Incidental Mutation 'IGL01620:Rab3gap2'
ID 92529
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab3gap2
Ensembl Gene ENSMUSG00000039318
Gene Name RAB3 GTPase activating protein subunit 2
Synonyms 1110059F07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01620
Quality Score
Status
Chromosome 1
Chromosomal Location 184936314-185018956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 184936523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 29 (T29A)
Ref Sequence ENSEMBL: ENSMUSP00000141608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069652] [ENSMUST00000194740]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000069652
AA Change: T29A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066325
Gene: ENSMUSG00000039318
AA Change: T29A

DomainStartEndE-ValueType
low complexity region 52 62 N/A INTRINSIC
Pfam:RAB3GAP2_N 73 497 1.3e-167 PFAM
low complexity region 667 686 N/A INTRINSIC
Pfam:RAB3GAP2_C 767 1366 3.2e-245 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191966
Predicted Effect probably benign
Transcript: ENSMUST00000194740
AA Change: T29A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141608
Gene: ENSMUSG00000039318
AA Change: T29A

DomainStartEndE-ValueType
low complexity region 52 62 N/A INTRINSIC
Pfam:RAB3GAP2_N 73 497 1.3e-157 PFAM
low complexity region 667 686 N/A INTRINSIC
Pfam:RAB3GAP2_C 766 1346 2.5e-233 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A T 15: 102,248,385 (GRCm39) V277D probably damaging Het
Akap9 T A 5: 4,010,218 (GRCm39) V325D probably benign Het
Ambra1 A G 2: 91,741,757 (GRCm39) probably null Het
Ano9 A G 7: 140,690,352 (GRCm39) L94P probably damaging Het
Atad3a G T 4: 155,830,535 (GRCm39) T521K probably damaging Het
Bckdk A G 7: 127,504,948 (GRCm39) K126E possibly damaging Het
Bdp1 A T 13: 100,220,713 (GRCm39) probably benign Het
Btbd17 T C 11: 114,686,599 (GRCm39) T26A probably benign Het
Cadps2 G A 6: 23,587,461 (GRCm39) S314L probably benign Het
Ccl8 A T 11: 82,007,435 (GRCm39) Q90L probably damaging Het
Chit1 T C 1: 134,078,257 (GRCm39) V355A probably damaging Het
Col17a1 A G 19: 47,656,978 (GRCm39) I555T possibly damaging Het
Dmwd T A 7: 18,815,159 (GRCm39) probably null Het
Dtna T C 18: 23,758,144 (GRCm39) I483T probably damaging Het
Eloc T A 1: 16,713,502 (GRCm39) probably benign Het
Emc7 T A 2: 112,295,119 (GRCm39) L177H probably damaging Het
Emsy T A 7: 98,275,831 (GRCm39) K352I probably damaging Het
Ermn T C 2: 57,942,502 (GRCm39) E76G probably benign Het
Flot1 A T 17: 36,140,763 (GRCm39) E203V possibly damaging Het
Hsd11b2 A G 8: 106,249,529 (GRCm39) K266R probably benign Het
Iqck A T 7: 118,476,901 (GRCm39) K154M probably damaging Het
Itgb5 T A 16: 33,740,168 (GRCm39) V426E probably damaging Het
Kash5 T C 7: 44,839,384 (GRCm39) D359G probably damaging Het
Kif13a T C 13: 47,018,296 (GRCm39) K53R probably benign Het
Klhl2 A T 8: 65,232,772 (GRCm39) H168Q probably damaging Het
Lpcat2b T C 5: 107,581,759 (GRCm39) Y363H probably damaging Het
Lrp6 A T 6: 134,488,225 (GRCm39) N290K probably damaging Het
Map2k3 T C 11: 60,840,873 (GRCm39) F301L possibly damaging Het
Mns1 A G 9: 72,364,195 (GRCm39) probably benign Het
Nos1 A G 5: 118,043,374 (GRCm39) probably null Het
Or1j17 T A 2: 36,578,550 (GRCm39) C179S probably damaging Het
Or52h7 T A 7: 104,214,220 (GRCm39) V264D probably damaging Het
