Incidental Mutation 'Y5409:Arhgap36'
ID 202688
Institutional Source Beutler Lab
Gene Symbol Arhgap36
Ensembl Gene ENSMUSG00000036198
Gene Name Rho GTPase activating protein 36
Synonyms 1100001E04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # Y5409 ()
Quality Score 225
Status Not validated
Chromosome X
Chromosomal Location 48552822-48589121 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48584310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 159 (N159D)
Ref Sequence ENSEMBL: ENSMUSP00000110554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042444] [ENSMUST00000114904] [ENSMUST00000130558]
AlphaFold B1AUC7
Predicted Effect probably benign
Transcript: ENSMUST00000042444
AA Change: N159D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040798
Gene: ENSMUSG00000036198
AA Change: N159D

DomainStartEndE-ValueType
low complexity region 145 158 N/A INTRINSIC
low complexity region 189 201 N/A INTRINSIC
RhoGAP 221 411 5.49e-46 SMART
Blast:RhoGAP 449 525 5e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000114904
AA Change: N159D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000110554
Gene: ENSMUSG00000036198
AA Change: N159D

DomainStartEndE-ValueType
low complexity region 145 158 N/A INTRINSIC
low complexity region 189 201 N/A INTRINSIC
RhoGAP 221 411 5.49e-46 SMART
Blast:RhoGAP 449 491 2e-8 BLAST
low complexity region 502 513 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130558
AA Change: N143D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000119757
Gene: ENSMUSG00000036198
AA Change: N143D

DomainStartEndE-ValueType
low complexity region 129 142 N/A INTRINSIC
low complexity region 173 185 N/A INTRINSIC
Pfam:RhoGAP 208 263 9e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132784
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151128
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 2 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Rhot2 G A 17: 26,063,269 (GRCm39) S19F probably damaging Het
Zfp24 C T 18: 24,150,912 (GRCm39) R78H possibly damaging Het
Other mutations in Arhgap36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Arhgap36 APN X 48,586,631 (GRCm39) missense probably damaging 1.00
IGL02135:Arhgap36 APN X 48,586,066 (GRCm39) missense possibly damaging 0.65
IGL02429:Arhgap36 APN X 48,583,583 (GRCm39) missense possibly damaging 0.68
R2237:Arhgap36 UTSW X 48,582,282 (GRCm39) missense possibly damaging 0.82
R2238:Arhgap36 UTSW X 48,582,282 (GRCm39) missense possibly damaging 0.82
R2239:Arhgap36 UTSW X 48,582,282 (GRCm39) missense possibly damaging 0.82
Y5407:Arhgap36 UTSW X 48,584,310 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTCAAGACCTTTGGCATCCG -3'
(R):5'- GCCAGACTAGCTTGAAATGAAG -3'

Sequencing Primer
(F):5'- TCCGCCTGGAAGAGGTACTG -3'
(R):5'- ACTCCTAAGTGGTTGCTGAGTGAC -3'
Posted On 2014-06-23