Incidental Mutation 'R2036:Arhgap35'
ID 224638
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 040043-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2036 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 16228398-16349313 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16297058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 669 (E669G)
Ref Sequence ENSEMBL: ENSMUSP00000127379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075845] [ENSMUST00000171937]
AlphaFold Q91YM2
Predicted Effect probably damaging
Transcript: ENSMUST00000075845
AA Change: E669G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075242
Gene: ENSMUSG00000058230
AA Change: E669G

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 probably damaging
Transcript: ENSMUST00000171937
AA Change: E669G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127379
Gene: ENSMUSG00000058230
AA Change: E669G

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
Meta Mutation Damage Score 0.7281 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 100% (58/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930415H17Rik C T 11: 99,576,358 (GRCm39) C3Y unknown Het
Abr G T 11: 76,343,176 (GRCm39) T547K probably benign Het
Akr1c21 T C 13: 4,626,305 (GRCm39) Y110H probably damaging Het
Ankar T A 1: 72,705,689 (GRCm39) K556* probably null Het
Anks1b T C 10: 90,805,715 (GRCm39) V431A probably damaging Het
Ap5b1 T C 19: 5,618,897 (GRCm39) S106P possibly damaging Het
Arhgap17 T C 7: 122,917,717 (GRCm39) N156D possibly damaging Het
Arhgap44 T C 11: 64,932,318 (GRCm39) M201V possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atg4c C T 4: 99,106,376 (GRCm39) T112M possibly damaging Het
Bcl11a A T 11: 24,114,087 (GRCm39) N477Y possibly damaging Het
Brinp3 A T 1: 146,577,579 (GRCm39) I205F possibly damaging Het
Capza2 T C 6: 17,660,777 (GRCm39) F159S probably damaging Het
Cd40 T C 2: 164,904,221 (GRCm39) C61R probably benign Het
Cdc25c G C 18: 34,871,292 (GRCm39) L275V probably damaging Het
Cdh23 A G 10: 60,301,822 (GRCm39) I415T possibly damaging Het
Clnk A T 5: 38,910,143 (GRCm39) probably null Het
Ctcfl C T 2: 172,943,778 (GRCm39) R524Q possibly damaging Het
Cyb5r4 T G 9: 86,924,932 (GRCm39) probably benign Het
Ddb1 T A 19: 10,588,186 (GRCm39) probably benign Het
Ddx51 C A 5: 110,804,491 (GRCm39) Q526K probably benign Het
Dennd6a A T 14: 26,329,274 (GRCm39) Q56L probably damaging Het
Dhdds T C 4: 133,698,410 (GRCm39) E142G probably damaging Het
Dnai1 A G 4: 41,632,225 (GRCm39) H553R probably damaging Het
Fryl T C 5: 73,179,887 (GRCm39) N2908S probably benign Het
Fryl C A 5: 73,265,305 (GRCm39) probably null Het
Fut9 A G 4: 25,620,322 (GRCm39) I164T probably damaging Het
Gba2 G A 4: 43,568,118 (GRCm39) probably benign Het
Gm11627 C T 11: 102,467,580 (GRCm39) V33I unknown Het
Helz2 T A 2: 180,879,272 (GRCm39) H782L probably benign Het
Kcnmb3 A G 3: 32,526,531 (GRCm39) V220A probably damaging Het
Kif20a T C 18: 34,761,515 (GRCm39) S303P possibly damaging Het
Kif22 A T 7: 126,630,126 (GRCm39) V470E possibly damaging Het
Majin C T 19: 6,263,342 (GRCm39) T132M probably benign Het
Mboat7 A G 7: 3,688,671 (GRCm39) probably null Het
Mkrn2 C A 6: 115,588,875 (GRCm39) P206Q probably benign Het
Mphosph9 G A 5: 124,442,274 (GRCm39) T358M probably damaging Het
Nkd1 A G 8: 89,318,305 (GRCm39) D210G probably damaging Het
Or4c110 C T 2: 88,831,976 (GRCm39) V219I probably damaging Het
Or4k41 T A 2: 111,279,971 (GRCm39) L162Q possibly damaging Het
Or5ae2 G T 7: 84,505,566 (GRCm39) probably benign Het
Or5b95 G C 19: 12,658,165 (GRCm39) G231A probably damaging Het
Or5p69 T A 7: 107,966,947 (GRCm39) N83K probably benign Het
Or6c35 G A 10: 129,169,541 (GRCm39) D264N probably benign Het
Or9s15 A T 1: 92,524,328 (GRCm39) E29V probably benign Het
Pi4ka A G 16: 17,120,976 (GRCm39) Y63H probably damaging Het
Plekha1 A G 7: 130,503,922 (GRCm39) R210G probably damaging Het
Ppp2r2c C T 5: 37,109,748 (GRCm39) T369I possibly damaging Het
Relch A G 1: 105,670,979 (GRCm39) D1029G probably damaging Het
Rmnd1 T C 10: 4,357,884 (GRCm39) D12G probably damaging Het
Rtn2 A G 7: 19,027,664 (GRCm39) K120E probably damaging Het
Sh3tc1 A G 5: 35,873,508 (GRCm39) S30P probably benign Het
Tln2 T C 9: 67,179,986 (GRCm39) E795G possibly damaging Het
Tmprss11d T A 5: 86,457,128 (GRCm39) Y177F probably damaging Het
Trrap C A 5: 144,765,372 (GRCm39) D2529E probably benign Het
Vmn2r58 A G 7: 41,513,417 (GRCm39) Y409H probably benign Het
Wdr72 T A 9: 74,058,876 (GRCm39) V323D 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
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
R8873:Arhgap35 UTSW 7 16,295,415 (GRCm39) missense possibly damaging 0.92
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'- GTTGCGTCCATAACCAATGCC -3'
(R):5'- TGGCCAATGAAATTCGAGCTC -3'

Sequencing Primer
(F):5'- ACACACTGAAGTTTGCTGGC -3'
(R):5'- GCCAATGAAATTCGAGCTCTTTGTAC -3'
Posted On 2014-08-25