Incidental Mutation 'R5781:Arhgap10'
ID 447732
Institutional Source Beutler Lab
Gene Symbol Arhgap10
Ensembl Gene ENSMUSG00000037148
Gene Name Rho GTPase activating protein 10
Synonyms PSGAP-s, A930033B01Rik, PSGAP-m
MMRRC Submission 043378-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R5781 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 77976995-78244582 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 78177336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 100 (Q100K)
Ref Sequence ENSEMBL: ENSMUSP00000147485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076316] [ENSMUST00000210519] [ENSMUST00000210922]
AlphaFold Q6Y5D8
Predicted Effect possibly damaging
Transcript: ENSMUST00000076316
AA Change: Q100K

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000075658
Gene: ENSMUSG00000037148
AA Change: Q100K

DomainStartEndE-ValueType
Pfam:BAR_3 6 249 3.3e-91 PFAM
PH 266 374 1.93e-6 SMART
RhoGAP 393 571 1.66e-63 SMART
low complexity region 633 649 N/A INTRINSIC
SH3 731 786 1.91e-13 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000210519
AA Change: Q100K

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210922
AA Change: Q100K

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit paraparesis, ataxic hindlimbs and splaying of hindlimbs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 109,992,813 (GRCm39) L1617P probably damaging Het
Abhd16b T C 2: 181,135,947 (GRCm39) V283A probably damaging Het
Adamts19 G T 18: 58,971,040 (GRCm39) R208L possibly damaging Het
Adamts4 T C 1: 171,078,584 (GRCm39) I56T possibly damaging Het
Alpk1 A C 3: 127,473,684 (GRCm39) V773G possibly damaging Het
Arhgef18 T A 8: 3,489,439 (GRCm39) probably null Het
Asb15 A T 6: 24,564,377 (GRCm39) H277L probably benign Het
Ascc3 T A 10: 50,514,074 (GRCm39) V291E probably damaging Het
Cnot6l A C 5: 96,234,024 (GRCm39) V329G probably benign Het
Col14a1 A G 15: 55,286,908 (GRCm39) T910A unknown Het
Dhdds G A 4: 133,724,141 (GRCm39) L58F probably damaging Het
Dsc2 A G 18: 20,165,567 (GRCm39) I846T probably benign Het
Evc A T 5: 37,483,914 (GRCm39) S129T probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fyco1 A G 9: 123,623,898 (GRCm39) V1377A probably damaging Het
Haus6 C T 4: 86,519,500 (GRCm39) A203T possibly damaging Het
Hkdc1 T G 10: 62,253,712 (GRCm39) D23A probably damaging Het
Hpdl C T 4: 116,677,775 (GRCm39) V229M probably damaging Het
Hspa12a T C 19: 58,810,518 (GRCm39) Y175C probably damaging Het
Hyal1 C T 9: 107,454,866 (GRCm39) P59S probably damaging Het
Itpr1 G A 6: 108,487,699 (GRCm39) C2374Y probably benign Het
Kmt2a A T 9: 44,759,139 (GRCm39) Y114* probably null Het
Mc2r A T 18: 68,540,466 (GRCm39) Y276N possibly damaging Het
Mc2r A T 18: 68,540,468 (GRCm39) I275K probably damaging Het
Mlycd A G 8: 120,137,019 (GRCm39) Y413C probably damaging Het
Mocs2 T G 13: 114,957,455 (GRCm39) S86R probably damaging Het
Msx2 C A 13: 53,626,644 (GRCm39) A35S probably benign Het
Or6c201 A T 10: 128,969,016 (GRCm39) L207H probably damaging Het
Pla2g4f C A 2: 120,135,504 (GRCm39) S390I probably damaging Het
Plcl1 C T 1: 55,735,148 (GRCm39) A163V possibly damaging Het
Pnn T C 12: 59,118,605 (GRCm39) V396A probably damaging Het
Rbmxl1 G A 8: 79,232,270 (GRCm39) probably benign Het
Recql G T 6: 142,311,344 (GRCm39) probably null Het
Rev3l T A 10: 39,699,089 (GRCm39) N1195K probably benign Het
Rfwd3 G A 8: 111,999,716 (GRCm39) T754M probably benign Het
Sctr A G 1: 119,959,350 (GRCm39) T98A probably damaging Het
Sdk1 T A 5: 141,921,803 (GRCm39) D6E probably benign Het
Smpdl3a T A 10: 57,684,034 (GRCm39) I264K possibly damaging Het
Spag6 A G 2: 18,736,804 (GRCm39) I154V probably benign Het
Tbc1d12 A C 19: 38,871,127 (GRCm39) T297P probably benign Het
Tgfb1 A G 7: 25,396,385 (GRCm39) D226G probably benign Het
Ubr3 G T 2: 69,846,588 (GRCm39) probably null Het
Ubr4 T C 4: 139,195,407 (GRCm39) Y1210H probably damaging Het
Ubr5 T C 15: 38,006,785 (GRCm39) T1157A probably benign Het
Vmn2r120 T G 17: 57,831,938 (GRCm39) T284P probably benign Het
Vps13b G T 15: 35,794,181 (GRCm39) A2286S probably damaging Het
Zcchc14 A T 8: 122,331,332 (GRCm39) probably benign Het
Zfr2 T A 10: 81,079,547 (GRCm39) V362E probably benign Het
