Incidental Mutation 'R7748:Arhgap45'
ID 597020
Institutional Source Beutler Lab
Gene Symbol Arhgap45
Ensembl Gene ENSMUSG00000035697
Gene Name Rho GTPase activating protein 45
Synonyms 6330406L22Rik, Hmha1
MMRRC Submission 045804-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7748 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 80016653-80031472 bp(+) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 80016932 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043311] [ENSMUST00000043866] [ENSMUST00000099501] [ENSMUST00000105373] [ENSMUST00000132517] [ENSMUST00000171637]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043311
SMART Domains Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697

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 benign
Transcript: ENSMUST00000043866
SMART Domains Protein: ENSMUSP00000043090
Gene: ENSMUSG00000035722

DomainStartEndE-ValueType
transmembrane domain 23 42 N/A INTRINSIC
Pfam:ABC2_membrane_3 515 747 1.1e-17 PFAM
AAA 830 1011 4.97e-12 SMART
low complexity region 1136 1147 N/A INTRINSIC
transmembrane domain 1241 1263 N/A INTRINSIC
low complexity region 1299 1309 N/A INTRINSIC
low complexity region 1374 1390 N/A INTRINSIC
Pfam:ABC2_membrane_3 1427 1764 9e-43 PFAM
AAA 1833 2018 7.2e-9 SMART
low complexity region 2120 2135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099501
SMART Domains Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697

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 benign
Transcript: ENSMUST00000105373
SMART Domains Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697

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 probably benign
Transcript: ENSMUST00000132517
SMART Domains Protein: ENSMUSP00000115111
Gene: ENSMUSG00000035722

DomainStartEndE-ValueType
transmembrane domain 23 42 N/A INTRINSIC
Pfam:ABC2_membrane_3 515 747 1.1e-17 PFAM
AAA 830 1011 4.97e-12 SMART
low complexity region 1136 1147 N/A INTRINSIC
transmembrane domain 1241 1263 N/A INTRINSIC
low complexity region 1299 1309 N/A INTRINSIC
low complexity region 1374 1390 N/A INTRINSIC
Pfam:ABC2_membrane_3 1427 1764 9e-43 PFAM
AAA 1833 2018 7.2e-9 SMART
low complexity region 2120 2135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171637
SMART Domains Protein: ENSMUSP00000128121
Gene: ENSMUSG00000035722

DomainStartEndE-ValueType
transmembrane domain 23 42 N/A INTRINSIC
Pfam:ABC2_membrane_3 517 747 2.8e-19 PFAM
AAA 830 1011 4.97e-12 SMART
low complexity region 1136 1147 N/A INTRINSIC
transmembrane domain 1249 1271 N/A INTRINSIC
low complexity region 1307 1317 N/A INTRINSIC
low complexity region 1382 1398 N/A INTRINSIC
Pfam:ABC2_membrane_3 1426 1772 3.9e-47 PFAM
AAA 1841 2026 7.2e-9 SMART
low complexity region 2128 2143 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 111 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T A 7: 131,361,792 (GRCm38) L103F probably benign Het
4932438A13Rik A G 3: 36,959,335 (GRCm38) probably null Het
5330417H12Rik A G 7: 107,624,558 (GRCm38) L103P unknown Het
Actb T C 5: 142,904,695 (GRCm38) I151V probably benign Het
Adcy6 T A 15: 98,604,556 (GRCm38) H59L probably benign Het
Adss G C 1: 177,772,202 (GRCm38) S272* probably null Het
