Incidental Mutation 'R6212:Arhgap27'
ID 503519
Institutional Source Beutler Lab
Gene Symbol Arhgap27
Ensembl Gene ENSMUSG00000034255
Gene Name Rho GTPase activating protein 27
Synonyms 5730442P18Rik, Sh3d20, 2310069I04Rik
MMRRC Submission 044345-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R6212 (G1)
Quality Score 124.008
Status Validated
Chromosome 11
Chromosomal Location 103222323-103254518 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103251698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 10 (Y10C)
Ref Sequence ENSEMBL: ENSMUSP00000102637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041272] [ENSMUST00000092557] [ENSMUST00000107023] [ENSMUST00000107024] [ENSMUST00000136491]
AlphaFold A2AB59
Predicted Effect probably benign
Transcript: ENSMUST00000041272
SMART Domains Protein: ENSMUSP00000047327
Gene: ENSMUSG00000034247

DomainStartEndE-ValueType
RUN 117 180 3.36e-20 SMART
low complexity region 246 273 N/A INTRINSIC
low complexity region 336 350 N/A INTRINSIC
low complexity region 361 373 N/A INTRINSIC
Blast:DUF4206 448 543 2e-11 BLAST
PH 552 644 2.16e-9 SMART
low complexity region 658 674 N/A INTRINSIC
PH 702 797 2.15e-4 SMART
DUF4206 864 1068 7.51e-103 SMART
C1 1005 1058 2.72e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000092557
AA Change: Y10C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102637
Gene: ENSMUSG00000034255
AA Change: Y10C

DomainStartEndE-ValueType
SH3 9 68 1.59e-1 SMART
low complexity region 73 89 N/A INTRINSIC
low complexity region 220 229 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107023
SMART Domains Protein: ENSMUSP00000102638
Gene: ENSMUSG00000034255

DomainStartEndE-ValueType
WW 62 95 3.49e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107024
AA Change: Y10C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102639
Gene: ENSMUSG00000034255
AA Change: Y10C

DomainStartEndE-ValueType
SH3 9 68 1.59e-1 SMART
low complexity region 73 89 N/A INTRINSIC
WW 247 280 3.49e-8 SMART
WW 300 333 7.44e-3 SMART
WW 415 447 2.32e-4 SMART
PH 478 595 1.08e-9 SMART
Blast:RhoGAP 651 682 1e-6 BLAST
RhoGAP 688 863 1.45e-68 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123812
Predicted Effect probably benign
Transcript: ENSMUST00000136491
SMART Domains Protein: ENSMUSP00000128051
Gene: ENSMUSG00000034255

