Incidental Mutation 'R9423:Dab2ip'
ID 712419
Institutional Source Beutler Lab
Gene Symbol Dab2ip
Ensembl Gene ENSMUSG00000026883
Gene Name disabled 2 interacting protein
Synonyms 2310011D08Rik, AIP1
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.380) question?
Stock # R9423 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 35448285-35621006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35599966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 251 (T251M)
Ref Sequence ENSEMBL: ENSMUSP00000088532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065001] [ENSMUST00000091010] [ENSMUST00000112983] [ENSMUST00000112986] [ENSMUST00000112987] [ENSMUST00000112992] [ENSMUST00000135741] [ENSMUST00000145698]
AlphaFold Q3UHC7
Predicted Effect probably damaging
Transcript: ENSMUST00000065001
AA Change: T186M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068832
Gene: ENSMUSG00000026883
AA Change: T186M

DomainStartEndE-ValueType
PH 10 139 3.63e-2 SMART
C2 149 245 1.34e-7 SMART
RasGAP 255 592 1.08e-126 SMART
low complexity region 604 616 N/A INTRINSIC
Blast:RasGAP 629 694 4e-29 BLAST
low complexity region 733 745 N/A INTRINSIC
low complexity region 780 805 N/A INTRINSIC
low complexity region 855 873 N/A INTRINSIC
coiled coil region 961 1095 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000091010
AA Change: T251M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088532
Gene: ENSMUSG00000026883
AA Change: T251M

DomainStartEndE-ValueType
low complexity region 13 39 N/A INTRINSIC
PH 73 204 5.58e-3 SMART
C2 214 310 1.34e-7 SMART
RasGAP 320 657 1.08e-126 SMART
low complexity region 669 681 N/A INTRINSIC
Blast:RasGAP 694 759 4e-29 BLAST
low complexity region 798 810 N/A INTRINSIC
low complexity region 845 870 N/A INTRINSIC
low complexity region 920 938 N/A INTRINSIC
coiled coil region 1026 1160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112981
SMART Domains Protein: ENSMUSP00000108605
Gene: ENSMUSG00000026883

DomainStartEndE-ValueType
Blast:PH 2 80 6e-35 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000112983
AA Change: T127M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108607
Gene: ENSMUSG00000026883
AA Change: T127M

DomainStartEndE-ValueType
low complexity region 6 18 N/A INTRINSIC
C2 90 186 1.34e-7 SMART
RasGAP 196 533 1.08e-126 SMART
low complexity region 545 557 N/A INTRINSIC
Blast:RasGAP 570 635 3e-29 BLAST
low complexity region 674 686 N/A INTRINSIC
low complexity region 721 746 N/A INTRINSIC
low complexity region 796 814 N/A INTRINSIC
coiled coil region 902 1036 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112986
AA Change: T223M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108610
Gene: ENSMUSG00000026883
AA Change: T223M

DomainStartEndE-ValueType
PH 45 176 5.58e-3 SMART
C2 186 282 1.34e-7 SMART
RasGAP 292 629 1.08e-126 SMART
low complexity region 641 653 N/A INTRINSIC
Blast:RasGAP 666 731 4e-29 BLAST
low complexity region 770 782 N/A INTRINSIC
low complexity region 817 842 N/A INTRINSIC
low complexity region 892 910 N/A INTRINSIC
coiled coil region 998 1129 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112987
AA Change: T194M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108611
Gene: ENSMUSG00000026883
AA Change: T194M

DomainStartEndE-ValueType
PH 16 147 5.58e-3 SMART
C2 157 253 1.34e-7 SMART
RasGAP 263 600 1.08e-126 SMART
low complexity region 612 624 N/A INTRINSIC
Blast:RasGAP 637 702 4e-29 BLAST
low complexity region 741 753 N/A INTRINSIC
low complexity region 788 813 N/A INTRINSIC
low complexity region 863 881 N/A INTRINSIC
coiled coil region 969 1103 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112992
AA Change: T251M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108616
Gene: ENSMUSG00000026883
AA Change: T251M

