Incidental Mutation 'R2219:Rab3gap2'
ID 241304
Institutional Source Beutler Lab
Gene Symbol Rab3gap2
Ensembl Gene ENSMUSG00000039318
Gene Name RAB3 GTPase activating protein subunit 2
Synonyms 1110059F07Rik
MMRRC Submission 040221-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2219 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 184936314-185018956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 185008113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 1056 (G1056E)
Ref Sequence ENSEMBL: ENSMUSP00000141608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069652] [ENSMUST00000194740]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000069652
AA Change: G1076E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066325
Gene: ENSMUSG00000039318
AA Change: G1076E

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: ENSMUST00000193482
Predicted Effect probably damaging
Transcript: ENSMUST00000194740
AA Change: G1056E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141608
Gene: ENSMUSG00000039318
AA Change: G1056E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195534
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik A G 7: 42,095,769 (GRCm39) Y160H probably damaging Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adgre1 T A 17: 57,708,912 (GRCm39) N34K possibly damaging Het
Ago2 T A 15: 73,018,260 (GRCm39) E59D probably benign Het
Akap8l G T 17: 32,553,605 (GRCm39) Q372K probably benign Het
Aox1 A G 1: 58,388,289 (GRCm39) probably null Het
Apc2 T C 10: 80,144,943 (GRCm39) V618A probably benign Het
Cacna1d A T 14: 29,764,047 (GRCm39) C2140S probably damaging Het
Cadps2 A G 6: 23,410,831 (GRCm39) L671P probably damaging Het
Capn9 C T 8: 125,335,898 (GRCm39) R529* probably null Het
Ccdc180 T A 4: 45,944,949 (GRCm39) N1452K probably damaging Het
Cdh5 A T 8: 104,869,538 (GRCm39) I755F possibly damaging Het
Cdkal1 T A 13: 29,538,741 (GRCm39) M473L probably benign Het
Cfap65 T C 1: 74,943,184 (GRCm39) I1614V probably damaging Het
Champ1 A G 8: 13,930,017 (GRCm39) H725R probably damaging Het
Cntnap5a A T 1: 116,508,369 (GRCm39) T1294S possibly damaging Het
Cops8 A C 1: 90,534,341 (GRCm39) N94T probably benign Het
Cpne7 G T 8: 123,851,177 (GRCm39) V155L probably benign Het
Dhx29 T C 13: 113,089,338 (GRCm39) V703A probably damaging Het
Dhx30 A G 9: 109,916,703 (GRCm39) L575P probably damaging Het
Dmc1 T A 15: 79,469,327 (GRCm39) H156L possibly damaging Het
Dnmt3a A G 12: 3,899,654 (GRCm39) probably benign Het
Dst C G 1: 34,209,514 (GRCm39) L869V probably damaging Het
Eif3d A T 15: 77,849,142 (GRCm39) M180K probably benign Het
Erbb3 T C 10: 128,405,740 (GRCm39) T1173A probably damaging Het
Fat4 A T 3: 39,064,364 (GRCm39) K4773N probably damaging Het
Fbn2 G A 18: 58,186,035 (GRCm39) P1771L possibly damaging Het
Fer1l4 T G 2: 155,873,684 (GRCm39) Y1207S probably damaging Het
Fermt2 G A 14: 45,713,354 (GRCm39) T87I probably benign Het
Fpr3 T A 17: 18,191,644 (GRCm39) M305K possibly damaging Het
Fzd2 A G 11: 102,496,249 (GRCm39) E231G probably benign Het
Ggcx T C 6: 72,404,965 (GRCm39) Y458H probably benign Het
Ggt7 A G 2: 155,337,639 (GRCm39) S504P probably damaging Het
Gm4884 A G 7: 40,692,910 (GRCm39) H293R possibly damaging Het
Gm5475 A G 15: 100,322,094 (GRCm39) probably benign Het
Gm5930 A T 14: 44,573,993 (GRCm39) L115M probably damaging Het
Itln1 T A 1: 171,359,115 (GRCm39) T122S probably damaging Het
