Incidental Mutation 'IGL02799:Racgap1'
ID 392307
Institutional Source Beutler Lab
Gene Symbol Racgap1
Ensembl Gene ENSMUSG00000023015
Gene Name Rac GTPase-activating protein 1
Synonyms gtl11, MgcRacGAP, GTPase, Band25
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02799 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 99518377-99549504 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99530628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 201 (K201E)
Ref Sequence ENSEMBL: ENSMUSP00000130876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023756] [ENSMUST00000164983] [ENSMUST00000165730] [ENSMUST00000168065] [ENSMUST00000169810] [ENSMUST00000171702] [ENSMUST00000171908]
AlphaFold Q9WVM1
Predicted Effect probably benign
Transcript: ENSMUST00000023756
AA Change: K201E

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000023756
Gene: ENSMUSG00000023015
AA Change: K201E

DomainStartEndE-ValueType
coiled coil region 35 110 N/A INTRINSIC
C1 288 336 2.44e-5 SMART
RhoGAP 361 537 3.4e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164983
Predicted Effect probably benign
Transcript: ENSMUST00000165730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165745
Predicted Effect probably benign
Transcript: ENSMUST00000168065
SMART Domains Protein: ENSMUSP00000132732
Gene: ENSMUSG00000023015

DomainStartEndE-ValueType
coiled coil region 6 81 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168834
Predicted Effect probably benign
Transcript: ENSMUST00000169810
AA Change: K201E

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000130876
Gene: ENSMUSG00000023015
AA Change: K201E

DomainStartEndE-ValueType
coiled coil region 35 110 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170369
Predicted Effect probably benign
Transcript: ENSMUST00000171702
AA Change: K201E

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000126417
Gene: ENSMUSG00000023015
AA Change: K201E

DomainStartEndE-ValueType
coiled coil region 35 110 N/A INTRINSIC
C1 288 336 2.44e-5 SMART
RhoGAP 361 537 3.4e-51 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169700
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168976
Predicted Effect probably benign
Transcript: ENSMUST00000171908
SMART Domains Protein: ENSMUSP00000128892
Gene: ENSMUSG00000023015

