Incidental Mutation 'R7241:Arhgap33'
ID 563201
Institutional Source Beutler Lab
Gene Symbol Arhgap33
Ensembl Gene ENSMUSG00000036882
Gene Name Rho GTPase activating protein 33
Synonyms Snx26, Tcgap, NOMA-GAP
MMRRC Submission 045348-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R7241 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 30221651-30234485 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30228146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 412 (L412P)
Ref Sequence ENSEMBL: ENSMUSP00000038412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044338] [ENSMUST00000207858] [ENSMUST00000207860] [ENSMUST00000208491] [ENSMUST00000208522] [ENSMUST00000208538]
AlphaFold Q80YF9
Predicted Effect probably damaging
Transcript: ENSMUST00000044338
AA Change: L412P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038412
Gene: ENSMUSG00000036882
AA Change: L412P

DomainStartEndE-ValueType
low complexity region 45 58 N/A INTRINSIC
SH3 213 271 5.32e-12 SMART
low complexity region 318 335 N/A INTRINSIC
RhoGAP 350 531 4.05e-67 SMART
low complexity region 582 595 N/A INTRINSIC
low complexity region 597 609 N/A INTRINSIC
low complexity region 675 686 N/A INTRINSIC
low complexity region 694 733 N/A INTRINSIC
low complexity region 770 798 N/A INTRINSIC
low complexity region 832 850 N/A INTRINSIC
low complexity region 894 940 N/A INTRINSIC
low complexity region 979 988 N/A INTRINSIC
low complexity region 1076 1086 N/A INTRINSIC
low complexity region 1158 1166 N/A INTRINSIC
low complexity region 1194 1216 N/A INTRINSIC
low complexity region 1284 1291 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000207858
AA Change: L388P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000207860
AA Change: L412P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208491
Predicted Effect probably benign
Transcript: ENSMUST00000208522
Predicted Effect probably damaging
Transcript: ENSMUST00000208538
AA Change: L412P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a null mutation display region specific thinning of the cerebral cortex with reduced dendritic complexity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,846,184 (GRCm39) T612A probably damaging Het
Acacb G A 5: 114,383,161 (GRCm39) A2115T possibly damaging Het
Adam32 T C 8: 25,388,510 (GRCm39) K398R probably benign Het
Adam9 T A 8: 25,441,002 (GRCm39) I824F possibly damaging Het
Ahnak A G 19: 8,986,395 (GRCm39) I2560V possibly damaging Het
Ank3 G A 10: 69,542,644 (GRCm39) M1I probably null Het
Anks1b T G 10: 90,348,699 (GRCm39) I789S probably damaging Het
Ap2b1 T A 11: 83,241,931 (GRCm39) N641K probably benign Het
Atp13a3 T A 16: 30,171,095 (GRCm39) M317L possibly damaging Het
B4galt5 A G 2: 167,148,617 (GRCm39) L167P probably damaging Het
Bace2 T C 16: 97,237,998 (GRCm39) I483T possibly damaging Het
C2cd3 A C 7: 100,056,257 (GRCm39) K177T Het
Ccr4 T C 9: 114,322,024 (GRCm39) T14A probably benign Het
Cep250 A T 2: 155,833,472 (GRCm39) H1799L probably benign Het
Cgnl1 T C 9: 71,632,052 (GRCm39) Q433R probably benign Het
Copb1 C T 7: 113,836,591 (GRCm39) V384M probably damaging Het
Cyp2c50 T A 19: 40,079,012 (GRCm39) N118K probably benign Het
Cyp4a32 A G 4: 115,459,499 (GRCm39) I78V probably benign Het
Cyth4 A G 15: 78,491,245 (GRCm39) K108R probably benign Het
Dnah1 T C 14: 30,986,896 (GRCm39) H3632R probably benign Het
Dnah3 T C 7: 119,542,856 (GRCm39) I540V probably benign Het
Dock4 A G 12: 40,844,859 (GRCm39) Y1174C probably damaging Het
Drd5 A G 5: 38,477,879 (GRCm39) T291A probably damaging Het
Eeig1 A G 2: 32,448,076 (GRCm39) R62G probably benign Het
