Incidental Mutation 'R8560:Dab2ip'
ID 660963
Institutional Source Beutler Lab
Gene Symbol Dab2ip
Ensembl Gene ENSMUSG00000026883
Gene Name disabled 2 interacting protein
Synonyms 2310011D08Rik, AIP1
MMRRC Submission 068523-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.321) question?
Stock # R8560 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 35448285-35621006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35603144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 448 (S448P)
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: S383P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068832
Gene: ENSMUSG00000026883
AA Change: S383P

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: S448P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088532
Gene: ENSMUSG00000026883
AA Change: S448P

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: S324P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108607
Gene: ENSMUSG00000026883
AA Change: S324P

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: S420P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108610
Gene: ENSMUSG00000026883
AA Change: S420P

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: S391P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108611
Gene: ENSMUSG00000026883
AA Change: S391P

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: S448P

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108616
Gene: ENSMUSG00000026883
AA Change: S448P

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: S341P

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: S391P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122341
Gene: ENSMUSG00000026883
AA Change: S391P

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
SMART Domains Protein: ENSMUSP00000121506
Gene: ENSMUSG00000026883
AA Change: S73P

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 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 98% (62/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,958,374 (GRCm39) V819A unknown Het
Ahi1 T C 10: 20,835,814 (GRCm39) V49A probably benign Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Ccdc87 C T 19: 4,891,901 (GRCm39) R798W probably damaging Het
Cd163 T C 6: 124,294,360 (GRCm39) L506S possibly damaging Het
Chsy3 T C 18: 59,543,130 (GRCm39) V756A possibly damaging Het
Cisd3 G T 11: 97,576,689 (GRCm39) W5L possibly damaging Het
Coro1c A T 5: 113,984,249 (GRCm39) H339Q probably damaging Het
Cybc1 G T 11: 121,115,041 (GRCm39) A154D probably damaging Het
D630045J12Rik T A 6: 38,126,649 (GRCm39) I1454F probably damaging Het
Dennd5a A G 7: 109,533,898 (GRCm39) probably null Het
Depdc1a A G 3: 159,219,912 (GRCm39) K139E probably damaging Het
Dock6 T C 9: 21,714,132 (GRCm39) K1874R probably benign Het
Dst A G 1: 34,307,970 (GRCm39) H4229R probably damaging Het
Esyt3 T C 9: 99,202,375 (GRCm39) D512G probably damaging Het
Fastkd5 T A 2: 130,457,865 (GRCm39) I242L probably benign Het
Foxo3 G A 10: 42,151,278 (GRCm39) T51M possibly damaging Het
Gcfc2 T C 6: 81,900,863 (GRCm39) V59A possibly damaging Het
Gm14410 C A 2: 176,885,445 (GRCm39) C273F probably damaging Het
Gucy1b1 G T 3: 81,942,685 (GRCm39) P486T probably damaging Het
Hydin A G 8: 111,265,106 (GRCm39) N2763S probably benign Het
Ifna2 C A 4: 88,601,502 (GRCm39) W172L possibly damaging Het
Igkv6-29 T C 6: 70,115,651 (GRCm39) N48D probably benign Het
Il17ra C A 6: 120,459,226 (GRCm39) D792E possibly damaging Het
Kcnh5 G T 12: 75,023,379 (GRCm39) A563E probably damaging Het
Klra4 C A 6: 130,042,235 (GRCm39) V11L probably benign Het
Krt13 T C 11: 100,009,676 (GRCm39) E368G possibly damaging Het
Lrpprc T A 17: 85,047,495 (GRCm39) probably benign Het
Mal2 T C 15: 54,461,826 (GRCm39) I107T probably benign Het
Mc4r T C 18: 66,992,166 (GRCm39) I316V possibly damaging Het
Mdn1 T A 4: 32,743,830 (GRCm39) V4022E probably benign Het
Med12l A G 3: 58,945,026 (GRCm39) N84D probably damaging Het
Mx1 T G 16: 97,253,987 (GRCm39) T298P probably damaging Het
Myh7 T C 14: 55,213,405 (GRCm39) E1367G possibly damaging Het
Myh7b A G 2: 155,465,124 (GRCm39) E660G possibly damaging Het
Nbeal1 T A 1: 60,274,316 (GRCm39) N242K probably benign Het
Nsun5 A G 5: 135,404,743 (GRCm39) T435A probably benign Het
Or14j4 C T 17: 37,920,949 (GRCm39) S231N possibly damaging Het
Or4q3 T A 14: 50,583,794 (GRCm39) D4V probably benign Het
Or5b109 T C 19: 13,211,656 (GRCm39) L14P possibly damaging Het
Pcdhb17 C T 18: 37,619,206 (GRCm39) T332M possibly damaging Het
Pi4k2a C T 19: 42,089,151 (GRCm39) Q171* probably null Het
Plb1 T C 5: 32,460,023 (GRCm39) V421A possibly damaging Het
Prkag2 TTTTTTTTTTTTA T 5: 25,071,063 (GRCm39) probably benign Het
Prlhr A G 19: 60,456,635 (GRCm39) probably benign Het
Prpf8 T A 11: 75,382,600 (GRCm39) C435* probably null Het
Rnf183 T A 4: 62,346,735 (GRCm39) N21I probably damaging Het
Rnf41 T A 10: 128,274,222 (GRCm39) C291* probably null Het
Shd T C 17: 56,278,616 (GRCm39) S60P probably benign Het
Slc16a5 A G 11: 115,360,545 (GRCm39) T243A probably benign Het
Slc33a1 A T 3: 63,850,773 (GRCm39) I517N possibly damaging Het
Slc4a1 A C 11: 102,244,083 (GRCm39) M682R possibly damaging Het
Sphk2 A T 7: 45,361,514 (GRCm39) N245K probably damaging Het
Stx7 T C 10: 24,057,454 (GRCm39) I160T possibly damaging Het
Thbs4 T C 13: 92,891,608 (GRCm39) I836V probably damaging Het
Tmc5 A T 7: 118,268,514 (GRCm39) N861Y probably damaging Het
Trappc5 T A 8: 3,729,303 (GRCm39) W94R probably damaging Het
Trmt44 T C 5: 35,715,295 (GRCm39) I673V probably benign Het
Ttn T C 2: 76,571,615 (GRCm39) Y26426C probably damaging Het
Wdr81 C T 11: 75,336,260 (GRCm39) G591R Het
Zfp236 G A 18: 82,664,340 (GRCm39) R482W probably damaging Het
Zfp51 T A 17: 21,685,635 (GRCm39) M750K probably benign 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
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'- AGGAATACCTCAAACTTGTGGGC -3'
(R):5'- CCAGTGGAATCAGATGCTGG -3'

Sequencing Primer
(F):5'- CTCAAACTTGTGGGCCAGAAGTAC -3'
(R):5'- TGGAATCAGATGCTGGCACCC -3'
Posted On 2021-03-08