Incidental Mutation 'R7201:Rab3gap2'
ID 560271
Institutional Source Beutler Lab
Gene Symbol Rab3gap2
Ensembl Gene ENSMUSG00000039318
Gene Name RAB3 GTPase activating protein subunit 2
Synonyms 1110059F07Rik
MMRRC Submission 045279-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7201 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 184936314-185018956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 184999388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 999 (Y999C)
Ref Sequence ENSEMBL: ENSMUSP00000066325 (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: Y999C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066325
Gene: ENSMUSG00000039318
AA Change: Y999C

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 probably benign
Transcript: ENSMUST00000194740
AA Change: Y979C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141608
Gene: ENSMUSG00000039318
AA Change: Y979C

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (80/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,153,300 (GRCm39) T903A probably benign Het
Acin1 A T 14: 54,902,356 (GRCm39) S479T possibly damaging Het
Actr6 A T 10: 89,548,374 (GRCm39) D370E probably benign Het
Adgrl3 T C 5: 81,872,069 (GRCm39) F921S probably damaging Het
Ankmy1 A T 1: 92,814,546 (GRCm39) H320Q possibly damaging Het
Arhgef5 C T 6: 43,250,166 (GRCm39) Q306* probably null Het
Art4 A T 6: 136,831,547 (GRCm39) V198E probably benign Het
Asph G A 4: 9,474,917 (GRCm39) R686W probably damaging Het
Atg7 A G 6: 114,754,018 (GRCm39) H724R probably damaging Het
BC034090 A G 1: 155,117,680 (GRCm39) V146A probably damaging Het
Bcl2a1d T A 9: 88,613,639 (GRCm39) Q45L probably damaging Het
Bmal1 T A 7: 112,884,349 (GRCm39) M122K probably damaging Het
Cd28 G T 1: 60,802,332 (GRCm39) E84* probably null Het
Ceacam3 G A 7: 16,892,163 (GRCm39) W302* probably null Het
Cerkl T C 2: 79,163,934 (GRCm39) N462S probably benign Het
Cisd2 A T 3: 135,116,974 (GRCm39) L39H probably damaging Het
Col11a1 C A 3: 113,883,806 (GRCm39) T225K unknown Het
Col15a1 A T 4: 47,307,752 (GRCm39) Y1178F possibly damaging Het
Cul4a T C 8: 13,192,991 (GRCm39) S630P probably damaging Het
Cyp2c38 T A 19: 39,390,220 (GRCm39) I327F probably damaging Het
Cyp3a25 A C 5: 145,928,257 (GRCm39) S263A probably benign Het
Cyp3a25 T A 5: 145,939,868 (GRCm39) L46F probably benign Het
Dmrta1 T A 4: 89,580,408 (GRCm39) L456* probably null Het
Dnah12 T C 14: 26,536,579 (GRCm39) L2165P probably benign Het
Dsg1a C A 18: 20,461,368 (GRCm39) S253R probably damaging Het
Egln2 A C 7: 26,859,744 (GRCm39) I323S probably damaging Het
Fam171b A G 2: 83,708,574 (GRCm39) T359A probably damaging Het
Fcgr2b G T 1: 170,790,966 (GRCm39) Q276K probably benign Het
Fcrl2 C T 3: 87,159,934 (GRCm39) C440Y probably damaging Het
Fmnl2 T C 2: 52,963,666 (GRCm39) V266A unknown Het
Glo1 A T 17: 30,816,828 (GRCm39) D109E probably benign Het
Grin3b A G 10: 79,809,912 (GRCm39) R473G possibly damaging Het
Ica1 G A 6: 8,644,015 (GRCm39) L425F probably damaging Het
Iho1 A T 9: 108,281,974 (GRCm39) D571E probably damaging Het
Ilrun A C 17: 28,013,044 (GRCm39) probably null Het
