Incidental Mutation 'R7949:Arhgap27'
ID 649476
Institutional Source Beutler Lab
Gene Symbol Arhgap27
Ensembl Gene ENSMUSG00000034255
Gene Name Rho GTPase activating protein 27
Synonyms 5730442P18Rik, Sh3d20, 2310069I04Rik
MMRRC Submission 045994-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R7949 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 103222323-103254518 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103228595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 349 (S349P)
Ref Sequence ENSEMBL: ENSMUSP00000039427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041385] [ENSMUST00000107023] [ENSMUST00000107024] [ENSMUST00000136491]
AlphaFold A2AB59
Predicted Effect probably damaging
Transcript: ENSMUST00000041385
AA Change: S349P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039427
Gene: ENSMUSG00000034255
AA Change: S349P

DomainStartEndE-ValueType
WW 48 81 3.49e-8 SMART
WW 101 134 7.44e-3 SMART
WW 216 248 2.32e-4 SMART
PH 279 396 1.08e-9 SMART
Blast:RhoGAP 446 480 2e-10 BLAST
RhoGAP 489 664 1.45e-68 SMART
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: S548P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102639
Gene: ENSMUSG00000034255
AA Change: S548P

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 probably benign
Transcript: ENSMUST00000136491
SMART Domains Protein: ENSMUSP00000128051
Gene: ENSMUSG00000034255

DomainStartEndE-ValueType
Blast:WW 52 81 4e-10 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (47/47)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,303,353 (GRCm39) T6111M probably damaging Het
Adprhl1 T G 8: 13,274,225 (GRCm39) R844S possibly damaging Het
Aldh1b1 A G 4: 45,802,807 (GRCm39) E115G possibly damaging Het
Anp32a A G 9: 62,280,948 (GRCm39) E170G unknown Het
Asns T A 6: 7,685,328 (GRCm39) I110F probably damaging Het
Atad3a T C 4: 155,833,152 (GRCm39) H437R possibly damaging Het
Atl2 C A 17: 80,167,289 (GRCm39) R244L probably damaging Het
Bcl2l14 A T 6: 134,407,083 (GRCm39) D222V probably damaging Het
Ccdc102a G T 8: 95,631,913 (GRCm39) Q498K probably damaging Het
Cdc14b T C 13: 64,338,212 (GRCm39) probably null Het
Cdcp3 G A 7: 130,895,324 (GRCm39) probably null Het
Cep162 T A 9: 87,088,901 (GRCm39) M994L probably benign Het
Ddx18 A G 1: 121,483,047 (GRCm39) Y580H probably damaging Het
Entpd6 C A 2: 150,612,197 (GRCm39) probably null Het
Fer T A 17: 64,440,503 (GRCm39) S707T probably damaging Het
Gabra6 A G 11: 42,207,826 (GRCm39) V215A probably benign Het
Gm20671 A G 5: 32,977,288 (GRCm39) V142A probably benign Het
Gtf3c1 G T 7: 125,250,253 (GRCm39) N1439K probably benign Het
Igbp1b T C 6: 138,635,414 (GRCm39) K10R probably benign Het
Ighv5-8 TATATATATATATATATATATATA TATATATATATATATATATATATATA 12: 113,618,563 (GRCm39) probably null Het
Igkv12-44 A T 6: 69,791,874 (GRCm39) S30T probably benign Het
Immt A T 6: 71,851,327 (GRCm39) R563* probably null Het
Jakmip1 A T 5: 37,339,492 (GRCm39) Q1231L probably damaging Het
Jsrp1 T C 10: 80,647,906 (GRCm39) T51A probably benign Het
Krtap31-1 A G 11: 99,799,144 (GRCm39) T116A possibly damaging Het
Lrp8 T A 4: 107,660,524 (GRCm39) D61E probably damaging Het
Mark2 T C 19: 7,262,081 (GRCm39) D311G probably benign Het
Men1 C T 19: 6,388,323 (GRCm39) S314L possibly damaging Het
Nxpe2 T C 9: 48,234,397 (GRCm39) N290S possibly damaging Het
Or2f2 T C 6: 42,767,588 (GRCm39) V205A possibly damaging Het
Or5b105 T A 19: 13,080,610 (GRCm39) probably null Het
Pcolce2 A T 9: 95,576,688 (GRCm39) T320S probably benign Het
Phc2 C T 4: 128,603,401 (GRCm39) T177M probably damaging Het
Phf21b G T 15: 84,676,036 (GRCm39) P337H probably damaging Het
Pinlyp G T 7: 24,245,375 (GRCm39) T15K probably damaging Het
Ppox A T 1: 171,105,521 (GRCm39) S307R probably benign Het
Ptk7 T A 17: 46,897,387 (GRCm39) E315V possibly damaging Het
Pxk T C 14: 8,144,233 (GRCm38) I327T probably damaging Het
Rabgap1 A T 2: 37,453,491 (GRCm39) K973I probably benign Het
Rbbp8 A T 18: 11,851,892 (GRCm39) I238L probably benign Het
Runx2 T A 17: 45,046,442 (GRCm39) D109V possibly damaging Het
Serpinb6a G A 13: 34,107,003 (GRCm39) S183L probably benign Het
Slco1a8 C A 6: 141,939,991 (GRCm39) G171C probably damaging Het
Sptlc3 T C 2: 139,467,795 (GRCm39) I451T possibly damaging Het
Sugp1 A T 8: 70,509,153 (GRCm39) Y142F possibly damaging Het
Sumf2 T C 5: 129,881,759 (GRCm39) F98S probably damaging Het
Tmem120a C T 5: 135,771,220 (GRCm39) E39K possibly damaging Het
Tnxb C T 17: 34,936,103 (GRCm39) P2680L probably damaging Het
Zfp78 C G 7: 6,382,365 (GRCm39) R472G 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
R6212:Arhgap27 UTSW 11 103,251,698 (GRCm39) missense probably damaging 1.00
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
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'- AGCATGACAACACTAGGCATG -3'
(R):5'- CTTTAGCAAGCCCATCTGGATG -3'

Sequencing Primer
(F):5'- CAACACTAGGCATGAGTTTTTGAGTC -3'
(R):5'- GATGGATGCCCCTTATAATTTTGC -3'
Posted On 2020-09-15