DomainStartEndE-ValueType
low complexity region 13 39 N/A INTRINSIC
PH 73 204 5.58e-3 SMART
C2 214 310 1.34e-7 SMART
RasGAP 320 657 1.08e-126 SMART
low complexity region 669 681 N/A INTRINSIC
Blast:RasGAP 694 759 4e-29 BLAST
low complexity region 798 810 N/A INTRINSIC
low complexity region 845 870 N/A INTRINSIC
low complexity region 920 938 N/A INTRINSIC
Pfam:DUF3498 986 1108 3.3e-61 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000119058
Gene: ENSMUSG00000026883
AA Change: T144M

DomainStartEndE-ValueType
low complexity region 24 36 N/A INTRINSIC
C2 108 204 1.34e-7 SMART
RasGAP 214 551 1.08e-126 SMART
low complexity region 563 575 N/A INTRINSIC
Blast:RasGAP 588 653 3e-29 BLAST
low complexity region 692 704 N/A INTRINSIC
low complexity region 739 764 N/A INTRINSIC
low complexity region 814 832 N/A INTRINSIC
coiled coil region 919 1053 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000135741
AA Change: T194M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122341
Gene: ENSMUSG00000026883
AA Change: T194M

DomainStartEndE-ValueType
PH 16 147 5.58e-3 SMART
C2 157 253 1.34e-7 SMART
RasGAP 263 600 1.08e-126 SMART
low complexity region 612 624 N/A INTRINSIC
Blast:RasGAP 637 702 4e-29 BLAST
low complexity region 741 753 N/A INTRINSIC
low complexity region 788 813 N/A INTRINSIC
low complexity region 863 881 N/A INTRINSIC
coiled coil region 969 1100 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145698
SMART Domains Protein: ENSMUSP00000114915
Gene: ENSMUSG00000026883

DomainStartEndE-ValueType
Blast:PH 1 79 3e-18 BLAST
low complexity region 80 94 N/A INTRINSIC
low complexity region 118 135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156669
SMART Domains Protein: ENSMUSP00000121506
Gene: ENSMUSG00000026883

