Incidental Mutation 'IGL03161:Gabarapl2'
ID411429
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 #IGL03161
Quality Score
Status
Chromosome8
Chromosomal Location111940703-111953612 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111942536 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 42 (V42D)
Ref Sequence ENSEMBL: ENSMUSP00000034428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034428]
Predicted Effect probably benign
Transcript: ENSMUST00000034428
AA Change: V42D

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000034428
Gene: ENSMUSG00000031950
AA Change: V42D

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210010C04Rik A T 6: 41,034,306 H47Q probably damaging Het
4930579G24Rik T C 3: 79,629,186 probably benign Het
Abtb2 G T 2: 103,567,454 R243L probably benign Het
Adamts12 A G 15: 11,292,082 E871G possibly damaging Het
Ascc3 A T 10: 50,618,072 N201I probably damaging Het
Aste1 A T 9: 105,396,672 H37L probably damaging Het
Atp1a2 T A 1: 172,278,862 probably benign Het
Cand2 C A 6: 115,792,737 T836K probably benign Het
Ccdc151 A G 9: 22,002,315 S54P probably benign Het
Dnah7c G A 1: 46,467,296 A178T probably benign Het
Dnm2 A G 9: 21,485,724 probably benign Het
Dock3 T C 9: 107,023,788 D326G probably damaging Het
Fignl1 A C 11: 11,802,680 M125R probably benign Het
Hivep2 T C 10: 14,143,356 V1957A probably damaging Het
Hps1 T C 19: 42,767,271 E172G probably damaging Het
Il16 T C 7: 83,722,499 D33G probably damaging Het
Lamb1 A G 12: 31,326,256 N1542D probably benign Het
Mllt6 T C 11: 97,667,151 Y179H probably benign Het
Muc4 T C 16: 32,751,948 S609P possibly damaging Het
Nacad G A 11: 6,600,378 Q938* probably null Het
Olfr1184 G A 2: 88,487,448 A239T probably benign Het
Olfr1295 T C 2: 111,565,331 I38V possibly damaging Het
Pik3c3 C T 18: 30,293,707 T292I probably benign Het
Slit3 T C 11: 35,700,414 V1351A probably benign Het
Spg7 T C 8: 123,087,331 M443T probably damaging Het
Tcof1 A G 18: 60,833,488 S344P possibly damaging Het
Tex37 T C 6: 70,913,535 E91G probably benign Het
Tm4sf5 T A 11: 70,510,272 S105T probably benign Het
Tmem119 A G 5: 113,794,900 V280A possibly damaging Het
Trbv20 A T 6: 41,188,823 I61L probably benign Het
Trip12 T C 1: 84,761,132 probably benign Het
Vmn1r32 T A 6: 66,553,220 M191L possibly damaging Het
Vta1 A T 10: 14,667,972 H219Q possibly damaging Het
Other mutations in Gabarapl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02090:Gabarapl2 APN 8 111941199 missense probably damaging 1.00
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 On2016-08-02