Incidental Mutation 'R4758:Arhgap45'
ID 358339
Institutional Source Beutler Lab
Gene Symbol Arhgap45
Ensembl Gene ENSMUSG00000035697
Gene Name Rho GTPase activating protein 45
Synonyms 6330406L22Rik, Hmha1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4758 (G1)
Quality Score 121
Status Not validated
Chromosome 10
Chromosomal Location 79852505-79867305 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79866127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 995 (G995E)
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: G868E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
AA Change: G868E

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: G984E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697
AA Change: G984E

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: G995E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697
AA Change: G995E

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: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T A 3: 36,127,754 (GRCm39) Y119N probably damaging Het
Actn2 T A 13: 12,303,472 (GRCm39) K443* probably null Het
Adgrb2 A G 4: 129,903,143 (GRCm39) N581S probably damaging Het
Afg2a T A 3: 37,487,385 (GRCm39) S416T probably benign Het
Alb A T 5: 90,616,452 (GRCm39) H319L probably benign Het
Aox1 A G 1: 58,371,741 (GRCm39) I802V probably benign Het
Capn12 A C 7: 28,592,148 (GRCm39) T689P possibly damaging Het
Cars1 T C 7: 143,125,304 (GRCm39) S312G probably benign Het
Cast T A 13: 74,887,999 (GRCm39) D216V possibly damaging Het
Ccdc13 C T 9: 121,662,800 (GRCm39) E72K possibly damaging Het
Cd300lg G T 11: 101,944,417 (GRCm39) probably null Het
Cep41 A G 6: 30,671,368 (GRCm39) probably benign Het
Chrna3 A G 9: 54,929,560 (GRCm39) Y93H probably damaging Het
Cic A G 7: 24,991,636 (GRCm39) R1309G possibly damaging Het
Clcnkb A G 4: 141,135,160 (GRCm39) V526A probably benign Het
Clec4a1 G T 6: 122,910,825 (GRCm39) V227F probably damaging Het
Cpa5 C A 6: 30,615,159 (GRCm39) H99N possibly damaging Het
Crem C A 18: 3,327,527 (GRCm39) C4F probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Decr2 C A 17: 26,307,914 (GRCm39) E46D probably damaging Het
Dlg1 G A 16: 31,610,570 (GRCm39) V284I possibly damaging Het
Dnah3 T C 7: 119,678,629 (GRCm39) E360G probably benign Het
Dnajc1 A T 2: 18,313,757 (GRCm39) Y121* probably null Het
Dnajc13 A G 9: 104,049,773 (GRCm39) F1783L probably damaging Het
Eps8l2 T A 7: 140,940,286 (GRCm39) D505E probably damaging Het
Eral1 G A 11: 77,966,425 (GRCm39) T251I probably benign Het
Eya3 T C 4: 132,422,196 (GRCm39) probably null Het
Fam120a G A 13: 49,034,333 (GRCm39) T1093I probably benign Het
Fbn2 C T 18: 58,159,458 (GRCm39) A2424T probably benign Het
Git2 G A 5: 114,868,412 (GRCm39) T256M probably damaging Het
Gm9805 A T 17: 22,689,871 (GRCm38) Y34F probably benign Het
Itgb7 T G 15: 102,124,642 (GRCm39) T792P probably benign Het
Jakmip1 T A 5: 37,285,966 (GRCm39) I665N probably damaging Het
Kcnt2 T C 1: 140,446,635 (GRCm39) Y677H probably damaging Het
Klhdc4 G A 8: 122,524,783 (GRCm39) P382S probably benign Het
Knl1 TCC TC 2: 118,902,213 (GRCm39) probably null Het
Lamb3 T A 1: 193,022,269 (GRCm39) M1039K possibly damaging Het