Aga A T 8: 53,511,805 (GRCm38) M1L possibly damaging Het
Anxa5 G A 3: 36,465,331 (GRCm38) T3M probably damaging Het
Atp6v0a2 A T 5: 124,716,496 (GRCm38) H639L probably benign Het
BC005537 C T 13: 24,803,399 (GRCm38) R7W possibly damaging Het
Bcl2l2 C T 14: 54,884,379 (GRCm38) probably benign Het
Bod1l A C 5: 41,832,340 (GRCm38) S347A probably damaging Het
Calcoco1 T C 15: 102,719,561 (GRCm38) D46G probably damaging Het
Camk1 T C 6: 113,340,328 (GRCm38) E60G probably damaging Het
Capza1 A T 3: 104,825,405 (GRCm38) probably null Het
Ccdc18 T A 5: 108,149,041 (GRCm38) probably null Het
Cdh20 G A 1: 104,941,299 (GRCm38) A172T probably damaging Het
Cdk4 C T 10: 127,064,429 (GRCm38) A65V possibly damaging Het
Cftr T C 6: 18,277,889 (GRCm38) probably null Het
Chd3 T C 11: 69,355,633 (GRCm38) M1092V probably benign Het
Chd6 A T 2: 160,966,619 (GRCm38) H1558Q probably benign Het
Chil1 A G 1: 134,189,228 (GRCm38) H318R probably benign Het
Cps1 A G 1: 67,139,806 (GRCm38) Y59C probably damaging Het
Cyb5r4 T C 9: 87,032,381 (GRCm38) V111A probably damaging Het
D430042O09Rik A T 7: 125,829,801 (GRCm38) M558L probably benign Het
Ddx39b G A 17: 35,252,750 (GRCm38) V291M probably damaging Het
Dhx57 A G 17: 80,265,117 (GRCm38) F709S probably damaging Het
Eef1b2 A T 1: 63,177,865 (GRCm38) K64N probably damaging Het
Fam135a A G 1: 24,028,969 (GRCm38) S940P probably benign Het
Fam234b T A 6: 135,209,351 (GRCm38) V119E probably damaging Het
Fbxo46 G C 7: 19,136,533 (GRCm38) C359S probably damaging Het
Fkbp14 C A 6: 54,595,520 (GRCm38) probably benign Het
Fmn2 T A 1: 174,666,649 (GRCm38) V1243E probably damaging Het
Fsbp C A 4: 11,579,924 (GRCm38) T64K probably damaging Het
Fscb A T 12: 64,474,407 (GRCm38) M95K probably benign Het
Fyb T G 15: 6,638,826 (GRCm38) V500G probably damaging Het
G2e3 A G 12: 51,371,667 (GRCm38) N615S probably benign Het
Gart T C 16: 91,630,652 (GRCm38) D486G possibly damaging Het
Gas2l2 T A 11: 83,422,398 (GRCm38) D696V probably benign Het
Glmn C T 5: 107,562,244 (GRCm38) probably null Het
Gm47985 A T 1: 151,182,974 (GRCm38) D122V probably damaging Het
Gm49333 A T 16: 20,633,084 (GRCm38) D407V probably damaging Het
Gm7168 A G 17: 13,948,652 (GRCm38) K94E probably benign Het
Gm996 T A 2: 25,578,959 (GRCm38) E313D possibly damaging Het
Gnai2 T C 9: 107,615,735 (GRCm38) H323R Het
Helz2 C T 2: 181,234,531 (GRCm38) R1390H probably damaging Het
Igf2bp1 T C 11: 95,967,587 (GRCm38) M453V probably benign Het
Ighv3-1 C T 12: 113,964,650 (GRCm38) V30M probably damaging Het
Inpp5a A T 7: 139,574,995 (GRCm38) R343S probably damaging Het
Itga8 T A 2: 12,230,239 (GRCm38) I403F possibly damaging Het
Krt33a C T 11: 100,011,602 (GRCm38) R404H probably benign Het
Krt34 T A 11: 100,038,938 (GRCm38) E244V probably damaging Het
Krt42 T C 11: 100,266,966 (GRCm38) E224G probably damaging Het
Krtap5-2 TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA TCCACAGGAACTACA 7: 142,175,108 (GRCm38) probably benign Het
Lama1 T C 17: 67,750,590 (GRCm38) L553P Het
Lcn9 T A 2: 25,824,914 (GRCm38) *179K probably null Het
Lrrc2 T G 9: 110,980,931 (GRCm38) M345R possibly damaging Het
March11 T C 15: 26,387,830 (GRCm38) V257A probably damaging Het
Masp2 T C 4: 148,605,706 (GRCm38) I224T probably benign Het
