Incidental Mutation 'IGL02090:Gabarapl2'
ID279434
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gabarapl2
Ensembl Gene ENSMUSG00000031950
Gene Namegamma-aminobutyric acid (GABA) A receptor-associated protein-like 2
Synonyms2900019O08Rik, Gef2, 0610012F20Rik, GATE-16
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02090
Quality Score
Status
Chromosome8
Chromosomal Location111940703-111953612 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 111941199 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 25 (Y25C)
Ref Sequence ENSEMBL: ENSMUSP00000034428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034428]
Predicted Effect probably damaging
Transcript: ENSMUST00000034428
AA Change: Y25C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034428
Gene: ENSMUSG00000031950
AA Change: Y25C

DomainStartEndE-ValueType
Pfam:Atg8 13 116 6.1e-53 PFAM
Pfam:APG12 28 116 7.8e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133628
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace2 A G X: 164,185,705 T482A probably damaging Het
Adh1 T C 3: 138,282,785 I173T possibly damaging Het
Apoa1 T C 9: 46,229,250 S60P possibly damaging Het
Blnk A G 19: 40,934,485 V396A probably benign Het
Borcs8 A G 8: 70,166,380 D204G probably damaging Het
Cbfa2t2 A G 2: 154,531,416 probably benign Het
Cdkal1 T G 13: 29,517,510 I319L probably benign Het
Celsr1 T A 15: 85,907,721 T2560S possibly damaging Het
Chd8 A G 14: 52,227,234 probably null Het
Cyp4f39 T C 17: 32,470,958 probably benign Het
Dnah10 A G 5: 124,789,812 N2265S probably damaging Het
Dnah5 C T 15: 28,240,041 probably benign Het
Epgn G A 5: 91,033,957 G133E probably damaging Het
Fam26e G A 10: 34,096,265 P58L probably damaging Het
Fdx1l C A 9: 21,073,470 V13F probably benign Het
Gigyf1 G A 5: 137,525,564 probably null Het
Gm6040 G A 8: 20,917,153 probably benign Het
Gm8229 T C 14: 44,366,597 L81P unknown Het
Gstz1 A G 12: 87,163,754 E137G probably benign Het
Htra1 T C 7: 130,936,378 V36A probably benign Het
Ifnlr1 T C 4: 135,705,267 V338A probably benign Het
Igsf8 A G 1: 172,312,589 probably benign Het
Khdc1a T A 1: 21,350,988 F132L probably benign Het
Kifc3 G A 8: 95,102,480 S561L probably damaging Het
Mpi T C 9: 57,550,653 T89A probably benign Het
Ncor2 A T 5: 125,034,403 M1281K probably damaging Het
Olfr1222 T C 2: 89,125,677 N18S probably benign Het
Olfr1299 G T 2: 111,664,988 C254F probably damaging Het
Olfr792 T C 10: 129,541,307 Y257H probably damaging Het
Olfr806 T A 10: 129,738,312 I202L probably benign Het
Otog G A 7: 46,300,147 G2403D probably damaging Het
Pdgfb C A 15: 80,013,983 A6S probably benign Het
Pfkm T C 15: 98,123,240 probably null Het
Plcb4 A G 2: 135,947,121 M274V probably benign Het
Ppm1m A G 9: 106,196,802 probably null Het
Rptn A G 3: 93,396,734 D458G possibly damaging Het
Sertad3 C T 7: 27,476,525 S128F probably benign Het
Sgo2b A T 8: 63,927,089 L903Q probably damaging Het
Slc15a5 C T 6: 138,043,600 R245H probably benign Het
Slc24a5 A T 2: 125,068,298 T40S probably benign Het
Smchd1 T C 17: 71,431,253 N539S possibly damaging Het
Tlr11 A G 14: 50,363,032 D825G probably damaging Het
Top3b T G 16: 16,891,470 V674G possibly damaging Het
Urb2 G A 8: 124,028,237 V228I probably benign Het
Usp24 C T 4: 106,411,426 A2061V possibly damaging Het
Wdr72 C A 9: 74,154,930 H453N possibly damaging Het
Xkr9 T C 1: 13,701,376 M372T probably damaging Het
Zc3h12d T G 10: 7,867,332 S289A probably benign Het
Zfp607b A T 7: 27,698,715 M75L possibly damaging Het
Other mutations in Gabarapl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03161:Gabarapl2 APN 8 111942536 missense probably benign 0.11
IGL03162:Gabarapl2 APN 8 111942536 missense probably benign 0.11
R0743:Gabarapl2 UTSW 8 111942505 missense probably damaging 0.99
R0884:Gabarapl2 UTSW 8 111942505 missense probably damaging 0.99
R3916:Gabarapl2 UTSW 8 111952396 missense probably benign 0.05
R3917:Gabarapl2 UTSW 8 111952396 missense probably benign 0.05
R4646:Gabarapl2 UTSW 8 111942553 missense probably damaging 0.97
R4685:Gabarapl2 UTSW 8 111942518 missense probably benign 0.01
R5289:Gabarapl2 UTSW 8 111942595 missense probably damaging 0.99
R6939:Gabarapl2 UTSW 8 111942569 nonsense probably null
Posted On2015-04-16