Incidental Mutation 'R7205:Arhgap17'
ID 560529
Institutional Source Beutler Lab
Gene Symbol Arhgap17
Ensembl Gene ENSMUSG00000030766
Gene Name Rho GTPase activating protein 17
Synonyms Rich1, Nadrin2, Nadrin, 5730403H17Rik, WBP15
MMRRC Submission 045283-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7205 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 122878441-122969138 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122905661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 328 (L328P)
Ref Sequence ENSEMBL: ENSMUSP00000102050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098060] [ENSMUST00000106442] [ENSMUST00000167309] [ENSMUST00000205262] [ENSMUST00000206117] [ENSMUST00000207010]
AlphaFold Q3UIA2
Predicted Effect probably damaging
Transcript: ENSMUST00000098060
AA Change: L328P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095668
Gene: ENSMUSG00000030766
AA Change: L328P

DomainStartEndE-ValueType
BAR 1 239 4.45e-65 SMART
RhoGAP 263 439 1.2e-60 SMART
low complexity region 554 595 N/A INTRINSIC
low complexity region 624 640 N/A INTRINSIC
low complexity region 644 664 N/A INTRINSIC
low complexity region 683 704 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106442
AA Change: L328P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102050
Gene: ENSMUSG00000030766
AA Change: L328P

DomainStartEndE-ValueType
BAR 1 239 4.45e-65 SMART
RhoGAP 263 439 1.2e-60 SMART
low complexity region 542 557 N/A INTRINSIC
low complexity region 570 582 N/A INTRINSIC
low complexity region 632 673 N/A INTRINSIC
low complexity region 702 718 N/A INTRINSIC
low complexity region 722 742 N/A INTRINSIC
low complexity region 761 782 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167309
AA Change: L328P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128447
Gene: ENSMUSG00000030766
AA Change: L328P

DomainStartEndE-ValueType
BAR 1 239 4.45e-65 SMART
RhoGAP 263 439 1.2e-60 SMART
low complexity region 542 557 N/A INTRINSIC
low complexity region 570 582 N/A INTRINSIC
low complexity region 632 673 N/A INTRINSIC
low complexity region 702 718 N/A INTRINSIC
low complexity region 722 742 N/A INTRINSIC
low complexity region 761 782 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000205262
AA Change: L328P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206117
Predicted Effect probably damaging
Transcript: ENSMUST00000207010
AA Change: L328P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (99/102)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004]
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 119,993,587 (GRCm39) K1269M possibly damaging Het
Adgrl2 A T 3: 148,564,585 (GRCm39) Y332N probably damaging Het
Adgrv1 C T 13: 81,627,777 (GRCm39) V3695I probably benign Het
Aldh1l1 A T 6: 90,575,257 (GRCm39) Y848F probably damaging Het
Ambra1 T C 2: 91,598,103 (GRCm39) V88A possibly damaging Het
Ankrd12 C T 17: 66,292,160 (GRCm39) R1091Q probably damaging Het
Apob T G 12: 8,055,087 (GRCm39) V1362G probably damaging Het
Arhgap27 A C 11: 103,235,367 (GRCm39) V9G probably benign Het