DomainStartEndE-ValueType
Blast:WW 52 81 4e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130556
Meta Mutation Damage Score 0.2620 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.2%
Validation Efficiency 96% (52/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may pay a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T A 7: 119,172,505 (GRCm39) I116N probably damaging Het
Ap3b1 T C 13: 94,587,581 (GRCm39) S452P probably damaging Het
Ap3b1 C A 13: 94,630,207 (GRCm39) H821N unknown Het
Apex1 C T 14: 51,164,350 (GRCm39) P264S probably benign Het
Bag6 A G 17: 35,359,278 (GRCm39) T208A probably benign Het
Brd4 G T 17: 32,421,423 (GRCm39) P771Q probably damaging Het
Capn3 A G 2: 120,307,667 (GRCm39) S69G probably benign Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Celsr1 T C 15: 85,800,888 (GRCm39) H2519R probably benign Het
Chd8 T A 14: 52,439,155 (GRCm39) N48I probably damaging Het
Cmip T C 8: 118,103,895 (GRCm39) Y128H probably damaging Het
Dnhd1 C T 7: 105,353,255 (GRCm39) P2803S probably damaging Het
Dusp26 G A 8: 31,584,252 (GRCm39) D120N probably damaging Het
Epha6 T C 16: 60,245,719 (GRCm39) H160R possibly damaging Het
Erg C T 16: 95,180,022 (GRCm39) V215I probably damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Gabbr2 T C 4: 46,681,189 (GRCm39) D124G probably damaging Het
Gapdh T C 6: 125,139,661 (GRCm39) H203R probably damaging Het
Garin1b T C 6: 29,319,373 (GRCm39) L59P probably damaging Het
Ggnbp2 T C 11: 84,727,503 (GRCm39) M42V possibly damaging Het
Hk2 C A 6: 82,705,823 (GRCm39) A827S probably benign Het
Hoxa5 T C 6: 52,179,694 (GRCm39) E227G probably damaging Het
Itgax C A 7: 127,729,504 (GRCm39) H31N possibly damaging Het
Itgax A G 7: 127,747,025 (GRCm39) D942G probably benign Het
Kars1 A T 8: 112,726,829 (GRCm39) probably null Het
Lama3 T C 18: 12,646,702 (GRCm39) F1739L probably damaging Het
Map2k1 A T 9: 64,112,445 (GRCm39) L155Q probably damaging Het
Mcf2l A T 8: 13,067,431 (GRCm39) D1013V probably damaging Het
Mocs1 G A 17: 49,742,224 (GRCm39) G118S probably damaging Het
Ncam2 T C 16: 81,229,650 (GRCm39) S37P probably damaging Het
Nfxl1 A G 5: 72,673,553 (GRCm39) probably null Het
Nodal C T 10: 61,259,300 (GRCm39) H246Y possibly damaging Het
Nwd1 G A 8: 73,421,950 (GRCm39) V999M possibly damaging Het
Oaz3 T A 3: 94,342,375 (GRCm39) T139S probably benign Het
Or6z6 T C 7: 6,491,367 (GRCm39) probably null Het
Or7e165 A G 9: 19,694,585 (GRCm39) D52G probably damaging Het
P3h3 T A 6: 124,822,606 (GRCm39) T522S probably benign Het
Pgap1 A G 1: 54,554,052 (GRCm39) F457S probably damaging Het
Prkce T C 17: 86,866,729 (GRCm39) Y530H probably damaging Het
Ptpn3 A T 4: 57,270,070 (GRCm39) C31S probably damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Serpinb6e T A 13: 34,025,220 (GRCm39) N24Y probably damaging Het
Slc4a8 T C 15: 100,709,452 (GRCm39) V937A possibly damaging Het
Smgc T A 15: 91,734,830 (GRCm39) probably benign Het
Srcap T A 7: 127,148,861 (GRCm39) N2027K probably damaging Het
Stra6l T C 4: 45,884,664 (GRCm39) Y565H probably benign Het
Tmem262 A G 19: 6,130,668 (GRCm39) E62G possibly damaging Het
Tnrc6a T A 7: 122,742,965 (GRCm39) probably null Het
Txlnb T C 10: 17,675,057 (GRCm39) I70T probably damaging Het
Whrn A T 4: 63,412,923 (GRCm39) L25* probably null Het
Zfp326 T A 5: 106,058,097 (GRCm39) V412E probably damaging Het
Zfp831 A G 2: 174,487,661 (GRCm39) R779G possibly damaging Het
Other mutations in Arhgap27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02318:Arhgap27 APN 11 103,223,989 (GRCm39) missense probably benign 0.00
IGL02946:Arhgap27 APN 11 103,229,174 (GRCm39) missense probably damaging 1.00
IGL03135:Arhgap27 APN 11 103,229,891 (GRCm39) splice site probably null
R1789:Arhgap27 UTSW 11 103,223,831 (GRCm39) missense probably damaging 1.00
R1842:Arhgap27 UTSW 11 103,230,822 (GRCm39) missense probably damaging 0.99
R1906:Arhgap27 UTSW 11 103,223,751 (GRCm39) missense probably damaging 1.00
R2884:Arhgap27 UTSW 11 103,251,669 (GRCm39) splice site probably null
R2885:Arhgap27 UTSW 11 103,251,669 (GRCm39) splice site probably null
R3157:Arhgap27 UTSW 11 103,224,663 (GRCm39) splice site probably null
R4679:Arhgap27 UTSW 11 103,251,775 (GRCm39) unclassified probably benign
R4708:Arhgap27 UTSW 11 103,224,388 (GRCm39) splice site probably benign
R4926:Arhgap27 UTSW 11 103,229,949 (GRCm39) splice site probably null
R5980:Arhgap27 UTSW 11 103,247,095 (GRCm39) missense probably benign 0.00
R7205:Arhgap27 UTSW 11 103,235,367 (GRCm39) missense probably benign 0.00
R7208:Arhgap27 UTSW 11 103,251,585 (GRCm39) missense probably damaging 1.00
R7212:Arhgap27 UTSW 11 103,251,581 (GRCm39) missense probably damaging 0.99
R7327:Arhgap27 UTSW 11 103,251,367 (GRCm39) nonsense probably null
R7598:Arhgap27 UTSW 11 103,224,879 (GRCm39) nonsense probably null
R7732:Arhgap27 UTSW 11 103,230,869 (GRCm39) missense probably benign 0.00
R7791:Arhgap27 UTSW 11 103,230,020 (GRCm39) critical splice donor site probably null
R7826:Arhgap27 UTSW 11 103,229,153 (GRCm39) missense probably benign
R7869:Arhgap27 UTSW 11 103,251,130 (GRCm39) missense probably damaging 0.96
R7949:Arhgap27 UTSW 11 103,228,595 (GRCm39) missense probably damaging 0.98
R8057:Arhgap27 UTSW 11 103,229,519 (GRCm39) missense probably damaging 1.00
R8397:Arhgap27 UTSW 11 103,224,073 (GRCm39) missense probably damaging 0.98
R8974:Arhgap27 UTSW 11 103,224,756 (GRCm39) missense possibly damaging 0.50
R9103:Arhgap27 UTSW 11 103,251,540 (GRCm39) missense probably damaging 1.00
R9373:Arhgap27 UTSW 11 103,251,287 (GRCm39) missense possibly damaging 0.52
R9397:Arhgap27 UTSW 11 103,231,115 (GRCm39) missense probably damaging 1.00
R9762:Arhgap27 UTSW 11 103,251,511 (GRCm39) missense probably benign 0.02
R9787:Arhgap27 UTSW 11 103,230,048 (GRCm39) missense possibly damaging 0.94
X0028:Arhgap27 UTSW 11 103,223,854 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- TAGTCGTAGGCCAGAGGTTC -3'
(R):5'- CAACGACACAGAATGGAATCTTAAG -3'

Sequencing Primer
(F):5'- AGAGGTTCCGGGACTGC -3'
(R):5'- CGTCCCCATTTCAGAGAAGG -3'
Posted On 2018-02-27