Incidental Mutation 'R2031:Arhgap28'
ID 221297
Institutional Source Beutler Lab
Gene Symbol Arhgap28
Ensembl Gene ENSMUSG00000024043
Gene Name Rho GTPase activating protein 28
Synonyms
MMRRC Submission 040038-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2031 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 68149708-68311115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 68203111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 114 (T114N)
Ref Sequence ENSEMBL: ENSMUSP00000128194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024840] [ENSMUST00000163865] [ENSMUST00000164647]
AlphaFold Q8BN58
Predicted Effect probably damaging
Transcript: ENSMUST00000024840
AA Change: T164N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024840
Gene: ENSMUSG00000024043
AA Change: T164N

DomainStartEndE-ValueType
low complexity region 63 76 N/A INTRINSIC
RhoGAP 400 578 1.41e-34 SMART
Blast:RhoGAP 583 612 2e-7 BLAST
Blast:RhoGAP 640 681 9e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000163865
AA Change: T114N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130960
Gene: ENSMUSG00000024043
AA Change: T114N

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
RhoGAP 350 527 7.1e-31 SMART
Blast:RhoGAP 532 561 1e-7 BLAST
Blast:RhoGAP 589 630 8e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000164647
AA Change: T114N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128194
Gene: ENSMUSG00000024043
AA Change: T114N

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
RhoGAP 350 528 1.41e-34 SMART
Blast:RhoGAP 533 562 1e-7 BLAST
Blast:RhoGAP 590 631 8e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000170581
SMART Domains Protein: ENSMUSP00000131903
Gene: ENSMUSG00000024043

