Incidental Mutation 'R1688:Arhgap45'
ID 189505
Institutional Source Beutler Lab
Gene Symbol Arhgap45
Ensembl Gene ENSMUSG00000035697
Gene Name Rho GTPase activating protein 45
Synonyms 6330406L22Rik, Hmha1
MMRRC Submission 039721-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1688 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 79852505-79867305 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79864929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 964 (Y964C)
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: Y837C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
AA Change: Y837C

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: Y953C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697
AA Change: Y953C

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: Y964C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697
AA Change: Y964C

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 0.7999 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 61,002,695 (GRCm39) T20A probably benign Het
Acaca T G 11: 84,129,722 (GRCm39) V359G probably damaging Het
Adgb G A 10: 10,226,061 (GRCm39) R1359* probably null Het
Aggf1 T C 13: 95,501,275 (GRCm39) E369G probably damaging Het
Alkbh8 T A 9: 3,382,765 (GRCm39) D418E probably damaging Het
Alox8 T C 11: 69,080,732 (GRCm39) D203G probably benign Het
Ank A G 15: 27,557,320 (GRCm39) D168G probably damaging Het
Ap5m1 A G 14: 49,318,291 (GRCm39) probably null Het
Arhgef2 A G 3: 88,547,607 (GRCm39) D571G probably benign Het
Bdh2 A T 3: 135,007,399 (GRCm39) Y223F possibly damaging Het
Bin1 T C 18: 32,552,988 (GRCm39) probably benign Het
Bin1 G A 18: 32,558,025 (GRCm39) probably benign Het
Cacna1g T A 11: 94,316,779 (GRCm39) M1514L possibly damaging Het
Cd109 T A 9: 78,612,373 (GRCm39) F1253L probably benign Het
Cfap57 T A 4: 118,426,843 (GRCm39) E1065V probably null Het
Chmp2b T C 16: 65,347,922 (GRCm39) N14S probably benign Het
Cplane1 T C 15: 8,258,093 (GRCm39) V2113A probably benign Het
Crybg1 A T 10: 43,849,794 (GRCm39) F1660L probably damaging Het
Cyp2c37 T G 19: 39,982,887 (GRCm39) probably null Het
Daam1 A T 12: 71,993,820 (GRCm39) I408F unknown Het
Dsc3 T A 18: 20,099,284 (GRCm39) D744V probably damaging Het
Eprs1 T C 1: 185,117,093 (GRCm39) F379L probably damaging Het
Ewsr1 G T 11: 5,022,870 (GRCm39) D417E unknown Het
Eya4 A T 10: 22,999,759 (GRCm39) N424K probably damaging Het
Gm9312 A C 12: 24,301,920 (GRCm39) noncoding transcript Het
Havcr2 T C 11: 46,370,191 (GRCm39) I206T probably damaging Het
Igfbp2 T C 1: 72,864,125 (GRCm39) probably null Het
Ikzf2 T C 1: 69,581,439 (GRCm39) K196R possibly damaging Het
Il12rb1 G A 8: 71,272,046 (GRCm39) G587R probably damaging Het
Immt A T 6: 71,833,995 (GRCm39) H208L probably damaging Het
Kcnq2 C T 2: 180,728,826 (GRCm39) V540I probably damaging Het
Klk1b8 T A 7: 43,595,229 (GRCm39) probably benign Het
Mc2r T A 18: 68,541,090 (GRCm39) I68F possibly damaging Het
Neil3 T C 8: 54,054,069 (GRCm39) E320G probably damaging Het
Nell2 T C 15: 95,329,494 (GRCm39) T276A probably damaging Het
Nphp3 T C 9: 103,880,323 (GRCm39) L115P probably damaging Het
Nras T C 3: 102,967,689 (GRCm39) L95P probably benign Het
Ogt G A X: 100,699,296 (GRCm39) V190I probably damaging Het
Or11h6 A T 14: 50,880,705 (GRCm39) K322N probably benign Het
Or5t17 A G 2: 86,832,730 (GRCm39) Y139C probably benign Het
P2ry6 T A 7: 100,587,591 (GRCm39) H256L probably damaging Het
Pcbp4 T C 9: 106,338,533 (GRCm39) S153P probably damaging Het
Pclo T C 5: 14,838,507 (GRCm39) probably null Het
Per2 A G 1: 91,351,551 (GRCm39) L985P probably damaging Het
Pgap6 C T 17: 26,337,882 (GRCm39) A422V possibly damaging Het
Phip T C 9: 82,753,710 (GRCm39) N1678S probably benign Het
Pkd1l3 A G 8: 110,350,450 (GRCm39) S432G probably benign Het
Plin4 T A 17: 56,416,363 (GRCm39) D47V possibly damaging Het
Ppp2cb A G 8: 34,105,480 (GRCm39) I163M probably benign Het
Ptpdc1 T C 13: 48,739,700 (GRCm39) E577G probably benign Het
Ptprd G T 4: 75,900,921 (GRCm39) P1063T probably damaging Het
Ptpru T C 4: 131,514,656 (GRCm39) D866G probably benign Het
Rdx T C 9: 51,972,211 (GRCm39) probably benign Het
Rgsl1 C T 1: 153,680,422 (GRCm39) R760H probably damaging Het
Rhno1 A G 6: 128,334,897 (GRCm39) V142A probably benign Het
Sema5a C T 15: 32,669,570 (GRCm39) T698I probably benign Het
Serpina3a A T 12: 104,084,902 (GRCm39) D99V probably benign Het
Slc22a3 A T 17: 12,652,694 (GRCm39) M350K probably damaging Het
Spata31d1b T A 13: 59,863,274 (GRCm39) S141T possibly damaging Het
Tada2a T C 11: 83,975,585 (GRCm39) probably null Het
Tspan10 A G 11: 120,333,608 (GRCm39) M2V probably damaging Het
Ttll11 T C 2: 35,685,391 (GRCm39) T566A probably damaging Het
Vwa8 A G 14: 79,438,543 (GRCm39) Q1872R possibly damaging Het
Zfp605 T A 5: 110,276,907 (GRCm39) I675N possibly damaging Het
Zkscan8 A T 13: 21,704,324 (GRCm39) N538K 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
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
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'- GCCACACTCTTATACCTGCTGAAGC -3'
(R):5'- GCCCAGAATCCTGCGAGCATATTTG -3'

Sequencing Primer
(F):5'- ATACCTGCTGAAGCACTTGC -3'
(R):5'- ccTGCGAGCATATTTGTGTCAC -3'
Posted On 2014-05-14