Itpr3 T A 17: 27,334,027 (GRCm39) L2033Q probably benign Het
Lama2 T C 10: 26,919,565 (GRCm39) D2222G probably damaging Het
Lars2 T C 9: 123,247,845 (GRCm39) L334P probably damaging Het
Ly9 T C 1: 171,425,249 (GRCm39) probably null Het
Man1a T C 10: 53,853,145 (GRCm39) I324M probably damaging Het
Mast3 T C 8: 71,233,607 (GRCm39) E994G probably damaging Het
Mettl21a A T 1: 64,655,442 (GRCm39) V46E probably damaging Het
Mmp15 A G 8: 96,096,801 (GRCm39) D398G probably benign Het
Mybpc1 T A 10: 88,391,540 (GRCm39) D319V probably damaging Het
Or10ad1c T A 15: 98,084,848 (GRCm39) K277* probably null Het
Or4a47 A T 2: 89,665,769 (GRCm39) D173E probably damaging Het
Or4a78 A T 2: 89,498,211 (GRCm39) N6K possibly damaging Het
Or4c35 G A 2: 89,808,256 (GRCm39) V45I possibly damaging Het
Or4f61 A T 2: 111,922,752 (GRCm39) I98N probably damaging Het
Or5b113 T A 19: 13,342,901 (GRCm39) I303N possibly damaging Het
Or5p5 G A 7: 107,414,429 (GRCm39) V213I probably benign Het
Or9m1 A C 2: 87,733,269 (GRCm39) Y250* probably null Het
Otogl C T 10: 107,692,838 (GRCm39) C882Y probably damaging Het
Parp10 A G 15: 76,117,783 (GRCm39) Y868H probably damaging Het
Pick1 T A 15: 79,123,899 (GRCm39) I90N probably damaging Het
Piezo1 C T 8: 123,218,227 (GRCm39) V1170I probably benign Het
Pim3 G A 15: 88,747,115 (GRCm39) V54I possibly damaging Het
Pinlyp T C 7: 24,245,433 (GRCm39) probably benign Het
Pira12 A T 7: 3,900,488 (GRCm39) N87K probably benign Het
Ppfia3 G A 7: 45,004,314 (GRCm39) Q473* probably null Het
Ralgapa2 G A 2: 146,263,599 (GRCm39) T706I probably benign Het
Reln T C 5: 22,177,045 (GRCm39) T1874A possibly damaging Het
Rftn1 C A 17: 50,476,173 (GRCm39) M1I probably null Het
Ros1 T A 10: 52,042,175 (GRCm39) Q250L probably damaging Het
Slc11a1 T A 1: 74,419,824 (GRCm39) F166I probably damaging Het
Slc17a9 A G 2: 180,373,755 (GRCm39) T59A probably benign Het
Slc26a5 T C 5: 22,028,476 (GRCm39) K364R probably damaging Het
Slitrk2 T C X: 65,698,754 (GRCm39) I415T probably damaging Het
Stom A G 2: 35,211,613 (GRCm39) I136T possibly damaging Het
Strc G T 2: 121,195,004 (GRCm39) P1728T probably damaging Het
Telo2 C A 17: 25,322,673 (GRCm39) V640F probably benign Het
Tg T C 15: 66,553,782 (GRCm39) V399A probably benign Het
Tmem214 A G 5: 31,030,975 (GRCm39) K383E possibly damaging Het
Tomm40l A T 1: 171,049,550 (GRCm39) L13* probably null Het
Tonsl A T 15: 76,518,840 (GRCm39) N526K probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tymp T A 15: 89,258,965 (GRCm39) M240L probably benign Het
Ubr2 A T 17: 47,296,968 (GRCm39) S271T possibly damaging Het
Uggt2 A T 14: 119,312,749 (GRCm39) N353K probably damaging Het
Ugt2b35 T A 5: 87,151,191 (GRCm39) F266I possibly damaging Het
Vmn2r103 C T 17: 20,013,909 (GRCm39) R234W probably damaging Het
Zfp109 C A 7: 23,927,886 (GRCm39) D508Y probably damaging Het
Zfp623 T C 15: 75,819,379 (GRCm39) S112P possibly damaging Het
Zfp735 A G 11: 73,601,851 (GRCm39) N265S possibly damaging Het
Zfp879 A G 11: 50,724,094 (GRCm39) C321R probably damaging Het
Other mutations in Rab3gap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Rab3gap2 APN 1 184,971,067 (GRCm39) missense probably damaging 1.00
IGL01620:Rab3gap2 APN 1 184,936,523 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CATGCCTGCAGGGACTTTTC -3'
(R):5'- ATGTCCTTAAAGCAGCACTCTC -3'

Sequencing Primer
(F):5'- ATGTGCACCATGTGTAAGCC -3'
(R):5'- AAAGCAGCACTCTCTTTCTGTTC -3'
Posted On 2014-10-15