GRCm38) E64* probably null Het
Cep85l A T 10: 53,278,174 (GRCm38) D776E possibly damaging Het
Cfap52 T A 11: 67,925,125 (GRCm38) I611F possibly damaging Het
Cldn22 C T 8: 47,824,554 (GRCm38) T9M probably benign Het
Coa7 T C 4: 108,338,141 (GRCm38) L89P possibly damaging Het
Cox7a2l A T 17: 83,514,272 (GRCm38) Y2N probably damaging Het
Ctns A C 11: 73,185,311 (GRCm38) I299M probably damaging Het
Cyp27a1 A C 1: 74,735,915 (GRCm38) E301A probably benign Het
Cyp2b13 A T 7: 26,088,710 (GRCm38) K421M probably damaging Het
Cyp4f40 G T 17: 32,676,308 (GRCm38) C468F probably damaging Het
Cyp4f40 C A 17: 32,676,309 (GRCm38) C468* probably null Het
Dcun1d5 G A 9: 7,188,788 (GRCm38) C74Y probably damaging Het
Dennd4c A G 4: 86,812,446 (GRCm38) Y860C probably benign Het
Dgkz T C 2: 91,934,205 (GRCm38) T1028A probably benign Het
Dhx58 T C 11: 100,695,270 (GRCm38) T642A probably damaging Het
Dlg4 A G 11: 70,031,193 (GRCm38) Y87C probably damaging Het
Dnah6 C T 6: 73,092,172 (GRCm38) E2511K probably damaging Het
Entpd5 C A 12: 84,396,943 (GRCm38) E9* probably null Het
Fbln2 A C 6: 91,271,550 (GRCm38) I1066L probably benign Het
Fhl2 C T 1: 43,153,221 (GRCm38) R4H probably benign Het
Frmpd1 T A 4: 45,229,884 (GRCm38) I17K probably damaging Het
Gbp7 T A 3: 142,546,538 (GRCm38) N627K probably benign Het
Gm20388 A G 8: 122,269,733 (GRCm38) probably benign Het
Gnptab A G 10: 88,429,519 (GRCm38) Y331C probably damaging Het
Hdac4 T C 1: 91,975,644 (GRCm38) E521G possibly damaging Het
Hibadh T A 6: 52,557,877 (GRCm38) M173L probably benign Het
Iba57 C T 11: 59,163,613 (GRCm38) A27T probably benign Het
Itga1 T C 13: 115,016,254 (GRCm38) I211V probably benign Het
Keg1 A T 19: 12,718,916 (GRCm38) I155F possibly damaging Het
Krt84 T C 15: 101,530,236 (GRCm38) E272G probably damaging Het
Lrp2 C A 2: 69,477,040 (GRCm38) V2892L probably benign Het
Ltb A G 17: 35,195,040 (GRCm38) probably benign Het
Masp1 G A 16: 23,458,018 (GRCm38) P579L probably damaging Het
Mtor T A 4: 148,533,902 (GRCm38) M1724K probably benign Het
Myo3a T G 2: 22,544,322 (GRCm38) probably benign Het
Myo9b C T 8: 71,323,849 (GRCm38) probably benign Het
Ncor1 G T 11: 62,343,045 (GRCm38) Q444K possibly damaging Het
Nek7 A T 1: 138,544,242 (GRCm38) C53* probably null Het
Obscn G T 11: 59,062,696 (GRCm38) Y4044* probably null Het
Olfr1458 G A 19: 13,103,278 (GRCm38) R3C possibly damaging Het
Pcdh15 A T 10: 74,210,425 (GRCm38) D178V probably damaging Het
Pcsk6 T C 7: 65,929,097 (GRCm38) probably benign Het
Phxr4 T C 9: 13,431,791 (GRCm38) probably benign Het
Pkhd1 T A 1: 20,523,359 (GRCm38) D1510V probably benign Het
Pkhd1l1 T C 15: 44,597,141 (GRCm38) C4249R probably benign Het
Plxnb2 A G 15: 89,161,769 (GRCm38) Y968H possibly damaging Het
Prpf39 T C 12: 65,055,283 (GRCm38) V378A possibly damaging Het
Psd2 A G 18: 36,004,717 (GRCm38) N455S probably damaging Het
Ptch2 C A 4: 117,109,425 (GRCm38) probably benign Het
Rab4b A G 7: 27,174,502 (GRCm38) I117T probably benign Het
Rad9b A T 5: 122,331,527 (GRCm38) V348E probably damaging Het
Rcor1 T C 12: 111,109,778 (GRCm38) probably benign Het
Rhoc A T 3: 104,791,991 (GRCm38) E32V possibly damaging Het
Rnf40 T G 7: 127,600,571 (GRCm38) V925G probably damaging Het
Rptor G T 11: 119,884,967 (GRCm38) R988L probably benign Het
Slc25a32 A T 15: 39,099,897 (GRCm38) Y176* probably null Het
Slc7a1 T A 5: 148,352,426 (GRCm38) K4* probably null Het
Ss18 A C 18: 14,679,421 (GRCm38) Y38D probably damaging Het
Syt4 T A 18: 31,447,220 (GRCm38) probably benign Het