DomainStartEndE-ValueType
Blast:RhoGAP 151 213 1e-33 BLAST
SCOP:d1tx4a_ 182 235 1e-10 SMART
Meta Mutation Damage Score 0.1728 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 98% (55/56)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal bone length and ossification. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b G T 5: 121,639,118 (GRCm39) N642K possibly damaging Het
Akap11 T A 14: 78,747,477 (GRCm39) I1637L possibly damaging Het
Aoc1l1 T C 6: 48,952,789 (GRCm39) V238A probably damaging Het
Arid5b A G 10: 68,114,518 (GRCm39) probably null Het
Atp10a T A 7: 58,477,678 (GRCm39) C1292* probably null Het
Casp4 A G 9: 5,321,401 (GRCm39) S51G probably benign Het
Cast T C 13: 74,946,771 (GRCm39) probably null Het
Ccdc87 T C 19: 4,891,715 (GRCm39) F736L probably damaging Het
Cdon T C 9: 35,415,370 (GRCm39) S1203P probably damaging Het
Cep290 G A 10: 100,348,262 (GRCm39) probably null Het
Cep85 A G 4: 133,859,761 (GRCm39) V634A probably benign Het
Cpeb3 C T 19: 37,022,079 (GRCm39) R589H probably damaging Het
Crebrf T G 17: 26,961,895 (GRCm39) S331A probably damaging Het
Cul5 A G 9: 53,578,480 (GRCm39) V36A probably benign Het
Dock2 T A 11: 34,618,297 (GRCm39) probably benign Het
Dstyk G A 1: 132,380,929 (GRCm39) A475T probably damaging Het
Enpp6 C A 8: 47,506,649 (GRCm39) P151Q probably damaging Het
Fan1 A G 7: 64,004,172 (GRCm39) Y765H probably damaging Het
Hsfy2 A T 1: 56,675,476 (GRCm39) S354T probably benign Het
Ifi204 A C 1: 173,580,343 (GRCm39) F389C probably damaging Het
Ikbip T C 10: 90,932,474 (GRCm39) Y373H probably benign Het
Kbtbd11 C A 8: 15,078,021 (GRCm39) P207T possibly damaging Het
Krt73 A C 15: 101,707,199 (GRCm39) probably benign Het
Mfsd6 T A 1: 52,748,013 (GRCm39) Q284L probably benign Het
Mmp1b T A 9: 7,368,607 (GRCm39) D415V possibly damaging Het
Mrc1 A T 2: 14,326,584 (GRCm39) T1161S probably damaging Het
Ms4a18 A G 19: 10,991,014 (GRCm39) S27P probably benign Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Mycbp2 G T 14: 103,426,028 (GRCm39) R2366S probably damaging Het
Nfkbia A G 12: 55,537,937 (GRCm39) L172P probably damaging Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Or1d2 A G 11: 74,255,777 (GRCm39) Y94C probably damaging Het
Or2ag15 A G 7: 106,341,105 (GRCm39) F12S probably damaging Het
Or4c107 A G 2: 88,789,643 (GRCm39) T278A probably benign Het
Or51f1e A G 7: 102,747,371 (GRCm39) Y141C probably damaging Het
Or5an10 A T 19: 12,275,740 (GRCm39) V252D probably damaging Het
Or5b112 T C 19: 13,319,770 (GRCm39) L216S probably benign Het
Parvb A T 15: 84,167,036 (GRCm39) Y117F probably benign Het
Plch2 A G 4: 155,127,484 (GRCm39) probably benign Het
Plxnb2 A T 15: 89,047,013 (GRCm39) C769* probably null Het
Plxnc1 G T 10: 94,779,529 (GRCm39) D304E probably benign Het
Prkg2 T C 5: 99,172,310 (GRCm39) D135G possibly damaging Het
Ptprb A G 10: 116,153,448 (GRCm39) D635G probably benign Het
Rapgef6 T G 11: 54,443,684 (GRCm39) V89G probably benign Het
Ror2 T A 13: 53,271,366 (GRCm39) T330S probably benign Het
Ros1 A G 10: 51,943,164 (GRCm39) V2050A possibly damaging Het
Serpinb6e T C 13: 34,021,733 (GRCm39) probably benign Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Smarca4 T C 9: 21,597,358 (GRCm39) V1371A possibly damaging Het
Syvn1 G A 19: 6,100,560 (GRCm39) R317H probably damaging Het
Tdo2 T A 3: 81,876,812 (GRCm39) D139V probably damaging Het
Tmem130 A G 5: 144,689,236 (GRCm39) V135A possibly damaging Het
Tpr A T 1: 150,317,870 (GRCm39) Q2126L probably benign Het
Txlnb A G 10: 17,706,062 (GRCm39) M324V possibly damaging Het
Ubxn10 A G 4: 138,448,574 (GRCm39) M34T possibly damaging Het
Vmn2r95 T C 17: 18,659,717 (GRCm39) W154R possibly damaging Het
Other mutations in Arhgap28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Arhgap28 APN 17 68,152,796 (GRCm39) missense probably damaging 1.00
IGL01388:Arhgap28 APN 17 68,160,034 (GRCm39) unclassified probably benign
