Incidental Mutation 'R7461:Arhgap10'
ID 578449
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 045535-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R7461 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 77976995-78244582 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78115326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 358 (E358G)
Ref Sequence ENSEMBL: ENSMUSP00000075658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076316] [ENSMUST00000210519] [ENSMUST00000210922]
AlphaFold Q6Y5D8
Predicted Effect probably damaging
Transcript: ENSMUST00000076316
AA Change: E358G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075658
Gene: ENSMUSG00000037148
AA Change: E358G

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 probably damaging
Transcript: ENSMUST00000210519
AA Change: E358G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210922
AA Change: E358G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Adgrb2 CTATA CTATATA 4: 129,915,006 (GRCm39) probably benign Het
Akt2 A G 7: 27,336,595 (GRCm39) I448V probably benign Het
Anapc5 G A 5: 122,956,928 (GRCm39) T117M probably damaging Het
C1qtnf6 T A 15: 78,411,549 (GRCm39) K42N probably benign Het
Cacna1d A T 14: 29,788,120 (GRCm39) D1605E probably benign Het
Cdkl1 T A 12: 69,803,235 (GRCm39) I214L probably benign Het
Celsr2 C T 3: 108,302,956 (GRCm39) G2506R probably damaging Het
Cenpj G A 14: 56,764,501 (GRCm39) R1304* probably null Het
Cfap58 A G 19: 47,970,561 (GRCm39) D593G possibly damaging Het
Crip2 T C 12: 113,107,777 (GRCm39) probably null Het
Crocc2 G T 1: 93,122,311 (GRCm39) A735S possibly damaging Het
Dcc A T 18: 71,439,105 (GRCm39) L1279H probably damaging Het
Dnah2 A G 11: 69,439,816 (GRCm39) probably null Het
Dpp8 C T 9: 64,960,402 (GRCm39) T311M possibly damaging Het
Eps15 T C 4: 109,186,922 (GRCm39) S330P probably damaging Het
Exoc2 C T 13: 31,066,255 (GRCm39) V474I probably benign Het
Fmn1 A G 2: 113,194,416 (GRCm39) T39A unknown Het
Foxn2 T C 17: 88,794,311 (GRCm39) I416T possibly damaging Het
Gbp8 T C 5: 105,178,880 (GRCm39) E145G probably damaging Het
Gjd2 A C 2: 113,841,599 (GRCm39) S293A possibly damaging Het
Gm3676 T A 14: 41,365,233 (GRCm39) I141L probably benign Het
Gm4131 A G 14: 62,718,538 (GRCm39) Y23H possibly damaging Het
Gucy1b1 T A 3: 81,947,054 (GRCm39) D385V possibly damaging Het
Hdac2 T C 10: 36,865,232 (GRCm39) S149P probably damaging Het
Igsf9b A T 9: 27,245,418 (GRCm39) R1128S probably benign Het
Invs A G 4: 48,392,668 (GRCm39) H294R probably damaging Het
Itgbl1 T A 14: 124,065,211 (GRCm39) S122T possibly damaging Het
Kansl3 G A 1: 36,382,876 (GRCm39) S812F probably damaging Het
Kcnt1 A T 2: 25,791,358 (GRCm39) H567L probably benign Het
Klhl30 G T 1: 91,285,130 (GRCm39) V329F possibly damaging Het
Krt33a A G 11: 99,902,765 (GRCm39) I353T probably damaging Het
Lrrc37 G T 11: 103,507,116 (GRCm39) H1617Q unknown Het
Lrrc7 T C 3: 157,892,657 (GRCm39) T331A probably benign Het
Megf10 G T 18: 57,385,925 (GRCm39) V313F probably damaging Het
Myo15a A G 11: 60,395,978 (GRCm39) T1438A Het
Myocd A G 11: 65,109,429 (GRCm39) L114P probably damaging Het
Or5b21 A T 19: 12,839,141 (GRCm39) M1L probably benign Het
Pde4b A G 4: 102,112,503 (GRCm39) E29G probably damaging Het
Por G T 5: 135,758,358 (GRCm39) A112S probably damaging Het
Prkcq T C 2: 11,304,221 (GRCm39) F651S probably damaging Het
Selenoi A G 5: 30,471,926 (GRCm39) I376V possibly damaging Het
Setbp1 A C 18: 78,899,707 (GRCm39) M1320R probably benign Het
Skint6 A T 4: 113,034,243 (GRCm39) probably null Het
Tdrd6 T C 17: 43,938,817 (GRCm39) T744A probably benign Het
Tmem209 C T 6: 30,508,469 (GRCm39) W61* probably null Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Top1 A T 2: 160,554,762 (GRCm39) probably null Het
Tradd T C 8: 105,987,196 (GRCm39) K37E possibly damaging Het
Ttc28 C A 5: 111,371,995 (GRCm39) L846M probably damaging Het
Umodl1 T A 17: 31,207,031 (GRCm39) C807* probably null Het
Upf2 T A 2: 5,978,347 (GRCm39) S404T unknown Het
Wscd1 T C 11: 71,650,799 (GRCm39) L42P possibly damaging 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
R5781:Arhgap10 UTSW 8 78,177,336 (GRCm39) missense possibly damaging 0.56
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
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'- AGTTCCAAGATGCGTTCAAACAC -3'
(R):5'- AATCATTGGGGTGGCTGTAC -3'

Sequencing Primer
(F):5'- GATGCGTTCAAACACCAGCTC -3'
(R):5'- ATCATTGGGGTGGCTGTACAATAATG -3'
Posted On 2019-10-07