Incidental Mutation 'R7297:Arhgap22'
ID 566766
Institutional Source Beutler Lab
Gene Symbol Arhgap22
Ensembl Gene ENSMUSG00000063506
Gene Name Rho GTPase activating protein 22
Synonyms RHOGAP2, B230341L19Rik
MMRRC Submission 045401-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7297 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 32935983-33091891 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 32993890 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 68 (R68*)
Ref Sequence ENSEMBL: ENSMUSP00000107587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111956] [ENSMUST00000131086]
AlphaFold Q8BL80
Predicted Effect probably null
Transcript: ENSMUST00000111956
AA Change: R68*
SMART Domains Protein: ENSMUSP00000107587
Gene: ENSMUSG00000063506
AA Change: R68*

DomainStartEndE-ValueType
PH 44 153 1.03e-24 SMART
RhoGAP 176 352 1.96e-65 SMART
low complexity region 472 483 N/A INTRINSIC
low complexity region 505 546 N/A INTRINSIC
low complexity region 553 563 N/A INTRINSIC
coiled coil region 612 691 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000131086
AA Change: R62*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 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 the GTPase activating protein family which activates a GTPase belonging to the RAS superfamily of small GTP-binding proteins. The encoded protein is insulin-responsive, is dependent on the kinase Akt and requires the Akt-dependent 14-3-3 binding protein which binds sequentially to two serine residues. The result of these interactions is regulation of cell motility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,332,088 (GRCm39) D1400G probably benign Het
Abca6 C T 11: 110,073,852 (GRCm39) probably null Het
Adh4 A G 3: 138,134,901 (GRCm39) I358M possibly damaging Het
Akap6 T G 12: 52,934,147 (GRCm39) D546E probably benign Het
Arap3 G A 18: 38,106,616 (GRCm39) A1409V possibly damaging Het
Arhgef4 A T 1: 34,846,273 (GRCm39) D207V probably damaging Het
Asb15 A G 6: 24,566,462 (GRCm39) T472A probably damaging Het
Ascl1 A T 10: 87,328,326 (GRCm39) S209T probably damaging Het
Asxl1 T C 2: 153,239,355 (GRCm39) V382A probably benign Het
Atp11a T C 8: 12,856,774 (GRCm39) probably null Het
Calu C T 6: 29,356,554 (GRCm39) R27* probably null Het
Cdh20 A G 1: 104,898,598 (GRCm39) T442A probably benign Het
Chrm3 T A 13: 9,927,869 (GRCm39) Q389L probably benign Het
Cntnap1 A G 11: 101,079,460 (GRCm39) T1233A probably benign Het
Cwc15 G A 9: 14,421,525 (GRCm39) C197Y probably damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dennd3 C T 15: 73,429,459 (GRCm39) T914I probably damaging Het
Dlx3 C A 11: 95,011,276 (GRCm39) Y43* probably null Het
Dnah17 A T 11: 117,946,556 (GRCm39) probably null Het
Dnah17 A G 11: 117,994,182 (GRCm39) F1081S probably damaging Het
Dpp10 G A 1: 123,281,157 (GRCm39) Q631* probably null Het
Dsel T A 1: 111,789,506 (GRCm39) D343V probably damaging Het
Efcab12 T C 6: 115,787,997 (GRCm39) D655G possibly damaging Het
Epha8 T A 4: 136,673,224 (GRCm39) I187L probably damaging Het
Exosc10 A G 4: 148,664,834 (GRCm39) K781E probably damaging Het
Exosc5 T C 7: 25,365,751 (GRCm39) L200P probably benign Het
Faiml T C 9: 99,111,666 (GRCm39) E131G probably damaging Het
Gm5145 G A 17: 20,790,993 (GRCm39) V124I probably benign Het
Grm7 T C 6: 110,622,974 (GRCm39) V49A probably benign Het
Gtf2e1 T C 16: 37,356,427 (GRCm39) D35G probably damaging Het
Heatr1 C T 13: 12,435,941 (GRCm39) Q1160* probably null Het
Herc2 T A 7: 55,786,406 (GRCm39) C1584S probably benign Het
Hsd17b3 T C 13: 64,224,165 (GRCm39) I88V probably damaging Het
Hspa14 A C 2: 3,499,179 (GRCm39) L205R possibly damaging Het
Ifna11 A C 4: 88,738,662 (GRCm39) E156A possibly damaging Het
Krt87 T C 15: 101,387,528 (GRCm39) D170G probably benign Het
Mas1 T C 17: 13,060,745 (GRCm39) Y226C probably damaging Het
Micall1 T C 15: 79,005,097 (GRCm39) F190L unknown Het
Msi2 A T 11: 88,370,864 (GRCm39) L141Q probably damaging Het
