Incidental Mutation 'R4736:Aadat'
ID 359255
Institutional Source Beutler Lab
Gene Symbol Aadat
Ensembl Gene ENSMUSG00000057228
Gene Name aminoadipate aminotransferase
Synonyms Kat2, Kyat2, KATII, mKat-2
MMRRC Submission 041963-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4736 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 60958966-60998711 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60993140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 360 (V360A)
Ref Sequence ENSEMBL: ENSMUSP00000078436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079472] [ENSMUST00000209338]
AlphaFold Q9WVM8
Predicted Effect probably benign
Transcript: ENSMUST00000079472
AA Change: V360A

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000078436
Gene: ENSMUSG00000057228
AA Change: V360A

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 64 417 2.6e-22 PFAM
Pfam:Aminotran_MocR 124 424 7.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209338
AA Change: V367A

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.2190 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
PHENOTYPE: Homozygous null mice are viable and display earlier eye opening and development of air righting and open field crossing responses, and transient hyperactivity and neuronal abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,774,246 (GRCm39) I1145T probably damaging Het
Abhd16a A T 17: 35,320,859 (GRCm39) T436S probably benign Het
Acbd5 G T 2: 22,989,596 (GRCm39) L406F probably damaging Het
Agrn G A 4: 156,256,858 (GRCm39) T1142M probably benign Het
Aig1 C A 10: 13,677,674 (GRCm39) W106L probably damaging Het
Akr1d1 T C 6: 37,534,535 (GRCm39) probably null Het
Ap1g1 G A 8: 110,581,714 (GRCm39) D658N possibly damaging Het
Arhgap45 A G 10: 79,862,006 (GRCm39) Y520C probably damaging Het
Arhgap5 A T 12: 52,565,860 (GRCm39) M944L probably benign Het
Asic5 C T 3: 81,907,116 (GRCm39) T47I possibly damaging Het
Cabp5 A G 7: 13,134,664 (GRCm39) probably null Het
Ccr6 A T 17: 8,474,896 (GRCm39) R34* probably null Het
Cdin1 A G 2: 115,412,369 (GRCm39) I2V probably benign Het
Clec4a2 T C 6: 123,117,622 (GRCm39) I180T probably damaging Het
Cmtr1 A G 17: 29,919,216 (GRCm39) E704G possibly damaging Het
Cyth3 G A 5: 143,670,234 (GRCm39) probably null Het
Dbt T C 3: 116,332,781 (GRCm39) I200T probably damaging Het
Dennd6b T C 15: 89,069,795 (GRCm39) H468R probably benign Het
Depdc5 A G 5: 33,132,666 (GRCm39) M1237V probably benign Het
Dpp6 A G 5: 27,917,657 (GRCm39) Y616C probably damaging Het
Dync2h1 A T 9: 7,006,862 (GRCm39) S3710T probably benign Het
Eif4g3 T A 4: 137,925,408 (GRCm39) S1584T probably benign Het
Emc3 G A 6: 113,508,310 (GRCm39) T45I possibly damaging Het
Esf1 T A 2: 139,966,891 (GRCm39) D685V probably damaging Het
Ezr A G 17: 7,008,975 (GRCm39) S366P probably benign Het
Gbe1 C T 16: 70,292,141 (GRCm39) A491V probably damaging Het
Haus6 A G 4: 86,518,986 (GRCm39) probably null Het
