Incidental Mutation 'R2074:Arhgap45'
ID 227450
Institutional Source Beutler Lab
Gene Symbol Arhgap45
Ensembl Gene ENSMUSG00000035697
Gene Name Rho GTPase activating protein 45
Synonyms 6330406L22Rik, Hmha1
MMRRC Submission 040079-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2074 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 79852505-79867305 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79863014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 730 (Y730C)
Ref Sequence ENSEMBL: ENSMUSP00000101012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043311] [ENSMUST00000099501] [ENSMUST00000105373]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000043311
AA Change: Y603C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
AA Change: Y603C

DomainStartEndE-ValueType
low complexity region 142 153 N/A INTRINSIC
FCH 157 244 4.14e-17 SMART
low complexity region 255 269 N/A INTRINSIC
low complexity region 309 324 N/A INTRINSIC
low complexity region 330 345 N/A INTRINSIC
low complexity region 527 536 N/A INTRINSIC
C1 582 628 3.15e-8 SMART
RhoGAP 653 852 2.73e-73 SMART
low complexity region 856 869 N/A INTRINSIC
Blast:RhoGAP 876 999 1e-21 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000099501
AA Change: Y719C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697
AA Change: Y719C

DomainStartEndE-ValueType
low complexity region 258 269 N/A INTRINSIC
FCH 273 360 4.14e-17 SMART
low complexity region 371 385 N/A INTRINSIC
low complexity region 425 440 N/A INTRINSIC
low complexity region 446 461 N/A INTRINSIC
low complexity region 643 652 N/A INTRINSIC
C1 698 744 3.15e-8 SMART
RhoGAP 769 968 2.73e-73 SMART
low complexity region 972 985 N/A INTRINSIC
Blast:RhoGAP 992 1115 1e-21 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000105373
AA Change: Y730C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697
AA Change: Y730C

DomainStartEndE-ValueType
low complexity region 269 280 N/A INTRINSIC
FCH 284 371 4.14e-17 SMART
low complexity region 382 396 N/A INTRINSIC
low complexity region 436 451 N/A INTRINSIC
low complexity region 457 472 N/A INTRINSIC
low complexity region 654 663 N/A INTRINSIC
C1 709 755 3.15e-8 SMART
RhoGAP 780 979 2.73e-73 SMART
low complexity region 983 996 N/A INTRINSIC
Blast:RhoGAP 1003 1126 1e-21 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150022
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace C T 11: 105,867,449 (GRCm39) Q484* probably null Het
Ackr3 T C 1: 90,141,703 (GRCm39) I54T probably damaging Het
Aco1 G A 4: 40,183,605 (GRCm39) G508S probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Ankef1 T C 2: 136,387,658 (GRCm39) S192P possibly damaging Het
Ankrd16 T G 2: 11,794,559 (GRCm39) C315G possibly damaging Het
Ankzf1 T C 1: 75,172,887 (GRCm39) S328P probably damaging Het
Aqp2 A G 15: 99,480,981 (GRCm39) I176V probably benign Het
Armh3 A T 19: 45,953,820 (GRCm39) I188K probably damaging Het
Asxl2 A G 12: 3,543,779 (GRCm39) E316G probably damaging Het
Btbd17 A T 11: 114,682,778 (GRCm39) probably null Het
Calu A G 6: 29,372,614 (GRCm39) Y263C probably damaging Het
Ccdc122 T C 14: 77,306,391 (GRCm39) probably null Het
Cenpf T C 1: 189,389,098 (GRCm39) K1578R probably damaging Het
Cep120 A G 18: 53,852,384 (GRCm39) V498A possibly damaging Het
Ces1a T A 8: 93,774,703 (GRCm39) N12Y probably benign Het
Chmp1a A T 8: 123,934,761 (GRCm39) M65K probably damaging Het
Cnot1 G T 8: 96,466,461 (GRCm39) T1592K possibly damaging Het
Cps1 T A 1: 67,243,797 (GRCm39) I1091N probably benign Het
Dhx32 T C 7: 133,323,021 (GRCm39) N731S probably benign Het
