Incidental Mutation 'R1986:Arhgap45'
ID 220681
Institutional Source Beutler Lab
Gene Symbol Arhgap45
Ensembl Gene ENSMUSG00000035697
Gene Name Rho GTPase activating protein 45
Synonyms 6330406L22Rik, Hmha1
MMRRC Submission 039998-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1986 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 79852505-79867305 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79856530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 26 (L26P)
Ref Sequence ENSEMBL: ENSMUSP00000041019 (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: L26P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
AA Change: L26P

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: L142P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697
AA Change: L142P

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: L153P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697
AA Change: L153P

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,212,977 (GRCm39) S105P probably damaging Het
9930111J21Rik2 T A 11: 48,910,119 (GRCm39) K771N possibly damaging Het
Abcc2 A G 19: 43,818,318 (GRCm39) E1268G probably damaging Het
Adamts4 T C 1: 171,084,244 (GRCm39) F574L possibly damaging Het
Adamts9 A G 6: 92,773,375 (GRCm39) V1165A probably benign Het
Agap2 A T 10: 126,918,913 (GRCm39) K430* probably null Het
Amn G T 12: 111,241,431 (GRCm39) G232V probably damaging Het
Ank3 A G 10: 69,703,258 (GRCm39) E297G probably damaging Het
Atp10b C A 11: 43,063,595 (GRCm39) Q177K probably benign Het
Bbs10 A T 10: 111,135,118 (GRCm39) D77V probably damaging Het
Bltp2 A T 11: 78,165,438 (GRCm39) H1318L probably damaging Het
Bpifa1 T A 2: 153,986,256 (GRCm39) L127Q probably damaging Het
Brinp2 T C 1: 158,074,348 (GRCm39) N591S probably damaging Het
C2cd2 A C 16: 97,671,471 (GRCm39) V476G probably damaging Het
C7 T A 15: 5,041,494 (GRCm39) T471S possibly damaging Het
Cacna1b A T 2: 24,538,998 (GRCm39) Y1488N probably damaging Het
Cadps2 A G 6: 23,323,379 (GRCm39) F1001L probably damaging Het
Ccdc188 T C 16: 18,036,707 (GRCm39) S216P probably damaging Het
Ccdc24 A G 4: 117,729,213 (GRCm39) L88P probably damaging Het
Dab1 T C 4: 104,470,412 (GRCm39) I65T probably damaging Het
Dock4 A T 12: 40,780,062 (GRCm39) D621V probably damaging Het
Drd5 A T 5: 38,477,456 (GRCm39) M150L probably damaging Het
Eef2k T A 7: 120,472,569 (GRCm39) M94K possibly damaging Het
Epg5 A G 18: 78,025,521 (GRCm39) probably null Het
Epsti1 T C 14: 78,169,673 (GRCm39) probably null Het
Ern2 T A 7: 121,770,752 (GRCm39) D754V probably benign Het
Fbxo6 A G 4: 148,230,552 (GRCm39) Y237H probably damaging Het
Fbxw24 A G 9: 109,436,124 (GRCm39) S303P probably damaging Het
Fpr-rs3 A T 17: 20,844,103 (GRCm39) probably null Het
Gab1 G T 8: 81,493,010 (GRCm39) T679K probably damaging Het
Gbp9 C A 5: 105,253,590 (GRCm39) V42F probably damaging Het
Gbp9 A T 5: 105,253,652 (GRCm39) V21E probably damaging Het
Gm20821 A G Y: 9,783,927 (GRCm39) Q183R probably benign Het
Gpatch11 A T 17: 79,151,266 (GRCm39) I226F probably benign Het
Hephl1 T G 9: 14,965,848 (GRCm39) E1035A probably damaging Het
Hspa4l T C 3: 40,714,833 (GRCm39) V156A probably damaging Het
Ifna13 A G 4: 88,562,588 (GRCm39) V12A probably benign Het
Il24 G A 1: 130,810,268 (GRCm39) T196I probably benign Het
Irgm2 A G 11: 58,110,384 (GRCm39) D37G probably benign Het