DomainStartEndE-ValueType
coiled coil region 35 110 N/A INTRINSIC
Meta Mutation Damage Score 0.1407 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (67/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase-activating protein (GAP) that is a compoment of the centralspindlin complex. This protein binds activated forms of Rho GTPases and stimulates GTP hydrolysis, which results in negative regulation of Rho-mediated signals. This protein plays a regulatory role in cytokinesis, cell growth, and differentiation. Alternatively spliced transcript variants have been found for this gene. There is a pseudogene for this gene on chromosome 12. [provided by RefSeq, Feb 2016]
PHENOTYPE: Embryos homozygous for a gene-trapped allele exhibit pre-implantation lethality associated with the formation of multinucleated blastomeres and failure to complete cytokinesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A G 6: 86,083,234 (GRCm39) N444S possibly damaging Het
Atp2b2 A T 6: 113,739,813 (GRCm39) Y823* probably null Het
Atp2c1 A C 9: 105,290,242 (GRCm39) probably benign Het
Capns1 A T 7: 29,891,644 (GRCm39) D133E probably benign Het
Cast A G 13: 74,884,871 (GRCm39) V361A probably damaging Het
Cd69 G A 6: 129,245,223 (GRCm39) probably benign Het
Celsr2 T A 3: 108,321,378 (GRCm39) D478V probably damaging Het
Cenpf T C 1: 189,391,849 (GRCm39) E661G probably damaging Het
Chrna1 A G 2: 73,404,985 (GRCm39) probably benign Het
Clec5a C A 6: 40,554,983 (GRCm39) V138F probably damaging Het
Ctsj T A 13: 61,151,634 (GRCm39) I95F probably benign Het
Dcaf1 T A 9: 106,735,139 (GRCm39) S696T probably benign Het
Dcp1a T C 14: 30,241,636 (GRCm39) probably null Het
Dnajc14 C T 10: 128,642,725 (GRCm39) P216S possibly damaging Het
Dst T C 1: 34,218,930 (GRCm39) I1790T possibly damaging Het
Ehmt1 A T 2: 24,705,818 (GRCm39) H789Q probably damaging Het
Exoc7 A T 11: 116,192,007 (GRCm39) L188Q probably damaging Het
Faap100 A G 11: 120,261,561 (GRCm39) L823P probably damaging Het
Fdxacb1 T A 9: 50,683,896 (GRCm39) S620T probably benign Het
Fhl2 C T 1: 43,167,562 (GRCm39) R177Q probably benign Het
Gars1 C A 6: 55,040,084 (GRCm39) T337K probably damaging Het
Ggta1 A T 2: 35,312,211 (GRCm39) F56I probably damaging Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gpr108 T A 17: 57,544,482 (GRCm39) I343F probably damaging Het
Gpr12 T A 5: 146,520,629 (GRCm39) I98F possibly damaging Het
Hk2 A G 6: 82,737,219 (GRCm39) L3P probably damaging Het
Imp4 C A 1: 34,479,258 (GRCm39) probably benign Het
Insrr G A 3: 87,720,888 (GRCm39) V1049M probably damaging Het
Klhl24 T C 16: 19,933,331 (GRCm39) V314A probably damaging Het
Krt32 A T 11: 99,978,733 (GRCm39) V107D possibly damaging Het
Krtap5-1 G A 7: 141,850,242 (GRCm39) Q189* probably null Het
Lrrc9 A G 12: 72,553,178 (GRCm39) E1360G probably damaging Het
Mdc1 G T 17: 36,157,083 (GRCm39) L163F possibly damaging Het
Mroh1 T G 15: 76,276,661 (GRCm39) probably null Het
Myh8 A G 11: 67,192,418 (GRCm39) probably benign Het
Ndufab1 A T 7: 121,692,949 (GRCm39) probably benign Het
Nek3 A G 8: 22,648,735 (GRCm39) probably benign Het
Ngly1 A T 14: 16,260,636 (GRCm38) I107L probably benign Het
Nkain4 A T 2: 180,577,728 (GRCm39) probably null Het
Nsd2 T A 5: 34,022,132 (GRCm39) probably benign Het
Or4n4 A G 14: 50,518,801 (GRCm39) I303T probably benign Het
Or5e1 A T 7: 108,354,830 (GRCm39) M256L probably benign Het
Or5t9 A T 2: 86,659,300 (GRCm39) H68L probably damaging Het
Or7e166 T A 9: 19,624,314 (GRCm39) Y64N probably damaging Het
Or8b12 T A 9: 37,657,805 (GRCm39) I125N probably damaging Het
Pcnt G A 10: 76,248,417 (GRCm39) Q901* probably null Het
Pctp C A 11: 89,881,913 (GRCm39) W81C probably damaging Het
Pik3r5 A T 11: 68,386,773 (GRCm39) I801F probably damaging Het
Ptprj A T 2: 90,299,942 (GRCm39) N193K probably benign Het
Rab11fip1 A T 8: 27,642,788 (GRCm39) D670E probably benign Het
Ranbp2 T C 10: 58,316,086 (GRCm39) F2269L probably damaging Het
Rint1 C A 5: 24,024,478 (GRCm39) A760D possibly damaging Het