IGL01560:Arhgap28 APN 17 68,203,066 (GRCm39) missense probably damaging 1.00
IGL01578:Arhgap28 APN 17 68,165,195 (GRCm39) missense probably benign 0.00
IGL01650:Arhgap28 APN 17 68,180,127 (GRCm39) missense probably damaging 0.97
IGL02383:Arhgap28 APN 17 68,203,084 (GRCm39) missense probably benign 0.00
IGL02403:Arhgap28 APN 17 68,180,154 (GRCm39) missense possibly damaging 0.87
IGL02652:Arhgap28 APN 17 68,191,795 (GRCm39) missense probably benign 0.00
IGL03102:Arhgap28 APN 17 68,203,231 (GRCm39) missense probably damaging 1.00
IGL03209:Arhgap28 APN 17 68,175,951 (GRCm39) missense probably damaging 1.00
IGL03306:Arhgap28 APN 17 68,159,930 (GRCm39) missense probably damaging 1.00
K3955:Arhgap28 UTSW 17 68,311,001 (GRCm39) missense probably damaging 0.98
PIT4445001:Arhgap28 UTSW 17 68,203,230 (GRCm39) missense possibly damaging 0.94
R0135:Arhgap28 UTSW 17 68,171,583 (GRCm39) missense probably damaging 1.00
R0309:Arhgap28 UTSW 17 68,208,424 (GRCm39) missense probably benign 0.13
R0385:Arhgap28 UTSW 17 68,171,601 (GRCm39) missense probably damaging 1.00
R0412:Arhgap28 UTSW 17 68,203,253 (GRCm39) missense probably damaging 1.00
R0463:Arhgap28 UTSW 17 68,203,220 (GRCm39) missense probably damaging 1.00
R0626:Arhgap28 UTSW 17 68,203,108 (GRCm39) splice site probably null
R0691:Arhgap28 UTSW 17 68,203,159 (GRCm39) splice site probably null
R0811:Arhgap28 UTSW 17 68,208,294 (GRCm39) small deletion probably benign
R1150:Arhgap28 UTSW 17 68,164,459 (GRCm39) missense probably damaging 1.00
R1151:Arhgap28 UTSW 17 68,164,459 (GRCm39) missense probably damaging 1.00
R1152:Arhgap28 UTSW 17 68,164,459 (GRCm39) missense probably damaging 1.00
R1426:Arhgap28 UTSW 17 68,164,459 (GRCm39) missense probably damaging 1.00
R1427:Arhgap28 UTSW 17 68,164,459 (GRCm39) missense probably damaging 1.00
R1632:Arhgap28 UTSW 17 68,156,069 (GRCm39) missense probably damaging 0.99
R1747:Arhgap28 UTSW 17 68,208,304 (GRCm39) missense probably benign 0.02
R1951:Arhgap28 UTSW 17 68,208,336 (GRCm39) missense probably benign 0.00
R2126:Arhgap28 UTSW 17 68,176,010 (GRCm39) missense possibly damaging 0.90
R2181:Arhgap28 UTSW 17 68,203,112 (GRCm39) missense probably damaging 1.00
R3700:Arhgap28 UTSW 17 68,208,361 (GRCm39) missense probably damaging 1.00
R3800:Arhgap28 UTSW 17 68,180,031 (GRCm39) missense probably damaging 1.00
R3811:Arhgap28 UTSW 17 68,203,088 (GRCm39) missense probably benign
R4213:Arhgap28 UTSW 17 68,178,988 (GRCm39) missense probably benign 0.04
R4347:Arhgap28 UTSW 17 68,180,137 (GRCm39) missense probably benign
R4954:Arhgap28 UTSW 17 68,176,008 (GRCm39) nonsense probably null
R5592:Arhgap28 UTSW 17 68,165,267 (GRCm39) missense probably damaging 0.99
R5610:Arhgap28 UTSW 17 68,203,235 (GRCm39) nonsense probably null
R5758:Arhgap28 UTSW 17 68,180,154 (GRCm39) missense probably benign 0.04
R5774:Arhgap28 UTSW 17 68,188,487 (GRCm39) missense possibly damaging 0.94
R6413:Arhgap28 UTSW 17 68,182,583 (GRCm39) missense probably benign 0.00
R6661:Arhgap28 UTSW 17 68,152,746 (GRCm39) missense probably damaging 1.00
R7255:Arhgap28 UTSW 17 68,159,999 (GRCm39) missense probably damaging 0.99
R7324:Arhgap28 UTSW 17 68,202,879 (GRCm39) splice site probably null
R7338:Arhgap28 UTSW 17 68,203,106 (GRCm39) missense probably damaging 1.00
R7549:Arhgap28 UTSW 17 68,178,961 (GRCm39) missense probably damaging 1.00
R7860:Arhgap28 UTSW 17 68,208,277 (GRCm39) nonsense probably null
R8516:Arhgap28 UTSW 17 68,180,068 (GRCm39) missense probably benign 0.08
R9210:Arhgap28 UTSW 17 68,162,430 (GRCm39) missense probably benign 0.00
R9212:Arhgap28 UTSW 17 68,162,430 (GRCm39) missense probably benign 0.00
R9779:Arhgap28 UTSW 17 68,152,764 (GRCm39) missense probably benign 0.00
Z1088:Arhgap28 UTSW 17 68,168,272 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- AGACCTGTTGGCTCTAGCTTC -3'
(R):5'- TTCCTCTAGAAAAGGCCCTAAC -3'

Sequencing Primer
(F):5'- AGCTTCCTCCGAGAGTTAACATGG -3'
(R):5'- GGCCCTAACCTGCCTTG -3'
Posted On 2014-08-25