Irs1 A G 1: 82,266,486 (GRCm39) S577P probably damaging Het
Kif21b G A 1: 136,075,284 (GRCm39) D166N probably damaging Het
Krtap4-16 T C 11: 99,742,322 (GRCm39) Q26R unknown Het
Lig1 T A 7: 13,043,067 (GRCm39) Y837* probably null Het
Lrrc69 T C 4: 14,708,669 (GRCm39) E225G possibly damaging Het
Map3k20 C T 2: 72,271,638 (GRCm39) Q589* probably null Het
Masp1 T G 16: 23,302,211 (GRCm39) M347L probably benign Het
Mgat3 A T 15: 80,096,390 (GRCm39) I406F probably benign Het
Mmp1b T G 9: 7,368,577 (GRCm39) D425A probably benign Het
Mss51 T C 14: 20,533,259 (GRCm39) H404R probably benign Het
Myo15b A T 11: 115,773,701 (GRCm39) H1911L probably benign Het
Nedd4l A G 18: 65,276,874 (GRCm39) D102G probably damaging Het
Niban3 T A 8: 72,056,404 (GRCm39) I368N possibly damaging Het
Npc2 T C 12: 84,807,523 (GRCm39) K112E probably benign Het
Nuggc T A 14: 65,879,370 (GRCm39) V694E probably damaging Het
Olfm1 T G 2: 28,104,718 (GRCm39) V157G probably benign Het
Or10h28 T C 17: 33,488,489 (GRCm39) S264P probably benign Het
Or5p55 T C 7: 107,566,877 (GRCm39) V91A probably benign Het
Otogl T A 10: 107,630,051 (GRCm39) probably null Het
Ovgp1 G A 3: 105,882,251 (GRCm39) C38Y probably damaging Het
Pisd A T 5: 32,894,672 (GRCm39) S344T probably damaging Het
Psme4 T C 11: 30,780,352 (GRCm39) V840A probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rims2 T A 15: 39,208,710 (GRCm39) M171K probably damaging Het
Rin2 T A 2: 145,720,860 (GRCm39) M731K probably damaging Het
Scgb1b19 T C 7: 32,987,108 (GRCm39) probably null Het
Serpina10 A G 12: 103,594,514 (GRCm39) I235T possibly damaging Het
Setbp1 T A 18: 78,901,759 (GRCm39) E636V probably damaging Het
Sh3d21 C T 4: 126,056,290 (GRCm39) E101K probably damaging Het
Ski T G 4: 155,306,148 (GRCm39) D225A probably damaging Het
Slc28a2b A G 2: 122,357,910 (GRCm39) T655A probably benign Het
Slc29a3 T C 10: 60,559,593 (GRCm39) Y187C probably damaging Het
Sort1 T A 3: 108,253,043 (GRCm39) D494E possibly damaging Het
Sphkap A T 1: 83,255,643 (GRCm39) L702Q probably damaging Het
Srr A G 11: 74,799,545 (GRCm39) I285T probably damaging Het
Stam2 T C 2: 52,599,638 (GRCm39) T257A possibly damaging Het
Suds3 A T 5: 117,246,417 (GRCm39) N112K probably damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tesk2 T C 4: 116,608,390 (GRCm39) L104P probably damaging Het
Tie1 C T 4: 118,336,160 (GRCm39) R702H probably benign Het
Tpo G T 12: 30,169,465 (GRCm39) A90E probably damaging Het
Trim30a T C 7: 104,060,672 (GRCm39) D368G probably damaging Het
Ugt2a2 A T 5: 87,608,438 (GRCm39) M633K possibly damaging Het
Vars2 A G 17: 35,970,953 (GRCm39) W626R probably damaging Het
Vmn2r10 A T 5: 109,154,120 (GRCm39) Y61* probably null Het
Vmn2r95 T C 17: 18,671,805 (GRCm39) V514A probably benign Het
Vwa5a T G 9: 38,649,110 (GRCm39) probably benign Het
Zfp365 A T 10: 67,745,686 (GRCm39) C31S probably damaging Het
Zfp397 A T 18: 24,093,108 (GRCm39) I198F possibly damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp593 T C 4: 133,972,206 (GRCm39) E100G 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
R2074:Arhgap45 UTSW 10 79,863,014 (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'- AGTGGCTTTCCCTCACTGTG -3'
(R):5'- TGTGTTTGTCAAATGCCTATGC -3'

Sequencing Primer
(F):5'- GCACATCTGCAGGGCCAG -3'
(R):5'- TGCCTATGCACCCTTCAAAAC -3'
Posted On 2014-08-25