Incidental Mutation 'IGL02178:Arhgap23'
ID283196
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap23
Ensembl Gene ENSMUSG00000049807
Gene NameRho GTPase activating protein 23
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02178
Quality Score
Status
Chromosome11
Chromosomal Location97415533-97502402 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97452353 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 276 (D276G)
Ref Sequence ENSEMBL: ENSMUSP00000103227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107601] [ENSMUST00000121799] [ENSMUST00000142465]
Predicted Effect probably benign
Transcript: ENSMUST00000107601
AA Change: D276G

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103227
Gene: ENSMUSG00000049807
AA Change: D276G

DomainStartEndE-ValueType
low complexity region 246 258 N/A INTRINSIC
low complexity region 354 369 N/A INTRINSIC
low complexity region 426 443 N/A INTRINSIC
PH 479 600 3.2e-12 SMART
low complexity region 679 687 N/A INTRINSIC
RhoGAP 707 884 6.83e-65 SMART
low complexity region 1051 1066 N/A INTRINSIC
low complexity region 1101 1114 N/A INTRINSIC
low complexity region 1125 1146 N/A INTRINSIC
low complexity region 1176 1194 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121799
AA Change: D487G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807
AA Change: D487G

DomainStartEndE-ValueType
low complexity region 8 29 N/A INTRINSIC
PDZ 52 160 4.2e-17 SMART
low complexity region 457 469 N/A INTRINSIC
low complexity region 565 580 N/A INTRINSIC
low complexity region 637 654 N/A INTRINSIC
PH 690 811 3.2e-12 SMART
low complexity region 890 898 N/A INTRINSIC
RhoGAP 918 1095 6.83e-65 SMART
low complexity region 1262 1277 N/A INTRINSIC
low complexity region 1312 1325 N/A INTRINSIC
low complexity region 1336 1357 N/A INTRINSIC
low complexity region 1387 1405 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142465
SMART Domains Protein: ENSMUSP00000123191
Gene: ENSMUSG00000049807

