Incidental Mutation 'R4119:Arhgap17'
ID 315229
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 040992-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4119 (G1)
Quality Score 224
Status Validated
Chromosome 7
Chromosomal Location 122878441-122969138 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122906217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 313 (F313S)
Ref Sequence ENSEMBL: ENSMUSP00000145628 (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: F313S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095668
Gene: ENSMUSG00000030766
AA Change: F313S

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: F313S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102050
Gene: ENSMUSG00000030766
AA Change: F313S

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: F313S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128447
Gene: ENSMUSG00000030766
AA Change: F313S

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: F313S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000206117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206294
Predicted Effect probably damaging
Transcript: ENSMUST00000207010
AA Change: F313S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.3739 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (46/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A G 6: 124,333,863 (GRCm39) L39P probably damaging Het
Abcc1 A G 16: 14,211,877 (GRCm39) M138V probably benign Het
Abl1 T A 2: 31,691,739 (GRCm39) I1067N probably damaging Het
Adam6a C T 12: 113,508,194 (GRCm39) T189I probably benign Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Aplnr T C 2: 84,967,310 (GRCm39) Y112H possibly damaging Het
Arid1b T C 17: 5,046,069 (GRCm39) probably benign Het
Bcas1 G C 2: 170,220,735 (GRCm39) P394A probably benign Het
Ccdc116 A G 16: 16,960,051 (GRCm39) S213P probably damaging Het
Cdh15 T C 8: 123,590,162 (GRCm39) V365A probably damaging Het
Cenpf A G 1: 189,385,242 (GRCm39) I2346T probably benign Het
Chd7 A G 4: 8,785,658 (GRCm39) probably benign Het
Ezh2 A C 6: 47,521,482 (GRCm39) N390K probably benign Het
Fbxo7 C A 10: 85,857,759 (GRCm39) probably benign Het
Fibin A G 2: 110,193,035 (GRCm39) Y36H probably damaging Het
Gpr37 C T 6: 25,688,425 (GRCm39) R224H possibly damaging Het
Hars2 A T 18: 36,923,541 (GRCm39) N363I probably damaging Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Itpr1 G A 6: 108,371,316 (GRCm39) D1140N probably benign Het
Lrig2 A G 3: 104,374,511 (GRCm39) V190A probably benign Het
Ltk T A 2: 119,588,429 (GRCm39) probably benign Het
Morc2a C A 11: 3,633,868 (GRCm39) T660N probably benign Het
Msh3 A G 13: 92,490,519 (GRCm39) probably benign Het
Myo15b T C 11: 115,764,318 (GRCm39) S1311P probably benign Het
Nbeal1 A T 1: 60,331,029 (GRCm39) I2213L probably damaging Het
Or10ag57 T A 2: 87,218,187 (GRCm39) M46K possibly damaging Het
Or5d16 A G 2: 87,773,787 (GRCm39) Y62H probably damaging Het
P2ry12 T C 3: 59,125,262 (GRCm39) T138A probably benign Het
Pirb T C 7: 3,720,574 (GRCm39) D308G probably damaging Het
Pkn3 A G 2: 29,973,049 (GRCm39) probably benign Het
Ripor1 T A 8: 106,345,489 (GRCm39) probably benign Het
Ryr2 T C 13: 11,794,153 (GRCm39) T942A probably benign Het
Spata31e5 A T 1: 28,817,054 (GRCm39) V326D probably damaging Het
Sptbn5 T A 2: 119,895,010 (GRCm39) D798V possibly damaging Het
Synpo2 T A 3: 122,910,799 (GRCm39) D282V probably damaging Het
Tnik T C 3: 28,720,324 (GRCm39) F1287L probably damaging Het
Tshz1 T G 18: 84,032,314 (GRCm39) K698T probably benign Het
Ttc23l A C 15: 10,540,006 (GRCm39) V159G probably damaging Het
Urb2 T A 8: 124,773,979 (GRCm39) D1503E probably benign Het
Usp29 T A 7: 6,965,805 (GRCm39) N549K probably benign Het
Vmn2r39 G A 7: 9,026,673 (GRCm39) H443Y probably benign Het
Zfp24 A G 18: 24,147,626 (GRCm39) Y229H possibly damaging Het
Zfp472 T A 17: 33,197,189 (GRCm39) Y421* probably null Het
Zkscan3 T C 13: 21,578,119 (GRCm39) E256G possibly 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
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
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'- ATGCATGCTAGCTTCACCTTTG -3'
(R):5'- ATGGGTAGTGTGGCTCTCAC -3'

Sequencing Primer
(F):5'- CACCTTTGCTTGTAACAAGGACTGG -3'
(R):5'- TGGCTCTCACAAGCAAGATG -3'
Posted On 2015-05-14