Other mutations in Arhgap10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01529:Arhgap10 APN 8 78,072,920 (GRCm39) missense possibly damaging 0.80
IGL01689:Arhgap10 APN 8 78,137,763 (GRCm39) splice site probably benign
IGL01802:Arhgap10 APN 8 78,146,714 (GRCm39) missense probably damaging 0.99
IGL01832:Arhgap10 APN 8 77,985,758 (GRCm39) missense probably benign 0.00
IGL02291:Arhgap10 APN 8 78,109,344 (GRCm39) splice site probably benign
IGL02834:Arhgap10 APN 8 78,091,729 (GRCm39) missense probably damaging 1.00
IGL02928:Arhgap10 APN 8 77,977,539 (GRCm39) unclassified probably benign
IGL03149:Arhgap10 APN 8 78,136,167 (GRCm39) splice site probably benign
IGL03215:Arhgap10 APN 8 78,003,781 (GRCm39) missense probably benign
IGL03331:Arhgap10 APN 8 78,146,711 (GRCm39) missense probably damaging 0.99
R0276:Arhgap10 UTSW 8 78,140,210 (GRCm39) missense probably benign 0.11
R0376:Arhgap10 UTSW 8 78,177,453 (GRCm39) splice site probably benign
R0454:Arhgap10 UTSW 8 77,977,594 (GRCm39) missense probably damaging 0.97
R0714:Arhgap10 UTSW 8 78,078,316 (GRCm39) splice site probably benign
R1033:Arhgap10 UTSW 8 77,983,976 (GRCm39) missense possibly damaging 0.80
R1036:Arhgap10 UTSW 8 78,037,398 (GRCm39) missense probably damaging 0.98
R1083:Arhgap10 UTSW 8 78,244,378 (GRCm39) missense probably damaging 1.00
R1596:Arhgap10 UTSW 8 78,177,326 (GRCm39) missense possibly damaging 0.93
R1710:Arhgap10 UTSW 8 78,085,216 (GRCm39) nonsense probably null
R1918:Arhgap10 UTSW 8 77,985,708 (GRCm39) missense probably benign
R1937:Arhgap10 UTSW 8 78,071,282 (GRCm39) missense probably damaging 1.00
R1959:Arhgap10 UTSW 8 78,136,255 (GRCm39) missense possibly damaging 0.78
R2348:Arhgap10 UTSW 8 78,177,555 (GRCm39) splice site probably benign
R3703:Arhgap10 UTSW 8 77,985,685 (GRCm39) critical splice donor site probably null
R3979:Arhgap10 UTSW 8 78,147,354 (GRCm39) missense probably benign 0.01
R4854:Arhgap10 UTSW 8 78,146,718 (GRCm39) nonsense probably null
R4855:Arhgap10 UTSW 8 78,159,367 (GRCm39) critical splice donor site probably null
R4928:Arhgap10 UTSW 8 78,152,957 (GRCm39) critical splice donor site probably null
R5033:Arhgap10 UTSW 8 78,109,386 (GRCm39) missense probably damaging 0.99
R5532:Arhgap10 UTSW 8 78,146,701 (GRCm39) missense probably benign 0.19
R5644:Arhgap10 UTSW 8 78,137,684 (GRCm39) missense probably benign 0.00
R5824:Arhgap10 UTSW 8 78,085,181 (GRCm39) nonsense probably null
R5861:Arhgap10 UTSW 8 78,037,393 (GRCm39) missense probably damaging 1.00
R5872:Arhgap10 UTSW 8 78,071,267 (GRCm39) critical splice donor site probably null
R6360:Arhgap10 UTSW 8 77,985,831 (GRCm39) nonsense probably null
R6423:Arhgap10 UTSW 8 78,244,386 (GRCm39) missense probably damaging 1.00
R6694:Arhgap10 UTSW 8 78,137,692 (GRCm39) missense probably benign 0.00
R6900:Arhgap10 UTSW 8 78,037,491 (GRCm39) missense probably damaging 1.00
R6936:Arhgap10 UTSW 8 78,037,376 (GRCm39) nonsense probably null
R7001:Arhgap10 UTSW 8 78,091,717 (GRCm39) missense possibly damaging 0.51
R7150:Arhgap10 UTSW 8 77,977,583 (GRCm39) missense probably damaging 1.00
R7461:Arhgap10 UTSW 8 78,115,326 (GRCm39) missense probably damaging 0.99
R7525:Arhgap10 UTSW 8 78,146,699 (GRCm39) critical splice donor site probably null
R8051:Arhgap10 UTSW 8 78,244,309 (GRCm39) missense probably damaging 0.97
R8081:Arhgap10 UTSW 8 78,109,375 (GRCm39) missense possibly damaging 0.68
R8175:Arhgap10 UTSW 8 78,037,471 (GRCm39) missense probably benign 0.03
R8262:Arhgap10 UTSW 8 78,037,468 (GRCm39) missense probably benign
R8702:Arhgap10 UTSW 8 77,985,732 (GRCm39) missense probably benign
R8778:Arhgap10 UTSW 8 78,140,240 (GRCm39) missense probably damaging 1.00
R9015:Arhgap10 UTSW 8 77,985,687 (GRCm39) missense probably benign
R9113:Arhgap10 UTSW 8 77,985,701 (GRCm39) missense probably damaging 1.00
R9275:Arhgap10 UTSW 8 78,137,665 (GRCm39) missense probably damaging 1.00
R9457:Arhgap10 UTSW 8 78,111,415 (GRCm39) missense probably benign 0.43
R9623:Arhgap10 UTSW 8 77,985,786 (GRCm39) missense probably benign
Z1176:Arhgap10 UTSW 8 78,159,434 (GRCm39) missense probably damaging 0.97
Z1176:Arhgap10 UTSW 8 78,003,804 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CAGAAACTTCAGCAGAGAGGTC -3'
(R):5'- TCGCTCAGAGACTTCAAGTTCG -3'

Sequencing Primer
(F):5'- GTCCAGGACCTTGACCAAG -3'
(R):5'- CAGAGACTTCAAGTTCGAGTTTATC -3'
Posted On 2016-12-15