Nfkbib T C 7: 28,465,768 (GRCm39) D27G probably benign Het
Nlrp9b A G 7: 19,783,438 (GRCm39) D927G possibly damaging Het
Nrg3 T C 14: 38,092,896 (GRCm39) D579G probably benign Het
Nutm1 G A 2: 112,080,401 (GRCm39) R505C probably damaging Het
Or8d1 G A 9: 38,767,245 (GRCm39) D296N probably damaging Het
Or8h6 A T 2: 86,703,980 (GRCm39) V29E probably damaging Het
Parp4 C T 14: 56,885,138 (GRCm39) P1406S not run Het
Pkib A T 10: 57,612,422 (GRCm39) Q101L possibly damaging Het
Plat C T 8: 23,265,713 (GRCm39) T252I probably benign Het
Ppm1d A T 11: 85,236,821 (GRCm39) E533D probably damaging Het
Psd3 T C 8: 68,573,686 (GRCm39) K165R probably damaging Het
Psg29 T A 7: 16,944,616 (GRCm39) Y375* probably null Het
Pus7 A T 5: 23,946,908 (GRCm39) I644N probably damaging Het
Rbbp9 A T 2: 144,385,722 (GRCm39) M181K probably benign Het
Rell1 A T 5: 64,093,418 (GRCm39) N112K possibly damaging Het
Simc1 AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG 13: 54,673,048 (GRCm39) probably benign Het
Skint5 G A 4: 113,400,131 (GRCm39) T1184M unknown Het
Slc27a2 T A 2: 126,420,866 (GRCm39) D452E probably damaging Het
Slc44a4 T A 17: 35,146,888 (GRCm39) I489N probably damaging Het
Slfn14 T A 11: 83,169,821 (GRCm39) K608* probably null Het
Snx15 T A 19: 6,170,537 (GRCm39) I301F probably damaging Het
Sost C T 11: 101,854,929 (GRCm39) G127R probably damaging Het
Stt3b A G 9: 115,106,025 (GRCm39) I150T probably damaging Het
Susd2 T C 10: 75,478,402 (GRCm39) D58G probably benign Het
Tex46 T G 4: 136,340,212 (GRCm39) V99G probably damaging Het
Tgfbi T A 13: 56,779,926 (GRCm39) F492I possibly damaging Het
Tmem132c G A 5: 127,437,281 (GRCm39) A257T probably benign Het
Trim2 A T 3: 84,117,540 (GRCm39) I51K probably damaging Het
Tsn A T 1: 118,228,591 (GRCm39) Y210* probably null Het
Umodl1 G A 17: 31,227,639 (GRCm39) R1324H probably benign Het
Utp3 G C 5: 88,702,376 (GRCm39) probably benign Het
Vmn1r5 A T 6: 56,963,204 (GRCm39) N293I possibly damaging Het
Vmn2r124 A T 17: 18,293,835 (GRCm39) I641F probably damaging Het
Vmn2r84 T C 10: 130,227,119 (GRCm39) N240D probably benign Het
Wbp1l A G 19: 46,642,839 (GRCm39) D264G possibly damaging Het
Other mutations in Arhgap22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02317:Arhgap22 APN 14 33,081,230 (GRCm39) missense probably damaging 1.00
IGL02707:Arhgap22 APN 14 33,085,229 (GRCm39) splice site probably benign
R0329:Arhgap22 UTSW 14 33,091,374 (GRCm39) missense possibly damaging 0.55
R0330:Arhgap22 UTSW 14 33,091,374 (GRCm39) missense possibly damaging 0.55
R0335:Arhgap22 UTSW 14 33,081,065 (GRCm39) splice site probably benign
R0625:Arhgap22 UTSW 14 33,088,671 (GRCm39) missense probably benign 0.01
R0961:Arhgap22 UTSW 14 33,089,070 (GRCm39) missense probably damaging 0.98
R1167:Arhgap22 UTSW 14 33,065,264 (GRCm39) splice site probably null
R1991:Arhgap22 UTSW 14 33,088,916 (GRCm39) missense probably damaging 0.98
R3820:Arhgap22 UTSW 14 33,089,378 (GRCm39) missense probably benign 0.41
R4377:Arhgap22 UTSW 14 33,091,467 (GRCm39) missense probably damaging 0.99
R4670:Arhgap22 UTSW 14 33,084,500 (GRCm39) missense probably damaging 1.00
R4671:Arhgap22 UTSW 14 33,084,500 (GRCm39) missense probably damaging 1.00
R5177:Arhgap22 UTSW 14 33,088,650 (GRCm39) missense probably benign 0.09
R5910:Arhgap22 UTSW 14 33,088,572 (GRCm39) missense probably damaging 0.98
R7868:Arhgap22 UTSW 14 33,086,473 (GRCm39) unclassified probably benign
R8128:Arhgap22 UTSW 14 33,089,042 (GRCm39) missense probably benign 0.00
R8900:Arhgap22 UTSW 14 32,993,880 (GRCm39) nonsense probably null
R9486:Arhgap22 UTSW 14 33,073,303 (GRCm39) missense probably benign 0.04
R9601:Arhgap22 UTSW 14 33,020,727 (GRCm39) missense probably damaging 0.98
Z1176:Arhgap22 UTSW 14 33,084,479 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGGGCTACTGACCTGATTCTC -3'
(R):5'- CATTTCGGAAGTCGGAGGTG -3'

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