Incidental Mutation 'R1036:Arhgap10'
ID 93796
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 039135-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R1036 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 77976995-78244582 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 78037398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 610 (P610L)
Ref Sequence ENSEMBL: ENSMUSP00000147485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076316] [ENSMUST00000210519] [ENSMUST00000210922]
AlphaFold Q6Y5D8
Predicted Effect probably damaging
Transcript: ENSMUST00000076316
AA Change: P610L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075658
Gene: ENSMUSG00000037148
AA Change: P610L

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 noncoding transcript
Transcript: ENSMUST00000209302
Predicted Effect possibly damaging
Transcript: ENSMUST00000210519
AA Change: P588L

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000210922
AA Change: P610L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.5957 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 86.2%
Validation Efficiency 100% (40/40)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Abca12 A G 1: 71,302,569 (GRCm39) probably null Het
Abcg1 C A 17: 31,330,243 (GRCm39) Q515K probably damaging Het
Acaa1b A T 9: 118,979,884 (GRCm39) probably benign Het
Adamts3 T C 5: 89,843,952 (GRCm39) probably benign Het
Aoah A C 13: 21,024,339 (GRCm39) probably benign Het
Casq2 G T 3: 102,049,531 (GRCm39) A295S probably damaging Het
Col6a4 A G 9: 105,945,397 (GRCm39) Y906H probably damaging Het
Dcaf13 T A 15: 39,007,113 (GRCm39) I349N probably damaging Het
Ecd A G 14: 20,383,386 (GRCm39) probably benign Het
Enpep C A 3: 129,077,758 (GRCm39) V620L probably damaging Het
Fbln7 A G 2: 128,735,815 (GRCm39) S268G possibly damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Gatd1 T A 7: 140,989,045 (GRCm39) T205S probably damaging Het
Gbe1 T A 16: 70,325,775 (GRCm39) V604E probably damaging Het
Ghsr T A 3: 27,428,869 (GRCm39) I298N probably damaging Het
Glis1 T C 4: 107,489,461 (GRCm39) Y683H probably benign Het
Gpr162 T A 6: 124,837,823 (GRCm39) I276F probably damaging Het
Hps6 A G 19: 45,992,680 (GRCm39) T206A probably benign Het
Kcnk10 T C 12: 98,462,445 (GRCm39) probably benign Het
Krt90 A G 15: 101,471,151 (GRCm39) V37A probably benign Het
Lmbr1 T C 5: 29,463,745 (GRCm39) K160E probably damaging Het
Nif3l1 A G 1: 58,487,032 (GRCm39) T73A probably damaging Het
Nup107 A T 10: 117,593,199 (GRCm39) D826E probably damaging Het
Nup210l C T 3: 90,100,247 (GRCm39) probably benign Het
Omd A G 13: 49,743,447 (GRCm39) R166G probably damaging Het
Plekha4 T C 7: 45,199,400 (GRCm39) probably benign Het
Ptgdr A G 14: 45,096,572 (GRCm39) S47P probably damaging Het
Sec24c A G 14: 20,742,965 (GRCm39) I940V probably benign Het
Shkbp1 A G 7: 27,044,721 (GRCm39) S457P possibly damaging Het
Skint1 T C 4: 111,876,493 (GRCm39) V138A possibly damaging Het
Slc38a9 A G 13: 112,838,193 (GRCm39) probably benign Het
Spata31e5 A G 1: 28,816,883 (GRCm39) L383P probably benign Het
Srsf7 A T 17: 80,513,266 (GRCm39) probably benign Het
Stau1 T C 2: 166,793,235 (GRCm39) K300R probably damaging Het
Stox1 A T 10: 62,503,674 (GRCm39) I127K probably damaging Het
Sympk G A 7: 18,782,378 (GRCm39) R832Q probably damaging Het
Usp3 A G 9: 66,437,513 (GRCm39) 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
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
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'- TCTCTCTGACCAGAAAGCGTCACC -3'
(R):5'- TGGGATTTGGCTCTGACCCATCAC -3'

Sequencing Primer
(F):5'- GAAAGCGTCACCCTCCCTG -3'
(R):5'- CAAGTCTACTGTGGCTGGACTC -3'
Posted On 2014-01-05