Incidental Mutation 'R6276:Arhgap45'
ID 507655
Institutional Source Beutler Lab
Gene Symbol Arhgap45
Ensembl Gene ENSMUSG00000035697
Gene Name Rho GTPase activating protein 45
Synonyms 6330406L22Rik, Hmha1
MMRRC Submission 044446-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6276 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 79852505-79867305 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79862068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 541 (S541C)
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 benign
Transcript: ENSMUST00000043311
AA Change: S414C

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
AA Change: S414C

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: ENSMUST00000099501
AA Change: S530C

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697
AA Change: S530C

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
AA Change: S541C

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697
AA Change: S541C

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
Meta Mutation Damage Score 0.0834 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A T 1: 125,322,874 (GRCm39) D364E probably benign Het
Adra2c C T 5: 35,437,423 (GRCm39) T65I probably damaging Het
Agap2 T A 10: 126,925,229 (GRCm39) probably null Het
Ager T C 17: 34,817,728 (GRCm39) V126A possibly damaging Het
Arhgap39 T C 15: 76,621,736 (GRCm39) I288M probably benign Het
Asb4 A G 6: 5,431,043 (GRCm39) Y426C probably damaging Het
Azi2 C T 9: 117,878,406 (GRCm39) T82I probably damaging Het
Baz2b T A 2: 59,778,567 (GRCm39) R764S probably damaging Het
Ccdc146 A C 5: 21,506,338 (GRCm39) I701S probably damaging Het
Ccnq T C 11: 78,642,056 (GRCm39) K145E probably damaging Het
Cd55b T A 1: 130,345,903 (GRCm39) I172F probably damaging Het
Cdk11b A G 4: 155,718,647 (GRCm39) E199G probably benign Het
Cntnap4 A T 8: 113,478,921 (GRCm39) T216S possibly damaging Het
D5Ertd579e A T 5: 36,761,858 (GRCm39) N1336K possibly damaging Het
Dlg5 T C 14: 24,214,636 (GRCm39) N649S probably damaging Het
Dmxl1 A G 18: 49,979,653 (GRCm39) E96G probably benign Het
Dscaml1 C T 9: 45,579,458 (GRCm39) T335I possibly damaging Het
Epb41l2 G T 10: 25,378,022 (GRCm39) G695C probably damaging Het
Erbb4 C T 1: 68,599,735 (GRCm39) R114H probably damaging Het
F2rl1 G T 13: 95,650,446 (GRCm39) Y145* probably null Het
Fsip2 A T 2: 82,810,785 (GRCm39) Y2368F possibly damaging Het
Galnt7 C T 8: 57,989,612 (GRCm39) probably null Het
Garre1 A T 7: 33,941,802 (GRCm39) Y627* probably null Het
Gm6811 T A 17: 21,314,245 (GRCm39) noncoding transcript Het
Gm6811 T G 17: 21,314,952 (GRCm39) noncoding transcript Het
H2-M1 G A 17: 36,982,602 (GRCm39) T86M possibly damaging Het
Hk2 T C 6: 82,720,347 (GRCm39) D170G probably benign Het
Hmcn1 C T 1: 150,614,432 (GRCm39) A1325T possibly damaging Het
Insrr T A 3: 87,707,826 (GRCm39) Y89* probably null Het
Itga1 T C 13: 115,117,388 (GRCm39) E871G probably benign Het
Kat6a T C 8: 23,429,421 (GRCm39) L1592P possibly damaging Het
Kndc1 C A 7: 139,500,979 (GRCm39) A756E probably benign Het
Krt12 A T 11: 99,312,728 (GRCm39) C105* probably null Het
Lama1 G A 17: 68,091,083 (GRCm39) probably null Het
Lama3 A G 18: 12,640,006 (GRCm39) N67S probably benign Het
Lrrk1 A G 7: 65,956,587 (GRCm39) probably null Het
Lypd9 T A 11: 58,337,192 (GRCm39) I94L possibly damaging Het
Map2 T C 1: 66,438,578 (GRCm39) V34A probably damaging Het
Mroh6 A G 15: 75,757,549 (GRCm39) L487P probably damaging Het
Myo18b A T 5: 112,959,508 (GRCm39) S1430T probably benign Het
Notch3 G A 17: 32,373,723 (GRCm39) T495I probably benign Het
Or1e31 A T 11: 73,690,229 (GRCm39) M118K probably damaging Het
Palld C T 8: 61,966,457 (GRCm39) A980T probably damaging Het
Paxip1 A T 5: 27,966,666 (GRCm39) I620N probably damaging Het
Pcdha6 A G 18: 37,102,820 (GRCm39) probably null Het
Pcdhb11 G A 18: 37,554,813 (GRCm39) V48M probably benign Het
Pcdhga6 A G 18: 37,840,697 (GRCm39) E139G probably benign Het
Pck1 T C 2: 172,999,112 (GRCm39) V426A probably damaging Het
Pck2 T A 14: 55,780,081 (GRCm39) I110N probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Phactr3 G A 2: 177,920,812 (GRCm39) E222K probably damaging Het
Ppip5k1 A T 2: 121,153,684 (GRCm39) probably benign Het
Prodh2 A G 7: 30,206,076 (GRCm39) H278R probably benign Het
Rspry1 T A 8: 95,349,886 (GRCm39) H91Q probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Smn1 A G 13: 100,264,503 (GRCm39) N78S possibly damaging Het
Spta1 T A 1: 174,046,078 (GRCm39) I1614N probably damaging Het
Syt17 T C 7: 118,033,513 (GRCm39) D165G probably damaging Het
Tbck A G 3: 132,448,766 (GRCm39) Y593C probably damaging Het
Tcaf2 G C 6: 42,606,687 (GRCm39) F422L probably benign Het
Tex15 T A 8: 34,067,217 (GRCm39) F2216I possibly damaging Het
Trpc4 A G 3: 54,225,441 (GRCm39) E846G probably benign Het
Ttc41 T C 10: 86,580,313 (GRCm39) I753T probably benign Het
Vdac1 C T 11: 52,267,309 (GRCm39) T70M possibly damaging Het
Vmn1r124 A C 7: 20,994,104 (GRCm39) F147V probably benign Het
Vmn1r220 T C 13: 23,368,465 (GRCm39) D77G probably damaging Het
Vmn2r28 T C 7: 5,493,730 (GRCm39) H72R probably benign Het
Vmn2r78 A T 7: 86,570,318 (GRCm39) I279L probably benign Het
Vmn2r95 G T 17: 18,671,732 (GRCm39) A490S possibly damaging Het
Wdfy4 C T 14: 32,831,482 (GRCm39) A915T possibly damaging Het
Zmiz2 G T 11: 6,345,604 (GRCm39) probably null Het
Zscan2 A G 7: 80,525,557 (GRCm39) N426S probably benign 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
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'- CGGTCCTTGTCTAGTGTGAAC -3'
(R):5'- TCCGTGTACGCATGATTGGG -3'

Sequencing Primer
(F):5'- CCTTGTCTAGTGTGAACTCTATGG -3'
(R):5'- TCAGTAAGAGGCCTCCCCAG -3'
Posted On 2018-03-15