Fbn1 T C 2: 125,148,415 (GRCm39) N2611S possibly damaging Het
Fcsk A G 8: 111,622,529 (GRCm39) I133T probably benign Het
Fhod3 A G 18: 25,193,409 (GRCm39) E640G probably damaging Het
Flvcr2 T A 12: 85,852,013 (GRCm39) D522E probably benign Het
Ganc T A 2: 120,272,010 (GRCm39) I556K probably damaging Het
Gjc2 T A 11: 59,067,960 (GRCm39) E174V unknown Het
Gzmd G A 14: 56,368,799 (GRCm39) R32C probably damaging Het
Hltf T A 3: 20,119,556 (GRCm39) H200Q probably benign Het
Ift88 A G 14: 57,717,454 (GRCm39) I559M probably damaging Het
Ighv1-62-1 C A 12: 115,350,322 (GRCm39) C115F probably damaging Het
Impdh2 A G 9: 108,440,636 (GRCm39) N279S possibly damaging Het
Itpr1 T C 6: 108,494,581 (GRCm39) probably null Het
Kansl1l T C 1: 66,840,787 (GRCm39) N171S possibly damaging Het
Kif14 T A 1: 136,396,491 (GRCm39) C266S probably benign Het
Kif19b A G 5: 140,447,943 (GRCm39) T137A probably damaging Het
Lrriq1 A C 10: 103,051,834 (GRCm39) V306G probably damaging Het
Mast4 G A 13: 103,470,508 (GRCm39) R65W possibly damaging Het
Mex3d T C 10: 80,223,091 (GRCm39) D55G Het
Mrps27 A T 13: 99,547,788 (GRCm39) K233* probably null Het
Myo1f A G 17: 33,798,902 (GRCm39) N189S probably damaging Het
Nbn A T 4: 15,991,190 (GRCm39) K729N probably benign Het
Or1e35 T C 11: 73,798,058 (GRCm39) S87G probably benign Het
Or8k35 C A 2: 86,424,498 (GRCm39) V225F possibly damaging Het
Pgghg T C 7: 140,525,633 (GRCm39) S479P Het
Plaat5 A G 19: 7,591,946 (GRCm39) T121A probably benign Het
Polr1e A C 4: 45,029,340 (GRCm39) H315P probably damaging Het
Pou6f2 A G 13: 18,299,874 (GRCm39) V595A Het
Prdm15 T C 16: 97,596,941 (GRCm39) D960G possibly damaging Het
Prkcz A T 4: 155,353,516 (GRCm39) M460K probably benign Het
Prkd2 G T 7: 16,591,730 (GRCm39) R587L probably benign Het
Prkn C A 17: 12,073,748 (GRCm39) N355K possibly damaging Het
Rabep1 C A 11: 70,830,815 (GRCm39) T829N probably damaging Het
Rptn A G 3: 93,303,261 (GRCm39) E198G probably benign Het
Ryr2 A T 13: 11,680,799 (GRCm39) I3182N possibly damaging Het
Sectm1a T A 11: 120,960,708 (GRCm39) I36F possibly damaging Het
Sez6l T C 5: 112,621,346 (GRCm39) S243G probably benign Het
Spata31h1 T C 10: 82,122,876 (GRCm39) E3378G probably benign Het
Taf2 T A 15: 54,925,537 (GRCm39) H235L probably benign Het
Tbc1d7 T C 13: 43,306,493 (GRCm39) Q161R probably benign Het
Tfcp2 T C 15: 100,416,468 (GRCm39) T271A possibly damaging Het
Thrsp G T 7: 97,066,295 (GRCm39) T139K probably damaging Het
Timm10 T A 2: 84,660,333 (GRCm39) *91R probably null Het
Tlr11 T A 14: 50,599,598 (GRCm39) I528N possibly damaging Het
Tnnt2 T A 1: 135,779,444 (GRCm39) L278Q probably damaging Het
Toe1 A T 4: 116,664,715 (GRCm39) M1K probably null Het
Trpv5 G A 6: 41,652,242 (GRCm39) R148* probably null Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Ttn A G 2: 76,783,550 (GRCm39) V860A unknown Het
Txnip T C 3: 96,466,991 (GRCm39) Y222H probably damaging Het
Ubr4 G A 4: 139,170,725 (GRCm39) S1600N probably damaging Het
Uhrf1 T C 17: 56,622,193 (GRCm39) Y364H probably damaging Het
Unc5a A T 13: 55,138,833 (GRCm39) T71S probably damaging Het
Vmn1r123 A T 7: 20,896,537 (GRCm39) Y143F possibly damaging Het
Vmn1r180 T A 7: 23,651,891 (GRCm39) I18N probably damaging Het
Washc2 A G 6: 116,185,168 (GRCm39) M1V probably null Het
Zfp174 C A 16: 3,666,111 (GRCm39) H125Q probably benign Het
Zfpl1 T C 19: 6,131,943 (GRCm39) H227R possibly damaging Het
Other mutations in Arhgap33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Arhgap33 APN 7 30,229,371 (GRCm39) missense probably damaging 0.99
IGL02176:Arhgap33 APN 7 30,223,476 (GRCm39) missense possibly damaging 0.76
