Incidental Mutation 'R8422:Dab2ip'
ID 653235
Institutional Source Beutler Lab
Gene Symbol Dab2ip
Ensembl Gene ENSMUSG00000026883
Gene Name disabled 2 interacting protein
Synonyms 2310011D08Rik, AIP1
MMRRC Submission 067817-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.321) question?
Stock # R8422 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 35448285-35621006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35597767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 157 (I157N)
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: I92N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000068832
Gene: ENSMUSG00000026883
AA Change: I92N

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: I157N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000088532
Gene: ENSMUSG00000026883
AA Change: I157N

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 possibly damaging
Transcript: ENSMUST00000112981
AA Change: I64N

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108605
Gene: ENSMUSG00000026883
AA Change: I64N

DomainStartEndE-ValueType
Blast:PH 2 80 6e-35 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000112983
AA Change: I33N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108607
Gene: ENSMUSG00000026883
AA Change: I33N

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: I129N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108610
Gene: ENSMUSG00000026883
AA Change: I129N

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: I100N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108611
Gene: ENSMUSG00000026883
AA Change: I100N

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 probably damaging
Transcript: ENSMUST00000112992
AA Change: I157N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108616
Gene: ENSMUSG00000026883
AA Change: I157N

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 probably benign
Transcript: ENSMUST00000124098
AA Change: I50N

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119058
Gene: ENSMUSG00000026883
AA Change: I50N

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: I100N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122341
Gene: ENSMUSG00000026883
AA Change: I100N

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G T 14: 32,384,254 (GRCm39) S570R possibly damaging Het
4921517D22Rik T C 13: 59,839,443 (GRCm39) M1V probably null Het
4921524J17Rik T G 8: 86,138,918 (GRCm39) K57T possibly damaging Het
4930596D02Rik G T 14: 35,532,009 (GRCm39) Q189K probably benign Het
Anapc1 T C 2: 128,517,757 (GRCm39) T296A probably benign Het
Aqp7 T A 4: 41,035,622 (GRCm39) M78L probably benign Het
C1qtnf5 C A 9: 44,019,961 (GRCm39) A195E possibly damaging Het
Calhm2 T C 19: 47,121,579 (GRCm39) I197V probably benign Het
Ccdc186 G A 19: 56,801,617 (GRCm39) L167F probably benign Het
Ccr3 T C 9: 123,828,799 (GRCm39) Y45H probably damaging Het
Cct3 G C 3: 88,208,126 (GRCm39) R38P probably damaging Het
Clstn2 T C 9: 97,340,239 (GRCm39) D711G probably benign Het
Dchs2 T C 3: 83,232,570 (GRCm39) V2185A probably benign Het
Dis3l2 A G 1: 86,782,099 (GRCm39) T219A probably benign Het
F2rl3 G T 8: 73,489,813 (GRCm39) V347L probably benign Het
Fastkd1 A G 2: 69,532,778 (GRCm39) S530P probably damaging Het
Fgfr3 T A 5: 33,892,249 (GRCm39) Y689* probably null Het
Gm10521 A G 1: 171,724,026 (GRCm39) I112M unknown Het
Gm9736 C A 10: 77,586,714 (GRCm39) V159F unknown Het
Hba-x A T 11: 32,227,736 (GRCm39) H88L probably benign Het
Il12rb2 A T 6: 67,337,800 (GRCm39) V27E probably benign Het
Imp4 G T 1: 34,482,997 (GRCm39) G196V probably damaging Het
Itga11 A C 9: 62,674,960 (GRCm39) I831L probably benign Het
Macf1 C T 4: 123,303,279 (GRCm39) V408I possibly damaging Het
Nedd4 T A 9: 72,649,964 (GRCm39) D771E probably damaging Het
Noc3l T C 19: 38,795,547 (GRCm39) Y413C probably benign Het
Npas3 C A 12: 54,115,292 (GRCm39) T738K probably benign Het
Ntrk2 A T 13: 59,133,715 (GRCm39) D498V probably damaging Het
Nyap1 T C 5: 137,734,083 (GRCm39) T317A probably benign Het
Or10g7 T C 9: 39,905,850 (GRCm39) L248P probably damaging Het
Or14a256 T A 7: 86,265,466 (GRCm39) H129L probably benign Het
Or4c107 T C 2: 88,789,341 (GRCm39) M177T probably benign Het
Or5d47 T A 2: 87,804,143 (GRCm39) I289L probably benign Het
Pcdhb20 A T 18: 37,637,849 (GRCm39) D125V probably damaging Het
Phc3 G A 3: 30,984,039 (GRCm39) Q692* probably null Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Ppp1r12a T A 10: 108,077,042 (GRCm39) H339Q probably benign Het
Ppp1r3a G A 6: 14,718,434 (GRCm39) Q827* probably null Het
Ptpra T A 2: 130,374,091 (GRCm39) I265N possibly damaging Het
Rabggta G T 14: 55,955,915 (GRCm39) H447Q probably benign Het
Ralgps1 T C 2: 33,062,442 (GRCm39) D277G possibly damaging Het
Riok3 A T 18: 12,269,869 (GRCm39) E100V probably null Het
Rtcb C T 10: 85,779,168 (GRCm39) V362M probably benign Het
Scd2 G T 19: 44,289,743 (GRCm39) C246F probably benign Het
Slco6c1 T C 1: 97,053,508 (GRCm39) E131G probably damaging Het
Tanc2 A G 11: 105,726,014 (GRCm39) M393V probably benign Het
Tas2r136 A T 6: 132,754,290 (GRCm39) I279N probably damaging Het
Tbx3 G T 5: 119,818,581 (GRCm39) K405N possibly damaging Het
Thumpd2 A T 17: 81,334,373 (GRCm39) V405D probably damaging Het
Tlr12 A G 4: 128,510,427 (GRCm39) S608P probably damaging Het
Wfs1 T C 5: 37,131,219 (GRCm39) K165E probably benign Het
Zfp810 C A 9: 22,194,518 (GRCm39) E57* probably null 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
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
R9423:Dab2ip UTSW 2 35,599,966 (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 PCR Primer
(F):5'- TGGACACCTGTTTGATGCAG -3'
(R):5'- ACTAGGCTCATTCCTCTACCAGAG -3'

Sequencing Primer
(F):5'- TGATGCAGGTATTCTCAGGCCC -3'
(R):5'- CCCCCAAAGTATAATTATTGGGAGTG -3'
Posted On 2020-10-20