Incidental Mutation 'R1123:Arhgap12'
ID 95904
Institutional Source Beutler Lab
Gene Symbol Arhgap12
Ensembl Gene ENSMUSG00000041225
Gene Name Rho GTPase activating protein 12
Synonyms 2810011M08Rik
MMRRC Submission 039196-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1123 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 6024448-6136102 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 6031822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 573 (V573G)
Ref Sequence ENSEMBL: ENSMUSP00000138444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062584] [ENSMUST00000077128] [ENSMUST00000182066] [ENSMUST00000182213] [ENSMUST00000182383] [ENSMUST00000182559]
AlphaFold Q8C0D4
Predicted Effect probably damaging
Transcript: ENSMUST00000062584
AA Change: V603G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054209
Gene: ENSMUSG00000041225
AA Change: V603G

DomainStartEndE-ValueType
SH3 13 71 1.53e-3 SMART
low complexity region 208 224 N/A INTRINSIC
WW 264 296 3.39e-6 SMART
WW 356 388 1.06e1 SMART
PH 456 569 9.56e-11 SMART
low complexity region 571 580 N/A INTRINSIC
low complexity region 588 602 N/A INTRINSIC
low complexity region 616 627 N/A INTRINSIC
RhoGAP 659 833 5.47e-64 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000077128
AA Change: V620G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076376
Gene: ENSMUSG00000041225
AA Change: V620G

DomainStartEndE-ValueType
SH3 13 71 1.53e-3 SMART
low complexity region 208 224 N/A INTRINSIC
WW 264 296 3.39e-6 SMART
WW 356 388 1.06e1 SMART
PH 431 544 9.56e-11 SMART
low complexity region 546 555 N/A INTRINSIC
low complexity region 563 577 N/A INTRINSIC
low complexity region 591 602 N/A INTRINSIC
RhoGAP 634 808 5.47e-64 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000182066
AA Change: V598G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138496
Gene: ENSMUSG00000041225
AA Change: V598G

DomainStartEndE-ValueType
SH3 13 71 1.53e-3 SMART
low complexity region 208 224 N/A INTRINSIC
WW 264 296 3.39e-6 SMART
WW 309 341 5.5e0 SMART
PH 409 522 9.56e-11 SMART
low complexity region 524 533 N/A INTRINSIC
low complexity region 541 555 N/A INTRINSIC
low complexity region 569 580 N/A INTRINSIC
RhoGAP 612 786 5.47e-64 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000182213
AA Change: V650G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138464
Gene: ENSMUSG00000041225
AA Change: V650G

DomainStartEndE-ValueType
SH3 13 71 1.53e-3 SMART
low complexity region 208 224 N/A INTRINSIC
WW 264 296 3.39e-6 SMART
WW 356 388 1.06e1 SMART
PH 461 574 9.56e-11 SMART
low complexity region 576 585 N/A INTRINSIC
low complexity region 593 607 N/A INTRINSIC
low complexity region 621 632 N/A INTRINSIC
RhoGAP 664 838 5.47e-64 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182343
Predicted Effect probably damaging
Transcript: ENSMUST00000182383
AA Change: V573G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138444
Gene: ENSMUSG00000041225
AA Change: V573G

DomainStartEndE-ValueType
SH3 13 71 1.53e-3 SMART
low complexity region 208 224 N/A INTRINSIC
WW 264 296 3.39e-6 SMART
WW 309 341 5.5e0 SMART
PH 384 497 9.56e-11 SMART
low complexity region 499 508 N/A INTRINSIC
low complexity region 516 530 N/A INTRINSIC
low complexity region 544 555 N/A INTRINSIC
RhoGAP 587 761 5.47e-64 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000182559
AA Change: V645G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138585
Gene: ENSMUSG00000041225
AA Change: V645G

