Incidental Mutation 'R9188:Arhgap23'
ID 697540
Institutional Source Beutler Lab
Gene Symbol Arhgap23
Ensembl Gene ENSMUSG00000049807
Gene Name Rho GTPase activating protein 23
Synonyms
MMRRC Submission 068980-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9188 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 97306359-97393228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97390983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 4 (I4V)
Ref Sequence ENSEMBL: ENSMUSP00000091472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056955] [ENSMUST00000093940] [ENSMUST00000107601] [ENSMUST00000121799] [ENSMUST00000142465]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000056955
SMART Domains Protein: ENSMUSP00000060323
Gene: ENSMUSG00000047988

DomainStartEndE-ValueType
low complexity region 77 100 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000093940
AA Change: I4V

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000091472
Gene: ENSMUSG00000049807
AA Change: I4V

DomainStartEndE-ValueType
Blast:RhoGAP 72 123 3e-6 BLAST
low complexity region 149 162 N/A INTRINSIC
low complexity region 173 194 N/A INTRINSIC
low complexity region 224 242 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107601
AA Change: I956V

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103227
Gene: ENSMUSG00000049807
AA Change: I956V

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 possibly damaging
Transcript: ENSMUST00000121799
AA Change: I1167V

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807
AA Change: I1167V

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (71/71)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik G T 6: 83,139,230 (GRCm39) R385L probably benign Het
Abca8b A T 11: 109,872,561 (GRCm39) C13* probably null Het
Actc1 T C 2: 113,880,979 (GRCm39) D82G probably damaging Het
Adamts1 G A 16: 85,599,571 (GRCm39) R10C probably damaging Het
Ankle2 G A 5: 110,400,610 (GRCm39) V649M possibly damaging Het
Asic2 A G 11: 81,042,738 (GRCm39) F185S probably benign Het
Asmt G A X: 169,111,583 (GRCm39) E322K probably damaging Het
Caprin2 T C 6: 148,767,422 (GRCm39) D512G probably benign Het
Cltc A C 11: 86,627,992 (GRCm39) I52S probably damaging Het
Cntn2 A G 1: 132,443,276 (GRCm39) L1040P probably damaging Het
Col12a1 T C 9: 79,509,614 (GRCm39) T3019A probably benign Het
Crisp4 A T 1: 18,192,990 (GRCm39) C242* probably null Het
Crocc G T 4: 140,747,151 (GRCm39) N1716K probably benign Het
Cstf3 A G 2: 104,439,223 (GRCm39) E12G possibly damaging Het
Dnai4 T C 4: 102,939,332 (GRCm39) T77A Het
Drc3 G T 11: 60,249,615 (GRCm39) V45F probably damaging Het
Etv4 A G 11: 101,666,202 (GRCm39) S108P probably damaging Het
Exosc10 T A 4: 148,643,017 (GRCm39) D31E probably damaging Het
F11 A T 8: 45,698,736 (GRCm39) D469E probably benign Het
Fzd7 A G 1: 59,523,797 (GRCm39) H560R probably benign Het
Gabrp A G 11: 33,517,252 (GRCm39) I140T possibly damaging Het
