Incidental Mutation 'R7114:Arhgap12'
ID 551706
Institutional Source Beutler Lab
Gene Symbol Arhgap12
Ensembl Gene ENSMUSG00000041225
Gene Name Rho GTPase activating protein 12
Synonyms 2810011M08Rik
MMRRC Submission 045244-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7114 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 6024448-6136102 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6028056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 690 (I690F)
Ref Sequence ENSEMBL: ENSMUSP00000076376 (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: I673F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054209
Gene: ENSMUSG00000041225
AA Change: I673F

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: I690F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076376
Gene: ENSMUSG00000041225
AA Change: I690F

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: I668F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138496
Gene: ENSMUSG00000041225
AA Change: I668F

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: I720F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138464
Gene: ENSMUSG00000041225
AA Change: I720F

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 probably damaging
Transcript: ENSMUST00000182383
AA Change: I643F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138444
Gene: ENSMUSG00000041225
AA Change: I643F

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: I715F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138585
Gene: ENSMUSG00000041225
AA Change: I715F

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (59/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C T 11: 119,900,445 (GRCm39) A1291T probably benign Het
Anks1b G A 10: 90,143,560 (GRCm39) R523Q probably damaging Het
Caln1 T C 5: 130,868,124 (GRCm39) V220A possibly damaging Het
Cd79b T A 11: 106,202,713 (GRCm39) T263S probably damaging Het
Cep290 A T 10: 100,379,220 (GRCm39) K67N probably damaging Het
Col19a1 T C 1: 24,377,017 (GRCm39) T443A possibly damaging Het
Col25a1 A G 3: 130,389,324 (GRCm39) I636V probably benign Het
Col9a3 C T 2: 180,245,590 (GRCm39) P154S unknown Het
Cyp3a11 T A 5: 145,795,593 (GRCm39) M453L probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Eno1b T C 18: 48,180,560 (GRCm39) V246A possibly damaging Het
Eogt T C 6: 97,092,965 (GRCm39) Y404C probably damaging Het
Ephx3 T A 17: 32,404,006 (GRCm39) E380V possibly damaging Het
Fancl T C 11: 26,357,615 (GRCm39) L114P probably damaging Het
Flad1 C T 3: 89,314,837 (GRCm39) G287S probably benign Het
Gcm1 G T 9: 77,967,061 (GRCm39) K93N probably damaging Het
Golga3 T A 5: 110,350,578 (GRCm39) D704E probably benign Het
Grb14 A C 2: 64,747,197 (GRCm39) I451S probably damaging Het
Gtf3c3 T C 1: 54,462,666 (GRCm39) N366D probably benign Het
Hecw1 A T 13: 14,486,356 (GRCm39) H376Q probably benign Het
Helb A T 10: 119,941,161 (GRCm39) V509E probably benign Het
Hephl1 C T 9: 14,981,111 (GRCm39) E774K probably damaging Het
Hkdc1 T C 10: 62,229,622 (GRCm39) E685G probably damaging Het
Igfn1 T C 1: 135,894,519 (GRCm39) T2016A probably benign Het
Igkv5-43 T G 6: 69,800,515 (GRCm39) Q57H probably damaging Het
Lamc3 T A 2: 31,820,657 (GRCm39) V1224E probably damaging Het
Lgals3bp C T 11: 118,284,309 (GRCm39) W423* probably null Het
Mcm9 G A 10: 53,414,669 (GRCm39) T137I possibly damaging Het
Mdga1 C A 17: 30,061,816 (GRCm39) probably null Het
Mocos C T 18: 24,799,572 (GRCm39) P269S probably damaging Het
Naa40 A G 19: 7,207,322 (GRCm39) V134A probably damaging Het
Neb G A 2: 52,082,571 (GRCm39) L5680F probably damaging Het
Nedd9 A G 13: 41,492,099 (GRCm39) V137A probably benign Het
Nup133 T C 8: 124,642,112 (GRCm39) I784V probably benign Het
Nup214 T C 2: 31,915,256 (GRCm39) S1147P possibly damaging Het
Or10x4 A T 1: 174,218,805 (GRCm39) M57L probably damaging Het
Or8g28 G T 9: 39,169,897 (GRCm39) Q24K possibly damaging Het
Plcb4 T A 2: 135,824,043 (GRCm39) probably null Het
Pomt1 C T 2: 32,143,848 (GRCm39) T671I probably benign Het
Pomt2 G T 12: 87,157,150 (GRCm39) P723H probably damaging Het
Prpf8 T A 11: 75,394,181 (GRCm39) Y1741* probably null Het
Ptprs C G 17: 56,758,697 (GRCm39) V175L probably benign Het
Slc36a4 T C 9: 15,633,250 (GRCm39) F95L probably benign Het
Smn1 C T 13: 100,267,648 (GRCm39) P225S probably benign Het
Snrpa A T 7: 26,891,174 (GRCm39) I99N probably benign Het
Tgm5 G T 2: 120,878,977 (GRCm39) Y588* probably null Het
Tmeff2 T A 1: 51,224,404 (GRCm39) probably null Het
Tmem120b T C 5: 123,254,741 (GRCm39) F314S probably damaging Het
Trim43b C T 9: 88,967,661 (GRCm39) R325H probably benign Het
Vmn1r26 C T 6: 57,985,755 (GRCm39) A145T probably benign Het
Wdfy4 T C 14: 32,693,531 (GRCm39) probably null Het
Wnt5a C A 14: 28,244,713 (GRCm39) T320K probably damaging Het
Wrn AGCAGGTAATACATACCG AG 8: 33,775,149 (GRCm39) probably null Het
Zfp398 T C 6: 47,842,910 (GRCm39) S321P probably benign Het
Zfp959 T A 17: 56,205,501 (GRCm39) C513S possibly damaging Het
Zfr2 A G 10: 81,080,559 (GRCm39) D411G probably damaging Het
Zkscan5 T A 5: 145,147,988 (GRCm39) probably benign 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
R1123:Arhgap12 UTSW 18 6,031,822 (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
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'- AATGCGCAGTGACATCTGGTG -3'
(R):5'- GTGATCCAGAAGCTGAGGTTC -3'

Sequencing Primer
(F):5'- GACATCTGGTGGTTGCATTTAAAATC -3'
(R):5'- AGCTGAGGTTCGCAGTCAATC -3'
Posted On 2019-05-15