DomainStartEndE-ValueType
SH3 13 71 1.53e-3 SMART
low complexity region 208 224 N/A INTRINSIC
WW 264 296 3.39e-6 SMART
WW 356 388 1.06e1 SMART
PH 456 569 9.56e-11 SMART
low complexity region 571 580 N/A INTRINSIC
low complexity region 588 602 N/A INTRINSIC
low complexity region 616 627 N/A INTRINSIC
RhoGAP 659 833 5.47e-64 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.7%
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 a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: A null gene trap mutation resulted in no notable phenotype in homozygous mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,154,906 (GRCm39) M987K probably benign Het
Akap3 A G 6: 126,842,929 (GRCm39) D516G probably benign Het
Ccdc122 T C 14: 77,305,351 (GRCm39) S2P probably damaging Het
Cel T C 2: 28,446,752 (GRCm39) Y473C probably damaging Het
Cfap157 C T 2: 32,667,935 (GRCm39) V469M possibly damaging Het
Cyp2c40 C G 19: 39,801,121 (GRCm39) V45L probably benign Het
Dtx3l C T 16: 35,753,638 (GRCm39) A323T probably damaging Het
Erap1 A G 13: 74,821,762 (GRCm39) T706A probably benign Het
Esyt1 A T 10: 128,352,427 (GRCm39) V728E probably benign Het
Etnk2 A G 1: 133,301,010 (GRCm39) D259G probably benign Het
Evi5 T G 5: 107,968,444 (GRCm39) I184L probably benign Het
Fem1a G C 17: 56,564,791 (GRCm39) D295H probably damaging Het
Hectd4 T C 5: 121,424,799 (GRCm39) F83S probably damaging Het
Hephl1 T C 9: 14,991,436 (GRCm39) T601A probably benign Het
Isoc1 T C 18: 58,804,695 (GRCm39) V201A probably benign Het
Kcnt2 A T 1: 140,501,346 (GRCm39) D830V probably damaging Het
Lrfn1 G T 7: 28,166,544 (GRCm39) C646F possibly damaging Het
Nbeal1 T C 1: 60,299,428 (GRCm39) Y1255H probably benign Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Or4c120 A G 2: 89,001,212 (GRCm39) S115P possibly damaging Het
Or5k16 A T 16: 58,736,697 (GRCm39) Y102* probably null Het
Or9m1 A C 2: 87,733,248 (GRCm39) I257M probably damaging Het
Pik3r4 G A 9: 105,540,328 (GRCm39) A739T probably benign Het
Prpf8 T C 11: 75,386,111 (GRCm39) V920A probably damaging Het
Slc16a7 A C 10: 125,067,016 (GRCm39) S208A probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc35g2 A T 9: 100,435,047 (GRCm39) I208N probably damaging Het
Suclg1 A G 6: 73,233,210 (GRCm39) I51V probably benign Het
Thoc2l T C 5: 104,666,336 (GRCm39) L286P probably damaging Het
Other mutations in Arhgap12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01468:Arhgap12 APN 18 6,057,576 (GRCm39) missense probably benign 0.01
IGL01652:Arhgap12 APN 18 6,061,853 (GRCm39) missense possibly damaging 0.89
IGL01886:Arhgap12 APN 18 6,027,613 (GRCm39) missense probably damaging 1.00
IGL02716:Arhgap12 APN 18 6,111,857 (GRCm39) missense possibly damaging 0.95
IGL03195:Arhgap12 APN 18 6,031,766 (GRCm39) missense probably damaging 1.00
eelier UTSW 18 6,061,930 (GRCm39) missense possibly damaging 0.80
eerie UTSW 18 6,111,734 (GRCm39) missense probably damaging 1.00
IGL03134:Arhgap12 UTSW 18 6,111,936 (GRCm39) missense probably benign 0.22
R0312:Arhgap12 UTSW 18 6,061,982 (GRCm39) intron probably benign
R0330:Arhgap12 UTSW 18 6,039,382 (GRCm39) missense probably damaging 1.00
R0600:Arhgap12 UTSW 18 6,064,433 (GRCm39) intron probably benign
R0891:Arhgap12 UTSW 18 6,026,699 (GRCm39) missense probably damaging 1.00
R1395:Arhgap12 UTSW 18 6,037,058 (GRCm39) missense probably benign 0.20
R1644:Arhgap12 UTSW 18 6,112,340 (GRCm39) missense probably benign 0.00
R2968:Arhgap12 UTSW 18 6,111,732 (GRCm39) missense probably damaging 1.00
R2970:Arhgap12 UTSW 18 6,111,732 (GRCm39) missense probably damaging 1.00
R3809:Arhgap12 UTSW 18 6,037,057 (GRCm39) missense probably benign 0.36
R3824:Arhgap12 UTSW 18 6,061,930 (GRCm39) missense possibly damaging 0.80
R4181:Arhgap12 UTSW 18 6,111,734 (GRCm39) missense probably damaging 1.00
R4182:Arhgap12 UTSW 18 6,111,734 (GRCm39) missense probably damaging 1.00
R4183:Arhgap12 UTSW 18 6,111,734 (GRCm39) missense probably damaging 1.00
R4497:Arhgap12 UTSW 18 6,111,774 (GRCm39) missense probably damaging 1.00
R4498:Arhgap12 UTSW 18 6,111,774 (GRCm39) missense probably damaging 1.00
R5456:Arhgap12 UTSW 18 6,112,170 (GRCm39) nonsense probably null
R5539:Arhgap12 UTSW 18 6,111,932 (GRCm39) missense probably benign 0.00
R5915:Arhgap12 UTSW 18 6,037,016 (GRCm39) critical splice donor site probably null
R6859:Arhgap12 UTSW 18 6,111,803 (GRCm39) missense probably damaging 1.00
R6960:Arhgap12 UTSW 18 6,111,901 (GRCm39) missense probably damaging 1.00
R7114:Arhgap12 UTSW 18 6,028,056 (GRCm39) missense probably damaging 1.00
R7285:Arhgap12 UTSW 18 6,111,920 (GRCm39) missense probably damaging 1.00
R7359:Arhgap12 UTSW 18 6,065,709 (GRCm39) missense possibly damaging 0.92
R8048:Arhgap12 UTSW 18 6,052,883 (GRCm39) missense probably benign 0.02
R8249:Arhgap12 UTSW 18 6,027,635 (GRCm39) missense probably damaging 1.00
R8523:Arhgap12 UTSW 18 6,111,976 (GRCm39) missense probably benign 0.12
R9110:Arhgap12 UTSW 18 6,034,539 (GRCm39) missense possibly damaging 0.94
R9444:Arhgap12 UTSW 18 6,052,909 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGGACAGATAATGTAGCGCCACATC -3'
(R):5'- ACCACCTTCAAATCAAGTGGCTGG -3'

Sequencing Primer
(F):5'- tgtgtgtgggtggggtg -3'
(R):5'- CTTGCACTCTGAAGGACTCA -3'
Posted On 2014-01-05