Arhgap33 A T 7: 30,232,434 (GRCm39) D34E probably damaging Het
Ash1l A G 3: 88,873,259 (GRCm39) D14G probably benign Het
Atf6b T C 17: 34,872,703 (GRCm39) Y575H probably damaging Het
Bcl2l2 T G 14: 55,122,058 (GRCm39) S74A probably benign Het
Begain T C 12: 109,004,794 (GRCm39) T73A possibly damaging Het
Bicdl1 C T 5: 115,808,340 (GRCm39) R264Q probably damaging Het
Ccdc180 A G 4: 45,914,588 (GRCm39) D701G probably benign Het
Cd200r4 G T 16: 44,653,529 (GRCm39) V146L probably damaging Het
Cd226 G A 18: 89,265,322 (GRCm39) C200Y probably damaging Het
Cdcp3 T C 7: 130,879,352 (GRCm39) probably null Het
Cdhr18 T C 14: 13,866,032 (GRCm38) T286A Het
Cdk12 A G 11: 98,115,451 (GRCm39) N864S unknown Het
Cfhr4 A T 1: 139,680,788 (GRCm39) Y243* probably null Het
Clcnkb A T 4: 141,135,946 (GRCm39) L413Q probably damaging Het
Cldn10 T C 14: 119,099,255 (GRCm39) V123A possibly damaging Het
Cnn1 T A 9: 22,017,078 (GRCm39) probably null Het
Cpa5 C A 6: 30,630,829 (GRCm39) Q364K probably benign Het
Cstdc5 T C 16: 36,187,809 (GRCm39) I19V probably benign Het
Ddx11 A G 17: 66,437,766 (GRCm39) E164G probably benign Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Drc7 T A 8: 95,804,549 (GRCm39) Y855N probably damaging Het
Fam20b C A 1: 156,529,968 (GRCm39) probably null Het
Fip1l1 T A 5: 74,748,736 (GRCm39) probably null Het
Flt4 A G 11: 49,525,125 (GRCm39) D657G probably null Het
Fmo3 T A 1: 162,781,857 (GRCm39) T499S possibly damaging Het
Fyco1 C T 9: 123,651,491 (GRCm39) G1190S probably benign Het
Galnt17 C A 5: 131,335,590 (GRCm39) probably benign Het
Ggcx T C 6: 72,404,987 (GRCm39) I465T probably damaging Het
Gm7361 T A 5: 26,466,116 (GRCm39) N159K probably damaging Het
Golgb1 A G 16: 36,695,663 (GRCm39) N54S unknown Het
Grin2c G A 11: 115,141,876 (GRCm39) P848S probably damaging Het
Grina T C 15: 76,133,287 (GRCm39) V285A probably damaging Het
Gtpbp6 A G 5: 110,252,478 (GRCm39) L381P probably damaging Het
Herc2 G T 7: 55,832,388 (GRCm39) G3028V probably damaging Het
Ibsp A T 5: 104,458,297 (GRCm39) Y278F probably damaging Het
Ints4 T A 7: 97,184,433 (GRCm39) L846* probably null Het
Kif17 A G 4: 138,021,077 (GRCm39) K849E probably benign Het
Krt77 G A 15: 101,777,806 (GRCm39) P83L probably benign Het
Ky T G 9: 102,419,491 (GRCm39) D499E probably damaging Het
Lrp3 A T 7: 34,902,051 (GRCm39) M610K probably damaging Het
Lrrfip1 T A 1: 91,019,338 (GRCm39) D156E probably benign Het
Map6 C A 7: 98,918,257 (GRCm39) H343Q probably benign Het
Micu2 G T 14: 58,191,606 (GRCm39) D148E probably benign Het
Mks1 T A 11: 87,747,428 (GRCm39) S153T probably benign Het
Msantd5f3 A G 4: 73,573,157 (GRCm39) Y132C probably damaging Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Myh9 T C 15: 77,667,672 (GRCm39) K587R probably benign Het
Neb T C 2: 52,086,368 (GRCm39) Y5478C probably damaging Het
Nelfe G A 17: 35,069,912 (GRCm39) probably null Het
Nps T A 7: 134,870,510 (GRCm39) L11I probably damaging Het
Nsd1 A T 13: 55,394,283 (GRCm39) D731V probably damaging Het
Nup50 A G 15: 84,817,859 (GRCm39) T93A probably benign Het
Nup98 A T 7: 101,844,248 (GRCm39) F29Y unknown Het
