Incidental Mutation 'R8866:Arhgap1'
ID 675912
Institutional Source Beutler Lab
Gene Symbol Arhgap1
Ensembl Gene ENSMUSG00000027247
Gene Name Rho GTPase activating protein 1
Synonyms Cdc42GAP, B230365D05Rik, p50rhoGAP
MMRRC Submission 068742-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.348) question?
Stock # R8866 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 91480463-91502670 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 91499744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 293 (S293I)
Ref Sequence ENSEMBL: ENSMUSP00000106963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090614] [ENSMUST00000111329] [ENSMUST00000111330] [ENSMUST00000111331]
AlphaFold Q5FWK3
Predicted Effect probably benign
Transcript: ENSMUST00000090614
AA Change: S253I

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000088105
Gene: ENSMUSG00000027247
AA Change: S253I

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 42 52 N/A INTRINSIC
SEC14 64 215 5.08e-25 SMART
low complexity region 224 238 N/A INTRINSIC
RhoGAP 257 428 1.06e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111329
AA Change: S253I

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000106961
Gene: ENSMUSG00000027247
AA Change: S253I

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 42 52 N/A INTRINSIC
SEC14 64 215 5.08e-25 SMART
low complexity region 224 238 N/A INTRINSIC
RhoGAP 257 428 1.06e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111330
AA Change: S253I

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000106962
Gene: ENSMUSG00000027247
AA Change: S253I

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 42 52 N/A INTRINSIC
SEC14 64 215 5.08e-25 SMART
low complexity region 224 238 N/A INTRINSIC
RhoGAP 257 428 1.06e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111331
AA Change: S293I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000106963
Gene: ENSMUSG00000027247
AA Change: S293I

DomainStartEndE-ValueType
low complexity region 44 58 N/A INTRINSIC
low complexity region 82 92 N/A INTRINSIC
SEC14 104 255 5.08e-25 SMART
low complexity region 264 278 N/A INTRINSIC
RhoGAP 297 468 1.06e-61 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous null mice display incomplete penetrance of postnatal lethality, increased apoptosis, and growth retardation. [provided by MGI curators]
Allele List at MGI

All alleles(28) : Targeted(1) Gene trapped(27)

Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 C T 3: 59,914,511 (GRCm39) T38I probably benign Het
Arhgap45 C A 10: 79,853,750 (GRCm39) P88Q probably damaging Het
Atg9a A C 1: 75,161,867 (GRCm39) F560V probably damaging Het
Btaf1 T A 19: 36,935,901 (GRCm39) N230K probably benign Het
Ccne1 A C 7: 37,800,046 (GRCm39) H179Q probably benign Het
Dbr1 T A 9: 99,460,497 (GRCm39) L109* probably null Het
Dchs1 G T 7: 105,404,597 (GRCm39) N2648K probably benign Het
Ddx47 A G 6: 135,000,356 (GRCm39) K451E probably benign Het
Dlgap1 A T 17: 70,823,435 (GRCm39) H140L probably damaging Het
Dnah11 T A 12: 118,156,107 (GRCm39) H181L probably benign Het
Dync1h1 T C 12: 110,602,333 (GRCm39) C2074R probably damaging Het
Ell2 A T 13: 75,917,793 (GRCm39) Q574H probably damaging Het
Eloa A C 4: 135,737,538 (GRCm39) probably null Het
Epha7 A G 4: 28,821,614 (GRCm39) I260V probably benign Het
Fbp2 T C 13: 62,989,709 (GRCm39) K199R probably benign Het
Fetub A T 16: 22,758,321 (GRCm39) E368V possibly damaging Het
Fsip2 A G 2: 82,810,521 (GRCm39) Q2280R probably benign Het
Fstl4 A G 11: 52,963,233 (GRCm39) E205G possibly damaging Het
Gm5592 A T 7: 40,938,246 (GRCm39) R509S possibly damaging Het
Gpld1 A G 13: 25,170,890 (GRCm39) T794A probably benign Het
Gsk3b A G 16: 38,004,900 (GRCm39) Y157C probably damaging Het
Hgs A G 11: 120,360,464 (GRCm39) N54S probably benign Het
Hydin G A 8: 111,308,779 (GRCm39) V4022M possibly damaging Het
Kank1 T C 19: 25,388,702 (GRCm39) S792P possibly damaging Het
Kctd4 A G 14: 76,200,465 (GRCm39) I145M probably benign Het
Klra5 A T 6: 129,880,533 (GRCm39) W212R probably damaging Het
Lrp6 A T 6: 134,445,785 (GRCm39) N1009K probably benign Het
Lrrc10 T A 10: 116,881,858 (GRCm39) N177K probably damaging Het
Lrrc39 T A 3: 116,363,790 (GRCm39) I121N probably damaging Het
Mov10l1 A T 15: 88,896,169 (GRCm39) D671V probably benign Het
Ndel1 A G 11: 68,734,645 (GRCm39) probably null Het
Or10g3 A T 14: 52,610,196 (GRCm39) Y105N probably damaging Het
Or1e27-ps1 A G 11: 73,555,825 (GRCm39) Y130C probably damaging Het
Or1e32 A T 11: 73,705,237 (GRCm39) S224T probably damaging Het
Or51a43 A T 7: 103,718,119 (GRCm39) S40T probably damaging Het
Otop2 A G 11: 115,220,354 (GRCm39) D398G probably benign Het
Pkd1 T C 17: 24,792,051 (GRCm39) V1246A probably damaging Het
Polr3b T A 10: 84,531,555 (GRCm39) D810E probably benign Het
Ppl T A 16: 4,920,211 (GRCm39) T395S probably benign Het
Ptprm G A 17: 67,116,630 (GRCm39) A883V probably benign Het
Rapgef6 G A 11: 54,443,700 (GRCm39) probably null Het
Rbm12 A T 2: 155,938,693 (GRCm39) Y526* probably null Het
Rbm15b C T 9: 106,763,595 (GRCm39) R191Q probably benign Het
Rsf1 GCGGCGGCG GCGGCGGCGACGGCGGCG 7: 97,229,120 (GRCm39) probably benign Het
Rxylt1 A G 10: 121,924,953 (GRCm39) Y250H probably damaging Het
Serpinb6c A T 13: 34,083,309 (GRCm39) I35N probably damaging Het
Setd4 A G 16: 93,386,961 (GRCm39) F246L probably damaging Het
Shank2 A G 7: 143,964,986 (GRCm39) S865G probably benign Het
Skint6 T C 4: 112,711,650 (GRCm39) N956D probably benign Het
Slc30a3 C A 5: 31,245,325 (GRCm39) V332F possibly damaging Het
Smg1 A G 7: 117,806,122 (GRCm39) S240P unknown Het
Tank T A 2: 61,409,005 (GRCm39) S7R probably benign Het
Tecpr1 T C 5: 144,153,117 (GRCm39) E204G possibly damaging Het
Tmem74 A G 15: 43,730,231 (GRCm39) S271P probably damaging Het
Tor4a T C 2: 25,084,965 (GRCm39) M313V probably benign Het
Tpd52l2 A G 2: 181,154,861 (GRCm39) D192G probably damaging Het
Trim29 T C 9: 43,222,945 (GRCm39) V258A probably damaging Het
Ttc39c A T 18: 12,831,003 (GRCm39) S288C probably benign Het
Ttn T C 2: 76,592,675 (GRCm39) E20819G probably damaging Het
Twnk C T 19: 45,000,272 (GRCm39) Q663* probably null Het
Ucn T A 5: 31,295,857 (GRCm39) Q3L probably benign Het
Unc80 G A 1: 66,629,388 (GRCm39) G1295E probably benign Het
Usp9y C T Y: 1,395,758 (GRCm39) R492H probably damaging Het
Vars1 T C 17: 35,234,620 (GRCm39) S1150P probably benign Het
Vwa5b1 T G 4: 138,327,628 (GRCm39) E316A probably damaging Het
Zc3h7b G A 15: 81,656,681 (GRCm39) R166Q probably benign Het
Zfp839 A G 12: 110,834,848 (GRCm39) E701G probably benign Het
Zfp931 A T 2: 177,710,178 (GRCm39) C69* probably null Het
Other mutations in Arhgap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01876:Arhgap1 APN 2 91,480,564 (GRCm39) splice site probably null
IGL02283:Arhgap1 APN 2 91,501,121 (GRCm39) missense probably damaging 1.00
IGL02540:Arhgap1 APN 2 91,500,584 (GRCm39) missense probably damaging 1.00
P0012:Arhgap1 UTSW 2 91,500,608 (GRCm39) missense probably benign 0.00
P0041:Arhgap1 UTSW 2 91,499,738 (GRCm39) missense probably benign 0.03
R0049:Arhgap1 UTSW 2 91,500,514 (GRCm39) missense probably damaging 1.00
R0049:Arhgap1 UTSW 2 91,500,514 (GRCm39) missense probably damaging 1.00
R1385:Arhgap1 UTSW 2 91,501,176 (GRCm39) missense probably damaging 1.00
R4386:Arhgap1 UTSW 2 91,498,582 (GRCm39) missense probably damaging 1.00
R5774:Arhgap1 UTSW 2 91,484,453 (GRCm39) missense possibly damaging 0.91
R6985:Arhgap1 UTSW 2 91,498,543 (GRCm39) missense probably damaging 1.00
R8855:Arhgap1 UTSW 2 91,499,744 (GRCm39) missense probably benign 0.01
Z1176:Arhgap1 UTSW 2 91,480,559 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- TGCTCCCCTAGGTATGATGAC -3'
(R):5'- AGTTCCAAGAAGGGTCATTGGG -3'

Sequencing Primer
(F):5'- GGTATGATGACTTCCTCAAATCCAC -3'
(R):5'- TCATTGGGAGCGCACTTC -3'
Posted On 2021-07-15