Ryr2 G A 13: 11,680,848 (GRCm39) P3166S probably damaging Het
Snap29 A G 16: 17,240,367 (GRCm39) N158D probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
St6galnac1 G T 11: 116,657,473 (GRCm39) probably benign Het
Strc G A 2: 121,209,717 (GRCm39) T202I probably damaging Het
Stxbp4 A G 11: 90,385,426 (GRCm39) probably null Het
Syne1 A T 10: 5,309,059 (GRCm39) M650K probably damaging Het
Tbc1d2b C T 9: 90,105,487 (GRCm39) probably benign Het
Tcfl5 A T 2: 180,280,419 (GRCm39) I328N possibly damaging Het
Tenm2 A G 11: 36,164,235 (GRCm39) Y337H probably damaging Het
Tgfbr2 T C 9: 115,939,204 (GRCm39) K233E possibly damaging Het
Tnk2 T C 16: 32,484,699 (GRCm39) probably benign Het
Trbv13-2 A G 6: 41,098,471 (GRCm39) probably benign Het
Tut4 T C 4: 108,370,725 (GRCm39) Y875H probably benign Het
Usp6nl T A 2: 6,432,360 (GRCm39) probably benign Het
Vmn2r62 A G 7: 42,437,396 (GRCm39) S363P possibly damaging Het
Vnn3 T C 10: 23,727,869 (GRCm39) I93T possibly damaging Het
Ylpm1 A G 12: 85,091,258 (GRCm39) D1108G probably damaging Het
Zbtb17 G A 4: 141,190,691 (GRCm39) G170S probably benign Het
Zfyve26 T C 12: 79,320,084 (GRCm39) E1087G probably benign Het
Other mutations in Racgap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Racgap1 APN 15 99,534,003 (GRCm39) unclassified probably benign
IGL01450:Racgap1 APN 15 99,524,244 (GRCm39) missense probably benign 0.00
IGL01907:Racgap1 APN 15 99,524,214 (GRCm39) nonsense probably null
IGL02584:Racgap1 APN 15 99,521,515 (GRCm39) missense probably benign 0.00
IGL02733:Racgap1 APN 15 99,537,585 (GRCm39) missense probably damaging 1.00
IGL03137:Racgap1 APN 15 99,526,622 (GRCm39) missense probably damaging 0.96
IGL03145:Racgap1 APN 15 99,521,521 (GRCm39) missense probably benign 0.00
R0106:Racgap1 UTSW 15 99,540,839 (GRCm39) missense possibly damaging 0.66
R0106:Racgap1 UTSW 15 99,540,839 (GRCm39) missense possibly damaging 0.66
R0140:Racgap1 UTSW 15 99,521,532 (GRCm39) missense probably benign 0.00
R0398:Racgap1 UTSW 15 99,526,508 (GRCm39) splice site probably benign
R0496:Racgap1 UTSW 15 99,537,713 (GRCm39) splice site probably benign
R0528:Racgap1 UTSW 15 99,526,587 (GRCm39) missense probably damaging 1.00
R0893:Racgap1 UTSW 15 99,524,411 (GRCm39) missense probably benign
R0947:Racgap1 UTSW 15 99,522,195 (GRCm39) missense possibly damaging 0.83
R1348:Racgap1 UTSW 15 99,524,246 (GRCm39) missense possibly damaging 0.54
R1470:Racgap1 UTSW 15 99,537,656 (GRCm39) missense probably damaging 0.99
R1470:Racgap1 UTSW 15 99,537,656 (GRCm39) missense probably damaging 0.99
R1720:Racgap1 UTSW 15 99,526,650 (GRCm39) nonsense probably null
R2235:Racgap1 UTSW 15 99,524,417 (GRCm39) missense probably benign
R3624:Racgap1 UTSW 15 99,540,772 (GRCm39) missense probably damaging 0.97
R4621:Racgap1 UTSW 15 99,524,087 (GRCm39) missense probably benign 0.10
R4622:Racgap1 UTSW 15 99,524,087 (GRCm39) missense probably benign 0.10
R4623:Racgap1 UTSW 15 99,524,087 (GRCm39) missense probably benign 0.10
R5046:Racgap1 UTSW 15 99,526,643 (GRCm39) missense probably damaging 1.00
R5899:Racgap1 UTSW 15 99,521,509 (GRCm39) missense possibly damaging 0.80
R6306:Racgap1 UTSW 15 99,521,834 (GRCm39) missense probably benign
R6513:Racgap1 UTSW 15 99,522,156 (GRCm39) missense probably damaging 1.00
R6618:Racgap1 UTSW 15 99,521,875 (GRCm39) missense probably damaging 0.97
R6953:Racgap1 UTSW 15 99,524,210 (GRCm39) missense probably damaging 1.00
R7359:Racgap1 UTSW 15 99,529,081 (GRCm39) missense probably benign
R7463:Racgap1 UTSW 15 99,540,839 (GRCm39) missense probably benign
R8292:Racgap1 UTSW 15 99,520,127 (GRCm39) nonsense probably null
R8883:Racgap1 UTSW 15 99,526,540 (GRCm39) missense probably benign 0.00
R9227:Racgap1 UTSW 15 99,534,078 (GRCm39) missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- TACTCAAAGTCCCCTCACATGG -3'
(R):5'- GTGTTTCCAAAGACTTCATGTCC -3'

Sequencing Primer
(F):5'- CTCACATGGGCAATCTTACTATACAG -3'
(R):5'- CCAAAGACTTCATGTCCTTAGATAGG -3'
Posted On 2016-06-09