Incidental Mutation 'R1968:Arhgap45'
ID 219253
Institutional Source Beutler Lab
Gene Symbol Arhgap45
Ensembl Gene ENSMUSG00000035697
Gene Name Rho GTPase activating protein 45
Synonyms 6330406L22Rik, Hmha1
MMRRC Submission 039981-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1968 (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 79863536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 793 (I793T)
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: I666T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
AA Change: I666T

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: I782T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697
AA Change: I782T

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: I793T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697
AA Change: I793T

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: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A G 4: 144,397,193 (GRCm39) Y180H possibly damaging Het
Abcc10 A T 17: 46,633,125 (GRCm39) L528Q probably damaging Het
Adam18 T A 8: 25,136,463 (GRCm39) T353S probably benign Het
Aldh1a3 A G 7: 66,061,248 (GRCm39) probably null Het
Aldh3b2 T A 19: 4,030,705 (GRCm39) M390K probably benign Het
Arsb A G 13: 93,944,067 (GRCm39) M253V probably benign Het
Atcay T C 10: 81,048,312 (GRCm39) D258G possibly damaging Het
Atf1 G T 15: 100,152,395 (GRCm39) probably null Het
Atp1a4 C T 1: 172,067,731 (GRCm39) E511K probably benign Het
Atp8a1 A G 5: 67,825,000 (GRCm39) V777A probably benign Het
Baz1a T C 12: 54,947,122 (GRCm39) T1173A possibly damaging Het
Bdh2 A T 3: 134,991,370 (GRCm39) D15V probably benign Het
Cacna1e T C 1: 154,576,240 (GRCm39) Y69C probably damaging Het
Caskin2 A G 11: 115,694,440 (GRCm39) L387P probably benign Het
Cat T C 2: 103,315,334 (GRCm39) E17G probably benign Het
Ccdc15 T C 9: 37,259,091 (GRCm39) I54M probably benign Het
Ccn1 T C 3: 145,353,965 (GRCm39) Y275C probably damaging Het
Cdhr1 T G 14: 36,801,682 (GRCm39) I754L probably benign Het
Cep120 G A 18: 53,856,313 (GRCm39) T368I probably benign Het
Cep126 C A 9: 8,100,909 (GRCm39) D542Y probably damaging Het
Cep135 T C 5: 76,772,594 (GRCm39) S660P possibly damaging Het
Cfap70 A T 14: 20,470,879 (GRCm39) S455R possibly damaging Het
Chd8 A G 14: 52,458,450 (GRCm39) M886T probably damaging Het
Ckap5 T C 2: 91,416,688 (GRCm39) S1098P probably benign Het
Clec4e A T 6: 123,260,533 (GRCm39) I204N probably damaging Het
Cntnap5c G A 17: 58,666,291 (GRCm39) R1107H probably damaging Het
Cramp1 T C 17: 25,183,913 (GRCm39) D1234G probably damaging Het
Csf1r A T 18: 61,245,867 (GRCm39) I275L probably benign Het
Cyp27a1 A G 1: 74,776,435 (GRCm39) E457G probably benign Het
Cyp2d11 T C 15: 82,273,749 (GRCm39) T410A probably benign Het
Cyp2d22 G C 15: 82,257,373 (GRCm39) T264S probably benign Het
Daam2 G A 17: 49,790,088 (GRCm39) R390W probably damaging Het
Decr2 T C 17: 26,302,053 (GRCm39) S226G probably benign Het
Dennd6b T C 15: 89,074,544 (GRCm39) D91G possibly damaging Het
Dglucy T C 12: 100,825,903 (GRCm39) V515A possibly damaging Het
Dlg5 A T 14: 24,214,187 (GRCm39) L734* probably null Het
Dop1b A G 16: 93,579,307 (GRCm39) N1690D probably damaging Het
Exoc5 A G 14: 49,272,347 (GRCm39) Y356H probably benign Het
Fut7 T A 2: 25,315,738 (GRCm39) V332D probably benign Het
Gnas T C 2: 174,140,526 (GRCm39) S232P probably damaging Het
Gramd4 A G 15: 86,017,106 (GRCm39) E522G probably damaging Het
Gys1 A G 7: 45,092,970 (GRCm39) T297A probably damaging Het