Mpz A T 1: 171,159,940 (GRCm38) probably null Het
Mtr C T 13: 12,227,839 (GRCm38) A442T probably benign Het
Muc5b A G 7: 141,847,805 (GRCm38) K596R unknown Het
Myo15 T G 11: 60,504,901 (GRCm38) F1397C Het
Ncor2 T C 5: 125,109,967 (GRCm38) I173V unknown Het
Ngly1 T A 14: 16,290,820 (GRCm38) I434K possibly damaging Het
Notch2 A G 3: 98,138,484 (GRCm38) H1655R possibly damaging Het
Notum C T 11: 120,654,801 (GRCm38) A390T probably damaging Het
Olfr381 T G 11: 73,486,168 (GRCm38) I219L probably benign Het
Olfr519 T C 7: 108,894,078 (GRCm38) T115A probably benign Het
Pds5a T A 5: 65,619,666 (GRCm38) I51F possibly damaging Het
Pdzd2 C A 15: 12,385,786 (GRCm38) R966L possibly damaging Het
Plk3 T C 4: 117,131,728 (GRCm38) Y278C probably damaging Het
Plxna1 T A 6: 89,337,353 (GRCm38) probably null Het
Plxna1 C G 6: 89,337,352 (GRCm38) probably null Het
Ppp4r4 G A 12: 103,605,061 (GRCm38) probably null Het
Pramel6 T A 2: 87,508,699 (GRCm38) V81E probably damaging Het
Prdm2 T C 4: 143,135,889 (GRCm38) E277G possibly damaging Het
Prkg1 T A 19: 30,993,091 (GRCm38) I222F possibly damaging Het
Proser3 A T 7: 30,540,072 (GRCm38) S536T possibly damaging Het
Prrt4 C A 6: 29,177,191 (GRCm38) G193V probably damaging Het
Ptpn21 A T 12: 98,688,772 (GRCm38) H645Q probably benign Het
Ptprd T C 4: 76,099,504 (GRCm38) I744V probably null Het
Rad54l2 A G 9: 106,719,034 (GRCm38) V235A possibly damaging Het
Repin1 G T 6: 48,597,345 (GRCm38) E403* probably null Het
Rgs22 C T 15: 36,122,269 (GRCm38) probably null Het
Rtcb A T 10: 85,941,968 (GRCm38) D447E probably benign Het
Rtn1 C T 12: 72,216,926 (GRCm38) V744I possibly damaging Het
Scfd1 T G 12: 51,389,357 (GRCm38) I96M probably benign Het
Serpina3b T C 12: 104,130,463 (GRCm38) M1T probably null Het
Slc1a4 T C 11: 20,332,252 (GRCm38) Y74C probably damaging Het
Slc9b2 A T 3: 135,326,179 (GRCm38) I267F possibly damaging Het
Sorcs2 A T 5: 36,229,175 (GRCm38) M173K possibly damaging Het
Sparc T C 11: 55,398,600 (GRCm38) I226V probably benign Het
Spata22 T G 11: 73,336,254 (GRCm38) I98S probably null Het
Spef2 C T 15: 9,652,945 (GRCm38) V917M probably damaging Het
Sspo C A 6: 48,449,465 (GRCm38) C139* probably null Het
Tenm4 A G 7: 96,894,702 (GRCm38) D2012G probably damaging Het
Tgm5 G A 2: 121,052,808 (GRCm38) R351C probably damaging Het
Tmem145 G A 7: 25,307,328 (GRCm38) W82* probably null Het
Tmem159 A T 7: 120,115,479 (GRCm38) I64F possibly damaging Het
Topors T A 4: 40,262,654 (GRCm38) D210V probably damaging Het
Tssk4 A T 14: 55,651,112 (GRCm38) H146L probably damaging Het
Unc93b1 T A 19: 3,935,250 (GRCm38) D19E unknown Het
Usp17lc A G 7: 103,418,481 (GRCm38) T328A probably damaging Het
Utrn A G 10: 12,614,508 (GRCm38) Y43H probably benign Het
Vmn1r25 T A 6: 57,978,564 (GRCm38) I247F probably damaging Het
Vmn2r78 A T 7: 86,921,135 (GRCm38) Q287L probably benign Het
Vps13c T A 9: 67,963,089 (GRCm38) I3170N probably benign Het
Zfc3h1 T A 10: 115,400,815 (GRCm38) M398K probably benign Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,815,240 (GRCm38) probably benign Het
Zfp773 T C 7: 7,132,908 (GRCm38) R230G probably benign Het