Get1 A G 16: 95,955,363 (GRCm39) D140G probably benign Het
Gna15 T C 10: 81,343,798 (GRCm39) T288A probably benign Het
Gucy2c T C 6: 136,700,756 (GRCm39) D586G probably benign Het
H2-D1 T C 17: 35,484,778 (GRCm39) V213A probably damaging Het
Hsd3b1 A T 3: 98,760,216 (GRCm39) D258E probably damaging Het
Ier3 G T 17: 36,132,779 (GRCm39) G57W probably damaging Het
Ifnlr1 T A 4: 135,426,171 (GRCm39) C85S probably damaging Het
Ivd G T 2: 118,710,942 (GRCm39) G384C probably damaging Het
Iws1 G A 18: 32,213,213 (GRCm39) E214K possibly damaging Het
Jak2 A C 19: 29,288,353 (GRCm39) D1068A probably damaging Het
Klk4 T C 7: 43,534,797 (GRCm39) I252T probably damaging Het
Klra17 A T 6: 129,808,523 (GRCm39) C237S probably damaging Het
Krtap1-3 T C 11: 99,481,887 (GRCm39) T87A unknown Het
Lbhd1 A T 19: 8,864,397 (GRCm39) probably null Het
Lrig3 A G 10: 125,838,935 (GRCm39) R481G possibly damaging Het
Lrrc1 T C 9: 77,362,487 (GRCm39) Y247C probably benign Het
Marchf1 T A 8: 66,908,803 (GRCm39) Y174* probably null Het
Mlxip A T 5: 123,583,642 (GRCm39) T402S probably benign Het
Mmd2 T C 5: 142,560,957 (GRCm39) K93E probably damaging Het
Mmp27 A G 9: 7,579,792 (GRCm39) D422G possibly damaging Het
Mroh7 T C 4: 106,566,789 (GRCm39) I487V probably benign Het
Nectin2 A G 7: 19,453,119 (GRCm39) probably null Het
Nfkbia A T 12: 55,537,258 (GRCm39) L277H probably damaging Het
Or4n5 T C 14: 50,132,366 (GRCm39) M298V probably benign Het
Or52r1 T A 7: 102,536,596 (GRCm39) I255F possibly damaging Het
Otof C T 5: 30,534,095 (GRCm39) V1410M probably damaging Het
Pcdhb11 A G 18: 37,556,188 (GRCm39) N506S probably damaging Het
Pik3c2g A C 6: 139,599,401 (GRCm39) E172D possibly damaging Het
Plch1 T C 3: 63,639,075 (GRCm39) D466G probably null Het
Plekha6 C T 1: 133,220,171 (GRCm39) R955W probably damaging Het
Ppm1d T A 11: 85,236,747 (GRCm39) S509T possibly damaging Het
Prmt7 A G 8: 106,961,486 (GRCm39) D133G probably damaging Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Rfx6 A G 10: 51,594,263 (GRCm39) I394M probably benign Het
Rgl1 G T 1: 152,394,922 (GRCm39) N715K probably damaging Het
Rnf212 G T 5: 108,922,811 (GRCm39) S13* probably null Het
Rpgrip1l T C 8: 92,031,638 (GRCm39) T80A probably damaging Het
Rsl1 G T 13: 67,330,185 (GRCm39) S211I probably benign Het
Serpinb9d A G 13: 33,386,843 (GRCm39) M304V probably damaging Het
Sh3rf1 G T 8: 61,814,807 (GRCm39) probably null Het
Snx16 C A 3: 10,485,835 (GRCm39) K261N possibly damaging Het
Srebf2 G A 15: 82,066,357 (GRCm39) R635Q probably benign Het
Styxl1 T C 5: 135,794,672 (GRCm39) probably null Het
Tarbp2 A G 15: 102,430,946 (GRCm39) D233G probably benign Het
Tenm4 A T 7: 96,421,234 (GRCm39) N633Y probably damaging Het
Tgs1 T C 4: 3,585,693 (GRCm39) L190P probably benign Het
Tmem87a C T 2: 120,233,244 (GRCm39) G55D probably benign Het
Ttn A T 2: 76,733,468 (GRCm39) Y4602* probably null Het
Unc5b A T 10: 60,609,550 (GRCm39) L582Q probably damaging Het
