Incidental Mutation 'R4209:Arhgap23'
ID 319085
Institutional Source Beutler Lab
Gene Symbol Arhgap23
Ensembl Gene ENSMUSG00000049807
Gene Name Rho GTPase activating protein 23
Synonyms
MMRRC Submission 041038-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4209 (G1)
Quality Score 144
Status Validated
Chromosome 11
Chromosomal Location 97306359-97393228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 97345322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 657 (T657K)
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: T446K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103227
Gene: ENSMUSG00000049807
AA Change: T446K

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: T657K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807
AA Change: T657K

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 possibly damaging
Transcript: ENSMUST00000142465
AA Change: T146K

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123191
Gene: ENSMUSG00000049807
AA Change: T146K

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (45/46)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 A T 3: 59,784,577 (GRCm39) Y350F probably damaging Het
Ahnak G A 19: 8,979,964 (GRCm39) G416D probably damaging Het
Ap3b2 C A 7: 81,126,884 (GRCm39) A289S probably benign Het
Bcl9 A G 3: 97,117,269 (GRCm39) L475P probably damaging Het
Bean1 T A 8: 104,940,566 (GRCm39) M1K probably null Het
Cand1 T A 10: 119,047,463 (GRCm39) I676F probably benign Het
Casp3 G T 8: 47,088,423 (GRCm39) D107Y probably damaging Het
Cops4 T A 5: 100,695,352 (GRCm39) probably benign Het
Dchs1 A T 7: 105,415,397 (GRCm39) D626E probably damaging Het
Dpysl2 T C 14: 67,052,926 (GRCm39) S308G probably damaging Het
Fezf1 T C 6: 23,246,616 (GRCm39) K323E probably damaging Het
Gm10272 T C 10: 77,542,665 (GRCm39) V69A possibly damaging Het
Gtf2f1 A G 17: 57,318,003 (GRCm39) V11A probably benign Het
Hnf4a T C 2: 163,410,809 (GRCm39) S378P probably benign Het
Inpp5j T G 11: 3,451,107 (GRCm39) H514P probably damaging Het
Irf8 T A 8: 121,480,208 (GRCm39) Y149N probably damaging Het
Kel C T 6: 41,675,359 (GRCm39) W297* probably null Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mcpt8 G A 14: 56,321,375 (GRCm39) H30Y probably damaging Het
Mycl G T 4: 122,893,715 (GRCm39) V172L possibly damaging Het
Pcgf5 C A 19: 36,414,740 (GRCm39) N26K possibly damaging Het
Ppp2r2a A G 14: 67,266,328 (GRCm39) L111S probably damaging Het
Prdm2 T C 4: 142,861,007 (GRCm39) D761G probably damaging Het
Sec11a A T 7: 80,584,790 (GRCm39) I49N probably damaging Het
Sesn3 T C 9: 14,217,505 (GRCm39) I30T probably benign Het
Slc22a21 A G 11: 53,846,881 (GRCm39) S331P probably benign Het
Slc38a3 T G 9: 107,532,547 (GRCm39) S358R possibly damaging Het
Slc9a5 A G 8: 106,085,103 (GRCm39) N535D possibly damaging Het
Spns2 T C 11: 72,345,012 (GRCm39) D492G probably benign Het
Tcn2 T C 11: 3,872,114 (GRCm39) K338E possibly damaging Het
Tdp1 C A 12: 99,864,588 (GRCm39) A243E probably damaging Het
Tex16 T A X: 111,030,640 (GRCm39) D1046E probably benign Het
Tmem120a T C 5: 135,764,559 (GRCm39) N340S probably benign Het
Tnik A T 3: 28,413,214 (GRCm39) probably benign Het
Trim36 A G 18: 46,329,191 (GRCm39) L71P probably benign Het
Tube1 A G 10: 39,020,930 (GRCm39) probably null Het
Urgcp C A 11: 5,665,878 (GRCm39) G820V probably damaging Het
Veph1 A T 3: 66,151,967 (GRCm39) L154Q probably damaging Het
Vmn1r113 T C 7: 20,521,535 (GRCm39) V109A probably benign Het
Vmn1r152 A T 7: 22,223,004 (GRCm39) T205S possibly damaging Het
Wdsub1 G A 2: 59,707,149 (GRCm39) P28S probably damaging Het
Ybx2 G T 11: 69,826,767 (GRCm39) probably benign Het
Zfyve1 A T 12: 83,621,909 (GRCm39) V162E 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
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
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'- ATGGACTGAACACCTTCCG -3'
(R):5'- AGATGTGTAGGGCTACCACC -3'

Sequencing Primer
(F):5'- ACTGAACACCTTCCGGGATGAG -3'
(R):5'- CCTTCTAGAGGCAGACAGACAG -3'
Posted On 2015-06-10