Other mutations in Arhgap45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01360:Arhgap45 APN 10 80,028,648 (GRCm38) splice site probably benign
IGL01414:Arhgap45 APN 10 80,027,104 (GRCm38) missense probably damaging 1.00
IGL01505:Arhgap45 APN 10 80,026,542 (GRCm38) missense probably benign 0.10
IGL02203:Arhgap45 APN 10 80,027,553 (GRCm38) nonsense probably null
IGL02557:Arhgap45 APN 10 80,021,638 (GRCm38) missense probably damaging 1.00
IGL02858:Arhgap45 APN 10 80,017,934 (GRCm38) missense probably benign 0.20
IGL03292:Arhgap45 APN 10 80,020,969 (GRCm38) missense probably benign 0.04
IGL03352:Arhgap45 APN 10 80,030,751 (GRCm38) missense probably damaging 0.96
Celt UTSW 10 80,020,818 (GRCm38) missense probably damaging 1.00
celtic UTSW 10 80,027,589 (GRCm38) nonsense probably null
druid UTSW 10 80,026,347 (GRCm38) critical splice donor site probably null
Mistletoe UTSW 10 80,027,102 (GRCm38) nonsense probably null
Roman UTSW 10 80,027,597 (GRCm38) missense probably damaging 1.00
stonehenge UTSW 10 80,025,482 (GRCm38) missense possibly damaging 0.81
IGL03048:Arhgap45 UTSW 10 80,017,017 (GRCm38) missense probably damaging 0.99
PIT4677001:Arhgap45 UTSW 10 80,020,749 (GRCm38) missense probably benign
R0532:Arhgap45 UTSW 10 80,022,083 (GRCm38) missense possibly damaging 0.92
R1233:Arhgap45 UTSW 10 80,027,582 (GRCm38) missense probably damaging 1.00
R1579:Arhgap45 UTSW 10 80,028,977 (GRCm38) missense probably damaging 1.00
R1666:Arhgap45 UTSW 10 80,028,750 (GRCm38) missense possibly damaging 0.82
R1668:Arhgap45 UTSW 10 80,028,750 (GRCm38) missense possibly damaging 0.82
R1688:Arhgap45 UTSW 10 80,029,095 (GRCm38) missense probably damaging 1.00
R1710:Arhgap45 UTSW 10 80,018,098 (GRCm38) nonsense probably null
R1902:Arhgap45 UTSW 10 80,025,466 (GRCm38) missense probably damaging 0.99
R1912:Arhgap45 UTSW 10 80,020,690 (GRCm38) missense probably benign 0.08
R1935:Arhgap45 UTSW 10 80,030,954 (GRCm38) missense probably damaging 1.00
R1936:Arhgap45 UTSW 10 80,030,954 (GRCm38) missense probably damaging 1.00
R1955:Arhgap45 UTSW 10 80,026,492 (GRCm38) missense probably benign 0.15
R1968:Arhgap45 UTSW 10 80,027,702 (GRCm38) missense probably damaging 1.00
R1977:Arhgap45 UTSW 10 80,020,818 (GRCm38) missense probably damaging 1.00
R1986:Arhgap45 UTSW 10 80,020,696 (GRCm38) missense probably damaging 1.00
R2074:Arhgap45 UTSW 10 80,027,180 (GRCm38) missense probably damaging 1.00
R2081:Arhgap45 UTSW 10 80,027,674 (GRCm38) missense probably damaging 1.00
R2162:Arhgap45 UTSW 10 80,016,979 (GRCm38) start codon destroyed probably null 0.02
R2937:Arhgap45 UTSW 10 80,029,002 (GRCm38) missense probably damaging 1.00
R2938:Arhgap45 UTSW 10 80,029,002 (GRCm38) missense probably damaging 1.00
R3081:Arhgap45 UTSW 10 80,026,447 (GRCm38) missense probably damaging 1.00
R4695:Arhgap45 UTSW 10 80,025,530 (GRCm38) missense probably damaging 1.00
R4736:Arhgap45 UTSW 10 80,026,172 (GRCm38) missense probably damaging 1.00
R4758:Arhgap45 UTSW 10 80,030,293 (GRCm38) missense probably benign 0.00
R4860:Arhgap45 UTSW 10 80,027,066 (GRCm38) missense probably damaging 1.00
R4860:Arhgap45 UTSW 10 80,027,066 (GRCm38) missense probably damaging 1.00
R4934:Arhgap45 UTSW 10 80,020,957 (GRCm38) missense probably damaging 1.00