Pask A T 1: 93,237,844 (GRCm39) H1374Q possibly damaging Het
Pik3r1 G A 13: 101,822,728 (GRCm39) A658V probably damaging Het
Ppp2r2a A T 14: 67,307,726 (GRCm39) F14I probably damaging Het
Ptprc C T 1: 137,996,148 (GRCm39) E904K possibly damaging Het
Rab11fip4 G T 11: 79,582,705 (GRCm39) D591Y possibly damaging Het
Rgs19 A G 2: 181,331,381 (GRCm39) V84A possibly damaging Het
Shisa6 T G 11: 66,108,705 (GRCm39) M391L probably benign Het
Sipa1l1 G A 12: 82,469,263 (GRCm39) G1254D probably damaging Het
Slfn8 A T 11: 82,895,059 (GRCm39) Y358* probably null Het
Taf3 G T 2: 9,957,472 (GRCm39) R232S probably benign Het
Terb2 T A 2: 122,035,338 (GRCm39) H186Q possibly damaging Het
Trav13n-4 T C 14: 53,601,473 (GRCm39) S81P probably damaging Het
Trim30d G T 7: 104,121,333 (GRCm39) P321T possibly damaging Het
Tyrp1 G T 4: 80,763,039 (GRCm39) G309* probably null Het
Vps13d C A 4: 144,821,437 (GRCm39) G2979V possibly damaging Het
Other mutations in Rab3gap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Rab3gap2 APN 1 184,971,067 (GRCm39) missense probably damaging 1.00
IGL01977:Rab3gap2 APN 1 184,999,220 (GRCm39) nonsense probably null
IGL02183:Rab3gap2 APN 1 185,003,665 (GRCm39) nonsense probably null
IGL02229:Rab3gap2 APN 1 184,991,580 (GRCm39) missense possibly damaging 0.71
IGL02231:Rab3gap2 APN 1 184,999,095 (GRCm39) splice site probably benign
IGL02506:Rab3gap2 APN 1 184,984,221 (GRCm39) splice site probably benign
IGL02618:Rab3gap2 APN 1 184,983,938 (GRCm39) missense possibly damaging 0.79
IGL02643:Rab3gap2 APN 1 184,999,197 (GRCm39) missense possibly damaging 0.69
IGL03239:Rab3gap2 APN 1 184,982,091 (GRCm39) missense probably damaging 1.00
PIT4498001:Rab3gap2 UTSW 1 185,013,882 (GRCm39) missense probably damaging 1.00
R0173:Rab3gap2 UTSW 1 184,982,104 (GRCm39) missense possibly damaging 0.51
R0372:Rab3gap2 UTSW 1 184,994,891 (GRCm39) missense possibly damaging 0.93
R0492:Rab3gap2 UTSW 1 184,984,589 (GRCm39) splice site probably benign
R0510:Rab3gap2 UTSW 1 184,992,705 (GRCm39) splice site probably benign
R0708:Rab3gap2 UTSW 1 184,982,123 (GRCm39) missense probably damaging 0.99
R0711:Rab3gap2 UTSW 1 184,982,123 (GRCm39) missense probably damaging 0.99
R1135:Rab3gap2 UTSW 1 185,008,140 (GRCm39) missense possibly damaging 0.95
R1428:Rab3gap2 UTSW 1 184,980,101 (GRCm39) missense probably damaging 1.00
R1599:Rab3gap2 UTSW 1 184,983,223 (GRCm39) missense probably benign 0.07
R1758:Rab3gap2 UTSW 1 185,016,081 (GRCm39) missense probably benign 0.13
R1903:Rab3gap2 UTSW 1 184,954,099 (GRCm39) missense probably benign
R1929:Rab3gap2 UTSW 1 185,015,739 (GRCm39) critical splice donor site probably null
R1994:Rab3gap2 UTSW 1 184,968,221 (GRCm39) missense probably damaging 1.00
R2010:Rab3gap2 UTSW 1 185,010,478 (GRCm39) missense possibly damaging 0.57
R2102:Rab3gap2 UTSW 1 185,014,586 (GRCm39) missense probably benign 0.00
R2120:Rab3gap2 UTSW 1 184,993,564 (GRCm39) missense possibly damaging 0.95
R2219:Rab3gap2 UTSW 1 185,008,113 (GRCm39) missense probably damaging 0.99
R2259:Rab3gap2 UTSW 1 184,954,056 (GRCm39) missense probably damaging 1.00
R2270:Rab3gap2 UTSW 1 185,015,739 (GRCm39) critical splice donor site probably null
R2272:Rab3gap2 UTSW 1 185,015,739 (GRCm39) critical splice donor site probably null
R3083:Rab3gap2 UTSW 1 184,936,466 (GRCm39) missense probably benign 0.00
R3776:Rab3gap2 UTSW 1 185,009,402 (GRCm39) missense probably damaging 1.00
