Incidental Mutation 'R9766:Arhgap17'
ID 733273
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9766 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 122878441-122969138 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122921148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 113 (V113A)
Ref Sequence ENSEMBL: ENSMUSP00000102050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098060] [ENSMUST00000106442] [ENSMUST00000167309] [ENSMUST00000205262] [ENSMUST00000205936] [ENSMUST00000206117] [ENSMUST00000207010]
AlphaFold Q3UIA2
Predicted Effect probably benign
Transcript: ENSMUST00000098060
AA Change: V113A

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000095668
Gene: ENSMUSG00000030766
AA Change: V113A

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 benign
Transcript: ENSMUST00000106442
AA Change: V113A

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102050
Gene: ENSMUSG00000030766
AA Change: V113A

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 benign
Transcript: ENSMUST00000167309
AA Change: V113A

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128447
Gene: ENSMUSG00000030766
AA Change: V113A

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 benign
Transcript: ENSMUST00000205262
AA Change: V113A

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000205936
Predicted Effect probably benign
Transcript: ENSMUST00000206117
AA Change: V113A

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000207010
AA Change: V113A

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency
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
3425401B19Rik A G 14: 32,385,788 (GRCm39) V59A probably benign Het
Aatk A T 11: 119,902,565 (GRCm39) H610Q probably benign Het
Acox1 G A 11: 116,071,867 (GRCm39) A187V probably damaging Het
Acsbg3 A G 17: 57,189,177 (GRCm39) Y195C probably benign Het
AI661453 C T 17: 47,757,570 (GRCm39) R76W probably damaging Het
Anapc1 C T 2: 128,500,221 (GRCm39) R808Q probably damaging Het
Ankrd26 T C 6: 118,500,067 (GRCm39) T1135A possibly damaging Het
Art3 T C 5: 92,562,138 (GRCm39) C379R unknown Het
Bltp3a T C 17: 28,105,799 (GRCm39) L775P probably damaging Het
Bmp5 A G 9: 75,800,982 (GRCm39) I371V probably damaging Het
Ccdc88b T A 19: 6,833,096 (GRCm39) E281V probably damaging Het
Ces1e A T 8: 93,946,031 (GRCm39) Y171N probably damaging Het
Cib3 A T 8: 72,961,034 (GRCm39) F68I possibly damaging Het
Crtac1 A T 19: 42,402,557 (GRCm39) L17Q possibly damaging Het
Crybg3 A T 16: 59,376,207 (GRCm39) S1682R probably benign Het
Ddx60 G A 8: 62,465,312 (GRCm39) G1323D probably damaging Het
Dock3 A C 9: 106,788,483 (GRCm39) D161E probably benign Het
Dpep3 A C 8: 106,705,369 (GRCm39) L127R probably damaging Het
Dus2 A G 8: 106,772,568 (GRCm39) D226G probably damaging Het
Ebna1bp2 T C 4: 118,480,821 (GRCm39) V184A possibly damaging Het
Edem1 T A 6: 108,823,648 (GRCm39) I348N probably damaging Het
Efcab8 A T 2: 153,656,362 (GRCm39) M599L unknown Het
Eif2ak4 A T 2: 118,261,313 (GRCm39) K618* probably null Het
Fbxw27 T C 9: 109,602,215 (GRCm39) K253E possibly damaging Het
Fgf5 A G 5: 98,423,113 (GRCm39) E166G possibly damaging Het
Flot1 G T 17: 36,141,555 (GRCm39) E321* probably null Het
Gm14443 T C 2: 175,012,248 (GRCm39) E66G probably benign Het
Gprc6a G A 10: 51,491,884 (GRCm39) P622S probably damaging Het
Gsta2 A T 9: 78,244,876 (GRCm39) Y79* probably null Het
Hecw2 A G 1: 53,904,287 (GRCm39) S1154P probably damaging Het
Hrob A T 11: 102,146,586 (GRCm39) Q287H possibly damaging Het
Kcnd2 T C 6: 21,216,367 (GRCm39) S24P probably benign Het
Knl1 A G 2: 118,900,381 (GRCm39) D694G probably damaging Het
L1td1 T C 4: 98,624,753 (GRCm39) I316T probably benign Het
Lrsam1 G T 2: 32,818,077 (GRCm39) Q660K probably benign Het
Muc16 T A 9: 18,548,153 (GRCm39) T6047S probably benign Het
Muc16 T A 9: 18,552,383 (GRCm39) T4637S probably benign Het
Myo5a T C 9: 75,078,914 (GRCm39) Y891H probably damaging Het
Nkd2 G T 13: 73,995,131 (GRCm39) D22E possibly damaging Het
Patl2 A T 2: 121,954,212 (GRCm39) V453E probably damaging Het
Pcnx2 A G 8: 126,488,313 (GRCm39) Y1744H probably damaging Het
Phf8-ps T G 17: 33,285,647 (GRCm39) N385T probably damaging Het
Pira2 T A 7: 3,845,517 (GRCm39) H289L possibly damaging Het
Pitpnm1 T C 19: 4,158,117 (GRCm39) I569T probably benign Het
Ppp4r4 T C 12: 103,562,735 (GRCm39) V568A probably benign Het
Ptf1a G A 2: 19,451,062 (GRCm39) G131S probably benign Het
Rasgrf2 G T 13: 92,160,188 (GRCm39) H396N probably damaging Het
Rfx1 C T 8: 84,814,376 (GRCm39) T315M probably damaging Het
Rnf207 C A 4: 152,400,402 (GRCm39) R148L probably damaging Het
Scn11a T G 9: 119,584,181 (GRCm39) N1478T probably damaging Het
Sdr39u1 C T 14: 56,135,194 (GRCm39) V250I probably benign Het
Serinc3 T C 2: 163,471,095 (GRCm39) T276A probably damaging Het
Speer4a3 AACT A 5: 26,155,849 (GRCm39) probably benign Het
Stambp C A 6: 83,534,469 (GRCm39) A273S probably benign Het
Taf2 T C 15: 54,910,881 (GRCm39) probably null Het
Tex26 A T 5: 149,386,642 (GRCm39) Y232F probably damaging Het
Tmem258 T C 19: 10,184,578 (GRCm39) L55P probably damaging Het
Trappc8 A G 18: 20,979,630 (GRCm39) I755T possibly damaging Het
Ubr4 T C 4: 139,194,595 (GRCm39) Y1163H unknown Het
Usp14 G A 18: 10,005,630 (GRCm39) T254I probably benign Het
Vcan A G 13: 89,839,247 (GRCm39) L2099P probably benign Het
Wdfy3 C T 5: 102,042,866 (GRCm39) V1962I possibly damaging Het
Zfp407 T C 18: 84,577,574 (GRCm39) T1180A probably benign Het
Zfp644 C A 5: 106,784,691 (GRCm39) G619C probably damaging 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
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
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'- TGGGAATCTCCACCTGGAAG -3'
(R):5'- CCCAAAGCTGGACTTGTATTTTAGG -3'

Sequencing Primer
(F):5'- GCTGAATTCTTCAAACAGCAATTACC -3'
(R):5'- GACTTGTATTTTAGGTGATAGCACAC -3'
Posted On 2022-11-14