R4943:Arhgap45 UTSW 10 80,026,503 (GRCm38) missense probably benign 0.00
R5102:Arhgap45 UTSW 10 80,021,428 (GRCm38) missense probably benign 0.01
R5128:Arhgap45 UTSW 10 80,030,959 (GRCm38) missense probably benign 0.16
R5667:Arhgap45 UTSW 10 80,025,476 (GRCm38) missense probably damaging 1.00
R5671:Arhgap45 UTSW 10 80,025,476 (GRCm38) missense probably damaging 1.00
R5920:Arhgap45 UTSW 10 80,029,131 (GRCm38) missense possibly damaging 0.87
R5998:Arhgap45 UTSW 10 80,030,950 (GRCm38) missense probably damaging 0.99
R6276:Arhgap45 UTSW 10 80,026,234 (GRCm38) missense probably benign 0.25
R6675:Arhgap45 UTSW 10 80,018,104 (GRCm38) missense probably null 0.98
R6738:Arhgap45 UTSW 10 80,027,597 (GRCm38) missense probably damaging 1.00
R6783:Arhgap45 UTSW 10 80,017,864 (GRCm38) missense possibly damaging 0.92
R6863:Arhgap45 UTSW 10 80,017,782 (GRCm38) missense probably benign 0.03
R6978:Arhgap45 UTSW 10 80,021,848 (GRCm38) missense probably benign 0.00
R7089:Arhgap45 UTSW 10 80,026,347 (GRCm38) critical splice donor site probably null
R7215:Arhgap45 UTSW 10 80,025,482 (GRCm38) missense possibly damaging 0.81
R7307:Arhgap45 UTSW 10 80,029,182 (GRCm38) missense probably benign 0.14
R7308:Arhgap45 UTSW 10 80,026,558 (GRCm38) critical splice donor site probably null
R7480:Arhgap45 UTSW 10 80,027,102 (GRCm38) nonsense probably null
R7481:Arhgap45 UTSW 10 80,022,300 (GRCm38) missense possibly damaging 0.80
R7649:Arhgap45 UTSW 10 80,031,001 (GRCm38) missense probably benign 0.00
R7652:Arhgap45 UTSW 10 80,028,838 (GRCm38) missense probably benign 0.01
R7883:Arhgap45 UTSW 10 80,027,589 (GRCm38) nonsense probably null
R8121:Arhgap45 UTSW 10 80,018,075 (GRCm38) missense probably damaging 0.99
R8169:Arhgap45 UTSW 10 80,027,872 (GRCm38) missense probably damaging 1.00
R8170:Arhgap45 UTSW 10 80,027,872 (GRCm38) missense probably damaging 1.00
R8175:Arhgap45 UTSW 10 80,027,872 (GRCm38) missense probably damaging 1.00
R8178:Arhgap45 UTSW 10 80,027,872 (GRCm38) missense probably damaging 1.00
R8186:Arhgap45 UTSW 10 80,027,872 (GRCm38) missense probably damaging 1.00
R8187:Arhgap45 UTSW 10 80,027,872 (GRCm38) missense probably damaging 1.00
R8687:Arhgap45 UTSW 10 80,016,787 (GRCm38) unclassified probably benign
R8866:Arhgap45 UTSW 10 80,017,916 (GRCm38) missense probably damaging 1.00
R8905:Arhgap45 UTSW 10 80,019,736 (GRCm38) missense probably benign 0.00
R9299:Arhgap45 UTSW 10 80,026,731 (GRCm38) missense possibly damaging 0.82
R9412:Arhgap45 UTSW 10 80,019,730 (GRCm38) start codon destroyed probably null 0.66
R9579:Arhgap45 UTSW 10 80,018,009 (GRCm38) missense probably benign
R9629:Arhgap45 UTSW 10 80,027,860 (GRCm38) missense probably damaging 1.00
R9710:Arhgap45 UTSW 10 80,021,801 (GRCm38) missense probably damaging 0.99
X0023:Arhgap45 UTSW 10 80,030,800 (GRCm38) missense probably damaging 0.98
X0063:Arhgap45 UTSW 10 80,030,356 (GRCm38) missense possibly damaging 0.51
Z1176:Arhgap45 UTSW 10 80,029,052 (GRCm38) missense probably damaging 0.99
Z1176:Arhgap45 UTSW 10 80,025,536 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGCAATGTGGTCCAGAG -3'
(R):5'- TCCCTACCTACCGTAATGCG -3'

Sequencing Primer
(F):5'- CAATGTGGTCCAGAGACAGCC -3'
(R):5'- TAATGCGGCCTCCTAGGTTCAG -3'
Posted On 2019-11-26