Taar4 A T 10: 23,961,406 (GRCm38) N305Y probably damaging Het
Taar7b A T 10: 24,000,294 (GRCm38) Y119F probably benign Het
Tcaf1 G T 6: 42,686,390 (GRCm38) D185E probably benign Het
Tmem138 T C 19: 10,574,952 (GRCm38) N62S possibly damaging Het
Tnfaip2 C T 12: 111,445,810 (GRCm38) T215M probably benign Het
Tnfrsf21 C T 17: 43,038,213 (GRCm38) H239Y probably benign Het
Tnfrsf25 C T 4: 152,116,948 (GRCm38) P65S possibly damaging Het
Trp53bp1 A T 2: 121,236,759 (GRCm38) S495R possibly damaging Het
Trpv3 T C 11: 73,293,979 (GRCm38) F597S probably damaging Het
Tsc22d4 A C 5: 137,747,116 (GRCm38) M1L possibly damaging Het
Ttc39a A G 4: 109,421,453 (GRCm38) probably null Het
Ttn T G 2: 76,761,226 (GRCm38) H21033P probably damaging Het
Ugt2a3 A G 5: 87,336,718 (GRCm38) V149A possibly damaging Het
Ush2a T G 1: 188,319,070 (GRCm38) I251R possibly damaging Het
Vamp4 T C 1: 162,589,539 (GRCm38) C114R possibly damaging Het
Wdr33 T C 18: 31,833,335 (GRCm38) V135A probably damaging Het
Zc3h13 T A 14: 75,330,468 (GRCm38) V1067E probably damaging Het
Zcwpw1 G A 5: 137,810,113 (GRCm38) W274* probably null Het
Zfp219 T A 14: 52,006,706 (GRCm38) H627L probably damaging Het
Other mutations in Aqr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Aqr APN 2 114,125,942 (GRCm38) missense possibly damaging 0.90
IGL00694:Aqr APN 2 114,151,525 (GRCm38) missense probably damaging 1.00
IGL02113:Aqr APN 2 114,120,027 (GRCm38) nonsense probably null
IGL02297:Aqr APN 2 114,150,481 (GRCm38) missense probably benign 0.24
IGL02380:Aqr APN 2 114,109,936 (GRCm38) missense probably damaging 1.00
IGL02410:Aqr APN 2 114,136,917 (GRCm38) missense possibly damaging 0.85
IGL02413:Aqr APN 2 114,118,780 (GRCm38) missense possibly damaging 0.87
IGL02474:Aqr APN 2 114,112,646 (GRCm38) missense probably damaging 1.00
IGL02941:Aqr APN 2 114,113,354 (GRCm38) missense probably damaging 1.00
IGL02981:Aqr APN 2 114,134,824 (GRCm38) splice site probably benign
IGL03001:Aqr APN 2 114,146,919 (GRCm38) missense probably benign
IGL03092:Aqr APN 2 114,158,943 (GRCm38) missense probably benign 0.38
IGL03222:Aqr APN 2 114,121,256 (GRCm38) missense probably damaging 1.00
capricorn UTSW 2 114,105,882 (GRCm38) missense probably damaging 1.00
Goat UTSW 2 114,157,575 (GRCm38) missense probably damaging 1.00
Pliades UTSW 2 114,132,976 (GRCm38) missense probably damaging 1.00
sagittarius UTSW 2 114,149,016 (GRCm38) missense probably damaging 1.00
Zodiac UTSW 2 114,108,109 (GRCm38) missense probably damaging 0.96
PIT4531001:Aqr UTSW 2 114,130,734 (GRCm38) missense possibly damaging 0.94
R0103:Aqr UTSW 2 114,149,016 (GRCm38) missense probably damaging 1.00
R0152:Aqr UTSW 2 114,159,010 (GRCm38) missense probably benign 0.07
R0352:Aqr UTSW 2 114,170,052 (GRCm38) missense probably damaging 1.00
R0371:Aqr UTSW 2 114,157,604 (GRCm38) missense possibly damaging 0.80
R0374:Aqr UTSW 2 114,130,611 (GRCm38) missense probably damaging 1.00
R0550:Aqr UTSW 2 114,132,976 (GRCm38) missense probably damaging 1.00
R0604:Aqr UTSW 2 114,130,604 (GRCm38) missense probably benign 0.00
R0685:Aqr UTSW 2 114,140,977 (GRCm38) missense probably damaging 1.00
R1236:Aqr UTSW 2 114,116,655 (GRCm38) missense probably damaging 1.00
R1434:Aqr UTSW 2 114,150,409 (GRCm38) missense probably damaging 1.00
R1806:Aqr UTSW 2 114,161,652 (GRCm38) missense probably damaging 1.00
R2154:Aqr UTSW 2 114,137,004 (GRCm38) missense probably damaging 1.00
R2185:Aqr UTSW 2 114,130,534 (GRCm38) critical splice donor site probably null