Heca G A 10: 17,790,935 (GRCm39) Q12* probably null Het
Hpdl T C 4: 116,678,221 (GRCm39) N80S probably damaging Het
Hydin A T 8: 111,249,840 (GRCm39) Q2261L probably benign Het
Itgae G T 11: 73,005,706 (GRCm39) R290L possibly damaging Het
Kcna10 C A 3: 107,102,808 (GRCm39) L480I probably benign Het
Kif27 T C 13: 58,476,785 (GRCm39) T622A probably benign Het
Lama2 T C 10: 27,080,925 (GRCm39) N966S probably damaging Het
Mdfic A G 6: 15,741,019 (GRCm39) K38E possibly damaging Het
Med25 G A 7: 44,541,712 (GRCm39) A26V probably damaging Het
Mrpl19 A T 6: 81,941,329 (GRCm39) S77R probably damaging Het
Mtcl2 T A 2: 156,862,474 (GRCm39) D1485V probably damaging Het
Mybpc2 T C 7: 44,161,971 (GRCm39) D493G probably damaging Het
Myh4 A G 11: 67,131,746 (GRCm39) T69A probably benign Het
Myo16 G T 8: 10,423,527 (GRCm39) G288W probably damaging Het
Myo9b T C 8: 71,809,236 (GRCm39) L1815P probably damaging Het
Myom2 T A 8: 15,131,271 (GRCm39) L323Q probably damaging Het
Naip1 T C 13: 100,581,034 (GRCm39) D71G possibly damaging Het
Nktr T A 9: 121,578,805 (GRCm39) probably benign Het
Nol10 A G 12: 17,405,288 (GRCm39) K88E probably damaging Het
Nol4 T C 18: 22,852,050 (GRCm39) D505G probably damaging Het
Nynrin T A 14: 56,101,454 (GRCm39) N374K probably damaging Het
Obscn A T 11: 58,954,362 (GRCm39) L3740Q probably damaging Het
Or5g23 T C 2: 85,438,327 (GRCm39) H309R probably benign Het
Otub2 T A 12: 103,359,103 (GRCm39) L64Q probably benign Het
Pgm5 G A 19: 24,812,169 (GRCm39) A121V probably damaging Het
Pi4ka A T 16: 17,195,039 (GRCm39) Y120N probably benign Het
Rpl36al G A 12: 69,229,732 (GRCm39) A60V possibly damaging Het
Rspo4 T C 2: 151,685,054 (GRCm39) Y21H probably benign Het
Scube2 A G 7: 109,430,412 (GRCm39) V455A probably benign Het
Serpina1f T C 12: 103,659,805 (GRCm39) D159G probably damaging Het
Sf1 A G 19: 6,415,694 (GRCm39) D11G probably damaging Het
Siglecg T C 7: 43,067,332 (GRCm39) F633S probably benign Het
Skic2 A G 17: 35,067,173 (GRCm39) S89P possibly damaging Het
Slc22a13 T C 9: 119,022,698 (GRCm39) E501G probably damaging Het
Slc44a3 A G 3: 121,303,855 (GRCm39) S294P probably damaging Het
Smad3 T G 9: 63,664,842 (GRCm39) K40Q probably damaging Het
Stt3a T A 9: 36,661,008 (GRCm39) M268L probably benign Het
Taf4 A T 2: 179,566,287 (GRCm39) V817E probably damaging Het
Tgfbr1 A G 4: 47,383,835 (GRCm39) T58A probably benign Het
Trpc6 T C 9: 8,609,871 (GRCm39) V113A probably damaging Het
Ttll13 T A 7: 79,898,024 (GRCm39) probably null Het
Uba7 T C 9: 107,857,364 (GRCm39) L742P probably benign Het
Ulk2 A G 11: 61,724,261 (GRCm39) L174P probably damaging Het
Unc5c A T 3: 141,522,692 (GRCm39) Y706F probably benign Het
Unc80 A T 1: 66,688,831 (GRCm39) probably null Het
Usp34 T A 11: 23,343,749 (GRCm39) probably null Het
Vmn1r71 A T 7: 10,481,791 (GRCm39) V233D possibly damaging Het
Xpo6 T C 7: 125,739,755 (GRCm39) K439R probably benign Het
Xrn1 G T 9: 95,915,689 (GRCm39) G1271C probably damaging Het