Dhx33 G A 11: 70,890,669 (GRCm39) R177W probably damaging Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Dnah10 T C 5: 124,891,738 (GRCm39) S3259P probably damaging Het
Dnah7a T C 1: 53,496,855 (GRCm39) I3134V probably benign Het
Dock3 A G 9: 106,870,662 (GRCm39) F584S possibly damaging Het
Dtnb A G 12: 3,831,273 (GRCm39) T658A probably benign Het
Duox2 T A 2: 122,125,639 (GRCm39) S323C probably damaging Het
Elovl3 A T 19: 46,120,606 (GRCm39) E33V probably damaging Het
Enpp5 T C 17: 44,396,264 (GRCm39) F392S probably benign Het
Eogt T C 6: 97,108,337 (GRCm39) T235A probably benign Het
Etv3 T C 3: 87,443,526 (GRCm39) V370A probably benign Het
Ewsr1 C T 11: 5,021,555 (GRCm39) R466H unknown Het
Fcgbp G A 7: 27,819,814 (GRCm39) G2514S probably damaging Het
Flt1 A T 5: 147,536,416 (GRCm39) D808E possibly damaging Het
Glg1 C T 8: 111,895,303 (GRCm39) G836E probably damaging Het
Gm17334 A G 11: 53,663,654 (GRCm39) probably benign Het
Gpbp1 A T 13: 111,589,941 (GRCm39) D51E probably benign Het
Il12rb2 C G 6: 67,337,536 (GRCm39) C115S probably damaging Het
Il1rl1 T C 1: 40,501,204 (GRCm39) S527P probably damaging Het
Ireb2 A G 9: 54,788,733 (GRCm39) D69G probably benign Het
Kif5a T C 10: 127,081,238 (GRCm39) D232G probably damaging Het
M1ap A G 6: 82,958,863 (GRCm39) I165V probably benign Het
Mff T A 1: 82,729,421 (GRCm39) L287H probably damaging Het
Mmp27 A G 9: 7,577,740 (GRCm39) M311V possibly damaging Het
Mpped2 T A 2: 106,575,147 (GRCm39) Y77* probably null Het
Mybbp1a G A 11: 72,332,271 (GRCm39) S21N probably benign Het
Obscn G C 11: 58,960,107 (GRCm39) I3253M probably damaging Het
Obscn T C 11: 59,023,478 (GRCm39) D633G probably damaging Het
Olr1 C T 6: 129,479,057 (GRCm39) V54I probably benign Het
Or10j3b A T 1: 173,043,377 (GRCm39) D53V probably damaging Het
Or4a74 A G 2: 89,439,822 (GRCm39) V208A probably benign Het
Phlpp2 T C 8: 110,655,124 (GRCm39) S605P possibly damaging Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Potefam1 T C 2: 111,030,763 (GRCm39) E382G probably damaging Het
Prss8 C A 7: 127,526,266 (GRCm39) R148L possibly damaging Het
Psg27 T C 7: 18,294,342 (GRCm39) D355G probably damaging Het
Rabgef1 C A 5: 130,216,402 (GRCm39) Q52K probably benign Het
Rnf6 C T 5: 146,147,716 (GRCm39) R434H probably damaging Het
Rpl26 A G 11: 68,794,099 (GRCm39) E88G probably benign Het
Rpn1 T A 6: 88,077,944 (GRCm39) L460Q probably damaging Het
Sap130 T A 18: 31,781,332 (GRCm39) I165N probably damaging Het
Sash1 A G 10: 8,632,461 (GRCm39) V258A probably damaging Het
Scarb1 G T 5: 125,371,207 (GRCm39) N288K probably benign Het
Sec16a A G 2: 26,330,251 (GRCm39) I588T probably damaging Het
Shank2 C A 7: 143,963,277 (GRCm39) S295Y probably damaging Het
Slc15a3 T C 19: 10,834,663 (GRCm39) S515P probably damaging Het
Slc25a13 A T 6: 6,114,017 (GRCm39) M285K probably benign Het
Slc39a11 A G 11: 113,354,800 (GRCm39) I143T probably null Het
Smarcd2 A T 11: 106,156,133 (GRCm39) L42* probably null Het
Smc3 A G 19: 53,619,964 (GRCm39) D620G probably benign Het
Spata31g1 A T 4: 42,974,171 (GRCm39) D1168V probably benign Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Taar4 A C 10: 23,837,071 (GRCm39) Q227P probably benign Het
Tasor T A 14: 27,183,170 (GRCm39) I543K probably benign Het
Tecta G T 9: 42,248,575 (GRCm39) Y1937* probably null Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tmem130 T A 5: 144,692,084 (GRCm39) T107S possibly damaging Het
Tmem132d T C 5: 128,346,195 (GRCm39) D109G probably damaging Het
Tmem81 A G 1: 132,435,644 (GRCm39) Y150C probably damaging Het
