Incidental Mutation 'R6476:Arhgap33'
ID 516784
Institutional Source Beutler Lab
Gene Symbol Arhgap33
Ensembl Gene ENSMUSG00000036882
Gene Name Rho GTPase activating protein 33
Synonyms Snx26, Tcgap, NOMA-GAP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R6476 (G1)
Quality Score 194.009
Status Not validated
Chromosome 7
Chromosomal Location 30221651-30234485 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30223837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 731 (S731P)
Ref Sequence ENSEMBL: ENSMUSP00000146767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044338] [ENSMUST00000207858] [ENSMUST00000207860] [ENSMUST00000208522] [ENSMUST00000208538]
AlphaFold Q80YF9
Predicted Effect probably damaging
Transcript: ENSMUST00000044338
AA Change: S731P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038412
Gene: ENSMUSG00000036882
AA Change: S731P

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 noncoding transcript
Transcript: ENSMUST00000124276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207637
Predicted Effect probably damaging
Transcript: ENSMUST00000207858
AA Change: S707P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000207860
AA Change: S731P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect silent
Transcript: ENSMUST00000208522
Predicted Effect probably damaging
Transcript: ENSMUST00000208538
AA Change: S731P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a T C 2: 154,892,699 (GRCm39) V126A probably benign Het
Adamts20 T C 15: 94,259,691 (GRCm39) Q336R probably benign Het
Ankrd36 A G 11: 5,578,753 (GRCm39) T6A probably benign Het
Arhgef10l G C 4: 140,338,693 (GRCm39) P23R probably damaging Het
Atf7 T C 15: 102,502,147 (GRCm39) D3G probably benign Het
Caps2 A G 10: 112,011,465 (GRCm39) T30A possibly damaging Het
Ccdc15 A T 9: 37,253,715 (GRCm39) I191N probably benign Het
Cep170 A T 1: 176,607,917 (GRCm39) S180T possibly damaging Het
Chd1 G A 17: 17,601,250 (GRCm39) probably null Het
Col6a3 A T 1: 90,709,534 (GRCm39) N1887K unknown Het
Csgalnact1 C T 8: 68,913,761 (GRCm39) S148N probably damaging Het
Csgalnact1 T A 8: 68,913,762 (GRCm39) S148C probably damaging Het
Dnah14 A G 1: 181,572,333 (GRCm39) E2888G probably benign Het
Dnah7b T A 1: 46,281,364 (GRCm39) Y2808* probably null Het
Dock10 A C 1: 80,518,959 (GRCm39) L1254* probably null Het
Eml2 T C 7: 18,930,236 (GRCm39) V511A probably benign Het
Eml6 A G 11: 29,741,971 (GRCm39) probably null Het
Erbin C A 13: 103,977,755 (GRCm39) D601Y probably damaging Het
Farsa A G 8: 85,583,809 (GRCm39) E49G probably damaging Het
Fzd7 A G 1: 59,523,154 (GRCm39) M346V probably damaging Het
Gatd3a T C 10: 78,003,347 (GRCm39) N102D probably damaging Het
Glg1 A C 8: 111,926,806 (GRCm39) S170A possibly damaging Het
Gpx3 A T 11: 54,798,025 (GRCm39) I54F probably damaging Het
H6pd G A 4: 150,067,184 (GRCm39) H401Y probably damaging Het
Hspb8 A G 5: 116,560,457 (GRCm39) S28P probably damaging Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Krt9 A T 11: 100,081,640 (GRCm39) D296E probably damaging Het
Lcor C T 19: 41,571,518 (GRCm39) T237I probably benign Het
Lnx1 A G 5: 74,768,541 (GRCm39) V349A possibly damaging Het
Map3k6 A T 4: 132,977,397 (GRCm39) S915C probably damaging Het
Mecom C A 3: 30,034,717 (GRCm39) A510S possibly damaging Het
Mettl14 A G 3: 123,167,686 (GRCm39) I224T probably damaging Het
Mme T C 3: 63,251,056 (GRCm39) probably null Het
Nbea T A 3: 55,912,227 (GRCm39) T1187S probably benign Het
Ndor1 T C 2: 25,138,154 (GRCm39) T444A possibly damaging Het
Nhlrc1 A G 13: 47,167,657 (GRCm39) L200P possibly damaging Het
Npc1 G T 18: 12,334,751 (GRCm39) S667* probably null Het
Nscme3l A C 19: 5,553,253 (GRCm39) I176S probably damaging Het
Or14a256 C T 7: 86,265,218 (GRCm39) V212I probably benign Het
Or1l8 T A 2: 36,817,595 (GRCm39) H177L possibly damaging Het
Or4c109 T A 2: 88,817,721 (GRCm39) D275V probably benign Het
Or51d1 T A 7: 102,348,310 (GRCm39) N288K possibly damaging Het
Or5g9 T A 2: 85,551,928 (GRCm39) Y60N probably damaging Het
Pds5a A C 5: 65,791,630 (GRCm39) I773R possibly damaging Het
Pgr T A 9: 8,964,839 (GRCm39) probably null Het
Plscr4 A T 9: 92,372,819 (GRCm39) M314L probably benign Het
Polr2m A G 9: 71,390,752 (GRCm39) V46A probably benign Het
Ptk2b T A 14: 66,424,923 (GRCm39) M174L possibly damaging Het
Sec31a A T 5: 100,534,008 (GRCm39) F521I probably benign Het
Serpinb3d T C 1: 107,011,071 (GRCm39) N47S probably benign Het
Shld2 T C 14: 33,989,971 (GRCm39) S312G probably benign Het
Slc24a3 T A 2: 145,448,750 (GRCm39) D431E probably benign Het
Slc34a1 C A 13: 23,996,569 (GRCm39) H25N probably damaging Het
Slc9a9 T C 9: 94,567,191 (GRCm39) F87L probably benign Het
Spata31 T A 13: 65,065,456 (GRCm39) S54T possibly damaging Het
Spata6 T C 4: 111,632,020 (GRCm39) S144P probably damaging Het
Sppl2c A G 11: 104,077,595 (GRCm39) N132D probably benign Het
Ssu2 C T 6: 112,351,793 (GRCm39) G311S probably damaging Het
Syne1 T A 10: 5,104,531 (GRCm39) Q6328L possibly damaging Het
Tie1 T C 4: 118,330,062 (GRCm39) T1054A possibly damaging Het
Tnfaip6 T G 2: 51,942,328 (GRCm39) D212E probably benign Het
Tnxb A G 17: 34,909,166 (GRCm39) T1442A probably damaging Het
Trim35 C T 14: 66,546,244 (GRCm39) T337M probably damaging Het
Vipr1 T C 9: 121,498,489 (GRCm39) V413A probably benign Het
Vmn1r19 C G 6: 57,381,578 (GRCm39) Q44E probably damaging Het
Zfp1002 T C 2: 150,097,246 (GRCm39) D61G probably benign Het
Zfp266 G T 9: 20,410,577 (GRCm39) H533Q probably damaging Het
Zfp689 T C 7: 127,043,896 (GRCm39) S245G probably 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
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
R7241:Arhgap33 UTSW 7 30,228,146 (GRCm39) missense probably damaging 1.00
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'- TGAAGCAGGCTTAGTGGGTC -3'
(R):5'- AGGTTCTGATCTCTAACTGTAACC -3'

Sequencing Primer
(F):5'- TCCATGGGGTGACAGAGC -3'
(R):5'- TGTAACCCTCTCCCAACAGG -3'
Posted On 2018-05-21