Yes1 A T 5: 32,818,121 (GRCm39) E386V probably damaging Het
Zfp759 C A 13: 67,287,408 (GRCm39) H320N probably damaging Het
Zfp990 A T 4: 145,263,512 (GRCm39) H170L possibly damaging Het
Other mutations in Aadat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00822:Aadat APN 8 60,988,792 (GRCm39) missense probably benign 0.11
IGL01123:Aadat APN 8 60,979,648 (GRCm39) missense probably benign 0.14
IGL01524:Aadat APN 8 60,969,106 (GRCm39) missense probably damaging 0.97
IGL01767:Aadat APN 8 60,960,126 (GRCm39) missense probably damaging 0.96
IGL02824:Aadat APN 8 60,969,056 (GRCm39) missense probably benign 0.01
IGL03150:Aadat APN 8 60,996,596 (GRCm39) missense probably damaging 0.97
IGL03356:Aadat APN 8 60,984,725 (GRCm39) missense probably damaging 1.00
R0015:Aadat UTSW 8 60,987,605 (GRCm39) splice site probably benign
R0294:Aadat UTSW 8 60,987,642 (GRCm39) missense possibly damaging 0.77
R0533:Aadat UTSW 8 60,984,797 (GRCm39) splice site probably benign
R0631:Aadat UTSW 8 60,982,479 (GRCm39) splice site probably benign
R1585:Aadat UTSW 8 60,979,714 (GRCm39) missense possibly damaging 0.67
R1728:Aadat UTSW 8 60,979,746 (GRCm39) missense probably damaging 1.00
R1729:Aadat UTSW 8 60,979,746 (GRCm39) missense probably damaging 1.00
R2051:Aadat UTSW 8 60,960,173 (GRCm39) missense probably benign 0.00
R2362:Aadat UTSW 8 60,985,332 (GRCm39) splice site probably benign
R3971:Aadat UTSW 8 60,971,615 (GRCm39) missense probably damaging 1.00
R4126:Aadat UTSW 8 60,984,703 (GRCm39) missense probably benign 0.00
R4739:Aadat UTSW 8 60,993,140 (GRCm39) missense probably benign 0.30
R4750:Aadat UTSW 8 60,979,634 (GRCm39) missense probably benign 0.10
R4874:Aadat UTSW 8 60,969,147 (GRCm39) critical splice donor site probably null
R4884:Aadat UTSW 8 60,979,663 (GRCm39) missense probably damaging 1.00
R5233:Aadat UTSW 8 60,979,656 (GRCm39) missense probably benign 0.01
R5367:Aadat UTSW 8 60,979,630 (GRCm39) missense probably damaging 1.00
R6920:Aadat UTSW 8 60,982,467 (GRCm39) missense probably damaging 0.97
R7064:Aadat UTSW 8 60,984,746 (GRCm39) missense probably damaging 1.00
R7194:Aadat UTSW 8 60,979,656 (GRCm39) missense probably benign 0.01
R7316:Aadat UTSW 8 60,979,668 (GRCm39) missense probably damaging 0.98
R7634:Aadat UTSW 8 60,969,102 (GRCm39) missense probably benign 0.09
R8672:Aadat UTSW 8 60,959,179 (GRCm39) unclassified probably benign
R8711:Aadat UTSW 8 60,969,120 (GRCm39) missense probably benign 0.01
R8803:Aadat UTSW 8 60,998,290 (GRCm39) missense probably benign 0.14
R8919:Aadat UTSW 8 60,993,158 (GRCm39) missense possibly damaging 0.94
R9204:Aadat UTSW 8 60,996,566 (GRCm39) missense possibly damaging 0.90
R9207:Aadat UTSW 8 60,979,657 (GRCm39) missense probably damaging 1.00
R9313:Aadat UTSW 8 60,979,635 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- CACTGGGAACATCGATTTGGGG -3'
(R):5'- AGCCCATCTGAACTGAACTTC -3'

Sequencing Primer
(F):5'- CATCGATTTGGGGGTGTCATCAAATC -3'
(R):5'- TCCAACAAGGCATATTCCAC -3'
Posted On 2015-11-11