Incidental Mutation 'R5513:Dab2ip'
ID 440155
Institutional Source Beutler Lab
Gene Symbol Dab2ip
Ensembl Gene ENSMUSG00000026883
Gene Name disabled 2 interacting protein
Synonyms 2310011D08Rik, AIP1
MMRRC Submission 043073-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.321) question?
Stock # R5513 (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 35600266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 294 (H294L)
Ref Sequence ENSEMBL: ENSMUSP00000122341 (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: H286L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000068832
Gene: ENSMUSG00000026883
AA Change: H286L

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: H351L

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000088532
Gene: ENSMUSG00000026883
AA Change: H351L

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: H227L

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108607
Gene: ENSMUSG00000026883
AA Change: H227L

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: H323L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000108610
Gene: ENSMUSG00000026883
AA Change: H323L

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: H294L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000108611
Gene: ENSMUSG00000026883
AA Change: H294L

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: H351L

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108616
Gene: ENSMUSG00000026883
AA Change: H351L

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: H294L

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000122341
Gene: ENSMUSG00000026883
AA Change: H294L

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: H244L
SMART Domains Protein: ENSMUSP00000119058
Gene: ENSMUSG00000026883
AA Change: H244L

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: 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
Meta Mutation Damage Score 0.1245 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (59/61)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A T 2: 103,539,623 (GRCm39) probably null Het
Akr1b1 C A 6: 34,293,581 (GRCm39) probably benign Het
Alppl2 T A 1: 87,015,060 (GRCm39) N434Y probably benign Het
Ampd2 A G 3: 107,982,983 (GRCm39) I648T possibly damaging Het
Ankrd11 T C 8: 123,619,259 (GRCm39) E1510G probably benign Het
Ano2 A C 6: 126,016,285 (GRCm39) K939N possibly damaging Het
Arhgef5 A G 6: 43,249,273 (GRCm39) Y8C probably damaging Het
Aspm A T 1: 139,410,136 (GRCm39) I2609F probably damaging Het
Camsap2 A T 1: 136,208,601 (GRCm39) S964T probably benign Het
Cd22 C T 7: 30,566,450 (GRCm39) R823Q probably damaging Het
Cd74 T C 18: 60,944,377 (GRCm39) C196R probably damaging Het
Cfap73 A T 5: 120,769,777 (GRCm39) I82N probably damaging Het
Cidec A T 6: 113,405,140 (GRCm39) Y177N probably damaging Het
Crb1 C T 1: 139,164,559 (GRCm39) probably null Het
Cts7 T C 13: 61,503,398 (GRCm39) K189E possibly damaging Het
Cyp2c68 A T 19: 39,691,850 (GRCm39) Y358N probably damaging Het
Dnah6 T C 6: 73,167,402 (GRCm39) D502G probably null Het
Dnah8 T A 17: 30,971,890 (GRCm39) M2768K probably damaging Het
Etl4 C A 2: 20,748,638 (GRCm39) S405R probably damaging Het
Fsip2 G T 2: 82,781,252 (GRCm39) L19F probably damaging Het
Fsip2 T A 2: 82,815,542 (GRCm39) N3758K possibly damaging Het
Fsip2 C G 2: 82,781,256 (GRCm39) Q217E probably benign Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Hivep2 A T 10: 14,008,417 (GRCm39) K1672* probably null Het
Igkv2-137 G A 6: 67,532,998 (GRCm39) G54S possibly damaging Het
Ints8 A G 4: 11,248,303 (GRCm39) V105A possibly damaging Het
Lrba C T 3: 86,449,948 (GRCm39) S2089F probably damaging Het
Lrrc8b A G 5: 105,633,850 (GRCm39) K774R probably damaging Het
Mcm4 T A 16: 15,448,378 (GRCm39) Y393F probably benign Het
Mki67 A G 7: 135,309,479 (GRCm39) L324P probably damaging Het
Or4d6 A G 19: 12,086,745 (GRCm39) L55P probably damaging Het
Or52n3 A T 7: 104,530,706 (GRCm39) H264L probably damaging Het
Or5a3 G A 19: 12,400,047 (GRCm39) V125I probably benign Het
Or9s13 T C 1: 92,548,102 (GRCm39) V158A probably benign Het
Pld4 A G 12: 112,728,988 (GRCm39) E19G probably benign Het
Plvap T C 8: 71,964,173 (GRCm39) E63G probably damaging Het
Ppig A G 2: 69,580,703 (GRCm39) T746A probably benign Het
Prdm2 GCTCCTCCTCCTCCTCCTCCTCCTC GCTCCTCCTCCTCCTCCTCCTC 4: 142,862,463 (GRCm39) probably benign Het
Rbm15b A G 9: 106,763,316 (GRCm39) L284P probably benign Het
Relch G A 1: 105,678,698 (GRCm39) V1130I probably damaging Het
Rhbdl3 T C 11: 80,222,668 (GRCm39) V239A probably damaging Het
Sae1 T C 7: 16,100,781 (GRCm39) E197G probably benign Het
Sdhaf2 C T 19: 10,494,394 (GRCm39) R105H probably damaging Het
Senp3 T C 11: 69,567,965 (GRCm39) D425G probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc46a1 T C 11: 78,357,376 (GRCm39) F143S probably benign Het
Tom1 T A 8: 75,783,848 (GRCm39) N52K probably damaging Het
Vmn1r11 A T 6: 57,114,617 (GRCm39) T94S probably damaging Het
Zfp236 A G 18: 82,676,147 (GRCm39) I390T probably damaging Het
Zfp709 A T 8: 72,643,900 (GRCm39) H443L probably damaging Het
Zfp960 C T 17: 17,307,996 (GRCm39) P237S possibly 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
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'- AGGAACGCAACAGCTACCTG -3'
(R):5'- CAGTCCTCCGAAATGAAGCAG -3'

Sequencing Primer
(F):5'- AACAGCTACCTGGGCCTG -3'
(R):5'- TCCGAAATGAAGCAGATCATAAC -3'
Posted On 2016-11-08