Incidental Mutation 'R8460:Arhgap23'
ID 655230
Institutional Source Beutler Lab
Gene Symbol Arhgap23
Ensembl Gene ENSMUSG00000049807
Gene Name Rho GTPase activating protein 23
Synonyms
MMRRC Submission 067905-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8460 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 97306359-97393228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97343197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 493 (V493D)
Ref Sequence ENSEMBL: ENSMUSP00000112999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107601] [ENSMUST00000121799] [ENSMUST00000142465]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000107601
AA Change: V282D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103227
Gene: ENSMUSG00000049807
AA Change: V282D

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 damaging
Transcript: ENSMUST00000121799
AA Change: V493D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807
AA Change: V493D

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G T 17: 48,400,849 (GRCm39) E45* probably null Het
6030458C11Rik T C 15: 12,818,545 (GRCm39) probably benign Het
Abcb11 T C 2: 69,154,381 (GRCm39) M62V possibly damaging Het
Adgrf5 C A 17: 43,750,699 (GRCm39) probably benign Het
Atg9b T C 5: 24,591,966 (GRCm39) K678E probably damaging Het
Catsperg2 T C 7: 29,404,744 (GRCm39) D773G possibly damaging Het
Cd180 T C 13: 102,839,354 (GRCm39) L79P probably damaging Het
Celsr2 C T 3: 108,304,093 (GRCm39) S2350N possibly damaging Het
Cep85l C A 10: 53,225,313 (GRCm39) R92L probably benign Het
Cyp21a1 T C 17: 35,021,844 (GRCm39) D241G probably benign Het
Dock2 C A 11: 34,180,825 (GRCm39) probably null Het
Fam163a A G 1: 155,955,712 (GRCm39) Y27H probably damaging Het
Gmnc G A 16: 26,779,204 (GRCm39) L274F probably benign Het
Gpc2 A T 5: 138,274,891 (GRCm39) C283S probably damaging Het
Grm5 A G 7: 87,252,249 (GRCm39) I166M probably damaging Het
Ighv3-1 A T 12: 113,928,056 (GRCm39) L101* probably null Het
Impact C T 18: 13,109,564 (GRCm39) S86L probably benign Het
Kif1b C T 4: 149,272,077 (GRCm39) V1575I possibly damaging Het
Klhl6 A G 16: 19,775,781 (GRCm39) V259A probably damaging Het
Krt81 G T 15: 101,361,493 (GRCm39) A29E probably damaging Het
Ldah A G 12: 8,318,548 (GRCm39) N219S probably benign Het
Map3k12 C T 15: 102,410,032 (GRCm39) R581Q probably damaging Het
Marveld3 T C 8: 110,681,040 (GRCm39) D285G probably benign Het
Mcpt2 A G 14: 56,281,201 (GRCm39) D135G possibly damaging Het
Megf6 T A 4: 154,350,634 (GRCm39) C1048* probably null Het
Megf9 A T 4: 70,374,208 (GRCm39) V276D probably damaging Het
Nfya T C 17: 48,698,974 (GRCm39) H273R possibly damaging Het
Olah T A 2: 3,362,762 (GRCm39) Q21H probably damaging Het
Or10s1 T C 9: 39,986,353 (GRCm39) L254P probably damaging Het
Or51t4 T A 7: 102,598,531 (GRCm39) C286* probably null Het
Or7g21 T C 9: 19,032,988 (GRCm39) S243P probably damaging Het
Or8b47 A T 9: 38,427,926 (GRCm39) probably benign Het
Or8k23 T G 2: 86,186,198 (GRCm39) H176P probably damaging Het
Or9s23 T A 1: 92,501,268 (GRCm39) M125K probably damaging Het
Pcdhgb6 T A 18: 37,877,278 (GRCm39) L662Q possibly damaging Het
Pou4f3 T C 18: 42,529,053 (GRCm39) M332T probably damaging Het
Pramel19 C T 4: 101,798,424 (GRCm39) P132S probably benign Het
Pramel58 T A 5: 94,831,790 (GRCm39) C266S probably benign Het
Prg4 G A 1: 150,331,692 (GRCm39) S327L possibly damaging Het
Rdh5 C T 10: 128,754,136 (GRCm39) R99H probably benign Het
Setd1a T C 7: 127,383,292 (GRCm39) F263L unknown Het
Setd2 A G 9: 110,423,338 (GRCm39) N353S Het
Sh3gl1 T C 17: 56,326,321 (GRCm39) N109S probably benign Het
Sidt1 A T 16: 44,107,705 (GRCm39) Y188* probably null Het
Slc25a13 A T 6: 6,073,513 (GRCm39) N448K probably damaging Het
Slc44a5 G A 3: 153,975,667 (GRCm39) V693M probably benign Het
Smad7 T C 18: 75,503,968 (GRCm39) S206P probably damaging Het
Snx33 T A 9: 56,833,476 (GRCm39) I198F possibly damaging Het
Vps13d A T 4: 144,897,009 (GRCm39) probably benign Het
Vps33b T C 7: 79,937,617 (GRCm39) V455A probably benign Het
Zdbf2 CGCTCCGTGCCCCCCGCGCGCCCCGTGCCTCCCACGCGCCCCGTGCCTCCCGCAGGCTCCGTGCCCCCCGCG CGCTCCGTGCCCCCCGCG 1: 63,348,729 (GRCm39) probably benign Het
Zfp26 A T 9: 20,348,373 (GRCm39) H730Q probably damaging 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
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
R9188:Arhgap23 UTSW 11 97,390,983 (GRCm39) missense possibly damaging 0.72
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'- TATAGCCCATCATTCCAGCGC -3'
(R):5'- TAGCCAGCCACTTGTAACAC -3'

Sequencing Primer
(F):5'- ATCATTCCAGCGCCGGACTG -3'
(R):5'- TTGTAACACCACTCACCAATAAAGGG -3'
Posted On 2020-10-20