IGL02430:Arhgap33 APN 7 30,222,185 (GRCm39) missense probably benign 0.07
IGL03091:Arhgap33 APN 7 30,227,718 (GRCm39) missense probably damaging 1.00
R0276:Arhgap33 UTSW 7 30,222,669 (GRCm39) missense probably benign 0.01
R0494:Arhgap33 UTSW 7 30,223,921 (GRCm39) missense probably damaging 0.98
R0597:Arhgap33 UTSW 7 30,225,871 (GRCm39) missense probably damaging 1.00
R0717:Arhgap33 UTSW 7 30,227,774 (GRCm39) missense probably damaging 1.00
R1661:Arhgap33 UTSW 7 30,231,748 (GRCm39) missense probably damaging 1.00
R1761:Arhgap33 UTSW 7 30,232,488 (GRCm39) splice site probably null
R1882:Arhgap33 UTSW 7 30,222,234 (GRCm39) missense probably damaging 1.00
R2161:Arhgap33 UTSW 7 30,228,075 (GRCm39) splice site probably null
R2566:Arhgap33 UTSW 7 30,226,654 (GRCm39) missense probably damaging 1.00
R4353:Arhgap33 UTSW 7 30,223,561 (GRCm39) missense possibly damaging 0.95
R4552:Arhgap33 UTSW 7 30,218,533 (GRCm39) unclassified probably benign
R4778:Arhgap33 UTSW 7 30,231,518 (GRCm39) missense probably benign
R4887:Arhgap33 UTSW 7 30,231,617 (GRCm39) missense probably damaging 0.99
R4957:Arhgap33 UTSW 7 30,231,786 (GRCm39) missense probably damaging 0.96
R5001:Arhgap33 UTSW 7 30,232,441 (GRCm39) missense possibly damaging 0.95
R5140:Arhgap33 UTSW 7 30,227,726 (GRCm39) missense probably damaging 1.00
R5585:Arhgap33 UTSW 7 30,223,260 (GRCm39) missense probably benign 0.00
R5704:Arhgap33 UTSW 7 30,219,045 (GRCm39) unclassified probably benign
R5805:Arhgap33 UTSW 7 30,225,839 (GRCm39) missense probably benign 0.01
R6476:Arhgap33 UTSW 7 30,223,837 (GRCm39) missense probably damaging 0.99
R6485:Arhgap33 UTSW 7 30,223,429 (GRCm39) missense probably benign
R6572:Arhgap33 UTSW 7 30,226,635 (GRCm39) missense probably damaging 1.00
R7183:Arhgap33 UTSW 7 30,225,296 (GRCm39) splice site probably null
R7205:Arhgap33 UTSW 7 30,232,434 (GRCm39) missense probably damaging 0.99
R7259:Arhgap33 UTSW 7 30,231,625 (GRCm39) missense probably damaging 1.00
R7319:Arhgap33 UTSW 7 30,225,794 (GRCm39) missense probably benign
R7384:Arhgap33 UTSW 7 30,226,696 (GRCm39) missense probably damaging 1.00
R7412:Arhgap33 UTSW 7 30,222,477 (GRCm39) missense probably benign 0.00
R7693:Arhgap33 UTSW 7 30,225,537 (GRCm39) critical splice donor site probably null
R7747:Arhgap33 UTSW 7 30,223,560 (GRCm39) missense probably damaging 0.98
R7893:Arhgap33 UTSW 7 30,228,201 (GRCm39) missense probably benign 0.34
R7915:Arhgap33 UTSW 7 30,222,648 (GRCm39) missense probably benign 0.08
R8819:Arhgap33 UTSW 7 30,228,165 (GRCm39) missense probably benign 0.09
R8820:Arhgap33 UTSW 7 30,228,165 (GRCm39) missense probably benign 0.09
R8912:Arhgap33 UTSW 7 30,232,467 (GRCm39) splice site probably benign
R8922:Arhgap33 UTSW 7 30,223,417 (GRCm39) missense probably damaging 0.99
R9211:Arhgap33 UTSW 7 30,223,023 (GRCm39) missense possibly damaging 0.94
R9616:Arhgap33 UTSW 7 30,229,367 (GRCm39) missense probably damaging 0.99
R9755:Arhgap33 UTSW 7 30,227,926 (GRCm39) missense possibly damaging 0.91
R9762:Arhgap33 UTSW 7 30,230,950 (GRCm39) missense probably null 1.00
X0034:Arhgap33 UTSW 7 30,223,874 (GRCm39) small deletion probably benign
Z1176:Arhgap33 UTSW 7 30,222,142 (GRCm39) missense probably benign 0.13
Z1177:Arhgap33 UTSW 7 30,222,242 (GRCm39) missense probably damaging 1.00
Z1186:Arhgap33 UTSW 7 30,223,904 (GRCm39) small insertion probably benign
Z1186:Arhgap33 UTSW 7 30,223,860 (GRCm39) missense probably benign
Z1186:Arhgap33 UTSW 7 30,223,076 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- AGCTGCTGGATGACGTCATG -3'
(R):5'- AAGGTTGCTGTATCCATCTGTG -3'

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