DomainStartEndE-ValueType
RasGAP 1 283 1.97e-88 SMART
low complexity region 295 307 N/A INTRINSIC
Pfam:DUF3498 317 594 2.9e-78 PFAM
Pfam:DUF3498 591 712 4.2e-70 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (23/23)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor. The DAB2IP gene is inactivated by methylation in prostate and breast cancers (Yano et al., 2005 [PubMed 15386433]).[supplied by OMIM, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired IRE1-mediated endoplasmic reticulum (ER) stress-induced responses. Mice homozygous for a gene trap allele exhibit delayed Purkinje cell dendritogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,901,520 (GRCm39) S959P probably damaging Het
Abca13 T C 11: 9,240,395 (GRCm39) S753P probably damaging Het
Abcb10 A G 8: 124,688,819 (GRCm39) S486P Het
Adamts19 G T 18: 59,023,427 (GRCm39) R274L possibly damaging Het
Ahcyl1 C T 3: 107,578,476 (GRCm39) E254K probably damaging Het
Ccdc177 T G 12: 80,804,162 (GRCm39) D704A unknown Het
Cd200r3 T C 16: 44,771,895 (GRCm39) V53A probably benign Het
Cdc42bpg T C 19: 6,363,329 (GRCm39) L429P probably damaging Het
Cdh23 T C 10: 60,148,387 (GRCm39) D2660G probably damaging Het
Cfap61 G T 2: 145,985,155 (GRCm39) A1000S probably damaging Het
Col28a1 T C 6: 7,999,601 (GRCm39) T1039A probably benign Het
Ctsd A G 7: 141,939,212 (GRCm39) L71P probably damaging Het
Dcaf8 T A 1: 172,007,524 (GRCm39) I331N probably damaging Het
Dcp2 C T 18: 44,538,361 (GRCm39) R173C probably damaging Het
Dgka C T 10: 128,557,055 (GRCm39) C640Y probably damaging Het
Entrep3 T A 3: 89,092,007 (GRCm39) L155Q probably damaging Het
Gm10801 AAGT AAGTAGT 2: 98,494,148 (GRCm39) probably null Het
Gpr141 T C 13: 19,935,995 (GRCm39) N260S probably benign Het
Htr2a T A 14: 74,943,516 (GRCm39) F365L probably damaging Het
Kdm5b T C 1: 134,515,705 (GRCm39) Y110H possibly damaging Het
Ktn1 A G 14: 47,912,318 (GRCm39) T362A probably benign Het
Ltbp1 G A 17: 75,597,112 (GRCm39) S581N probably benign Het
Nr1h4 C A 10: 89,309,688 (GRCm39) R347L possibly damaging Het
Or4f60 A T 2: 111,902,808 (GRCm39) M40K possibly damaging Het
Or8g26 G T 9: 39,095,838 (GRCm39) M118I probably damaging Het
Parg T G 14: 31,939,662 (GRCm39) F563V probably damaging Het
Pfkfb3 T C 2: 11,487,276 (GRCm39) Y378C probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Pitpnm2 A C 5: 124,271,469 (GRCm39) L368R probably benign Het
Pkd1l3 A G 8: 110,350,312 (GRCm39) T386A possibly damaging Het
Plch2 C A 4: 155,071,049 (GRCm39) C1110F Het
Poc5 T C 13: 96,547,114 (GRCm39) V459A probably damaging Het
Pou4f3 T C 18: 42,528,959 (GRCm39) S301P probably damaging Het
Rpf2 T C 10: 40,101,336 (GRCm39) D233G possibly damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Samd4b A G 7: 28,113,633 (GRCm39) Y111H probably benign Het
Serpinb10 C T 1: 107,466,179 (GRCm39) T55M probably benign Het
Serpinb1a C T 13: 33,026,910 (GRCm39) C344Y probably benign Het
Shprh T C 10: 11,081,007 (GRCm39) V1524A probably damaging Het
Sirt1 T C 10: 63,158,025 (GRCm39) H463R probably damaging Het
Skor2 T A 18: 76,948,300 (GRCm39) L674Q probably damaging Het
Slc3a2 T A 19: 8,690,189 (GRCm39) K201M possibly damaging Het
Spata31h1 C A 10: 82,123,459 (GRCm39) V3184L possibly damaging Het
Stam C A 2: 14,146,564 (GRCm39) Q421K possibly damaging Het
Steap4 G A 5: 8,026,720 (GRCm39) V228M probably damaging Het
Tacr3 A G 3: 134,638,043 (GRCm39) Y400C probably benign Het
Tecpr1 A G 5: 144,155,396 (GRCm39) V54A probably damaging Het
Tgm3 A T 2: 129,880,527 (GRCm39) E444D probably benign Het
Trim30a A T 7: 104,078,410 (GRCm39) L222Q probably damaging Het
Trmt1l T C 1: 151,325,817 (GRCm39) Y421H possibly damaging Het