Wdpcp A G 11: 21,610,025 (GRCm39) D31G probably damaging Het
Zbtb32 C T 7: 30,291,320 (GRCm39) probably benign Het
Zfp936 C T 7: 42,839,768 (GRCm39) L412F probably benign Het
Other mutations in Arhgap23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Arhgap23 APN 11 97,383,497 (GRCm39) intron probably benign
IGL00493:Arhgap23 APN 11 97,337,379 (GRCm39) critical splice donor site probably null
IGL01729:Arhgap23 APN 11 97,344,787 (GRCm39) missense probably damaging 1.00
IGL01805:Arhgap23 APN 11 97,383,428 (GRCm39) intron probably benign
IGL02005:Arhgap23 APN 11 97,382,045 (GRCm39) missense probably damaging 0.99
IGL02026:Arhgap23 APN 11 97,342,407 (GRCm39) missense probably damaging 0.99
IGL02135:Arhgap23 APN 11 97,342,528 (GRCm39) missense probably damaging 0.97
IGL02178:Arhgap23 APN 11 97,343,179 (GRCm39) missense probably benign 0.42
IGL02226:Arhgap23 APN 11 97,342,426 (GRCm39) missense probably benign 0.07
IGL02309:Arhgap23 APN 11 97,356,827 (GRCm39) splice site probably benign
IGL02399:Arhgap23 APN 11 97,381,831 (GRCm39) intron probably benign
IGL02630:Arhgap23 APN 11 97,345,123 (GRCm39) missense probably benign 0.24
IGL02724:Arhgap23 APN 11 97,382,005 (GRCm39) missense probably damaging 0.99
IGL02740:Arhgap23 APN 11 97,365,843 (GRCm39) missense probably damaging 1.00
IGL02746:Arhgap23 APN 11 97,345,030 (GRCm39) splice site probably benign
IGL02862:Arhgap23 APN 11 97,347,306 (GRCm39) missense probably damaging 1.00
IGL03380:Arhgap23 APN 11 97,343,344 (GRCm39) missense probably damaging 1.00
R0091:Arhgap23 UTSW 11 97,343,070 (GRCm39) missense probably benign 0.44
R0134:Arhgap23 UTSW 11 97,335,154 (GRCm39) missense probably benign 0.09
R0225:Arhgap23 UTSW 11 97,335,154 (GRCm39) missense probably benign 0.09
R0305:Arhgap23 UTSW 11 97,391,935 (GRCm39) missense probably damaging 0.99
R0358:Arhgap23 UTSW 11 97,354,414 (GRCm39) missense probably damaging 1.00
R0422:Arhgap23 UTSW 11 97,354,478 (GRCm39) missense probably damaging 1.00
R0497:Arhgap23 UTSW 11 97,342,989 (GRCm39) missense probably damaging 1.00
R0580:Arhgap23 UTSW 11 97,337,362 (GRCm39) frame shift probably null
R0782:Arhgap23 UTSW 11 97,391,380 (GRCm39) missense possibly damaging 0.73
R1216:Arhgap23 UTSW 11 97,383,498 (GRCm39) intron probably benign
R1488:Arhgap23 UTSW 11 97,391,685 (GRCm39) missense possibly damaging 0.53
R1785:Arhgap23 UTSW 11 97,342,387 (GRCm39) missense possibly damaging 0.77
R1844:Arhgap23 UTSW 11 97,354,234 (GRCm39) missense probably damaging 1.00
R1855:Arhgap23 UTSW 11 97,339,523 (GRCm39) missense probably damaging 0.99
R1977:Arhgap23 UTSW 11 97,342,273 (GRCm39) missense possibly damaging 0.95
R2064:Arhgap23 UTSW 11 97,383,888 (GRCm39) missense probably benign 0.02
R2130:Arhgap23 UTSW 11 97,342,387 (GRCm39) missense possibly damaging 0.77
R2431:Arhgap23 UTSW 11 97,343,230 (GRCm39) missense probably benign
R2853:Arhgap23 UTSW 11 97,383,420 (GRCm39) splice site probably null
