Incidental Mutation 'R8873:Arhgap35'
ID 676419
Institutional Source Beutler Lab
Gene Symbol Arhgap35
Ensembl Gene ENSMUSG00000058230
Gene Name Rho GTPase activating protein 35
Synonyms p190A, 6430596G11Rik, p190RhoGAP, Grlf1, P190 RhoGAP
MMRRC Submission 068686-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8873 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 16228398-16349313 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16295415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 1217 (N1217D)
Ref Sequence ENSEMBL: ENSMUSP00000075242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075845] [ENSMUST00000171937]
AlphaFold Q91YM2
Predicted Effect possibly damaging
Transcript: ENSMUST00000075845
AA Change: N1217D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075242
Gene: ENSMUSG00000058230
AA Change: N1217D

DomainStartEndE-ValueType
Pfam:Ras 154 249 6.1e-7 PFAM
FF 270 327 5.76e-9 SMART
FF 369 422 1.1e-5 SMART
FF 429 483 7.43e-12 SMART
FF 485 539 2.02e-4 SMART
Blast:RhoGAP 733 796 1e-7 BLAST
low complexity region 1037 1048 N/A INTRINSIC
low complexity region 1214 1225 N/A INTRINSIC
low complexity region 1227 1235 N/A INTRINSIC
RhoGAP 1259 1433 8.14e-72 SMART
low complexity region 1444 1457 N/A INTRINSIC
low complexity region 1462 1494 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000171937
AA Change: N1217D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127379
Gene: ENSMUSG00000058230
AA Change: N1217D

DomainStartEndE-ValueType
Pfam:Ras 154 249 6e-7 PFAM
FF 270 327 5.76e-9 SMART
FF 369 422 1.1e-5 SMART
FF 429 483 7.43e-12 SMART
FF 485 539 2.02e-4 SMART
Blast:RhoGAP 733 796 1e-7 BLAST
low complexity region 1037 1048 N/A INTRINSIC
low complexity region 1214 1225 N/A INTRINSIC
low complexity region 1227 1235 N/A INTRINSIC
RhoGAP 1259 1433 8.14e-72 SMART
low complexity region 1444 1457 N/A INTRINSIC
low complexity region 1462 1494 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (42/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The human glucocorticoid receptor DNA binding factor, which associates with the promoter region of the glucocorticoid receptor gene (hGR gene), is a repressor of glucocorticoid receptor transcription. The amino acid sequence deduced from the cDNA sequences show the presence of three sequence motifs characteristic of a zinc finger and one motif suggestive of a leucine zipper in which 1 cysteine is found instead of all leucines. The GRLF1 enhances the homologous down-regulation of wild-type hGR gene expression. Biochemical analysis suggests that GRLF1 interaction is sequence specific and that transcriptional efficacy of GRLF1 is regulated through its interaction with specific sequence motif. The level of expression is regulated by glucocorticoids. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene usually die within 2 days of birth and never survive beyond 3 weeks. Observed phenotypes include defects in eye morphogenesis, forebrain development, neural tube closure, axon guidance and fasciculation, and renal abnormalities, including hypoplastic and glomerulocystic kidneys, associated with a ciliogenesis defect. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd15 C A 11: 77,406,577 (GRCm39) R185S probably damaging Het