Lipm A T 19: 34,078,570 (GRCm39) M1L possibly damaging Het
Lrrc37 A G 11: 103,505,290 (GRCm39) V2226A possibly damaging Het
Magi3 T A 3: 103,922,637 (GRCm39) D1360V probably benign Het
Mier2 C A 10: 79,386,182 (GRCm39) C23F probably damaging Het
Myo1h C T 5: 114,487,643 (GRCm39) R616C probably damaging Het
Nars2 A G 7: 96,622,735 (GRCm39) D187G probably damaging Het
Nbea T C 3: 55,912,824 (GRCm39) M988V probably benign Het
Nlrc5 C A 8: 95,238,956 (GRCm39) Q1465K possibly damaging Het
Nlrp4e T C 7: 23,020,043 (GRCm39) F177L probably benign Het
Oas1a A G 5: 121,045,401 (GRCm39) F47L probably damaging Het
Oas1f A G 5: 120,985,545 (GRCm39) E30G probably damaging Het
Obscn A T 11: 58,894,189 (GRCm39) M6689K unknown Het
Obscn A T 11: 59,026,743 (GRCm39) D153E probably damaging Het
Or52s6 A C 7: 103,092,076 (GRCm39) C85G probably damaging Het
Osmr A T 15: 6,882,036 (GRCm39) I36K probably benign Het
Pcf11 A T 7: 92,310,383 (GRCm39) F535Y probably damaging Het
Pde2a C T 7: 101,160,706 (GRCm39) R886C probably damaging Het
Pik3ca T A 3: 32,492,127 (GRCm39) C242S probably benign Het
Pikfyve T A 1: 65,311,674 (GRCm39) D1925E possibly damaging Het
Plekhm2 A T 4: 141,369,316 (GRCm39) Y123N possibly damaging Het
Pomt2 A T 12: 87,169,652 (GRCm39) V406D probably damaging Het
Ppfia2 G C 10: 106,597,978 (GRCm39) L180F probably damaging Het
Prdm10 A T 9: 31,273,708 (GRCm39) T985S probably benign Het
Proc T A 18: 32,256,863 (GRCm39) Y268F probably damaging Het
Prrc1 C T 18: 57,517,320 (GRCm39) T365M probably damaging Het
Rasa1 A T 13: 85,382,567 (GRCm39) D446E probably benign Het
Ribc2 T A 15: 85,025,867 (GRCm39) L281Q probably damaging Het
Runx1t1 A G 4: 13,865,907 (GRCm39) D385G probably damaging Het
Sdk2 A G 11: 113,717,880 (GRCm39) S1495P possibly damaging Het
Slc15a3 G T 19: 10,831,726 (GRCm39) probably null Het
Slc43a3 A G 2: 84,774,869 (GRCm39) N149S probably damaging Het
Specc1l A G 10: 75,082,182 (GRCm39) Q543R probably damaging Het
Spef1 T C 2: 131,014,661 (GRCm39) probably null Het
Spns1 A T 7: 125,969,966 (GRCm39) F478Y probably damaging Het
Srebf2 T C 15: 82,080,370 (GRCm39) V821A probably benign Het
Stac3 A G 10: 127,339,214 (GRCm39) M108V possibly damaging Het
Stradb A G 1: 59,027,730 (GRCm39) T87A probably benign Het
Stxbp5l A T 16: 36,954,592 (GRCm39) M906K probably benign Het
Tex14 T C 11: 87,405,311 (GRCm39) V741A probably benign Het
Thoc2l A C 5: 104,668,265 (GRCm39) E929A possibly damaging Het
Tpo C A 12: 30,125,870 (GRCm39) G830C probably damaging Het
Unc79 T A 12: 103,128,080 (GRCm39) C2308* probably null Het
Vmn1r205 T C 13: 22,777,016 (GRCm39) T29A possibly damaging Het
Vmn1r69 G A 7: 10,314,473 (GRCm39) T7I probably benign Het
Vmn2r27 T G 6: 124,208,596 (GRCm39) T50P possibly damaging Het
Wdr83 A G 8: 85,801,867 (GRCm39) Y302H probably benign Het
Xirp2 A T 2: 67,346,879 (GRCm39) E3040V probably damaging Het
Zfp629 C A 7: 127,209,758 (GRCm39) G684W 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
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'- CACGGAGAAGTTTCTGGGTG -3'
(R):5'- GGCCACTAACACAGTATGGG -3'

Sequencing Primer
(F):5'- AGGGTCAGCTCACAATTGTC -3'
(R):5'- CCACTAACACAGTATGGGAAAAGGC -3'
Posted On 2015-11-11