Oprd1 A G 4: 131,841,112 (GRCm39) I282T probably damaging Het
Or4c103 T C 2: 88,513,767 (GRCm39) H103R possibly damaging Het
Or5p50 T C 7: 107,421,782 (GRCm39) N298S probably benign Het
Or6b3 A T 1: 92,439,573 (GRCm39) M59K probably benign Het
Or6d12 A G 6: 116,492,936 (GRCm39) Y66C probably damaging Het
Osbp2 T C 11: 3,662,134 (GRCm39) I240V probably damaging Het
Otub2 C A 12: 103,359,163 (GRCm39) P84Q probably benign Het
Parp9 A T 16: 35,777,360 (GRCm39) I435F probably benign Het
Pcdh18 C T 3: 49,709,923 (GRCm39) R464H probably benign Het
Pcsk6 G T 7: 65,675,156 (GRCm39) probably null Het
Ptgs2 G A 1: 149,978,512 (GRCm39) R208Q probably benign Het
Rab11b G A 17: 33,968,841 (GRCm39) R51C probably damaging Het
Rad1 A G 15: 10,493,343 (GRCm39) I257V probably benign Het
Rbms3 C T 9: 116,415,085 (GRCm39) probably null Het
Rxfp2 A T 5: 149,983,364 (GRCm39) I300L probably benign Het
Rxfp2 C A 5: 149,983,368 (GRCm39) T301K probably benign Het
Sars2 G T 7: 28,443,733 (GRCm39) A112S probably benign Het
Scn10a T C 9: 119,442,616 (GRCm39) D1543G probably damaging Het
Serpinb1b A G 13: 33,271,406 (GRCm39) H59R probably benign Het
Sgsm2 T A 11: 74,745,319 (GRCm39) D661V possibly damaging Het
Smad6 C A 9: 63,927,688 (GRCm39) V207L probably damaging Het
Son TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,183 (GRCm39) probably benign Het
Spata31h1 A T 10: 82,125,161 (GRCm39) D2616E probably benign Het
Tenm2 C T 11: 35,939,956 (GRCm39) R1390Q probably damaging Het
Tmem132a T A 19: 10,844,295 (GRCm39) Q101L probably damaging Het
Tmem151a A G 19: 5,132,801 (GRCm39) V135A probably damaging Het
Trappc10 T C 10: 78,046,262 (GRCm39) K443E probably damaging Het
Trrap A T 5: 144,779,517 (GRCm39) N3161I possibly damaging Het
Tspan32 G T 7: 142,558,863 (GRCm39) R6L possibly damaging Het
Tut7 C G 13: 59,936,364 (GRCm39) D1246H probably damaging Het
Ugt2a2 T C 5: 87,608,468 (GRCm39) D457G possibly damaging Het
Ulk2 A T 11: 61,725,657 (GRCm39) S140T possibly damaging Het
Upf1 C T 8: 70,792,695 (GRCm39) A338T possibly damaging Het
Usp43 C T 11: 67,774,110 (GRCm39) R460Q probably null Het
Uxs1 A G 1: 43,856,118 (GRCm39) probably benign Het
Vmn1r59 A G 7: 5,457,725 (GRCm39) C12R probably damaging Het
Wdr64 A G 1: 175,617,499 (GRCm39) D693G probably benign Het
Wnk1 A T 6: 119,920,839 (GRCm39) probably null Het
Wnt2 G T 6: 18,028,046 (GRCm39) R63S probably benign Het
Zfp418 A T 7: 7,184,562 (GRCm39) Q175L probably benign Het
Other mutations in Arhgap17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Arhgap17 APN 7 122,885,791 (GRCm39) utr 3 prime probably benign
IGL02112:Arhgap17 APN 7 122,917,640 (GRCm39) missense possibly damaging 0.92
IGL02117:Arhgap17 APN 7 122,885,996 (GRCm39) utr 3 prime probably benign
IGL03062:Arhgap17 APN 7 122,921,097 (GRCm39) splice site probably null
gensing UTSW 7 122,913,913 (GRCm39) missense probably damaging 1.00
Nightshade UTSW 7 122,926,467 (GRCm39) missense probably damaging 1.00
tuberose UTSW 7 122,907,600 (GRCm39) missense probably damaging 1.00
yam UTSW 7 122,905,643 (GRCm39) missense probably damaging 1.00
