Incidental Mutation 'R5915:Arhgap12'
ID 461294
Institutional Source Beutler Lab
Gene Symbol Arhgap12
Ensembl Gene ENSMUSG00000041225
Gene Name Rho GTPase activating protein 12
Synonyms 2810011M08Rik
MMRRC Submission 044112-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5915 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 6024448-6136102 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 6037016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062584] [ENSMUST00000077128] [ENSMUST00000182066] [ENSMUST00000182213] [ENSMUST00000182383] [ENSMUST00000182559]
AlphaFold Q8C0D4
Predicted Effect probably null
Transcript: ENSMUST00000062584
SMART Domains Protein: ENSMUSP00000054209
Gene: ENSMUSG00000041225

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 null
Transcript: ENSMUST00000077128
SMART Domains Protein: ENSMUSP00000076376
Gene: ENSMUSG00000041225

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 null
Transcript: ENSMUST00000182066
SMART Domains Protein: ENSMUSP00000138496
Gene: ENSMUSG00000041225

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 noncoding transcript
Transcript: ENSMUST00000182101
Predicted Effect probably null
Transcript: ENSMUST00000182213
SMART Domains Protein: ENSMUSP00000138464
Gene: ENSMUSG00000041225

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 null
Transcript: ENSMUST00000182383
SMART Domains Protein: ENSMUSP00000138444
Gene: ENSMUSG00000041225

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 null
Transcript: ENSMUST00000182559
SMART Domains Protein: ENSMUSP00000138585
Gene: ENSMUSG00000041225

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
Meta Mutation Damage Score 0.9492 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 98% (60/61)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,644,122 (GRCm39) V940E probably damaging Het
Adgrg7 A T 16: 56,550,748 (GRCm39) probably null Het
Alox12e T C 11: 70,209,050 (GRCm39) I399V possibly damaging Het
Apoa5 C A 9: 46,180,607 (GRCm39) Q42K probably damaging Het
Arfgap1 A G 2: 180,620,215 (GRCm39) Y243C possibly damaging Het
Arl16 G A 11: 120,357,431 (GRCm39) probably benign Het
Atp8b5 A G 4: 43,370,577 (GRCm39) D951G probably damaging Het
Babam2 T A 5: 31,942,955 (GRCm39) L80Q probably damaging Het
Celsr1 C T 15: 85,822,176 (GRCm39) V1714I probably benign Het
Celsr1 C T 15: 85,914,550 (GRCm39) R1141H probably damaging Het
Cep295 A G 9: 15,252,775 (GRCm39) L351P probably damaging Het
Dlc1 T A 8: 37,405,829 (GRCm39) probably benign Het
Dpy30 G T 17: 74,622,906 (GRCm39) D25E probably benign Het
Drosha T C 15: 12,935,152 (GRCm39) W998R probably damaging Het
Fibp A G 19: 5,513,644 (GRCm39) D220G possibly damaging Het
Grm3 C T 5: 9,561,927 (GRCm39) C641Y probably damaging Het
Gulo A T 14: 66,245,570 (GRCm39) V8D probably benign Het
Ifrd1 A T 12: 40,263,095 (GRCm39) C164S possibly damaging Het
Jam2 G A 16: 84,606,295 (GRCm39) S103N probably benign Het
Krtap17-1 T C 11: 99,884,444 (GRCm39) T108A unknown Het
Man2a2 A G 7: 80,010,669 (GRCm39) F774S probably benign Het
Map1b G A 13: 99,566,839 (GRCm39) R1961W unknown Het
Mib2 A G 4: 155,740,508 (GRCm39) probably benign Het
Mr1 A T 1: 155,012,534 (GRCm39) F127I probably damaging Het
Mrgprb2 A G 7: 48,202,554 (GRCm39) I57T probably benign Het
Ncan G T 8: 70,550,731 (GRCm39) Y1154* probably null Het
Nfx1 T A 4: 40,977,285 (GRCm39) S320T probably benign Het
Nlrp4f A G 13: 65,335,369 (GRCm39) L740P probably damaging Het
Nprl2 T C 9: 107,422,277 (GRCm39) probably benign Het
Opn1sw A G 6: 29,379,754 (GRCm39) probably null Het
Or5bw2 A T 7: 6,573,172 (GRCm39) I61F probably benign Het
Palld A G 8: 61,986,386 (GRCm39) probably null Het
Phf14 T A 6: 11,933,726 (GRCm39) M196K possibly damaging Het
Rnf145 T C 11: 44,433,549 (GRCm39) probably null Het
Sbf2 A T 7: 109,977,303 (GRCm39) C610* probably null Het
Sec24a C T 11: 51,646,964 (GRCm39) A13T probably benign Het
Smim8 TCTCCTC TCTC 4: 34,769,010 (GRCm39) probably benign Het
Sox8 A C 17: 25,786,443 (GRCm39) L420R probably damaging Het
Sry C G Y: 2,662,612 (GRCm39) Q349H unknown Het
Sspo A G 6: 48,441,530 (GRCm39) D1889G probably benign Het
Sspo A T 6: 48,468,418 (GRCm39) H4382L possibly damaging Het
Tmem65 T C 15: 58,662,037 (GRCm39) I141V probably damaging Het
Tpr A T 1: 150,301,400 (GRCm39) T1329S probably benign Het
Trim17 C T 11: 58,859,388 (GRCm39) R201W probably damaging Het
Trim3 A G 7: 105,267,182 (GRCm39) L399P possibly damaging Het
Trim7 A G 11: 48,736,477 (GRCm39) D277G possibly damaging Het
Vstm2b A G 7: 40,552,107 (GRCm39) N153S possibly damaging Het
Wnk2 G T 13: 49,231,561 (GRCm39) Q786K probably damaging Het
Wnk4 A G 11: 101,154,720 (GRCm39) *286W probably null Het
Xpot A T 10: 121,450,998 (GRCm39) L134Q probably damaging Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zc3h7a G A 16: 10,982,466 (GRCm39) Q20* probably null Het
Zfp599 C T 9: 22,161,130 (GRCm39) C345Y 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
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
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'- AGGAAAACAGCTTTGCAGTTG -3'
(R):5'- AAGACTGAGTGCACTGCAG -3'

Sequencing Primer
(F):5'- GATAGCGACAGGTAGCTCTG -3'
(R):5'- CTGCAGACAGTGGGCTTG -3'
Posted On 2017-02-28