Kcnq5 T C 1: 21,473,099 (GRCm39) E716G possibly damaging Het
Klra17 A T 6: 129,850,306 (GRCm39) I48K possibly damaging Het
Lrrc66 G T 5: 73,787,240 (GRCm39) Q37K probably benign Het
Ly6a T A 15: 74,868,325 (GRCm39) T55S probably benign Het
Lyst T A 13: 13,883,885 (GRCm39) Y2924* probably null Het
Lyzl6 A G 11: 103,522,177 (GRCm39) Y140H probably benign Het
Mak T C 13: 41,204,916 (GRCm39) I141V possibly damaging Het
Mapk7 A G 11: 61,379,998 (GRCm39) I789T probably benign Het
Mgat4f A G 1: 134,318,206 (GRCm39) D326G possibly damaging Het
Mrpl4 T C 9: 20,918,634 (GRCm39) I123T probably benign Het
Mup18 G C 4: 61,591,573 (GRCm39) probably null Het
Myef2 T C 2: 124,938,082 (GRCm39) probably null Het
Myh7 T C 14: 55,228,402 (GRCm39) T235A possibly damaging Het
Myo18b C T 5: 112,863,325 (GRCm39) C2171Y probably damaging Het
Nat8 A T 6: 85,807,877 (GRCm39) Y85* probably null Het
Nyap1 A T 5: 137,734,524 (GRCm39) S170T probably damaging Het
Ogfr AGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,236,887 (GRCm39) probably benign Het
Or10ah1-ps1 A G 5: 143,123,553 (GRCm39) Y157H probably damaging Het
Or1e32 A G 11: 73,705,167 (GRCm39) V247A probably benign Het
Or51a25 T A 7: 102,373,692 (GRCm39) I2F probably benign Het
Papss1 T C 3: 131,305,687 (GRCm39) L244P probably damaging Het
Pibf1 A T 14: 99,433,844 (GRCm39) D597V probably damaging Het
Pmpcb T A 5: 21,942,177 (GRCm39) M1K probably null Het
Ppwd1 G A 13: 104,343,680 (GRCm39) P575L probably damaging Het
Pramel17 T A 4: 101,695,338 (GRCm39) probably null Het
Prc1 A G 7: 79,960,837 (GRCm39) Q457R possibly damaging Het
Prdm10 T C 9: 31,227,602 (GRCm39) V69A possibly damaging Het
Prkdc A G 16: 15,516,667 (GRCm39) I1014V probably benign Het
Robo3 G A 9: 37,335,626 (GRCm39) Q539* probably null Het
Rps12 A G 10: 23,661,129 (GRCm39) Y127H probably benign Het
Sar1b A G 11: 51,679,079 (GRCm39) D116G probably benign Het
Selenbp2 C T 3: 94,609,664 (GRCm39) P294L probably benign Het
Slc6a2 T C 8: 93,722,300 (GRCm39) Y516H probably damaging Het
Slit2 A G 5: 48,394,627 (GRCm39) N673S probably null Het
Snap91 A T 9: 86,672,199 (GRCm39) probably null Het
Spata31h1 T C 10: 82,127,461 (GRCm39) M1850V probably benign Het
Srpk2 A G 5: 23,712,626 (GRCm39) F653L possibly damaging Het
Supt5 A T 7: 28,016,213 (GRCm39) S824T probably benign Het
Taar7a A G 10: 23,868,358 (GRCm39) V341A probably benign Het
Tmem52 G A 4: 155,554,778 (GRCm39) G134R probably damaging Het
Ush2a A G 1: 188,606,951 (GRCm39) T3949A probably benign Het
Usp32 GAACAAGTCCACAACAA GAACAA 11: 84,913,681 (GRCm39) probably null Het
Vmn1r173 A T 7: 23,401,583 (GRCm39) probably benign Het
Vmn2r118 G A 17: 55,915,496 (GRCm39) R485* probably null Het
Vwce A G 19: 10,615,479 (GRCm39) E120G possibly damaging Het
Zfp143 T C 7: 109,692,287 (GRCm39) V566A possibly 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
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
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'- CACGAAGTTTCCCTGAGGTG -3'
(R):5'- CCTGTCTCCAAGGAAGTAAATGTG -3'

Sequencing Primer
(F):5'- TGTCAGAGGTGGAGATAGACC -3'
(R):5'- CATCCATAGGTTCCATACTGAGTGG -3'
Posted On 2019-06-26