P0028:Arhgap17 UTSW 7 122,885,900 (GRCm39) utr 3 prime probably benign
R0480:Arhgap17 UTSW 7 122,893,867 (GRCm39) missense probably damaging 0.98
R0593:Arhgap17 UTSW 7 122,885,966 (GRCm39) utr 3 prime probably benign
R0594:Arhgap17 UTSW 7 122,893,741 (GRCm39) missense probably benign 0.00
R0599:Arhgap17 UTSW 7 122,903,013 (GRCm39) splice site probably benign
R0751:Arhgap17 UTSW 7 122,913,913 (GRCm39) missense probably damaging 1.00
R1184:Arhgap17 UTSW 7 122,913,913 (GRCm39) missense probably damaging 1.00
R1791:Arhgap17 UTSW 7 122,885,925 (GRCm39) missense probably benign 0.23
R2036:Arhgap17 UTSW 7 122,917,717 (GRCm39) missense possibly damaging 0.92
R3428:Arhgap17 UTSW 7 122,922,854 (GRCm39) missense probably damaging 1.00
R4032:Arhgap17 UTSW 7 122,879,289 (GRCm39) utr 3 prime probably benign
R4119:Arhgap17 UTSW 7 122,906,217 (GRCm39) missense probably damaging 1.00
R4652:Arhgap17 UTSW 7 122,885,841 (GRCm39) utr 3 prime probably benign
R4687:Arhgap17 UTSW 7 122,920,826 (GRCm39) missense probably damaging 1.00
R4910:Arhgap17 UTSW 7 122,907,600 (GRCm39) missense probably damaging 1.00
R4960:Arhgap17 UTSW 7 122,886,149 (GRCm39) utr 3 prime probably benign
R4963:Arhgap17 UTSW 7 122,907,583 (GRCm39) missense possibly damaging 0.91
R5028:Arhgap17 UTSW 7 122,893,896 (GRCm39) missense probably benign 0.05
R5253:Arhgap17 UTSW 7 122,902,971 (GRCm39) missense probably benign 0.00
R5316:Arhgap17 UTSW 7 122,895,750 (GRCm39) missense possibly damaging 0.63
R5410:Arhgap17 UTSW 7 122,896,716 (GRCm39) critical splice donor site probably null
R5890:Arhgap17 UTSW 7 122,885,981 (GRCm39) utr 3 prime probably benign
R6367:Arhgap17 UTSW 7 122,907,586 (GRCm39) makesense probably null
R6376:Arhgap17 UTSW 7 122,899,727 (GRCm39) missense probably damaging 1.00
R6513:Arhgap17 UTSW 7 122,891,379 (GRCm39) missense possibly damaging 0.87
R6862:Arhgap17 UTSW 7 122,921,124 (GRCm39) missense probably damaging 0.98
R6962:Arhgap17 UTSW 7 122,895,655 (GRCm39) missense probably damaging 1.00
R7077:Arhgap17 UTSW 7 122,879,231 (GRCm39) missense unknown
R7178:Arhgap17 UTSW 7 122,884,581 (GRCm39) splice site probably null
R7342:Arhgap17 UTSW 7 122,926,467 (GRCm39) missense probably damaging 1.00
R7524:Arhgap17 UTSW 7 122,905,643 (GRCm39) missense probably damaging 1.00
R7812:Arhgap17 UTSW 7 122,879,290 (GRCm39) missense unknown
R7901:Arhgap17 UTSW 7 122,885,791 (GRCm39) utr 3 prime probably benign
R7950:Arhgap17 UTSW 7 122,886,039 (GRCm39) missense probably benign 0.23
R7952:Arhgap17 UTSW 7 122,885,914 (GRCm39) missense probably benign 0.23
R8842:Arhgap17 UTSW 7 122,893,750 (GRCm39) missense probably benign 0.07
R9460:Arhgap17 UTSW 7 122,879,286 (GRCm39) missense unknown
R9630:Arhgap17 UTSW 7 122,907,540 (GRCm39) missense probably benign 0.02
R9766:Arhgap17 UTSW 7 122,921,148 (GRCm39) missense probably benign 0.27
RF009:Arhgap17 UTSW 7 122,886,085 (GRCm39) small deletion probably benign
RF015:Arhgap17 UTSW 7 122,886,085 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- CACATGCTAGCTCAGTGTCC -3'
(R):5'- GTCTCACATATGGCCTGTTTGC -3'

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