Aoah A G 13: 21,089,852 (GRCm39) N157D probably benign Het
Asah2 A T 19: 32,022,288 (GRCm39) probably null Het
Asb2 T C 12: 103,299,725 (GRCm39) N236D probably damaging Het
Auts2 A G 5: 131,472,502 (GRCm39) F317L Het
Cfap74 T C 4: 155,539,465 (GRCm39) I930T unknown Het
Cmip T C 8: 118,103,929 (GRCm39) V51A probably damaging Het
Col15a1 T C 4: 47,247,552 (GRCm39) probably null Het
Cstf3 A T 2: 104,475,355 (GRCm39) H97L possibly damaging Het
Dip2c A T 13: 9,625,182 (GRCm39) M559L probably benign Het
Dnah5 A G 15: 28,219,334 (GRCm39) N51D probably benign Het
Dock4 T A 12: 40,726,767 (GRCm39) Y348* probably null Het
Ehhadh C T 16: 21,581,598 (GRCm39) G465R probably damaging Het
Fam110b C T 4: 5,799,103 (GRCm39) Q174* probably null Het
Fam124a A G 14: 62,844,024 (GRCm39) T511A probably benign Het
Fbxl17 A G 17: 63,691,971 (GRCm39) V528A probably damaging Het
Fbxw24 C A 9: 109,453,996 (GRCm39) W50L probably damaging Het
Fyb2 A T 4: 104,856,538 (GRCm39) E582V probably damaging Het
Ganab G A 19: 8,888,243 (GRCm39) W463* probably null Het
Gm11569 G T 11: 99,689,210 (GRCm39) T163N unknown Het
Gm8237 G T 14: 5,862,453 (GRCm38) Y86* probably null Het
Hrh4 T A 18: 13,140,195 (GRCm39) M30K Het
Ifi209 A G 1: 173,470,156 (GRCm39) Y248C probably damaging Het
Jazf1 T A 6: 52,789,165 (GRCm39) H103L probably damaging Het
Ltbp1 A G 17: 75,486,172 (GRCm39) T66A probably damaging Het
Ndufa4 A G 6: 11,907,360 (GRCm39) L2P probably benign Het
Npnt G A 3: 132,655,816 (GRCm39) probably benign Het
Nrxn1 G T 17: 90,872,821 (GRCm39) C1052* probably null Het
Nsmce4a G T 7: 130,148,886 (GRCm39) A40E unknown Het
Or2t6 A T 14: 14,175,344 (GRCm38) V246E probably damaging Het
Pcdhgb2 T C 18: 37,824,341 (GRCm39) V444A probably damaging Het
Pcdhgb7 C T 18: 37,886,575 (GRCm39) P582S possibly damaging Het
Phf3 T C 1: 30,843,773 (GRCm39) T1729A possibly damaging Het
Plod2 T A 9: 92,489,112 (GRCm39) probably benign Het
Pramel15 G T 4: 144,099,871 (GRCm39) A298E probably benign Het
Rbm20 G T 19: 53,665,911 (GRCm39) V25F probably benign Het
Recql G T 6: 142,308,013 (GRCm39) Q53K Het
Rps18-ps6 T A 13: 97,896,843 (GRCm39) N85I probably damaging Het
Rtel1 CAAA CAA 2: 180,997,816 (GRCm39) probably null Het
Serpine2 A G 1: 79,799,267 (GRCm39) probably benign Het
Siglecg A G 7: 43,067,448 (GRCm39) T672A probably benign Het
Skil T C 3: 31,152,075 (GRCm39) L199P probably damaging Het
Tmprss11f C T 5: 86,692,733 (GRCm39) A64T probably damaging Het
Ttc3 C T 16: 94,243,842 (GRCm39) T1282M probably damaging Het
Other mutations in Arhgap35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:Arhgap35 APN 7 16,298,340 (GRCm39) missense probably benign 0.03
IGL00684:Arhgap35 APN 7 16,295,625 (GRCm39) missense possibly damaging 0.93
IGL01385:Arhgap35 APN 7 16,298,399 (GRCm39) missense probably damaging 0.96
IGL01411:Arhgap35 APN 7 16,298,192 (GRCm39) missense probably benign
IGL01922:Arhgap35 APN 7 16,298,180 (GRCm39) missense possibly damaging 0.73
IGL01977:Arhgap35 APN 7 16,297,128 (GRCm39) missense probably damaging 1.00
IGL02074:Arhgap35 APN 7 16,296,980 (GRCm39) missense probably benign 0.19
