Incidental Mutation 'R3721:Arhgap9'
ID 258919
Institutional Source Beutler Lab
Gene Symbol Arhgap9
Ensembl Gene ENSMUSG00000040345
Gene Name Rho GTPase activating protein 9
Synonyms
MMRRC Submission 040712-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R3721 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 127157833-127165812 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127164840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 588 (E588G)
Ref Sequence ENSEMBL: ENSMUSP00000151690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026474] [ENSMUST00000069548] [ENSMUST00000219026] [ENSMUST00000219511]
AlphaFold Q1HDU4
Predicted Effect probably benign
Transcript: ENSMUST00000026474
SMART Domains Protein: ENSMUSP00000026474
Gene: ENSMUSG00000025407

DomainStartEndE-ValueType
low complexity region 222 237 N/A INTRINSIC
ZnF_C2H2 238 263 1.33e-1 SMART
ZnF_C2H2 271 298 5.72e-1 SMART
ZnF_C2H2 304 328 2.57e-3 SMART
ZnF_C2H2 334 359 1.92e-2 SMART
ZnF_C2H2 365 390 2.61e-4 SMART
low complexity region 419 431 N/A INTRINSIC
low complexity region 540 562 N/A INTRINSIC
low complexity region 639 655 N/A INTRINSIC
low complexity region 748 759 N/A INTRINSIC
low complexity region 850 873 N/A INTRINSIC
low complexity region 941 962 N/A INTRINSIC
low complexity region 985 1002 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000069548
AA Change: E413G

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000066455
Gene: ENSMUSG00000040345
AA Change: E413G

DomainStartEndE-ValueType
PH 60 175 8.19e-10 SMART
RhoGAP 276 469 1.94e-55 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218656
Predicted Effect possibly damaging
Transcript: ENSMUST00000219026
AA Change: E413G

