Incidental Mutation 'R8905:Arhgap45'
ID 680041
Institutional Source Beutler Lab
Gene Symbol Arhgap45
Ensembl Gene ENSMUSG00000035697
Gene Name Rho GTPase activating protein 45
Synonyms 6330406L22Rik, Hmha1
MMRRC Submission 068762-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8905 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 79852505-79867305 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79855570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 3 (V3A)
Ref Sequence ENSEMBL: ENSMUSP00000041019 (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
AA Change: V3A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
AA Change: V3A

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: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (77/77)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T C 4: 137,182,553 (GRCm39) V236A probably benign Het
Abca15 A T 7: 119,960,771 (GRCm39) R744S probably benign Het
Adgra1 T C 7: 139,455,763 (GRCm39) S464P probably damaging Het
AW554918 T A 18: 25,473,206 (GRCm39) S134T probably damaging Het
Bmper A G 9: 23,318,082 (GRCm39) E567G probably benign Het
C2cd3 T C 7: 100,074,132 (GRCm39) probably null Het
Cars1 A G 7: 143,140,196 (GRCm39) Y170H probably damaging Het
Celsr1 A T 15: 85,788,269 (GRCm39) probably benign Het
Celsr3 C T 9: 108,718,501 (GRCm39) H2351Y probably damaging Het
Cfap210 A G 2: 69,612,104 (GRCm39) S175P probably benign Het
Clxn A G 16: 14,738,275 (GRCm39) I147V possibly damaging Het
Cyp2d11 T C 15: 82,275,102 (GRCm39) I282V probably benign Het
Dhfr A G 13: 92,494,467 (GRCm39) T57A probably damaging Het
Dhrs7l T A 12: 72,666,431 (GRCm39) D80V probably damaging Het
Dnah7b A C 1: 46,292,534 (GRCm39) Q2973P probably damaging Het
Dnajc5b T C 3: 19,633,184 (GRCm39) C136R probably benign Het
Ercc3 T G 18: 32,398,771 (GRCm39) D683E possibly damaging Het
Faxc A G 4: 21,982,398 (GRCm39) Y279C probably damaging Het
Fbxw7 T C 3: 84,872,634 (GRCm39) M191T possibly damaging Het
Fcgbp T A 7: 27,785,934 (GRCm39) V457E probably damaging Het
Fip1l1 A T 5: 74,756,624 (GRCm39) T539S probably damaging Het
Gabra1 T C 11: 42,038,052 (GRCm39) T189A possibly damaging Het
Glg1 T C 8: 111,884,668 (GRCm39) D1118G probably damaging Het
Gli3 A G 13: 15,901,116 (GRCm39) D1501G probably benign Het
Hacd1 A G 2: 14,049,761 (GRCm39) I91T possibly damaging Het
Ift22 T C 5: 136,941,745 (GRCm39) V159A probably benign Het
Igkv1-110 T A 6: 68,248,070 (GRCm39) Y60N probably damaging Het
Inpp5d A G 1: 87,637,348 (GRCm39) K502E probably damaging Het
Kcnt2 A T 1: 140,435,467 (GRCm39) Q478L possibly damaging Het
Mettl13 A G 1: 162,364,847 (GRCm39) F511L probably damaging Het
Mis18bp1 T C 12: 65,180,401 (GRCm39) probably null Het
Mrps30 A T 13: 118,523,479 (GRCm39) S98T probably benign Het
Muc2 C T 7: 141,279,643 (GRCm39) A209V probably benign Het
Nfs1 A T 2: 155,970,503 (GRCm39) I270N probably damaging Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Nsmaf A G 4: 6,424,951 (GRCm39) S266P probably benign Het
Obscn A G 11: 58,960,784 (GRCm39) S3176P probably damaging Het
Or4c123 A T 2: 89,126,801 (GRCm39) L271Q possibly damaging Het
Or7g12 A G 9: 18,899,494 (GRCm39) D70G possibly damaging Het
P2ry12 T A 3: 59,124,997 (GRCm39) Y226F probably damaging Het
Pabpc2 C A 18: 39,907,704 (GRCm39) T323K probably benign Het
Pank2 A G 2: 131,124,646 (GRCm39) D71G possibly damaging Het
Patj A T 4: 98,385,412 (GRCm39) H393L probably damaging Het
Pde8b A G 13: 95,182,993 (GRCm39) V255A probably damaging Het
Plekhs1 T C 19: 56,471,028 (GRCm39) W374R probably damaging Het
Ppm1g T C 5: 31,361,437 (GRCm39) D313G probably damaging Het
Rnf114 A G 2: 167,353,134 (GRCm39) N135S probably benign Het
Rnf43 T G 11: 87,621,951 (GRCm39) Y351D probably damaging Het
Robo1 A T 16: 72,539,173 (GRCm39) D90V probably damaging Het
Sbds A G 5: 130,277,125 (GRCm39) V172A possibly damaging Het
Scamp5 T A 9: 57,352,669 (GRCm39) I167F probably benign Het
Sec14l5 A G 16: 4,994,364 (GRCm39) E386G probably damaging Het
Sfxn1 T A 13: 54,246,433 (GRCm39) V159E probably damaging Het
Sgsm1 C T 5: 113,421,495 (GRCm39) G531R probably benign Het
Slc22a26 T A 19: 7,760,331 (GRCm39) I471F probably damaging Het
Slc41a3 T A 6: 90,589,123 (GRCm39) M78K probably benign Het
Slc8a1 A T 17: 81,749,084 (GRCm39) Y653N probably benign Het
Slco6c1 A T 1: 97,053,391 (GRCm39) M170K possibly damaging Het
Smarca5 A T 8: 81,440,577 (GRCm39) I629K probably benign Het
Smg7 T A 1: 152,715,817 (GRCm39) D1099V probably damaging Het
Spata31e2 A G 1: 26,721,895 (GRCm39) V1095A probably damaging Het
Srbd1 T C 17: 86,308,890 (GRCm39) I763V probably benign Het
Stk25 A G 1: 93,556,929 (GRCm39) S30P probably damaging Het
Sv2b C T 7: 74,767,459 (GRCm39) A646T probably benign Het
Tardbp T C 4: 148,705,093 (GRCm39) M167V probably benign Het
Tmem132a T C 19: 10,842,647 (GRCm39) N276S probably damaging Het
Ttpa T A 4: 20,028,435 (GRCm39) S162T probably benign Het
Usp13 T C 3: 32,935,572 (GRCm39) Y333H probably damaging Het
Vmn2r3 T A 3: 64,166,695 (GRCm39) Y812F probably damaging Het
Yeats2 A G 16: 20,009,144 (GRCm39) T463A probably benign Het
Zbtb26 T A 2: 37,326,927 (GRCm39) K36N probably benign Het
Zfc3h1 A T 10: 115,259,383 (GRCm39) T1652S probably benign Het
Zfp472 G A 17: 33,197,455 (GRCm39) C510Y possibly damaging Het
Zfp518a C A 19: 40,902,780 (GRCm39) T903K probably damaging Het
Zfp668 T C 7: 127,465,598 (GRCm39) T529A probably benign Het
Zfp930 A G 8: 69,681,351 (GRCm39) T349A possibly damaging Het
Zmiz2 T G 11: 6,346,840 (GRCm39) Y182D 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
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
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
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'- CTCTGTGGTTAGGGAACAGC -3'
(R):5'- AACCTGAGATGCAGCCAAG -3'

Sequencing Primer
(F):5'- CCCTTGAGCTAGCCTATGGAGATATG -3'
(R):5'- CCAAGAGGGGTGAAGAGCTCC -3'
Posted On 2021-08-31