Incidental Mutation 'R6960:Arhgap12'
ID 541730
Institutional Source Beutler Lab
Gene Symbol Arhgap12
Ensembl Gene ENSMUSG00000041225
Gene Name Rho GTPase activating protein 12
Synonyms 2810011M08Rik
MMRRC Submission 045070-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6960 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 6024448-6136102 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6111901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 26 (N26K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062584] [ENSMUST00000077128] [ENSMUST00000182038] [ENSMUST00000182066] [ENSMUST00000182213] [ENSMUST00000182383] [ENSMUST00000182559]
AlphaFold Q8C0D4
Predicted Effect probably damaging
Transcript: ENSMUST00000062584
AA Change: N154K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054209
Gene: ENSMUSG00000041225
AA Change: N154K

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: N154K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000076376
Gene: ENSMUSG00000041225
AA Change: N154K

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: ENSMUST00000182038
AA Change: N154K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138150
Gene: ENSMUSG00000041225
AA Change: N154K

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
Predicted Effect probably damaging
Transcript: ENSMUST00000182066
AA Change: N154K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138496
Gene: ENSMUSG00000041225
AA Change: N154K

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: N154K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138464
Gene: ENSMUSG00000041225
AA Change: N154K

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: N154K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138444
Gene: ENSMUSG00000041225
AA Change: N154K

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: N154K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138585
Gene: ENSMUSG00000041225
AA Change: N154K

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: ENSMUST00000182921
AA Change: N26K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 98% (50/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,072,924 (GRCm39) D1170G probably benign Het
Ak7 A T 12: 105,676,503 (GRCm39) T68S probably benign Het
B3galt1 A T 2: 67,949,033 (GRCm39) E249D probably damaging Het
Catsper4 T A 4: 133,954,648 (GRCm39) M1L probably benign Het
Cc2d2b T C 19: 40,773,506 (GRCm39) V523A possibly damaging Het
Ccn4 C T 15: 66,791,047 (GRCm39) T283M probably benign Het
Cyp11a1 T C 9: 57,925,659 (GRCm39) F98S probably damaging Het
Cyp2d26 T C 15: 82,674,446 (GRCm39) S479G probably damaging Het
Dclre1a T G 19: 56,531,141 (GRCm39) Y735S probably damaging Het
Dio2 C T 12: 90,696,671 (GRCm39) G106R probably damaging Het
Efcab12 T C 6: 115,815,273 (GRCm39) probably benign Het
Ehhadh C A 16: 21,581,028 (GRCm39) V655L probably benign Het
Ercc2 G A 7: 19,127,615 (GRCm39) R379Q probably damaging Het
Fabp4 A G 3: 10,273,537 (GRCm39) V12A probably benign Het
Fbn1 T C 2: 125,223,980 (GRCm39) I590V probably benign Het
Grm8 C A 6: 27,981,281 (GRCm39) V210L probably damaging Het
Jakmip3 A G 7: 138,625,065 (GRCm39) D359G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Ly75 A T 2: 60,136,749 (GRCm39) Y1493N probably benign Het
Lyst A G 13: 13,808,663 (GRCm39) N111S probably benign Het
Lyz2 G C 10: 117,114,607 (GRCm39) I107M possibly damaging Het
Mgat5 A T 1: 127,248,371 (GRCm39) D91V possibly damaging Het
Mical3 T A 6: 120,935,504 (GRCm39) D1674V probably damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Naa16 A G 14: 79,596,911 (GRCm39) Y358H possibly damaging Het
Nktr T A 9: 121,571,758 (GRCm39) H226Q probably damaging Het
Ocln T G 13: 100,635,380 (GRCm39) K503T possibly damaging Het
Olfm4 T C 14: 80,258,754 (GRCm39) L301S probably damaging Het
Or4f4b G A 2: 111,314,071 (GRCm39) V127I possibly damaging Het
Or6c74 T C 10: 129,869,972 (GRCm39) L159P probably benign Het
Paqr4 G A 17: 23,956,697 (GRCm39) A222V probably benign Het
Pcdhb13 A G 18: 37,576,509 (GRCm39) T296A probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Pigg T C 5: 108,474,707 (GRCm39) V309A probably damaging Het
Ptger4 T C 15: 5,264,196 (GRCm39) R462G probably benign Het
Ptprc C T 1: 138,006,183 (GRCm39) probably null Het
Rabggta A C 14: 55,959,299 (GRCm39) probably null Het
Rnf25 A G 1: 74,634,403 (GRCm39) S207P possibly damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Rtf1 A G 2: 119,541,559 (GRCm39) Q264R probably damaging Het
Ryr2 A G 13: 11,816,129 (GRCm39) V619A probably benign Het
Serpinb6d A G 13: 33,855,181 (GRCm39) N285S probably benign Het
Slamf6 A G 1: 171,745,320 (GRCm39) M16V probably damaging Het
Slc22a23 A G 13: 34,528,140 (GRCm39) probably null Het
Slc23a2 T C 2: 131,933,173 (GRCm39) D95G probably damaging Het
Smc3 T C 19: 53,617,802 (GRCm39) Y600H probably damaging Het
Tarbp1 G A 8: 127,155,778 (GRCm39) T1320M possibly damaging Het
Tigd4 A T 3: 84,501,423 (GRCm39) K113N probably damaging Het
Tjp1 A T 7: 64,952,763 (GRCm39) F1444I possibly damaging Het
Tstd3 A T 4: 21,767,118 (GRCm39) M1K probably null Het
Zbtb46 T C 2: 181,065,217 (GRCm39) D311G 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
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
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'- ATCCTGCTGTATTCTTTCGGAG -3'
(R):5'- AAGCTCTGATGCCACCTGTG -3'

Sequencing Primer
(F):5'- GAGCCTTCTCCAGCTGAGTCAC -3'
(R):5'- TACAGAGTATGCATCTCCAGAGATCG -3'
Posted On 2018-11-28