R3767:Arhgap23 UTSW 11 97,366,932 (GRCm39) missense probably damaging 1.00
R3768:Arhgap23 UTSW 11 97,366,932 (GRCm39) missense probably damaging 1.00
R3769:Arhgap23 UTSW 11 97,366,932 (GRCm39) missense probably damaging 1.00
R3770:Arhgap23 UTSW 11 97,366,932 (GRCm39) missense probably damaging 1.00
R4209:Arhgap23 UTSW 11 97,345,322 (GRCm39) missense probably damaging 0.99
R4247:Arhgap23 UTSW 11 97,354,525 (GRCm39) missense probably damaging 1.00
R4997:Arhgap23 UTSW 11 97,342,846 (GRCm39) missense probably damaging 0.98
R5399:Arhgap23 UTSW 11 97,391,743 (GRCm39) missense probably damaging 0.97
R5549:Arhgap23 UTSW 11 97,357,394 (GRCm39) missense probably damaging 0.96
R5655:Arhgap23 UTSW 11 97,343,372 (GRCm39) critical splice donor site probably null
R5857:Arhgap23 UTSW 11 97,342,405 (GRCm39) missense possibly damaging 0.93
R6013:Arhgap23 UTSW 11 97,391,818 (GRCm39) missense probably damaging 0.99
R6031:Arhgap23 UTSW 11 97,366,965 (GRCm39) missense probably damaging 1.00
R6031:Arhgap23 UTSW 11 97,366,965 (GRCm39) missense probably damaging 1.00
R6077:Arhgap23 UTSW 11 97,382,058 (GRCm39) critical splice donor site probably null
R6151:Arhgap23 UTSW 11 97,391,238 (GRCm39) missense probably benign 0.01
R6393:Arhgap23 UTSW 11 97,354,498 (GRCm39) missense probably damaging 0.98
R6693:Arhgap23 UTSW 11 97,357,343 (GRCm39) missense probably damaging 1.00
R6752:Arhgap23 UTSW 11 97,343,074 (GRCm39) missense probably damaging 0.98
R7202:Arhgap23 UTSW 11 97,342,819 (GRCm39) missense possibly damaging 0.65
R7209:Arhgap23 UTSW 11 97,383,273 (GRCm39) splice site probably null
R7209:Arhgap23 UTSW 11 97,366,911 (GRCm39) missense probably damaging 1.00
R7320:Arhgap23 UTSW 11 97,342,371 (GRCm39) missense probably benign 0.10
R7345:Arhgap23 UTSW 11 97,357,304 (GRCm39) missense possibly damaging 0.91
R7599:Arhgap23 UTSW 11 97,391,169 (GRCm39) missense probably benign
R8229:Arhgap23 UTSW 11 97,344,732 (GRCm39) missense probably benign 0.36
R8332:Arhgap23 UTSW 11 97,381,960 (GRCm39) missense unknown
R8412:Arhgap23 UTSW 11 97,356,854 (GRCm39) missense probably benign 0.02
R8460:Arhgap23 UTSW 11 97,343,197 (GRCm39) missense probably damaging 1.00
R8492:Arhgap23 UTSW 11 97,365,847 (GRCm39) missense probably damaging 1.00
R8525:Arhgap23 UTSW 11 97,380,910 (GRCm39) missense probably damaging 1.00
R8692:Arhgap23 UTSW 11 97,345,322 (GRCm39) missense probably damaging 0.99
R8708:Arhgap23 UTSW 11 97,343,238 (GRCm39) missense probably benign 0.06
R8749:Arhgap23 UTSW 11 97,391,641 (GRCm39) missense probably damaging 0.99
R8882:Arhgap23 UTSW 11 97,355,949 (GRCm39) missense probably benign 0.00
RF020:Arhgap23 UTSW 11 97,354,387 (GRCm39) missense probably damaging 1.00
V8831:Arhgap23 UTSW 11 97,347,371 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAACCGTGTGCGTGGGAAAC -3'
(R):5'- TCGCATGGCATGAGATGGTG -3'

Sequencing Primer
(F):5'- AACATGCTGGTGTGGGCAC -3'
(R):5'- ACACGCTACGGTCCATGGTG -3'
Posted On 2022-02-07