Usp24 T C 4: 106,288,867 (GRCm39) F2500L probably damaging Het
Vmn2r54 T A 7: 12,349,441 (GRCm39) S714C probably damaging Het
Washc5 A G 15: 59,227,735 (GRCm39) I409T probably benign Het
Zfta T C 19: 7,397,624 (GRCm39) L57P probably damaging Het
Other mutations in Dab2ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Dab2ip APN 2 35,610,025 (GRCm39) missense probably damaging 1.00
IGL00799:Dab2ip APN 2 35,597,787 (GRCm39) missense probably benign 0.25
IGL00902:Dab2ip APN 2 35,607,124 (GRCm39) missense probably damaging 1.00
IGL00929:Dab2ip APN 2 35,598,889 (GRCm39) missense possibly damaging 0.91
IGL03052:Dab2ip UTSW 2 35,533,909 (GRCm39) missense probably benign 0.27
R0097:Dab2ip UTSW 2 35,608,928 (GRCm39) missense possibly damaging 0.95
R0137:Dab2ip UTSW 2 35,582,388 (GRCm39) critical splice donor site probably null
R0184:Dab2ip UTSW 2 35,608,803 (GRCm39) missense probably damaging 1.00
R1195:Dab2ip UTSW 2 35,608,757 (GRCm39) splice site probably benign
R1195:Dab2ip UTSW 2 35,608,757 (GRCm39) splice site probably benign
R1388:Dab2ip UTSW 2 35,611,268 (GRCm39) intron probably benign
R1442:Dab2ip UTSW 2 35,600,268 (GRCm39) missense probably damaging 0.97
R1496:Dab2ip UTSW 2 35,608,803 (GRCm39) missense probably damaging 1.00
R1665:Dab2ip UTSW 2 35,610,290 (GRCm39) missense probably damaging 1.00
R1909:Dab2ip UTSW 2 35,608,827 (GRCm39) missense probably damaging 1.00
R3625:Dab2ip UTSW 2 35,533,903 (GRCm39) nonsense probably null
R3819:Dab2ip UTSW 2 35,603,222 (GRCm39) missense probably damaging 1.00
R4333:Dab2ip UTSW 2 35,551,632 (GRCm39) makesense probably null
R4869:Dab2ip UTSW 2 35,610,049 (GRCm39) missense probably damaging 1.00
R4894:Dab2ip UTSW 2 35,620,539 (GRCm39) utr 3 prime probably benign
R5035:Dab2ip UTSW 2 35,599,953 (GRCm39) missense probably benign 0.03
R5180:Dab2ip UTSW 2 35,610,503 (GRCm39) missense possibly damaging 0.83
R5425:Dab2ip UTSW 2 35,600,003 (GRCm39) missense probably benign 0.25
R5513:Dab2ip UTSW 2 35,600,266 (GRCm39) missense probably benign 0.11
R5579:Dab2ip UTSW 2 35,605,339 (GRCm39) nonsense probably null
R5829:Dab2ip UTSW 2 35,597,787 (GRCm39) unclassified probably benign
R5840:Dab2ip UTSW 2 35,617,511 (GRCm39) missense probably damaging 0.98
R5890:Dab2ip UTSW 2 35,605,414 (GRCm39) missense probably damaging 1.00
R6057:Dab2ip UTSW 2 35,582,267 (GRCm39) nonsense probably null
R6235:Dab2ip UTSW 2 35,613,099 (GRCm39) missense probably damaging 1.00
R6360:Dab2ip UTSW 2 35,600,278 (GRCm39) missense probably benign 0.38
R6571:Dab2ip UTSW 2 35,602,902 (GRCm39) missense probably damaging 1.00
R6813:Dab2ip UTSW 2 35,620,485 (GRCm39) nonsense probably null
R7262:Dab2ip UTSW 2 35,512,298 (GRCm39) splice site probably null
R7883:Dab2ip UTSW 2 35,610,218 (GRCm39) missense possibly damaging 0.51
R8127:Dab2ip UTSW 2 35,534,138 (GRCm39) critical splice donor site probably benign
R8313:Dab2ip UTSW 2 35,617,440 (GRCm39) missense probably damaging 1.00
R8387:Dab2ip UTSW 2 35,609,870 (GRCm39) missense probably damaging 0.97
R8422:Dab2ip UTSW 2 35,597,767 (GRCm39) missense probably damaging 0.97
R8560:Dab2ip UTSW 2 35,603,144 (GRCm39) missense probably damaging 1.00
R9263:Dab2ip UTSW 2 35,602,891 (GRCm39) missense probably damaging 1.00
R9342:Dab2ip UTSW 2 35,613,105 (GRCm39) missense possibly damaging 0.75
R9353:Dab2ip UTSW 2 35,598,851 (GRCm39) missense probably damaging 1.00
R9551:Dab2ip UTSW 2 35,605,330 (GRCm39) missense possibly damaging 0.60
R9563:Dab2ip UTSW 2 35,609,915 (GRCm39) nonsense probably null
X0011:Dab2ip UTSW 2 35,613,097 (GRCm39) nonsense probably null
Z1176:Dab2ip UTSW 2 35,598,880 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2022-05-16