Incidental Mutation 'R6513:Arhgap17'
ID 520010
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 044640-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6513 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 122878441-122969138 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122891379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 592 (R592G)
Ref Sequence ENSEMBL: ENSMUSP00000128447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098060] [ENSMUST00000106442] [ENSMUST00000167309] [ENSMUST00000205262] [ENSMUST00000206117] [ENSMUST00000207010]
AlphaFold Q3UIA2
Predicted Effect probably benign
Transcript: ENSMUST00000098060
AA Change: R514G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000095668
Gene: ENSMUSG00000030766
AA Change: R514G

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 possibly damaging
Transcript: ENSMUST00000106442
AA Change: R592G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102050
Gene: ENSMUSG00000030766
AA Change: R592G

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 possibly damaging
Transcript: ENSMUST00000167309
AA Change: R592G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128447
Gene: ENSMUSG00000030766
AA Change: R592G

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 possibly damaging
Transcript: ENSMUST00000205262
AA Change: R514G

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205785
Predicted Effect probably benign
Transcript: ENSMUST00000206117
Predicted Effect possibly damaging
Transcript: ENSMUST00000207010
AA Change: R514G

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206294
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T C 16: 90,852,654 (GRCm39) S161G probably benign Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Ankrd11 A G 8: 123,616,919 (GRCm39) V2290A probably benign Het
Aox4 A G 1: 58,252,212 (GRCm39) N29S probably benign Het
Caap1 A T 4: 94,389,640 (GRCm39) D231E possibly damaging Het
Cabp1 T A 5: 115,307,193 (GRCm39) M165L possibly damaging Het
Calhm4 T A 10: 33,917,630 (GRCm39) R274* probably null Het
Cep72 A T 13: 74,206,582 (GRCm39) L73H probably damaging Het
Cfap74 A G 4: 155,525,743 (GRCm39) S731G probably null Het
Dsc2 T C 18: 20,179,295 (GRCm39) I258V probably benign Het
Dsg1c T G 18: 20,407,687 (GRCm39) N344K probably benign Het
Enah A G 1: 181,841,920 (GRCm39) probably benign Het
Fbn1 T A 2: 125,225,591 (GRCm39) S554C probably damaging Het
Fkrp C A 7: 16,545,037 (GRCm39) R275L possibly damaging Het
Gbp4 C T 5: 105,270,986 (GRCm39) G215D possibly damaging Het
Gli2 G A 1: 118,783,284 (GRCm39) L239F probably damaging Het
Gpr146 A G 5: 139,378,573 (GRCm39) D125G probably damaging Het
Hectd4 C A 5: 121,494,259 (GRCm39) probably null Het
Invs G A 4: 48,397,534 (GRCm39) V370I possibly damaging Het
Kdm2b A G 5: 123,018,302 (GRCm39) V1040A probably damaging Het
Kidins220 T A 12: 25,088,434 (GRCm39) V1059D possibly damaging Het
Kif26a T A 12: 112,141,926 (GRCm39) S727T probably damaging Het
Kifbp T C 10: 62,410,813 (GRCm39) probably null Het
Klk1b27 A G 7: 43,705,169 (GRCm39) H112R probably benign Het
Krt72 T G 15: 101,685,187 (GRCm39) probably null Het
Lactb C T 9: 66,878,172 (GRCm39) R219H probably damaging Het
Lrig2 A T 3: 104,373,045 (GRCm39) I612N probably damaging Het
Meaf6 A C 4: 124,983,697 (GRCm39) N51T probably damaging Het
Mtap A G 4: 89,066,498 (GRCm39) T36A possibly damaging Het
Myo3a G A 2: 22,412,143 (GRCm39) G713S probably damaging Het
Nr4a3 C T 4: 48,083,255 (GRCm39) T596I probably damaging Het
Or10ak14 A T 4: 118,611,224 (GRCm39) C172* probably null Het
Or4f14 C G 2: 111,743,228 (GRCm39) G16R possibly damaging Het
Pam A G 1: 97,765,752 (GRCm39) V759A possibly damaging Het
Pcare T A 17: 72,051,701 (GRCm39) E1217V probably damaging Het
Pds5a T A 5: 65,772,944 (GRCm39) I1220F probably benign Het
Phldb2 T A 16: 45,568,240 (GRCm39) M1222L possibly damaging Het
Phospho1 C T 11: 95,721,513 (GRCm39) A61V possibly damaging Het
Pnpla7 G A 2: 24,906,550 (GRCm39) V638I possibly damaging Het
Pramel34 C A 5: 93,785,391 (GRCm39) probably null Het
Ptf1a T A 2: 19,451,848 (GRCm39) D282E probably damaging Het
Ptgs2 A T 1: 149,975,879 (GRCm39) probably benign Het
Racgap1 T C 15: 99,522,156 (GRCm39) R471G probably damaging Het
Rptn T C 3: 93,303,419 (GRCm39) S251P possibly damaging Het
Shcbp1 T C 8: 4,794,507 (GRCm39) M429V probably benign Het
Shprh T C 10: 11,062,637 (GRCm39) L1248P probably damaging Het
Son T C 16: 91,456,835 (GRCm39) probably benign Het
Sppl3 T C 5: 115,233,995 (GRCm39) L355P probably damaging Het
Tbc1d31 A T 15: 57,818,778 (GRCm39) R794W probably damaging Het
Telo2 T C 17: 25,320,386 (GRCm39) Y766C probably damaging Het
Tfr2 A G 5: 137,572,793 (GRCm39) probably null Het
Tle4 T C 19: 14,429,056 (GRCm39) D722G probably damaging Het
Tprg1l A G 4: 154,243,862 (GRCm39) V98A probably benign Het
Trak1 C T 9: 121,272,822 (GRCm39) R237C probably benign Het
Vmn2r113 T C 17: 23,177,715 (GRCm39) I833T probably damaging Het
Vmn2r118 T A 17: 55,915,093 (GRCm39) S518C probably damaging Het
Vmn2r49 A G 7: 9,710,524 (GRCm39) I736T probably damaging Het
Wdr38 T A 2: 38,889,970 (GRCm39) probably null Het
Wee2 A G 6: 40,429,553 (GRCm39) E180G probably benign Het
Zbtb1 T C 12: 76,432,604 (GRCm39) S197P possibly damaging Het
Zc3h7a T C 16: 10,976,629 (GRCm39) probably null Het
Zfp516 T A 18: 82,973,835 (GRCm39) L11Q probably damaging Het
Zfp623 G A 15: 75,819,317 (GRCm39) R91H probably benign Het
Zkscan7 G A 9: 122,725,170 (GRCm39) R713Q 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
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
R7205:Arhgap17 UTSW 7 122,905,661 (GRCm39) missense probably damaging 1.00
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'- GCAGTAGCTCCCAGAAGTTC -3'
(R):5'- CTCAGGAAGGTGTTGACAGTTAG -3'

Sequencing Primer
(F):5'- GCAGTAGCTCCCAGAAGTTCTTATAC -3'
(R):5'- CATTTTGTATACAGGGCTGCCACAG -3'
Posted On 2018-06-06