IGL02305:Arhgap35 APN 7 16,297,590 (GRCm39) missense probably benign 0.15
IGL02342:Arhgap35 APN 7 16,296,305 (GRCm39) missense probably benign 0.12
IGL02973:Arhgap35 APN 7 16,296,803 (GRCm39) missense possibly damaging 0.50
IGL02989:Arhgap35 APN 7 16,231,580 (GRCm39) makesense probably null
PIT4382001:Arhgap35 UTSW 7 16,297,794 (GRCm39) missense possibly damaging 0.95
PIT4431001:Arhgap35 UTSW 7 16,295,536 (GRCm39) missense possibly damaging 0.87
R0047:Arhgap35 UTSW 7 16,295,917 (GRCm39) missense probably benign 0.17
R1690:Arhgap35 UTSW 7 16,297,206 (GRCm39) missense probably damaging 1.00
R1820:Arhgap35 UTSW 7 16,295,874 (GRCm39) missense possibly damaging 0.92
R2036:Arhgap35 UTSW 7 16,297,058 (GRCm39) missense probably damaging 1.00
R2205:Arhgap35 UTSW 7 16,231,950 (GRCm39) splice site probably null
R2292:Arhgap35 UTSW 7 16,297,476 (GRCm39) missense probably damaging 1.00
R3079:Arhgap35 UTSW 7 16,296,501 (GRCm39) missense probably damaging 1.00
R3745:Arhgap35 UTSW 7 16,297,647 (GRCm39) missense probably damaging 1.00
R3762:Arhgap35 UTSW 7 16,299,000 (GRCm39) missense probably damaging 0.98
R4661:Arhgap35 UTSW 7 16,298,663 (GRCm39) missense probably damaging 1.00
R4709:Arhgap35 UTSW 7 16,297,511 (GRCm39) missense probably damaging 0.97
R4749:Arhgap35 UTSW 7 16,232,551 (GRCm39) missense possibly damaging 0.95
R5081:Arhgap35 UTSW 7 16,299,059 (GRCm39) missense possibly damaging 0.71
R5131:Arhgap35 UTSW 7 16,245,112 (GRCm39) splice site probably null
R5175:Arhgap35 UTSW 7 16,296,524 (GRCm39) missense probably damaging 1.00
R5440:Arhgap35 UTSW 7 16,296,849 (GRCm39) missense probably damaging 1.00
R5517:Arhgap35 UTSW 7 16,297,414 (GRCm39) missense probably damaging 1.00
R5987:Arhgap35 UTSW 7 16,297,392 (GRCm39) missense possibly damaging 0.84
R6087:Arhgap35 UTSW 7 16,297,568 (GRCm39) missense probably damaging 1.00
R6139:Arhgap35 UTSW 7 16,297,392 (GRCm39) missense possibly damaging 0.84
R6396:Arhgap35 UTSW 7 16,296,224 (GRCm39) missense probably damaging 0.99
R6878:Arhgap35 UTSW 7 16,299,038 (GRCm39) missense probably benign 0.00
R7063:Arhgap35 UTSW 7 16,299,038 (GRCm39) missense probably benign 0.00
R7150:Arhgap35 UTSW 7 16,296,491 (GRCm39) missense probably damaging 0.96
R7269:Arhgap35 UTSW 7 16,295,652 (GRCm39) missense probably benign
R7276:Arhgap35 UTSW 7 16,298,493 (GRCm39) missense probably damaging 1.00
R7517:Arhgap35 UTSW 7 16,296,132 (GRCm39) missense probably benign 0.31
R7593:Arhgap35 UTSW 7 16,298,786 (GRCm39) missense probably damaging 1.00
R7775:Arhgap35 UTSW 7 16,296,573 (GRCm39) missense probably benign 0.01
R7792:Arhgap35 UTSW 7 16,295,453 (GRCm39) missense possibly damaging 0.88
R8101:Arhgap35 UTSW 7 16,296,244 (GRCm39) missense probably benign 0.00
R8956:Arhgap35 UTSW 7 16,348,404 (GRCm39) start gained probably benign
R9163:Arhgap35 UTSW 7 16,295,549 (GRCm39) missense possibly damaging 0.94
R9507:Arhgap35 UTSW 7 16,297,343 (GRCm39) missense probably benign 0.31
R9667:Arhgap35 UTSW 7 16,296,914 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CGTGGTCATGAAATCTCACATCC -3'
(R):5'- ACAGGACAAGATGCACTCG -3'

Sequencing Primer
(F):5'- TTTAAAAACCAAGCTGTCGGGCTG -3'
(R):5'- ACAAGATGCACTCGCCTGG -3'
Posted On 2021-07-15