Incidental Mutation 'R6360:Dab2ip'
ID 513047
Institutional Source Beutler Lab
Gene Symbol Dab2ip
Ensembl Gene ENSMUSG00000026883
Gene Name disabled 2 interacting protein
Synonyms 2310011D08Rik, AIP1
MMRRC Submission 044510-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.321) question?
Stock # R6360 (G1)
Quality Score 139.008
Status Validated
Chromosome 2
Chromosomal Location 35448285-35621006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35600278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 355 (H355R)
Ref Sequence ENSEMBL: ENSMUSP00000108616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065001] [ENSMUST00000091010] [ENSMUST00000112983] [ENSMUST00000112986] [ENSMUST00000112987] [ENSMUST00000112992] [ENSMUST00000135741] [ENSMUST00000145698]
AlphaFold Q3UHC7
Predicted Effect probably benign
Transcript: ENSMUST00000065001
AA Change: H290R

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000068832
Gene: ENSMUSG00000026883
AA Change: H290R

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 benign
Transcript: ENSMUST00000091010
AA Change: H355R

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000088532
Gene: ENSMUSG00000026883
AA Change: H355R

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 benign
Transcript: ENSMUST00000112983
AA Change: H231R

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108607
Gene: ENSMUSG00000026883
AA Change: H231R

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 benign
Transcript: ENSMUST00000112986
AA Change: H327R

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108610
Gene: ENSMUSG00000026883
AA Change: H327R

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 benign
Transcript: ENSMUST00000112987
AA Change: H298R

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108611
Gene: ENSMUSG00000026883
AA Change: H298R

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 benign
Transcript: ENSMUST00000112992
AA Change: H355R

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108616
Gene: ENSMUSG00000026883
AA Change: H355R

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: ENSMUST00000135741
AA Change: H298R

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122341
Gene: ENSMUSG00000026883
AA Change: H298R

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: H248R
SMART Domains Protein: ENSMUSP00000119058
Gene: ENSMUSG00000026883
AA Change: H248R

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 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
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 noncoding transcript
Transcript: ENSMUST00000156465
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138957
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 98% (59/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,985,831 (GRCm39) Q657* probably null Het
Car15 T C 16: 17,655,930 (GRCm39) T560A probably benign Het
Cass4 C T 2: 172,274,531 (GRCm39) H769Y probably damaging Het
Cdh6 A G 15: 13,041,546 (GRCm39) I506T possibly damaging Het
Clstn3 G T 6: 124,415,388 (GRCm39) R659S possibly damaging Het
Cntnap5b C T 1: 100,359,461 (GRCm39) R695* probably null Het
Cpsf1 CCCCTGCATGAGGCAGGTCCC CCCC 15: 76,481,655 (GRCm39) probably null Het
Dennd2a C T 6: 39,470,076 (GRCm39) A539T probably benign Het
Dnajc18 T C 18: 35,819,762 (GRCm39) E173G probably damaging Het
Dock7 T C 4: 98,857,899 (GRCm39) I1472V probably benign Het
Esco1 A T 18: 10,574,931 (GRCm39) F714I probably damaging Het
Fam107a T G 14: 8,299,619 (GRCm38) H73P probably damaging Het
Flg A G 3: 93,197,908 (GRCm39) probably benign Het
Fyn C A 10: 39,402,879 (GRCm39) T217K possibly damaging Het
Gbp9 T C 5: 105,231,596 (GRCm39) D330G probably benign Het
Gin1 T C 1: 97,720,264 (GRCm39) S509P possibly damaging Het
Gm17067 A C 7: 42,357,906 (GRCm39) S199A probably benign Het
Grk4 A T 5: 34,831,881 (GRCm39) K50M probably damaging Het
Inpp4b A G 8: 82,629,481 (GRCm39) H272R probably benign Het
Ipo7 T A 7: 109,626,336 (GRCm39) L48Q probably damaging Het
Kbtbd2 A G 6: 56,756,191 (GRCm39) I515T probably damaging Het
Kcnu1 T A 8: 26,351,208 (GRCm39) S190R possibly damaging Het
Kpnb1 T C 11: 97,064,096 (GRCm39) N336S probably benign Het
Lbr G T 1: 181,659,720 (GRCm39) D158E probably benign Het
Mphosph10 T C 7: 64,039,703 (GRCm39) Q89R probably benign Het
Nectin3 T A 16: 46,231,472 (GRCm39) T21S probably benign Het
Numb C A 12: 83,844,036 (GRCm39) R383L probably damaging Het
Or2p2 A T 13: 21,256,753 (GRCm39) N239K probably damaging Het
Or9a7 G T 6: 40,521,647 (GRCm39) Q89K possibly damaging Het
Pcdhb11 A T 18: 37,555,212 (GRCm39) I181F probably benign Het
Pcgf2 T A 11: 97,583,235 (GRCm39) probably null Het
Pdzd8 T C 19: 59,289,415 (GRCm39) T662A probably benign Het
Pex13 A C 11: 23,605,690 (GRCm39) V180G probably benign Het
Pira1 A T 7: 3,739,503 (GRCm39) L455Q probably damaging Het
Pkp4 T A 2: 59,045,091 (GRCm39) V22D probably benign Het
Prkn T C 17: 12,222,939 (GRCm39) F363S probably damaging Het
Prpf4b A C 13: 35,085,416 (GRCm39) D954A probably damaging Het
Rfx8 T C 1: 39,720,125 (GRCm39) I317V probably benign Het
Rnaseh2b T C 14: 62,598,868 (GRCm39) S198P probably damaging Het
Rock1 A T 18: 10,116,778 (GRCm39) C453S possibly damaging Het
Saxo4 T C 19: 10,456,845 (GRCm39) N167D probably damaging Het
Scarf1 G T 11: 75,406,495 (GRCm39) G260W probably damaging Het
Scyl1 T C 19: 5,810,599 (GRCm39) E538G probably damaging Het
Sec14l5 A T 16: 4,990,859 (GRCm39) I267F probably damaging Het
Senp6 T A 9: 80,021,088 (GRCm39) V256D probably benign Het
Sf3b4 G A 3: 96,084,044 (GRCm39) probably benign Het
Ssh1 T C 5: 114,099,408 (GRCm39) probably null Het
Tas2r143 A C 6: 42,377,769 (GRCm39) M200L probably benign Het
Tbc1d22a C T 15: 86,098,830 (GRCm39) P19S probably damaging Het
Tent5b T C 4: 133,214,067 (GRCm39) F313L probably damaging Het
Tmc5 T A 7: 118,233,189 (GRCm39) M1K probably null Het
Tnc T C 4: 63,918,970 (GRCm39) Y1151C probably damaging Het
Tshz3 A G 7: 36,468,866 (GRCm39) E285G probably damaging Het
Txndc11 C T 16: 10,902,656 (GRCm39) V664M probably damaging Het
Ube2g1 A T 11: 72,553,908 (GRCm39) N20Y probably damaging Het
Ufl1 T A 4: 25,265,476 (GRCm39) I369L probably benign Het
Vwf A T 6: 125,660,489 (GRCm39) T2666S probably benign Het
Yif1a A G 19: 5,142,369 (GRCm39) M259V probably benign Het
Zbtb46 T C 2: 181,033,248 (GRCm39) D471G 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
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'- AGGAACGCAACAGCTACCTG -3'
(R):5'- CCAGTCCTCCGAAATGAAGCAG -3'

Sequencing Primer
(F):5'- AACAGCTACCTGGGCCTG -3'
(R):5'- TCCGAAATGAAGCAGATCATAAC -3'
Posted On 2018-04-27