Incidental Mutation 'R7269:Arhgap35'
ID 565146
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 045320-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7269 (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 G at 16295652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1138 (M1138L)
Ref Sequence ENSEMBL: ENSMUSP00000075242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075845] [ENSMUST00000171937]
AlphaFold Q91YM2
Predicted Effect probably benign
Transcript: ENSMUST00000075845
AA Change: M1138L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075242
Gene: ENSMUSG00000058230
AA Change: M1138L

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 benign
Transcript: ENSMUST00000171937
AA Change: M1138L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127379
Gene: ENSMUSG00000058230
AA Change: M1138L

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: 99.2%
Validation Efficiency 98% (85/87)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A T 18: 24,606,013 (GRCm39) N36I probably damaging Het
A430033K04Rik T A 5: 138,645,014 (GRCm39) Y300N possibly damaging Het
Adipor2 T C 6: 119,347,205 (GRCm39) Q26R probably benign Het
Ahnak T A 19: 8,983,981 (GRCm39) M1755K probably damaging Het
Ahnak2 A T 12: 112,780,802 (GRCm38) V70E Het
AI837181 C A 19: 5,476,462 (GRCm39) S208R probably damaging Het
Card14 T G 11: 119,228,573 (GRCm39) L633R probably damaging Het
Carmil3 A G 14: 55,731,352 (GRCm39) T144A probably benign Het
Cbfa2t2 T A 2: 154,357,895 (GRCm39) N223K probably benign Het
Ccdc39 T C 3: 33,884,254 (GRCm39) I363V probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Ccpg1 G T 9: 72,920,609 (GRCm39) R741S probably benign Het
Cenpc1 A G 5: 86,161,366 (GRCm39) F855L probably damaging Het
Cenpc1 A T 5: 86,180,277 (GRCm39) M665K probably benign Het
Cp A G 3: 20,037,641 (GRCm39) H832R probably damaging Het
Defa24 A G 8: 22,224,565 (GRCm39) I5V probably benign Het
Dlc1 A C 8: 37,046,407 (GRCm39) L730R probably damaging Het
Dmbt1 A T 7: 130,668,351 (GRCm39) I536F unknown Het
Dscam G A 16: 96,479,601 (GRCm39) T1182I probably benign Het
Eea1 A T 10: 95,854,000 (GRCm39) I553F probably damaging Het
Far1 T C 7: 113,160,654 (GRCm39) V400A probably benign Het
Fbrsl1 A T 5: 110,580,880 (GRCm39) S126T probably benign Het
Frmpd2 A T 14: 33,244,838 (GRCm39) E552V possibly damaging Het
Gm5431 T A 11: 48,779,237 (GRCm39) T562S probably benign Het
Gm5475 T C 15: 100,324,890 (GRCm39) F106S unknown Het
Gpr12 T C 5: 146,520,188 (GRCm39) T245A probably damaging Het
Gsta2 A G 9: 78,239,419 (GRCm39) Y166H probably benign Het
H6pd A G 4: 150,067,369 (GRCm39) V347A probably benign Het
Ifih1 T C 2: 62,475,977 (GRCm39) T100A probably benign Het
Ift70b A G 2: 75,767,838 (GRCm39) F305S probably damaging Het
Itga2 C T 13: 115,023,225 (GRCm39) W59* probably null Het
Knstrn T A 2: 118,661,869 (GRCm39) probably null Het
Kprp A G 3: 92,731,178 (GRCm39) V624A probably damaging Het
Lmbrd2 A G 15: 9,194,771 (GRCm39) Y591C probably damaging Het
Map7d1 A G 4: 126,126,666 (GRCm39) V842A unknown Het
Mboat2 A T 12: 24,881,708 (GRCm39) T4S probably benign Het
Mcph1 T A 8: 18,657,288 (GRCm39) probably null Het
Mrtfb A T 16: 13,218,898 (GRCm39) M515L possibly damaging Het