Herc4 T C 10: 63,109,304 (GRCm39) S180P probably benign Het
Hivep3 C T 4: 119,953,435 (GRCm39) P584S possibly damaging Het
Irag2 T A 6: 145,115,499 (GRCm39) S310T probably damaging Het
Itpk1 G T 12: 102,641,729 (GRCm39) probably null Het
Jmjd1c A T 10: 67,061,219 (GRCm39) S1191C probably damaging Het
Lima1 T C 15: 99,717,565 (GRCm39) N147S probably benign Het
Map4k5 G A 12: 69,865,266 (GRCm39) T506I probably damaging Het
Mat1a A T 14: 40,832,991 (GRCm39) E58V probably damaging Het
Mfsd13a T C 19: 46,360,492 (GRCm39) L348P probably damaging Het
Mon2 A G 10: 122,845,470 (GRCm39) Y1413H probably damaging Het
Mpp3 C A 11: 101,909,378 (GRCm39) probably benign Het
Mpp4 T A 1: 59,183,961 (GRCm39) I260F probably damaging Het
Myocd C A 11: 65,091,733 (GRCm39) G70C probably damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nckap5 T A 1: 125,942,367 (GRCm39) D209V probably damaging Het
Nlrp9a A G 7: 26,264,366 (GRCm39) K707R probably benign Het
Npr3 A G 15: 11,905,055 (GRCm39) L224S probably benign Het
Or5m9b T A 2: 85,905,549 (GRCm39) L155Q probably damaging Het
Or5w20 T A 2: 87,727,383 (GRCm39) V280E probably damaging Het
Or6c74 A G 10: 129,869,602 (GRCm39) S36G probably damaging Het
Otof C T 5: 30,545,998 (GRCm39) D467N probably damaging Het
Paxx T C 2: 25,350,640 (GRCm39) probably benign Het
Pcmt1 G A 10: 7,516,474 (GRCm39) R179* probably null Het
Phkb T A 8: 86,697,580 (GRCm39) V463D probably benign Het
Prkcq T C 2: 11,250,208 (GRCm39) V175A probably damaging Het
Rasl11b T G 5: 74,356,797 (GRCm39) I58S probably damaging Het
Rb1cc1 A T 1: 6,318,419 (GRCm39) probably null Het
Reck T A 4: 43,913,771 (GRCm39) probably null Het
Riox1 G T 12: 83,998,156 (GRCm39) D231Y probably damaging Het
Rlf T A 4: 121,005,617 (GRCm39) N1231I probably damaging Het
Rpn1 A G 6: 88,072,530 (GRCm39) D291G possibly damaging Het
Samsn1 C T 16: 75,742,461 (GRCm39) noncoding transcript Het
Scara5 T C 14: 65,927,249 (GRCm39) C49R possibly damaging Het
Serpini1 A G 3: 75,521,785 (GRCm39) D92G probably benign Het
Setdb2 A T 14: 59,656,858 (GRCm39) L153Q probably damaging Het
Sh3rf3 C T 10: 58,649,809 (GRCm39) T138M probably benign Het
Shkbp1 C T 7: 27,054,825 (GRCm39) probably null Het
Slc22a29 G A 19: 8,195,707 (GRCm39) P111S probably benign Het
Smarca1 A G X: 46,941,564 (GRCm39) V618A probably damaging Het
Spef2 T A 15: 9,609,602 (GRCm39) M1308L probably damaging Het
Spink5 A G 18: 44,123,775 (GRCm39) N354S probably benign Het
Srrm2 T C 17: 24,040,465 (GRCm39) S2370P probably damaging Het
Ssxb3 A T X: 8,454,905 (GRCm39) I28N probably damaging Het
Sucla2 A G 14: 73,831,119 (GRCm39) T411A probably damaging Het
Tex38 A C 4: 115,637,537 (GRCm39) S89A probably benign Het
Tjp2 A T 19: 24,088,437 (GRCm39) D723E probably damaging Het
Tln2 A T 9: 67,163,183 (GRCm39) N1121K probably damaging Het
Tti1 T C 2: 157,850,966 (GRCm39) E91G possibly damaging Het
Wbp2 A T 11: 115,973,191 (GRCm39) M72K possibly damaging Het
Wdfy4 C A 14: 32,828,001 (GRCm39) C1062F possibly damaging Het
Wiz A G 17: 32,578,346 (GRCm39) Y389H probably damaging Het
Zcchc3 T C 2: 152,256,012 (GRCm39) K229R probably damaging Het
Zmat3 C A 3: 32,415,131 (GRCm39) D60Y probably 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
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
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'- GGGCCCAGCATTTACAGTAGATG -3'
(R):5'- CATTCTCAAAAGCCTGGCAC -3'

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