R4050:Rab3gap2 UTSW 1 185,004,840 (GRCm39) critical splice donor site probably null
R4130:Rab3gap2 UTSW 1 184,936,494 (GRCm39) missense possibly damaging 0.51
R4176:Rab3gap2 UTSW 1 184,978,863 (GRCm39) missense probably damaging 0.99
R4296:Rab3gap2 UTSW 1 184,988,034 (GRCm39) critical splice donor site probably null
R4416:Rab3gap2 UTSW 1 185,014,544 (GRCm39) missense probably benign 0.00
R4426:Rab3gap2 UTSW 1 184,967,539 (GRCm39) missense probably damaging 1.00
R4516:Rab3gap2 UTSW 1 184,999,265 (GRCm39) missense probably benign
R4518:Rab3gap2 UTSW 1 184,999,265 (GRCm39) missense probably benign
R4891:Rab3gap2 UTSW 1 184,991,563 (GRCm39) missense probably benign 0.00
R4913:Rab3gap2 UTSW 1 184,995,026 (GRCm39) missense probably benign 0.12
R4955:Rab3gap2 UTSW 1 184,999,352 (GRCm39) intron probably benign
R5411:Rab3gap2 UTSW 1 185,009,342 (GRCm39) critical splice acceptor site probably null
R5516:Rab3gap2 UTSW 1 184,967,684 (GRCm39) missense probably benign 0.02
R5670:Rab3gap2 UTSW 1 185,009,402 (GRCm39) missense probably damaging 1.00
R5670:Rab3gap2 UTSW 1 184,954,096 (GRCm39) missense probably benign
R6380:Rab3gap2 UTSW 1 184,968,181 (GRCm39) missense probably damaging 1.00
R6533:Rab3gap2 UTSW 1 184,965,151 (GRCm39) splice site probably null
R6655:Rab3gap2 UTSW 1 184,982,208 (GRCm39) missense probably damaging 1.00
R6676:Rab3gap2 UTSW 1 185,015,607 (GRCm39) missense probably damaging 1.00
R6726:Rab3gap2 UTSW 1 184,980,062 (GRCm39) missense probably damaging 0.99
R6969:Rab3gap2 UTSW 1 184,968,209 (GRCm39) missense probably damaging 1.00
R7151:Rab3gap2 UTSW 1 184,980,250 (GRCm39) missense probably benign 0.00
R7168:Rab3gap2 UTSW 1 184,936,494 (GRCm39) missense possibly damaging 0.51
R7196:Rab3gap2 UTSW 1 185,013,864 (GRCm39) missense probably damaging 1.00
R7201:Rab3gap2 UTSW 1 184,999,388 (GRCm39) missense probably damaging 1.00
R7371:Rab3gap2 UTSW 1 184,983,265 (GRCm39) missense probably damaging 1.00
R7573:Rab3gap2 UTSW 1 185,014,579 (GRCm39) missense probably benign
R7779:Rab3gap2 UTSW 1 184,991,641 (GRCm39) missense probably damaging 0.98
R7913:Rab3gap2 UTSW 1 184,995,013 (GRCm39) missense possibly damaging 0.88
R7922:Rab3gap2 UTSW 1 184,982,117 (GRCm39) missense probably benign 0.00
R8115:Rab3gap2 UTSW 1 184,999,447 (GRCm39) missense possibly damaging 0.90
R8203:Rab3gap2 UTSW 1 184,999,376 (GRCm39) missense probably damaging 1.00
R8242:Rab3gap2 UTSW 1 184,954,050 (GRCm39) missense probably benign
R8322:Rab3gap2 UTSW 1 184,978,877 (GRCm39) missense probably benign 0.42
R8360:Rab3gap2 UTSW 1 184,999,270 (GRCm39) intron probably benign
R8515:Rab3gap2 UTSW 1 184,995,017 (GRCm39) missense probably benign 0.15
R8678:Rab3gap2 UTSW 1 184,983,281 (GRCm39) missense probably damaging 1.00
R8833:Rab3gap2 UTSW 1 184,990,722 (GRCm39) missense probably damaging 1.00
R9175:Rab3gap2 UTSW 1 185,009,360 (GRCm39) missense probably damaging 1.00
R9267:Rab3gap2 UTSW 1 184,983,331 (GRCm39) missense probably damaging 0.99
R9312:Rab3gap2 UTSW 1 185,015,684 (GRCm39) missense probably benign 0.00
R9443:Rab3gap2 UTSW 1 184,967,523 (GRCm39) missense probably damaging 1.00
R9564:Rab3gap2 UTSW 1 185,014,691 (GRCm39) missense probably damaging 1.00
R9642:Rab3gap2 UTSW 1 184,967,692 (GRCm39) missense probably benign 0.28
Z1088:Rab3gap2 UTSW 1 185,013,874 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09