Muc5b A G 7: 141,411,272 (GRCm39) D1406G unknown Het
Mylk G A 16: 34,605,381 (GRCm39) G3D probably damaging Het
Ndst4 A G 3: 125,232,007 (GRCm39) D192G probably damaging Het
Nemp1 G T 10: 127,531,345 (GRCm39) R361L probably damaging Het
Nol4 A C 18: 23,172,846 (GRCm39) V85G probably benign Het
Nrbf2 G A 10: 67,103,605 (GRCm39) T166M probably damaging Het
Obscn T C 11: 58,933,838 (GRCm39) E5342G probably damaging Het
Or10al7 C A 17: 38,366,442 (GRCm39) C5F probably damaging Het
Or4f47 T A 2: 111,972,905 (GRCm39) F205Y probably damaging Het
Or4p19 C T 2: 88,242,839 (GRCm39) M54I possibly damaging Het
Or51d1 T G 7: 102,348,252 (GRCm39) L269R probably damaging Het
Or7d10 A G 9: 19,831,631 (GRCm39) N42S possibly damaging Het
Pakap G T 4: 57,855,217 (GRCm39) R182L probably damaging Het
Pde4dip A G 3: 97,674,275 (GRCm39) S214P probably damaging Het
Per3 A T 4: 151,116,393 (GRCm39) C278* probably null Het
Pi4k2a T C 19: 42,079,125 (GRCm39) L62P probably damaging Het
Plekha7 C A 7: 115,780,447 (GRCm39) G126W probably damaging Het
Ppp1r13b T C 12: 111,801,353 (GRCm39) K567E probably damaging Het
Pradc1 T A 6: 85,424,548 (GRCm39) Q134L probably benign Het
Pwp2 A G 10: 78,012,170 (GRCm39) F628L probably benign Het
Rab5c C T 11: 100,606,928 (GRCm39) G217D probably benign Het
Rad51ap2 G T 12: 11,506,807 (GRCm39) S243I possibly damaging Het
Rasgrp4 C A 7: 28,847,855 (GRCm39) R432S probably damaging Het
Rhot2 C T 17: 26,061,402 (GRCm39) probably null Het
Scn2a T A 2: 65,594,113 (GRCm39) L1654Q probably damaging Het
Skint6 A T 4: 112,711,686 (GRCm39) probably null Het
Slc22a28 T A 19: 8,094,491 (GRCm39) T177S probably benign Het
Slc25a24 G T 3: 109,065,960 (GRCm39) Q272H probably null Het
Slc3a1 A T 17: 85,339,873 (GRCm39) I144F probably damaging Het
Smg9 C T 7: 24,105,495 (GRCm39) R176C possibly damaging Het
Sorl1 A T 9: 41,948,499 (GRCm39) L762Q probably damaging Het
Srebf2 C A 15: 82,088,270 (GRCm39) P1079T probably benign Het
Sub1 A T 15: 11,993,937 (GRCm39) S4T probably benign Het
Tacr1 A T 6: 82,469,692 (GRCm39) Y192F probably benign Het
Tm4sf19 A T 16: 32,224,814 (GRCm39) H54L probably damaging Het
Tnxb T C 17: 34,914,428 (GRCm39) L1838P probably damaging Het
Trmt1l T C 1: 151,333,539 (GRCm39) S681P possibly damaging Het
Ttn A G 2: 76,738,176 (GRCm39) V4167A unknown Het
Unc13d T A 11: 115,959,056 (GRCm39) M702L probably benign Het
Vgll3 A G 16: 65,636,404 (GRCm39) H240R probably benign Het
Vmn1r189 C G 13: 22,286,737 (GRCm39) W33C probably benign Het
Vmn2r17 G A 5: 109,576,337 (GRCm39) A403T possibly damaging Het
Vmn2r2 G A 3: 64,033,998 (GRCm39) T508I probably benign Het
Vps54 T A 11: 21,227,670 (GRCm39) probably null Het
Wfs1 G A 5: 37,125,134 (GRCm39) Q586* probably null Het
Zbp1 A T 2: 173,055,665 (GRCm39) H166Q unknown Het
Zcchc3 G A 2: 152,256,294 (GRCm39) A135V probably benign Het
Zfp51 T C 17: 21,683,960 (GRCm39) Y192H probably benign Het
Zkscan2 T C 7: 123,088,994 (GRCm39) T426A probably benign 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
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'- TAACCTTGGGATGCCTGGTC -3'
(R):5'- ACTTAGACCAAGGCCATCGG -3'

Sequencing Primer
(F):5'- GGATGCCTGGTCCTCCTC -3'
(R):5'- CAGAGGAAATCTATGTCTTCTAGCCC -3'
Posted On 2019-06-26