DomainStartEndE-ValueType
low complexity region 54 69 N/A INTRINSIC
low complexity region 126 143 N/A INTRINSIC
PH 179 300 3.2e-12 SMART
low complexity region 379 387 N/A INTRINSIC
RhoGAP 407 584 6.83e-65 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,662,461 T516S possibly damaging Het
6820408C15Rik T C 2: 152,428,001 probably benign Het
Ak5 T C 3: 152,526,785 D331G probably benign Het
Ar A G X: 98,305,438 D675G probably damaging Het
Arhgef3 C T 14: 27,265,529 R40* probably null Het
Atp1b4 G T X: 38,332,818 R293L possibly damaging Het
Borcs8 T C 8: 70,165,247 L85P probably damaging Het
Carmil1 T G 13: 24,094,403 K194N probably damaging Het
Catsper4 T A 4: 134,227,326 K4N probably benign Het
Ccdc30 T C 4: 119,349,724 probably benign Het
Cd101 A G 3: 100,993,766 S997P probably damaging Het
Cdkl5 G A X: 160,816,893 T792I probably benign Het
Cep135 A G 5: 76,595,474 Y185C probably damaging Het
Clcn5 A G X: 7,186,324 Y59H possibly damaging Het
Col6a1 A T 10: 76,711,075 I771N unknown Het
Crispld1 C T 1: 17,762,103 probably benign Het
Fam109b T A 15: 82,343,326 D15E possibly damaging Het
Fbxl13 A G 5: 21,620,720 I128T possibly damaging Het
Gga1 T A 15: 78,892,047 M430K probably benign Het
Has2 A G 15: 56,682,060 Y49H probably damaging Het
Ivd A G 2: 118,871,434 I116V probably benign Het
Krt75 T C 15: 101,572,791 N183D probably benign Het
Map3k9 A T 12: 81,743,837 I314N probably damaging Het
Map6d1 T G 16: 20,236,698 E129D probably damaging Het
Mettl22 T C 16: 8,478,282 V145A probably benign Het
Muc5ac T A 7: 141,805,447 probably benign Het
Mycbp2 A G 14: 103,224,366 F1416L probably benign Het
Nlrc4 T C 17: 74,446,843 I182V probably damaging Het
Olfr1351 T C 10: 79,017,720 Y133H possibly damaging Het
Olfr1444 T A 19: 12,862,543 I256N possibly damaging Het
Phc3 T C 3: 30,929,863 T668A possibly damaging Het
Ppp2r2a T C 14: 67,023,097 Y244C probably damaging Het
Prkcq A C 2: 11,277,040 Y460S possibly damaging Het
Prmt8 T A 6: 127,697,807 E286V probably benign Het
Ptprb A T 10: 116,322,532 M503L probably benign Het
Ptprq A T 10: 107,686,319 D590E probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Rps6kc1 A T 1: 190,871,836 S196R possibly damaging Het
Ryr3 A G 2: 112,825,799 Y1951H probably benign Het
Sbno1 A T 5: 124,400,195 probably null Het
Sde2 T G 1: 180,851,231 L20R possibly damaging Het
Slco1a5 A T 6: 142,262,688 C81* probably null Het
Snx2 A G 18: 53,199,785 E177G possibly damaging Het
Spg11 A T 2: 122,097,302 V667D probably damaging Het
Tas2r115 T C 6: 132,737,308 T227A probably benign Het
Tmed9 A G 13: 55,593,295 H41R possibly damaging Het
Vmn1r35 T G 6: 66,679,102 S28R probably damaging Het
Vmn2r110 A C 17: 20,584,444 probably null Het
Vstm2l T C 2: 157,935,417 Y72H probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Zbtb4 A T 11: 69,776,429 R187* probably null Het
Zfp598 A G 17: 24,677,543 D198G probably damaging Het
Zp2 G T 7: 120,133,750 A629E possibly damaging Het
Other mutations in Arhgap23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Arhgap23 APN 11 97492671 intron probably benign
IGL00493:Arhgap23 APN 11 97446553 critical splice donor site probably null
IGL01729:Arhgap23 APN 11 97453961 missense probably damaging 1.00
IGL01805:Arhgap23 APN 11 97492602 intron probably benign
IGL02005:Arhgap23 APN 11 97491219 missense probably damaging 0.99
IGL02026:Arhgap23 APN 11 97451581 missense probably damaging 0.99
IGL02135:Arhgap23 APN 11 97451702 missense probably damaging 0.97
IGL02226:Arhgap23 APN 11 97451600 missense probably benign 0.07
IGL02309:Arhgap23 APN 11 97466001 splice site probably benign
IGL02399:Arhgap23 APN 11 97491005 intron probably benign
IGL02630:Arhgap23 APN 11 97454297 missense probably benign 0.24
IGL02724:Arhgap23 APN 11 97491179 missense probably damaging 0.99
IGL02740:Arhgap23 APN 11 97475017 missense probably damaging 1.00
IGL02746:Arhgap23 APN 11 97454204 splice site probably benign
IGL02862:Arhgap23 APN 11 97456480 missense probably damaging 1.00
IGL03380:Arhgap23 APN 11 97452518 missense probably damaging 1.00
R0091:Arhgap23 UTSW 11 97452244 missense probably benign 0.44
R0134:Arhgap23 UTSW 11 97444328 missense probably benign 0.09
R0225:Arhgap23 UTSW 11 97444328 missense probably benign 0.09
R0305:Arhgap23 UTSW 11 97501109 missense probably damaging 0.99
R0358:Arhgap23 UTSW 11 97463588 missense probably damaging 1.00
R0422:Arhgap23 UTSW 11 97463652 missense probably damaging 1.00
R0497:Arhgap23 UTSW 11 97452163 missense probably damaging 1.00
R0580:Arhgap23 UTSW 11 97446536 frame shift probably null
R0782:Arhgap23 UTSW 11 97500554 missense possibly damaging 0.73
R1216:Arhgap23 UTSW 11 97492672 intron probably benign
R1488:Arhgap23 UTSW 11 97500859 missense possibly damaging 0.53
R1785:Arhgap23 UTSW 11 97451561 missense possibly damaging 0.77
R1844:Arhgap23 UTSW 11 97463408 missense probably damaging 1.00
R1855:Arhgap23 UTSW 11 97448697 missense probably damaging 0.99
R1977:Arhgap23 UTSW 11 97451447 missense possibly damaging 0.95
R2064:Arhgap23 UTSW 11 97493062 missense probably benign 0.02
R2130:Arhgap23 UTSW 11 97451561 missense possibly damaging 0.77
R2431:Arhgap23 UTSW 11 97452404 missense probably benign
R2853:Arhgap23 UTSW 11 97492594 splice site probably null
R3767:Arhgap23 UTSW 11 97476106 missense probably damaging 1.00
R3768:Arhgap23 UTSW 11 97476106 missense probably damaging 1.00
R3769:Arhgap23 UTSW 11 97476106 missense probably damaging 1.00
R3770:Arhgap23 UTSW 11 97476106 missense probably damaging 1.00
R4209:Arhgap23 UTSW 11 97454496 missense probably damaging 0.99
R4247:Arhgap23 UTSW 11 97463699 missense probably damaging 1.00
R4997:Arhgap23 UTSW 11 97452020 missense probably damaging 0.98
R5399:Arhgap23 UTSW 11 97500917 missense probably damaging 0.97
R5549:Arhgap23 UTSW 11 97466568 missense probably damaging 0.96
R5655:Arhgap23 UTSW 11 97452546 critical splice donor site probably null
R5857:Arhgap23 UTSW 11 97451579 missense possibly damaging 0.93
R6013:Arhgap23 UTSW 11 97500992 missense probably damaging 0.99
R6031:Arhgap23 UTSW 11 97476139 missense probably damaging 1.00
R6031:Arhgap23 UTSW 11 97476139 missense probably damaging 1.00
R6077:Arhgap23 UTSW 11 97491232 critical splice donor site probably null
R6151:Arhgap23 UTSW 11 97500412 missense probably benign 0.01
R6393:Arhgap23 UTSW 11 97463672 missense probably damaging 0.98
R6693:Arhgap23 UTSW 11 97466517 missense probably damaging 1.00
R6752:Arhgap23 UTSW 11 97452248 missense probably damaging 0.98
R7202:Arhgap23 UTSW 11 97451993 missense possibly damaging 0.65
R7209:Arhgap23 UTSW 11 97476085 missense probably damaging 1.00
R7320:Arhgap23 UTSW 11 97451545 missense probably benign 0.10
R7345:Arhgap23 UTSW 11 97466478 missense possibly damaging 0.91
R7599:Arhgap23 UTSW 11 97500343 missense probably benign
RF020:Arhgap23 UTSW 11 97463561 missense probably damaging 1.00
V8831:Arhgap23 UTSW 11 97456545 missense probably benign 0.00
Posted On2015-04-16