R2377:Aqr UTSW 2 114,140,940 (GRCm38) missense possibly damaging 0.58
R2862:Aqr UTSW 2 114,136,917 (GRCm38) missense probably damaging 1.00
R3615:Aqr UTSW 2 114,136,887 (GRCm38) missense probably damaging 1.00
R3616:Aqr UTSW 2 114,136,887 (GRCm38) missense probably damaging 1.00
R3713:Aqr UTSW 2 114,118,669 (GRCm38) splice site probably benign
R3715:Aqr UTSW 2 114,118,669 (GRCm38) splice site probably benign
R4586:Aqr UTSW 2 114,112,577 (GRCm38) missense probably benign 0.06
R4663:Aqr UTSW 2 114,161,666 (GRCm38) nonsense probably null
R4809:Aqr UTSW 2 114,175,214 (GRCm38) utr 5 prime probably benign
R4887:Aqr UTSW 2 114,150,509 (GRCm38) missense probably damaging 1.00
R4888:Aqr UTSW 2 114,150,509 (GRCm38) missense probably damaging 1.00
R4952:Aqr UTSW 2 114,109,937 (GRCm38) missense probably damaging 1.00
R4974:Aqr UTSW 2 114,113,351 (GRCm38) missense probably damaging 1.00
R5050:Aqr UTSW 2 114,170,025 (GRCm38) critical splice donor site probably null
R5050:Aqr UTSW 2 114,112,609 (GRCm38) nonsense probably null
R5213:Aqr UTSW 2 114,113,327 (GRCm38) missense probably damaging 1.00
R5263:Aqr UTSW 2 114,116,578 (GRCm38) missense probably damaging 1.00
R5470:Aqr UTSW 2 114,157,575 (GRCm38) missense probably damaging 1.00
R5488:Aqr UTSW 2 114,133,073 (GRCm38) missense probably damaging 1.00
R5489:Aqr UTSW 2 114,133,073 (GRCm38) missense probably damaging 1.00
R5567:Aqr UTSW 2 114,148,970 (GRCm38) missense probably damaging 1.00
R5570:Aqr UTSW 2 114,148,970 (GRCm38) missense probably damaging 1.00
R5641:Aqr UTSW 2 114,149,034 (GRCm38) missense probably damaging 1.00
R5685:Aqr UTSW 2 114,156,265 (GRCm38) missense possibly damaging 0.87
R5963:Aqr UTSW 2 114,126,961 (GRCm38) missense probably damaging 1.00
R5992:Aqr UTSW 2 114,143,049 (GRCm38) nonsense probably null
R6015:Aqr UTSW 2 114,175,165 (GRCm38) start codon destroyed probably null 0.53
R6253:Aqr UTSW 2 114,156,277 (GRCm38) missense possibly damaging 0.93
R6264:Aqr UTSW 2 114,109,964 (GRCm38) missense probably damaging 1.00
R6773:Aqr UTSW 2 114,148,996 (GRCm38) missense possibly damaging 0.64
R6877:Aqr UTSW 2 114,116,571 (GRCm38) nonsense probably null
R7211:Aqr UTSW 2 114,134,723 (GRCm38) missense probably benign 0.01
R7232:Aqr UTSW 2 114,105,882 (GRCm38) missense probably damaging 1.00
R7308:Aqr UTSW 2 114,104,062 (GRCm38) missense possibly damaging 0.86
R7396:Aqr UTSW 2 114,119,946 (GRCm38) nonsense probably null
R7490:Aqr UTSW 2 114,158,868 (GRCm38) critical splice donor site probably null
R7526:Aqr UTSW 2 114,108,109 (GRCm38) missense probably damaging 0.96
R7629:Aqr UTSW 2 114,114,593 (GRCm38) missense probably damaging 1.00
R7828:Aqr UTSW 2 114,149,016 (GRCm38) missense probably damaging 1.00
R8037:Aqr UTSW 2 114,161,680 (GRCm38) missense probably damaging 1.00
R8166:Aqr UTSW 2 114,113,325 (GRCm38) missense possibly damaging 0.95
R8712:Aqr UTSW 2 114,118,877 (GRCm38) missense probably damaging 1.00
R8904:Aqr UTSW 2 114,136,993 (GRCm38) missense probably damaging 0.98
R9487:Aqr UTSW 2 114,104,047 (GRCm38) missense probably benign 0.04
R9527:Aqr UTSW 2 114,101,556 (GRCm38) missense probably benign 0.02
R9664:Aqr UTSW 2 114,140,915 (GRCm38) nonsense probably null
Z1176:Aqr UTSW 2 114,109,991 (GRCm38) missense probably benign 0.25
Z1176:Aqr UTSW 2 114,108,122 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCATATTACAAAGCTGAAGTTCCAGGC -3'
(R):5'- TTTTGAAAGAGCGTAGACCCATCTTCC -3'

Sequencing Primer
(F):5'- AGTTCCAGGCTGGATCAAC -3'
(R):5'- CAGTCTGTCACAGGACAGTCTAATG -3'
Posted On 2013-05-09