Tnrc18 C T 5: 142,745,461 (GRCm39) probably null Het
Trim43a A G 9: 88,468,147 (GRCm39) K256R possibly damaging Het
Trpm6 A G 19: 18,855,103 (GRCm39) T1921A probably damaging Het
Tubb3 C T 8: 124,148,009 (GRCm39) A314V probably damaging Het
Ube3b A C 5: 114,553,316 (GRCm39) N896T probably benign Het
Unc80 G A 1: 66,718,903 (GRCm39) probably null Het
Upb1 A G 10: 75,260,347 (GRCm39) T134A probably damaging Het
Vmn2r15 A T 5: 109,434,619 (GRCm39) M695K possibly damaging Het
Wwc1 G T 11: 35,780,180 (GRCm39) D258E possibly damaging Het
Zfp619 T A 7: 39,184,185 (GRCm39) Y72N probably benign Het
Zfp672 G T 11: 58,207,462 (GRCm39) H286Q possibly damaging Het
Other mutations in Arhgap45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01360:Arhgap45 APN 10 79,864,482 (GRCm39) splice site probably benign
IGL01414:Arhgap45 APN 10 79,862,938 (GRCm39) missense probably damaging 1.00
IGL01505:Arhgap45 APN 10 79,862,376 (GRCm39) missense probably benign 0.10
IGL02203:Arhgap45 APN 10 79,863,387 (GRCm39) nonsense probably null
IGL02557:Arhgap45 APN 10 79,857,472 (GRCm39) missense probably damaging 1.00
IGL02858:Arhgap45 APN 10 79,853,768 (GRCm39) missense probably benign 0.20
IGL03292:Arhgap45 APN 10 79,856,803 (GRCm39) missense probably benign 0.04
IGL03352:Arhgap45 APN 10 79,866,585 (GRCm39) missense probably damaging 0.96
Celt UTSW 10 79,856,652 (GRCm39) missense probably damaging 1.00
celtic UTSW 10 79,863,423 (GRCm39) nonsense probably null
druid UTSW 10 79,862,181 (GRCm39) critical splice donor site probably null
Mistletoe UTSW 10 79,862,936 (GRCm39) nonsense probably null
Roman UTSW 10 79,863,431 (GRCm39) missense probably damaging 1.00
stonehenge UTSW 10 79,861,316 (GRCm39) missense possibly damaging 0.81
IGL03048:Arhgap45 UTSW 10 79,852,851 (GRCm39) missense probably damaging 0.99
PIT4677001:Arhgap45 UTSW 10 79,856,583 (GRCm39) missense probably benign
R0532:Arhgap45 UTSW 10 79,857,917 (GRCm39) missense possibly damaging 0.92
R1233:Arhgap45 UTSW 10 79,863,416 (GRCm39) missense probably damaging 1.00
R1579:Arhgap45 UTSW 10 79,864,811 (GRCm39) missense probably damaging 1.00
R1666:Arhgap45 UTSW 10 79,864,584 (GRCm39) missense possibly damaging 0.82
R1668:Arhgap45 UTSW 10 79,864,584 (GRCm39) missense possibly damaging 0.82
R1688:Arhgap45 UTSW 10 79,864,929 (GRCm39) missense probably damaging 1.00
R1710:Arhgap45 UTSW 10 79,853,932 (GRCm39) nonsense probably null
R1902:Arhgap45 UTSW 10 79,861,300 (GRCm39) missense probably damaging 0.99
R1912:Arhgap45 UTSW 10 79,856,524 (GRCm39) missense probably benign 0.08
R1935:Arhgap45 UTSW 10 79,866,788 (GRCm39) missense probably damaging 1.00
R1936:Arhgap45 UTSW 10 79,866,788 (GRCm39) missense probably damaging 1.00
R1955:Arhgap45 UTSW 10 79,862,326 (GRCm39) missense probably benign 0.15
R1968:Arhgap45 UTSW 10 79,863,536 (GRCm39) missense probably damaging 1.00
R1977:Arhgap45 UTSW 10 79,856,652 (GRCm39) missense probably damaging 1.00
R1986:Arhgap45 UTSW 10 79,856,530 (GRCm39) missense probably damaging 1.00
R2081:Arhgap45 UTSW 10 79,863,508 (GRCm39) missense probably damaging 1.00
R2162:Arhgap45 UTSW 10 79,852,813 (GRCm39) start codon destroyed probably null 0.02
R2937:Arhgap45 UTSW 10 79,864,836 (GRCm39) missense probably damaging 1.00
R2938:Arhgap45 UTSW 10 79,864,836 (GRCm39) missense probably damaging 1.00
R3081:Arhgap45 UTSW 10 79,862,281 (GRCm39) missense probably damaging 1.00
R4695:Arhgap45 UTSW 10 79,861,364 (GRCm39) missense probably damaging 1.00
R4736:Arhgap45 UTSW 10 79,862,006 (GRCm39) missense probably damaging 1.00
