Incidental Mutation 'R1442:Dab2ip'
ID 161519
Institutional Source Beutler Lab
Gene Symbol Dab2ip
Ensembl Gene ENSMUSG00000026883
Gene Name disabled 2 interacting protein
Synonyms 2310011D08Rik, AIP1
MMRRC Submission 039497-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.380) question?
Stock # R1442 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 35448285-35621006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35600268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 287 (I287F)
Ref Sequence ENSEMBL: ENSMUSP00000068832 (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: I287F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000068832
Gene: ENSMUSG00000026883
AA Change: I287F

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: I352F

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088532
Gene: ENSMUSG00000026883
AA Change: I352F

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: I228F

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108607
Gene: ENSMUSG00000026883
AA Change: I228F

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: I324F

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108610
Gene: ENSMUSG00000026883
AA Change: I324F

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 possibly damaging
Transcript: ENSMUST00000112987
AA Change: I295F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108611
Gene: ENSMUSG00000026883
AA Change: I295F

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: I352F

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108616
Gene: ENSMUSG00000026883
AA Change: I352F

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 damaging
Transcript: ENSMUST00000135741
AA Change: I295F

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122341
Gene: ENSMUSG00000026883
AA Change: I295F

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 unknown
Transcript: ENSMUST00000124098
AA Change: I245F
SMART Domains Protein: ENSMUSP00000119058
Gene: ENSMUSG00000026883
AA Change: I245F

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 noncoding transcript
Transcript: ENSMUST00000138957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156465
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
Meta Mutation Damage Score 0.2053 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.4%
Validation Efficiency 100% (71/71)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,839,833 (GRCm39) probably benign Het
Adamts7 T A 9: 90,070,823 (GRCm39) I648N probably damaging Het
Akap13 T A 7: 75,385,526 (GRCm39) F2252I probably damaging Het
Akr1c6 A T 13: 4,507,159 (GRCm39) H314L probably damaging Het
Anxa3 T A 5: 96,976,549 (GRCm39) probably null Het
Apob T G 12: 8,036,165 (GRCm39) F298V probably benign Het
Atp8a2 A C 14: 60,097,772 (GRCm39) probably benign Het
Atp8b5 A T 4: 43,334,313 (GRCm39) T360S probably damaging Het
BC051665 A T 13: 60,932,555 (GRCm39) N43K probably benign Het
Bicral T A 17: 47,112,650 (GRCm39) H850L probably benign Het
C1qtnf1 A G 11: 118,339,011 (GRCm39) D227G probably damaging Het
C8a T A 4: 104,685,275 (GRCm39) T323S possibly damaging Het
Cep89 T C 7: 35,117,636 (GRCm39) probably benign Het
Cercam G T 2: 29,770,652 (GRCm39) V408L probably benign Het
CN725425 G A 15: 91,123,158 (GRCm39) V76M possibly damaging Het
Cops7b T A 1: 86,532,835 (GRCm39) M231K probably benign Het
Cpa2 T A 6: 30,544,865 (GRCm39) probably null Het
Defb10 A T 8: 22,348,944 (GRCm39) M1L probably benign Het
Dscam C A 16: 96,409,274 (GRCm39) R1883L possibly damaging Het
Dsg4 T A 18: 20,595,717 (GRCm39) I640N possibly damaging Het
Duox2 G C 2: 122,112,232 (GRCm39) P1318R probably benign Het
Dzip3 T C 16: 48,765,985 (GRCm39) D466G probably benign Het
E230025N22Rik T A 18: 36,824,462 (GRCm39) probably null Het
E2f3 A G 13: 30,102,652 (GRCm39) L80P probably damaging Het
Eif2b2 T C 12: 85,266,360 (GRCm39) S9P probably benign Het
Etaa1 A T 11: 17,897,201 (GRCm39) D305E probably benign Het
Fads6 C A 11: 115,188,235 (GRCm39) R23L probably benign Het
Flrt2 T C 12: 95,746,979 (GRCm39) V439A probably damaging Het
Galm A C 17: 80,452,614 (GRCm39) Q184P probably damaging Het
Gtse1 C T 15: 85,744,303 (GRCm39) probably benign Het
Irf7 T C 7: 140,843,935 (GRCm39) T246A probably damaging Het
Kif28 A G 1: 179,532,697 (GRCm39) V639A possibly damaging Het
Klhdc8a G A 1: 132,230,385 (GRCm39) A167T possibly damaging Het
Lrfn3 T C 7: 30,059,469 (GRCm39) H252R probably benign Het
Lzts1 G T 8: 69,591,638 (GRCm39) A170E probably damaging Het
Mphosph9 T A 5: 124,403,461 (GRCm39) I856F possibly damaging Het
Mroh2a C T 1: 88,160,075 (GRCm39) probably benign Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Myh3 A G 11: 66,978,103 (GRCm39) N392D possibly damaging Het
Naalad2 T C 9: 18,262,328 (GRCm39) probably benign Het
Npc1 T A 18: 12,328,106 (GRCm39) M1068L probably benign Het
Nup58 T A 14: 60,469,992 (GRCm39) probably benign Het
Or10c1 T C 17: 37,522,595 (GRCm39) T50A probably benign Het
Or4k40 A T 2: 111,250,438 (GRCm39) I286N probably damaging Het
Or8b1 A T 9: 38,399,939 (GRCm39) I205F probably benign Het
Or8s16 T C 15: 98,211,068 (GRCm39) Y121C probably damaging Het
Parp2 T G 14: 51,056,732 (GRCm39) probably null Het
Ppp4r4 T C 12: 103,564,504 (GRCm39) V9A probably damaging Het
Ptprc T A 1: 138,000,050 (GRCm39) D856V probably damaging Het
Ptpru T A 4: 131,535,580 (GRCm39) T466S probably benign Het
Rhob A G 12: 8,549,325 (GRCm39) V103A possibly damaging Het
Sec23ip A C 7: 128,378,510 (GRCm39) S775R probably benign Het
Slit2 T G 5: 48,395,725 (GRCm39) D709E probably damaging Het
Smok2b C G 17: 13,454,390 (GRCm39) I183M probably damaging Het
Smtnl1 T A 2: 84,648,780 (GRCm39) D158V probably damaging Het
Syne2 T C 12: 75,993,489 (GRCm39) I2087T probably damaging Het
Tada1 G A 1: 166,214,319 (GRCm39) R106H possibly damaging Het
Tecta T A 9: 42,243,778 (GRCm39) I2025F probably damaging Het
Themis T C 10: 28,658,131 (GRCm39) V386A probably damaging Het
Ubr5 G A 15: 38,015,168 (GRCm39) probably benign Het
Vcl T A 14: 21,033,446 (GRCm39) I134N probably damaging Het
Vegfa G A 17: 46,336,418 (GRCm39) T56I possibly damaging Het
Vmn2r108 T A 17: 20,692,623 (GRCm39) K78* probably null Het
Vmn2r82 A T 10: 79,215,201 (GRCm39) T395S probably benign Het
Wbp2nl T C 15: 82,198,407 (GRCm39) S315P probably benign Het
Zfp566 T C 7: 29,777,344 (GRCm39) Y279C probably damaging Het
Zmym2 T C 14: 57,180,784 (GRCm39) Y899H 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
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
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'- AGCACTTTGAGTTCCATAACCTGCC -3'
(R):5'- AGATCCATCAAGCGTGGACAGC -3'

Sequencing Primer
(F):5'- ACCTGTATCGGGAGACTGAC -3'
(R):5'- TCCTTGGTCTTGGCACTG -3'
Posted On 2014-03-14