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219511
AA Change: E588G

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219640
Meta Mutation Damage Score 0.1862 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a T C 2: 48,782,150 (GRCm39) S228P probably damaging Het
Adamts2 C T 11: 50,664,038 (GRCm39) probably benign Het
Ash2l C G 8: 26,308,653 (GRCm39) G453A probably damaging Het
Catsperg2 A G 7: 29,404,527 (GRCm39) V638A probably benign Het
Ccrl2 T C 9: 110,885,432 (GRCm39) D22G probably benign Het
Cdc73 T C 1: 143,571,191 (GRCm39) I83V possibly damaging Het
Ceacam23 A G 7: 17,636,663 (GRCm39) T247A probably benign Het
Clec2e C A 6: 129,071,373 (GRCm39) E155* probably null Het
Cyp3a59 T A 5: 146,033,407 (GRCm39) M181K probably damaging Het
Dars2 A T 1: 160,890,878 (GRCm39) V111E probably benign Het
Diras2 T A 13: 52,662,059 (GRCm39) I83F probably damaging Het
Dlg2 T A 7: 91,361,008 (GRCm39) probably null Het
Dnai1 G A 4: 41,602,615 (GRCm39) R113H probably damaging Het
Eeig2 C T 3: 108,887,083 (GRCm39) R305Q probably damaging Het
Emilin2 T C 17: 71,580,449 (GRCm39) N759S probably benign Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Ggnbp1 T C 17: 27,248,587 (GRCm39) V52A probably benign Het
Gpr171 A G 3: 59,005,091 (GRCm39) V228A possibly damaging Het
Gsta3 T C 1: 21,330,313 (GRCm39) M55T probably benign Het
Hectd3 T A 4: 116,856,942 (GRCm39) N496K probably benign Het
Hp1bp3 T G 4: 137,966,919 (GRCm39) F367V probably damaging Het
Il18rap T A 1: 40,576,248 (GRCm39) L253Q probably damaging Het
Irs1 C T 1: 82,267,806 (GRCm39) G137S probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lair1 A C 7: 4,013,782 (GRCm39) L155R probably damaging Het
Larp7 A G 3: 127,340,460 (GRCm39) L126P probably damaging Het
Lhx1 G A 11: 84,412,654 (GRCm39) R89C probably damaging Het
Lypd4 C A 7: 24,564,884 (GRCm39) A85S probably benign Het
Mei1 A G 15: 81,987,405 (GRCm39) H399R possibly damaging Het
Myh10 G T 11: 68,703,878 (GRCm39) R1863L probably damaging Het
Myo9a G A 9: 59,775,463 (GRCm39) V1025I probably benign Het
Naa25 T A 5: 121,569,619 (GRCm39) D659E probably benign Het
Nol9 A G 4: 152,124,163 (GRCm39) S118G probably benign Het
Or4k2 C T 14: 50,424,137 (GRCm39) C179Y probably damaging Het
Or5p72 G T 7: 108,022,326 (GRCm39) D183Y probably damaging Het
Pde10a T A 17: 9,188,421 (GRCm39) I907N probably damaging Het
Pkhd1 T C 1: 20,655,879 (GRCm39) D218G probably benign Het
Poll A G 19: 45,542,016 (GRCm39) I430T probably damaging Het
Pomgnt1 T G 4: 116,010,740 (GRCm39) probably benign Het
Rab6b T C 9: 103,044,373 (GRCm39) probably null Het
Rad1 T C 15: 10,488,112 (GRCm39) S79P probably benign Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,169,203 (GRCm39) probably benign Het
Rcc1 T C 4: 132,065,125 (GRCm39) K133E possibly damaging Het
Ric8a T C 7: 140,441,874 (GRCm39) probably null Het
Rnf135 G T 11: 80,087,743 (GRCm39) A231S probably benign Het
Rps6ka4 A G 19: 6,816,645 (GRCm39) V146A possibly damaging Het
Sh3bp4 A G 1: 89,073,050 (GRCm39) I633V possibly damaging Het
Slc2a2 T A 3: 28,781,301 (GRCm39) N446K probably damaging Het
Slc44a1 T C 4: 53,491,445 (GRCm39) Y61H probably damaging Het
Slc7a1 G A 5: 148,272,343 (GRCm39) R445* probably null Het
Smc5 T C 19: 23,187,856 (GRCm39) M911V probably benign Het
Sntb1 C A 15: 55,506,214 (GRCm39) R453L probably benign Het
Spink4 T A 4: 40,929,136 (GRCm39) C54S probably damaging Het
Srrm2 CTCCTCTTCTTCCTCTTCTTCCTC CTCCTCTTCTTCCTC 17: 24,041,549 (GRCm39) probably benign Het
Trpm1 T G 7: 63,867,475 (GRCm39) probably benign Het
Tufm T C 7: 126,089,632 (GRCm39) M442T probably benign Het
Ubn1 A G 16: 4,891,242 (GRCm39) N539S possibly damaging Het
Other mutations in Arhgap9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00919:Arhgap9 APN 10 127,163,762 (GRCm39) splice site probably benign
IGL01069:Arhgap9 APN 10 127,164,821 (GRCm39) missense probably damaging 1.00
IGL02444:Arhgap9 APN 10 127,163,816 (GRCm39) missense probably damaging 1.00
IGL02707:Arhgap9 APN 10 127,165,476 (GRCm39) missense probably damaging 0.98
R0242:Arhgap9 UTSW 10 127,165,407 (GRCm39) missense probably benign 0.13
R0242:Arhgap9 UTSW 10 127,165,407 (GRCm39) missense probably benign 0.13
R0841:Arhgap9 UTSW 10 127,165,508 (GRCm39) missense probably damaging 0.98
R1084:Arhgap9 UTSW 10 127,163,797 (GRCm39) missense probably damaging 1.00
R1707:Arhgap9 UTSW 10 127,164,758 (GRCm39) missense probably benign 0.00
R1799:Arhgap9 UTSW 10 127,163,593 (GRCm39) missense probably damaging 1.00
R2423:Arhgap9 UTSW 10 127,162,993 (GRCm39) splice site probably null
R2511:Arhgap9 UTSW 10 127,164,854 (GRCm39) critical splice donor site probably null
R3803:Arhgap9 UTSW 10 127,165,386 (GRCm39) missense possibly damaging 0.64
R4261:Arhgap9 UTSW 10 127,164,334 (GRCm39) missense probably damaging 1.00
R4968:Arhgap9 UTSW 10 127,162,875 (GRCm39) missense possibly damaging 0.80
R5423:Arhgap9 UTSW 10 127,165,418 (GRCm39) missense probably damaging 1.00
R5425:Arhgap9 UTSW 10 127,162,287 (GRCm39) missense probably damaging 1.00
R6697:Arhgap9 UTSW 10 127,157,989 (GRCm39) missense probably benign 0.34
R6969:Arhgap9 UTSW 10 127,162,512 (GRCm39) missense probably benign 0.39
R8840:Arhgap9 UTSW 10 127,161,009 (GRCm39) missense possibly damaging 0.94
R8844:Arhgap9 UTSW 10 127,161,015 (GRCm39) missense probably benign 0.03
R9084:Arhgap9 UTSW 10 127,158,114 (GRCm39) missense possibly damaging 0.95
R9325:Arhgap9 UTSW 10 127,161,722 (GRCm39) missense probably damaging 1.00
X0067:Arhgap9 UTSW 10 127,164,301 (GRCm39) missense probably damaging 1.00
Z1176:Arhgap9 UTSW 10 127,163,558 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGATACCATCAGGGGACATGG -3'
(R):5'- AGCTCAACCAAGGGAGCTAC -3'

Sequencing Primer
(F):5'- CATGGGAAAGAGTGAATTTACACACC -3'
(R):5'- TGCCCCATGGAGACTAAGG -3'
Posted On 2015-01-23