R4758:Arhgap45 UTSW 10 79,866,127 (GRCm39) missense probably benign 0.00
R4860:Arhgap45 UTSW 10 79,862,900 (GRCm39) missense probably damaging 1.00
R4860:Arhgap45 UTSW 10 79,862,900 (GRCm39) missense probably damaging 1.00
R4934:Arhgap45 UTSW 10 79,856,791 (GRCm39) missense probably damaging 1.00
R4943:Arhgap45 UTSW 10 79,862,337 (GRCm39) missense probably benign 0.00
R5102:Arhgap45 UTSW 10 79,857,262 (GRCm39) missense probably benign 0.01
R5128:Arhgap45 UTSW 10 79,866,793 (GRCm39) missense probably benign 0.16
R5667:Arhgap45 UTSW 10 79,861,310 (GRCm39) missense probably damaging 1.00
R5671:Arhgap45 UTSW 10 79,861,310 (GRCm39) missense probably damaging 1.00
R5920:Arhgap45 UTSW 10 79,864,965 (GRCm39) missense possibly damaging 0.87
R5998:Arhgap45 UTSW 10 79,866,784 (GRCm39) missense probably damaging 0.99
R6276:Arhgap45 UTSW 10 79,862,068 (GRCm39) missense probably benign 0.25
R6675:Arhgap45 UTSW 10 79,853,938 (GRCm39) missense probably null 0.98
R6738:Arhgap45 UTSW 10 79,863,431 (GRCm39) missense probably damaging 1.00
R6783:Arhgap45 UTSW 10 79,853,698 (GRCm39) missense possibly damaging 0.92
R6863:Arhgap45 UTSW 10 79,853,616 (GRCm39) missense probably benign 0.03
R6978:Arhgap45 UTSW 10 79,857,682 (GRCm39) missense probably benign 0.00
R7089:Arhgap45 UTSW 10 79,862,181 (GRCm39) critical splice donor site probably null
R7215:Arhgap45 UTSW 10 79,861,316 (GRCm39) missense possibly damaging 0.81
R7307:Arhgap45 UTSW 10 79,865,016 (GRCm39) missense probably benign 0.14
R7308:Arhgap45 UTSW 10 79,862,392 (GRCm39) critical splice donor site probably null
R7480:Arhgap45 UTSW 10 79,862,936 (GRCm39) nonsense probably null
R7481:Arhgap45 UTSW 10 79,858,134 (GRCm39) missense possibly damaging 0.80
R7649:Arhgap45 UTSW 10 79,866,835 (GRCm39) missense probably benign 0.00
R7652:Arhgap45 UTSW 10 79,864,672 (GRCm39) missense probably benign 0.01
R7748:Arhgap45 UTSW 10 79,852,766 (GRCm39) unclassified probably benign
R7883:Arhgap45 UTSW 10 79,863,423 (GRCm39) nonsense probably null
R8121:Arhgap45 UTSW 10 79,853,909 (GRCm39) missense probably damaging 0.99
R8169:Arhgap45 UTSW 10 79,863,706 (GRCm39) missense probably damaging 1.00
R8170:Arhgap45 UTSW 10 79,863,706 (GRCm39) missense probably damaging 1.00
R8175:Arhgap45 UTSW 10 79,863,706 (GRCm39) missense probably damaging 1.00
R8178:Arhgap45 UTSW 10 79,863,706 (GRCm39) missense probably damaging 1.00
R8186:Arhgap45 UTSW 10 79,863,706 (GRCm39) missense probably damaging 1.00
R8187:Arhgap45 UTSW 10 79,863,706 (GRCm39) missense probably damaging 1.00
R8687:Arhgap45 UTSW 10 79,852,621 (GRCm39) unclassified probably benign
R8866:Arhgap45 UTSW 10 79,853,750 (GRCm39) missense probably damaging 1.00
R8905:Arhgap45 UTSW 10 79,855,570 (GRCm39) missense probably benign 0.00
R9299:Arhgap45 UTSW 10 79,862,565 (GRCm39) missense possibly damaging 0.82
R9412:Arhgap45 UTSW 10 79,855,564 (GRCm39) start codon destroyed probably null 0.66
R9579:Arhgap45 UTSW 10 79,853,843 (GRCm39) missense probably benign
R9629:Arhgap45 UTSW 10 79,863,694 (GRCm39) missense probably damaging 1.00
R9710:Arhgap45 UTSW 10 79,857,635 (GRCm39) missense probably damaging 0.99
X0023:Arhgap45 UTSW 10 79,866,634 (GRCm39) missense probably damaging 0.98
X0063:Arhgap45 UTSW 10 79,866,190 (GRCm39) missense possibly damaging 0.51
Z1176:Arhgap45 UTSW 10 79,864,886 (GRCm39) missense probably damaging 0.99
Z1176:Arhgap45 UTSW 10 79,861,370 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACACTGGCTTTCCAACCTG -3'
(R):5'- GCCTTTCACGGGCTATTTTG -3'

Sequencing Primer
(F):5'- TGTCTGCAGCTGACCTCAATGG -3'
(R):5'- ACAGGGTGTCATGTAGCCCAG -3'
Posted On 2014-09-17